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Laura LUCACCIONI
Ricercatore t.d. art. 24 c. 3 lett. B
Dipartimento di Scienze Mediche e Chirurgiche Materno-Infantili e dell'Adulto
Tutor di tirocinio
Dipartimento di Scienze Biomediche, Metaboliche e Neuroscienze sede Policlinico
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Pubblicazioni
2024
- Fentanyl analgesia in asphyxiated newborns treated with therapeutic hypothermia
[Articolo su rivista]
Lugli, L.; Spada, C.; Garetti, E.; Guidotti, I.; Roversi, M. F.; Della Casa, E.; Bedetti, L.; Lucaccioni, L.; Pugliese, M.; Ferrari, F.; Iughetti, L.; Lago, P.; Berardi, A.
abstract
Introduction: Therapeutic hypothermia is the standard care for asphyxiated newborns. Discomfort and pain during treatment are common and may affect therapeutic efficacy of hypothermia. Opioid analgosedation is commonly used in the clinical setting, but its effects in the cooled newborns is poorly investigated. Objective: The aim of this study was to assess the safety of fentanyl analgosedation during therapeutic hypothermia, by evaluating severe adverse effects and possible correlation with the neurodevelopmental outcome. Methods: We analyzed asphyxiated newborns treated with hypothermia receiving fentanyl intravenous infusion (years 2013–2018). Severe neurodevelopmental outcome was defined as cerebral palsy or Griffith’s developmental quotient <70 or major sensorineural deficit. Severe brain lesions were defined as cortical or/and basal ganglia extensive involvement. Results: Fentanyl cumulative dose was variable (61.7 ± 18.5 µg/kg; range 34.3–120.3 µg/kg) among 45 enrolled patients. Respiratory depression was recorded in 13.3% cases of 30 spontaneously breathing patients. Severe brain lesions and severe neurodevelopmental disability were found in 24.4 and 11.1% of all included cases, respectively. Higher cumulative fentanyl dose was not associated with poor outcome. Conclusions: Fentanyl treatment during therapeutic hypothermia does not negatively affect the neurodevelopmental outcome, thus on the contrary, it may contribute to ameliorate neuroprotection in the asphyxiated cooled newborns.
2024
- Investigating Eating Habits of Children Aged between 6 Months and 3 Years in the Provinces of Modena and Reggio Emilia: Is Our Kids’ Diet Sustainable for Their and the Planet’s Health?
[Articolo su rivista]
Palandri, L; Rocca, L; Scasserra, Mr; Vigezzi, Pg; Iughetti, L; Lucaccioni, L; Righi, E
abstract
A healthy and balanced diet is crucial for children’s well-being and aids in preventing diet-related illnesses. Furthermore, unhealthy dietary habits indirectly impact children’s health, as the food industry stands as one of the primary drivers of climate change. Evidence shows the
Mediterranean diet is sustainable for both children’s and the planet’s health. The aim of this crosssectional study was to evaluate the eating habits of children aged between 6 months and 3 years, in the province of Modena and Reggio Emilia, in Italy, along with their adherence to the guidelines
for a healthy diet, and examine the role of pediatricians in promoting knowledge about nutrition and sustainability. In our sample (218 children), most children exceeded the recommended meat and cheese intake, while consuming insufficient amounts of vegetables, fruit, and legumes. Vegetable and fruit consumption declined with the increase in age category while eating sweets, soft drinks, and processed food increased. Incorporating school meals’ data into this analysis, we observed a modification in dietary compliance, characterized by an increase in meat and cheese consumption, alongside improvements in the intake of vegetables, fruits, fish, eggs, and legumes. This study suggests that supporting an integrated approach that combines social and educational initiatives is crucial. Future research should prioritize fostering sustainable eating habits within communities to facilitate dietary habits’ transformation and encourage healthier lifestyles.
2024
- Subtle impairment of neurodevelopment in infants with late fetal growth restriction
[Articolo su rivista]
Lucaccioni, L.; Boncompagni, A.; Pugliese, M.; Talucci, G.; Della Casa, E.; Bertoncelli, N.; Coscia, A.; Bedetti, L.; Berardi, A.; Iughetti, L.; Ferrari, F.
abstract
Introduction: Children with late fetal growth restriction (FGR) are at high risk of being born small for gestational age (SGA). These categories of newborns are at increased risk for neurodevelopment impairment. The general movements assessment, in particular at fidgety age, has been used to predict neurological dysfunctions. This study aimed to evaluate growth recovery, presence of fidgety movements at 3 months, and neurodevelopmental outcome at 2 years of age in term late FGR infants and adequate for gestational age (AGA) controls. Methods: Prospective clinical evaluation. At 3 months auxological parameters (AP) and neurological examination were evaluated while at 24 months neurodevelopment outcome by Griffiths Mental Development Scales (GMDS-R) was evaluated. Results: 38 late FGR and 20 AGA controls completed the study. Despite a significant catch up, at 3 months 13% of late FGR presented at least one auxological parameter <3° percentile. Moreover, 23.7% of late FGR infants did not show fidgety movements compared to 100% AGA controls (p <.001). Cranial circumference at birth resulted a positive predictive factor for FMs (p =.039). At 2 years of age, a difference statistically significant between late FGR and AGA was detected in GMDS-R. Conclusion: Independently from growth recovery, fidgety movements resulted less expressed in late FGR infants, and at 2 years of age the neurodevelopmental assessment revealed differences in each domain of evaluation between late FGR and AGA infants, although within normal ranges.
2023
- Early Skin-to-Skin Contact in Preterm Infants: Is It Safe? An Italian Experience
[Articolo su rivista]
Bedetti, L.; Lugli, L.; Bertoncelli, N.; Spaggiari, E.; Garetti, E.; Lucaccioni, L.; Cipolli, F.; Berardi, A.
abstract
Background: Skin-to-skin contact (SSC) is one of the four components of kangaroo care (KC) and is also a valued alternative to incubators in low-income countries. SSC has also become a standard of care in high-income countries because of its short- and long-term benefits and its positive effect on infant growth and neurodevelopmental outcome. However, barriers in the implementation of SSC, especially with preterm infants, are common in NICUs because parents and health care professionals can perceive it as potentially risky for the clinical stability of preterm infants. Previous studies have assessed safety before and during SSC by monitoring vital parameters during short-time intervals. Aims: To demonstrate the safety of early SSC in preterm infants during at least 90 min intervals. Design: Prospective observational monocentric study. Methods: Preterm infants born between June 2018 and June 2020 with a gestational age of ≤33 weeks and a birth weight of <2000 g were monitored while performing an SSC session during the first three weeks of life. Infants with necrotizing enterocolitis, sepsis, and congenital malformations on mechanical ventilation or with more than five apneas in the hour before SSC were excluded. Continuous oxygen saturation (SaO2), heart rate (HR), and respiratory rate (RR) were registered during an SSC session and in the hour before. The minimum duration of an SSC session was 90 min. Information regarding postmenstrual age (PMA), body weight, respiratory support, presence of a central venous catheter and the onset of sepsis within 72 h after a session was collected. Two physicians, blinded to infant conditions and the period of analysis (before or during SSC), evaluated desaturation episodes (SaO2 < 85%, >15 s), bradycardia (HR < 100, >15 s) and apneas (pause in breathing > 20 s associated with desaturation and/or bradycardia). A Wilcoxon rank sum test was used for the statistical analysis. Results: In total, 83 episodes of SSC were analyzed for a total of 38 infants. The mean gestational age at birth was 29 weeks (range 23–33 weeks). Median PMA, days of life, and body weight at SSC were 31 weeks (range 25–34 weeks), 10 days (range 1–20 days), and 1131 g (range 631–2206 g), respectively. We found that 77% of infants were on respiratory support and 47% of them had a central venous catheter (umbilical or peripherally inserted central catheter) during SSC. The total duration of desaturation, bradycardia, and the number of apneas were not statistically different during the SSC session and the hour before. No catheter dislocation or ruptures were reported. Conclusions: These findings highlighted the safety of early SSC in preterm infants and the possibility of performing it in an intensive care setting in the first weeks of life. In addition, these findings should reassure health care professionals offering this practice as a standard of care. SSC plays a key role in the care of preterm infants due to its short- and long-term positive benefits, and it deserves to be increasingly offered to infants and their parents.
2023
- Early life exposure to phthalates and risk assessment: are we doing enough?
[Abstract in Rivista]
De Pasquale, Lisa; Lugli, Camilla; Palandri, Lucia; Barbieri, Riccardo; Passini, Erica; Facchinetti, Fabio; Iughetti, Lorenzo; Lucaccioni, Laura; Righi, Elena
abstract
Background and Objective: Phthalates, potential endocrine disruptors with
antiandrogenic effects, are widely used in several everyday products and are
ubiquitous pollutants. Since 1999 European Authorities enacted several
regulations to limit phthalate use and prevent exposure, mainly for more
susceptible populations such as infants. This study aims to evaluate the estimated
daily intake (EDI) of phthalates and to perform risk assessment evaluation in an
Italian pediatric cohort.
Methods: Between 2019 and 2020, 197 mother-child couples were enrolled in
a prospective cohort study at the University Hospital of Modena (Italy). Urine
samples were collected at birth, 3 and 6-months. 8 phthalates metabolites were
analyzed.
EDI was estimated and Risk quotients (RQ) were calculated using tolerable daily
intake levels, (RQ(TDI)) as determined by the European Food Safety Authority, and
the revised reference doses for anti-androgenicity RQ(RfD-AA), recently proposed.
Finally, combined Hazard Indexes (HI) were calculated to assess synergic effect
of different phthalates.
Results: Most EDI and RQ(TDI) were lower than the acceptable values. The highest
levels were found for Diethyl-phthalate (DEP), followed by Di-2-ethylhexyl-phthlate
(DEHP). Newborns showed the highest values, followed by 6-months infants.
Values exceeding the risk levels were observed for DEHP or di-n-butyl-phthalate
(DnBP) in 5.5% and 10% of the newborns, respectively for RQ(RfDAA) and HI.
Overall, HI higher values than threshold were observed at each follow-up visit.
Conclusion: Since the European Union has a strict regulation policy regarding the
most critical phthalates, these findings raise concern: exposure affecting children
in Modena is still spread and includes phthalates banned in childcare products,
such as DEHP and DnBP. Notably, few infants (especially newborns) exceeded
the risk threshold for antiandrogenic effects. Further, exposure patterns seem to
change over time during their first months of life. More extensive public health
measures need to be planned to efficiently protect the most sensitive subgroups,
including infants.
2023
- Early-life exposure to phthalates and minipuberty: is there any relationship?
[Abstract in Rivista]
Lucaccioni, L; Palandri, L; Trevisani, V; Righi, B; Calandra Bonaura, F; Predieri, B; Righi, E; Iughetti, L
abstract
2023
- Endocrine immune-related adverse effects of immune-checkpoint inhibitors
[Articolo su rivista]
Trevisani, Viola; Iughetti, Lorenzo; Lucaccioni, Laura; Predieri, Barbara
abstract
IntroductionImmune-checkpoint inhibitor therapy modulates the response of the immune system acting against cancer. Two pathways impacted by this kind of treatment are the CTLA4 and the PD-1/PD-L1 pathways. ICI therapy can trigger autoimmune adverse effects, known as immune-related Adverse Events (irAEs).Areas coveredThis review focuses on irAEs which affect the endocrine system. This review elucidates the pathways used by these drugs with a focus on the hypothetical pathogenesis at their basis. In fact, the pathophysiology of irAEs concerns the possibility of an interaction between cellular autoimmunity, humoral immunity, cytokines, chemokines, and genetics. The endocrine irAEs examined are thyroid dysfunctions, immune related-hypophysitis, diabetes, peripheral adrenal insufficiency, and hypoparathyroidism.Expert opinionThere is still much to investigate in endocrine irAES of checkpoint inhibitors. In the future, checkpoint inhibitors will be increasingly utilized therapies, and therefore it is crucial to find the proper diagnostic-therapeutic program for irAEs, especially as endocrine irAEs are nonreversible and require lifelong replacement therapies.
2023
- Healthy preterm newborns: Altered innate immunity and impaired monocyte function
[Articolo su rivista]
De Biasi, Sara; Neroni, Anita; Nasi, Milena; Lo Tartaro, Domenico; Borella, Rebecca; Gibellini, Lara; Lucaccioni, Laura; Bertucci, Emma; Lugli, Licia; Miselli, Francesca; Bedetti, Luca; Neri, Isabella; Ferrari, Fabrizio; Facchinetti, Fabio; Berardi, Alberto; Cossarizza, Andrea
abstract
: Birth prior to 37 completed weeks of gestation is referred to as preterm (PT). Premature newborns are at increased risk of developing infections as neonatal immunity is a developing structure. Monocytes, which are key players after birth, activate inflammasomes. Investigations into the identification of innate immune profiles in premature compared to full-term infants are limited. Our research includes the investigation of monocytes and NK cells, gene expression, and plasma cytokine levels to investigate any potential differences among a cohort of 68 healthy PT and full-term infants. According to high-dimensional flow cytometry, PT infants have higher proportions of CD56+/- CD16+ NK cells and immature monocytes, and lower proportions of classical monocytes. Gene expression revealed lower proportions of inflammasome activation after in vitro monocyte stimulation and the quantification of plasma cytokine levels expressed higher concentrations of alarmin S100A8. Our findings suggest that PT newborns have altered innate immunity and monocyte functional impairment, and pro-inflammatory plasmatic profile. This may explain PT infants' increased susceptibility to infectious disease and should pave the way for novel therapeutic strategies and clinical interventions.
2023
- Infectious Risks Related to Umbilical Venous Catheter Dwell Time and Its Replacement in Newborns: A Narrative Review of Current Evidence
[Articolo su rivista]
Corso, L.; Buttera, M.; Candia, F.; Sforza, F.; Rossi, K.; Lugli, L.; Miselli, F.; Bedetti, L.; Baraldi, C.; Lucaccioni, L.; Iughetti, L.; Berardi, A.
abstract
The use of umbilical venous catheters (UVCs) has become the standard of care in the neonatal intensive care unit (NICU) to administer fluids, medications and parenteral nutrition. However, it is well known that UVCs can lead to some serious complications, both mechanical and infective, including CLABSI (Central Line-Associated Bloodstream Infections). Most authors recommend removing UVC within a maximum of 14 days from its placement. However, the last Infusion Therapy Standards of Practice (INS) guidelines recommends limiting the UVC dwell time to 7 to 10 days, to reduce risks of infectious and thrombotic complications. These guidelines also suggest as an infection prevention strategy to remove UVC after 4 days, followed by the insertion of a PICC if a central line is still needed. Nevertheless, the maximum UVC dwell time to reduce the risk of CLABSI is still controversial, as well as the time of its replacement with a PICC. In this study we reviewed a total of 177 articles, found by using the PubMed database with the following search strings: “UVC AND neonates”, “(neonate* OR newborn*) AND (UVC OR central catheter*) AND (infection*)”. We also analyze the INS guidelines to provide the reader an updated overview on this topic. The purpose of this review is to give updated information on CVCs infectious risks by examining the literature in this field. These data could help clinicians in deciding the best time to remove or to replace the UVC with a PICC, to reduce CLABSIs risk. Despite the lack of strong evidence, the risk of CLABSI seems to be minimized when UVC is removed/replaced within 7 days from insertion and this indication is emerging from more recent and larger studies.
2023
- Maternal phthalate exposure and dietary habits during pregnancy: what do we need to look for?
[Abstract in Rivista]
Scasserra, Maria; Maione, Domenico; Palandri, Lucia; De Pasquale, Lisa; Casalucci, Marta; Uguzzoni, Francesco; Lorenzon, Antonio; Facchinetti, Fabio; Iughetti, Lorenzo; Trevisani, Viola; Arletti, Maria; Lucaccioni, Laura; Righi, Elena
abstract
Background and Objectives: Phthalates are chemical products widely used as
plasticizers, potentially harmful, especially for their antiandrogenic effects in
specific populations, such as pregnant women and newborns. Ingestion is an
important exposure pathway, however specific exposure sources and drivers are
mainly unknown. The aim of this study was to evaluate the association between
dietary and cooking habits during pregnancy and phthalates exposure at delivery.
Methods: 197 women were recruited after delivery, in a single-center prospective
cohort study at Modena’s University Hospital (Italy), from January 2019 to October
2020. Exposure to 6 phthalates was assessed in urine samples and expressed as
µg/g of urinary creatinine. Pregnancy, dietary and cooking habits were recorded
by ad hoc questionnaire. Descriptive statistics and bivariate analyzes were
performed.
Results: Overall, exposure resulted widespread in women at delivery. In women
usually boiling food, urinary levels of Monobenzylphthalate (MBzP) (3.4±2 vs
4.7±3.3 μg/g) and Mono-2-ethylhexylphthalate (MEHP) (2.3±1.8 vs 5.2±15.2
μg/g) were significantly lower, whereas in women usually frying food, monon-butylphthalate (MnBP) appeared significantly higher (23.2±59.6 vs 9.8±11.5
μg/g). Low fruit consumption during pregnancy was associated with higher MnBP
concentrations compared to daily consumption (39.3±83.1 vs 10.6±11.5 μg/g).
Concentrations of monoethylphthalate (MEP) appeared higher in women who
consumed cheese, eggs and fish. Daily consumption of red meat, beef and pork
was associated with higher levels of di(2-ethylhexyl)phthalate (DEHP) metabolites.
Conclusion: No strong association among exposure and dietary habits was
observed, even though urinary levels of some phthalates resulted higher in women
frequently consuming fat food and lower when consuming fruits or choosing
healthier cooking methods. Surprisingly, no correlation appeared with packaged
foods and packaging material. Further studies are needed to better elucidate
ingestion exposure pathways with a greater focus on alternative sources of
contamination such as food production, processing and transportation to better
guide evidence-based policy making.
2023
- Parenting stress: socio-economic determinants before and during the covid-19 pandemic. results of an italian cross-sectional study
[Abstract in Rivista]
Fasano, Marco; Iughetti, Lorenzo; Palandri, Lucia; Pasquale, Lisa; Ferrari, Eleonora; Trevisani, Viola; Passini, Erica; Lucaccioni, Laura; Righi, Elena
abstract
Background and objective: Parenting can be a stressful experience and in the
context of a pandemic it can represent a challenge for many families. The aim
of this study was to investigate socio-demographic factors related to parenting
stress before and after the SARS-CoV-2 outbreak in Italian parents living in
Modena (Italy).
Methods: From September 2019 to May 2021, 80 parents of 6 months healthy
children were enrolled in a prospective cohort study at the local University
Hospital and filled in the Parenting Stress Index Short Form (PSI-SF), a validated
questionnaire measuring parenting stress, well-known in clinical practice for its
reliability and simplicity of use. PSI scores over the 90th percentile of the Italian
population distribution were considered indicative of a highly stressful condition.
The role played by different socio-demographic factors in increasing PSI score
was tested by chi-square test in the whole sample and by stratifying parents
according to the evaluation time (PRE-COVID and COVID period).
Results: Overall, 11% of parents reported high stress scores and prevalence was
higher during lockdown (15% vs 6%). In the COVID group, higher scores were
observed in younger mothers (17%), higher educated parents (16% and 23%
of mothers and fathers respectively), having only one child (18%) and living in
the urban environment (23%), regardless of infant’s gender. In the PRE-COVID
group higher stress scores were reported mainly by parents with more than one
child (10%), with male children (9%), and by mothers with lower education (8%). Nevertheless, differences were often not statistically significant.
Conclusion: Different socio-demographic factors appear to be related to higher
parenting stress and our results suggest that they could show inverse trends
in different conditions. Parenting stress in difficult circumstances must be
addressed carefully and promptly and specific public health interventions for
families with special needs must be planned and implemented.
2023
- Perinatal and postnatal exposure to phthalates and early neurodevelopment at 6 months in healthy infants born at term
[Articolo su rivista]
Lucaccioni, Laura; Palandri, Lucia; Passini, Erica; Trevisani, Viola; Calandra Buonaura, Filippo; Bertoncelli, Natascia; Talucci, Giovanna; Ferrari, Angela; Ferrari, Eleonora; Predieri, Barbara; Facchinetti, Fabio; Iughetti, Lorenzo; Righi, Elena
abstract
Background: Phthalates are non-persistent chemicals largely used as plasticizers and considered ubiquitous pollutants with endocrine disrupting activity. The exposure during sensible temporal windows as pregnancy and early childhood, may influence physiological neurodevelopment.
Aims and Scope: The aim of this study is to analyze the relationship between the urinary levels of phthalate metabolites in newborn and infants and the global development measured by the Griffiths Scales of Children Development (GSCD) at six months.
Methods: Longitudinal cohort study in healthy Italian term newborn and their mothers from birth to the first 6 months of life. Urine samples were collected at respectively 0 (T0), 3 (T3), 6 (T6) months, and around the delivery for mothers. Urine samples were analyzed for a total of 7 major phthalate metabolites of 5 of the most commonly used phthalates. At six months of age a global child development assessment using the third edition of the Griffith Scales of Child Development (GSCD III) was performed in 104 participants.
Results: In a total of 387 urine samples, the seven metabolites analyzed appeared widespread and were detected in most of the urine samples collected at any time of sampling (66-100%). At six months most of the Developmental Quotients (DQs) falls in average range, except for the subscale B, which presents a DQ median score of 87 (85-95). Adjusted linear regressions between DQs and urinary phthalate metabolite concentrations in mothers at T0 and in infants at T0, T3 and T6 identified several negative associations both for infants’ and mothers especially for DEHP and MBzP. Moreover, once stratified by children’s sex, negative associations were found in boys while positive in girls.
Conclusions: Phthalates exposure is widespread, especially for not regulated compounds. Urinary phthalate metabolites were found to be associated to GSCD III scores, showing inverse association with higher phthalate levels related to lower development scores. Our data suggested differences related to the child’s sex.
2023
- Telemedicine usefulness in the follow-up of young people with diabetes 1 diabetes 2-years after the spread of COVID-19
[Abstract in Rivista]
Predieri, B; Candia, F; Stefanelli, F; Vandelli, S; Lucaccioni, L; Bruzzi, P; Iughetti, L
abstract
2022
- Alimentazione complementare nella prima infanzia e aderenza alle raccomandazioni: uno studio cross-sectional nella provincia di Modena
[Abstract in Rivista]
Casalucci, Ma; Palandri, L; De Pasquale, L; Fasano, M; Ferrari, A; Rizzi, C; Trevisani, V; Passini, E; Lucaccioni, L; Righi, E
abstract
Introduzione
I modelli nutrizionali delle prime fasi della vita possono condizionare la salute futura dell’individuo, influenzando il rischio di sviluppare malattie croniche. Tuttavia, le numerose
indicazioni sull’Alimentazione Complementare (AC) non risultano univoche ed evidence based e questo si traduce spesso in comportamenti eterogenei. Lo scopo dello studio è quello di descrivere l’AC di un gruppo di bambini modenesi nelle primissime fasi dello svezzamento e la loro aderenza alle raccomandazioni italiane ed europee.
Materiali e metodi
Nel triennio 2019-2021 le abitudini alimentari di 75 bambini
(età media 6,2 ± 0,6 mesi) sono state investigate tramite un
questionario compilato dalle mamme su base volontaria dopo rilascio di consenso informato.
rilascio di consenso informato. I dati raccolti sono stati sintetizzati tramite statistiche descrittive.
Risultati
Oltre il 93% e il 96% dei bambini consuma giornalmente rispettivamente frutta e verdura e il 44% ha introdotto questi
alimenti da più di un mese. Il 78% assume cereali, il 42% quotidianamente.
Il 67% ha già iniziato a consumare carne mentre
i legumi compaiono nella dieta solamente nel 51.4% del
campione, spesso saltuariamente. Anche il consumo di pesce
risulta limitato: il 72% dei bambini non lo mangia o lo assume
raramente. Solamente 6 bambini (8%) mangiano uova. Relativamente ai derivati del latte, yogurt e formaggi sono assunti rispettivamente dal 51% e 47% del campione. Il 63% prosegue con l’allattamento materno. Infine, 8 bambini bevono camomilla mentre nessun bambino assume tè.
Conclusioni
Complessivamente, nonostante sia all’inizio percorso alimentare, il campione presenta un’AC varia e sembra aderire alla dieta mediterranea,
raccomandata per adulti e bambini a partire dall’inizio
dello svezzamento. Si nota tuttavia ancora una certa prudenza nell’introduzione di alcuni cibi non supportata dalle LG più recenti.
Riguardo al ferro, ad esempio, le attuali LG europee raccomandano l’assunzione sia di carne che di legumi, ma il consumo di questi ultimi appare limitato. Non tutto il campione segue, inoltre, le raccomandazioni di non assumere fino ai 3 anni thè e camomilla perché tannino e altre sostanze riducono la biodisponibilità di ferro. Gli alimenti tradizionalmente considerati allergizzanti appaiono poco diffusi, nonostante l’indicazione di introdurli in tempi successivi sia ormai ampiamente superata. Interventi di Sanità pubblica mirati a fornire alla famiglia indicazioni sulla corretta alimentazione, varia e rispettosa dei contesti socioculturali, sempre aggiornate e in accordo con corretti modelli nutrizionali per la prima infanzia, potrebbero rappresentare un valido sostegno per pediatri e famiglie in una fase così delicata della crescita del bambino.
2022
- Antibiotic Exposure, Common Morbidities and Main Intestinal Microbial Groups in Very Preterm Neonates: A Pilot Study
[Articolo su rivista]
Bozzi Cionci, N.; Lucaccioni, L.; Pietrella, E.; Ficara, M.; Spada, C.; Torelli, P.; Bedetti, L.; Lugli, L.; Di Gioia, D.; Berardi, A.
abstract
Prematurity exposes newborns to increased risks of infections and it is associated with critical morbidities. Preterm infants often require antibiotic therapies that can affect the correct establishment of gut microbiota. The aim of this study was to investigate targeted intestinal bacteria in preterm neonates with common morbidities and receiving antibiotic treatments of variable duration. Stool samples were collected after birth, at 15, 30 and 90 days of life. qPCR quantification of selected microbial groups (Bifidobacterium spp., Bacteroides fragilis group, Enterobacteriaceae, Clostridium cluster I and total bacteria) was performed and correlation between their levels, the duration of antibiotic treatment and different clinical conditions was studied. An increasing trend over time was observed for all microbial groups, especially for Bifdobacterium spp. Prolonged exposure to antibiotics in the first weeks of life affected Clostridium and B. fragilis levels, but these changes no longer persisted at 90 days of life. Variations of bacterial counts were associated with the length of hospital stay, feeding and mechanical ventilation. Late-onset sepsis and patent ductus arteriosus reduced the counts of Bifidobacterium, whereas B. fragilis was influenced by compromised respiratory conditions. This study can be a start point for the identification of microbial biomarkers associated with some common morbidities and tailored strategies for a healthy microbial development.
2022
- Challenges in the growth and development of newborns with extra-uterine growth restriction
[Articolo su rivista]
Lucaccioni, L.; Iughetti, L.; Berardi, A.; Predieri, B.
abstract
Introduction: Extra-uterine growth restriction (EUGR) is a condition caused by the failure of very preterm infants to reach their potential growth during the NICU hospital stay. Despite enormous improvements in nutritional support and strategies, the growth pattern of preterm infants is still far from the one expected. Areas covered: This review focuses on what EUGR is, highlighting controversial aspects of this topic. EUGR is still missing a univocal definition, and the international debate is also open on what is the best growth chart to use. Moreover, professionals in NICU may not be trained on how to perform anthropometric measurements, increasing the risk of over- or underestimation, especially for length assessment. EUGR has recently been described as one of the main comorbidities in NICU, influencing growth, metabolism, and neurodevelopment later in life. Expert opinion: There is still much to investigate about what the best growth pattern in the NICU should be. What is known so far is that the majority of preterm neonates develop EUGR, and this leads to several short- and long-term consequences. It is imperative that neonatologists and pediatric endocrinologists work together, to modulate growth in the NICU.
2022
- Early-life exposure to phthalates among infants in Italy: characterization and time trends
[Abstract in Atti di Convegno]
Righi, E; Palandri, L; Ferrari, A; Barbieri, R; Lugli, C; Trevisani, V; Passini, E; Facchinetti, F; Lucaccioni, L
abstract
BACKGROUND AND AIM: Human exposure to phthalates, endocrine disruptors, and reproductive toxicants, is ubiquitous. Urine is the matrix of choice for biomonitoring and in utero exposure is well documented. Evidence of early life exposure to phthalates is scarce. The aim of this study is to assess phthalate exposure and its changes over time in a cohort of healthy infants in the province of Modena, Italy.
METHODS: In this prospective birth-cohort study, we assessed phthalate exposure(8 metabolites of 6 phthalates)in urine samples collected from mothers just after delivery and in infants at birth, 3 and 6 months using phthalate-free bags. Mother-infant pairs were enrolled in a university hospital in Modena(Italy) between January 2019 and May 2020. After solid-phase extraction, samples were analyzed by triple Quad LC/MS Mass
Spectrometry.
RESULTS: 188 mother-infant pairs were enrolled. MEP was always detectable and showed the highest levels, increasing over time. MMP and DEHP metabolites showed as well an increasing trend, however, they were detected at lower levels, while MnBP and MBzP showed intermediate concentrations and decreasing trends over time.
Significant associations between mother-infant pairs at birth were found only for a few metabolites(MMP, MEP, and MnBP). Infant levels at 3 and 6 months appeared more related, suggesting a continuative exposure to these chemicals inside the indoor environment.
CONCLUSIONS: Phthalate exposure appears wide and extended over time. Infants were exposed to several phthalates, including those more toxic and strictly regulated in infant toys, personal care products and food contact materials in the European Union. Their unregulated use in other consumers’products, building and
decorating materials or home furniture may explain the potential exposure of at-risk groups, such as infants or pregnant women. To effectively protect the most vulnerable subjects, public health preventive and regulatory actions should address this specific issue as well.
2022
- Early-life exposure to phthalates in a population of infants from the north of Italy: characterization and time trends
[Abstract in Rivista]
Lucaccioni, L; Righi, E; Trevisani, V; Passini, E; Palandri, L; Bruzzi, P; Predieri, B; Iughetti, L
abstract
Phthalates are ubiquitous environmental contaminants and endocrine-disrupting chemicals (EDCs). Nowadays, they are considered reproductive toxicants and in-utero exposure is well documented, although evidence of early life exposure is
scarce, and needs to be described. Aim of this study is to assess
phthalate exposure and its changes over the first months of life in a cohort of healthy full term infants and their mothers from a
restricted area of the north of Italy.
2022
- Esposizione a ftalati e accrescimento corporeo in bambini della Provincia di Modena: dati preliminari di uno studio di coorte prospettico.
[Abstract in Atti di Convegno]
Lugli, C; Barbieri, R; Lucaccioni, L; Arletti, M; Trevisani, V; Palandri, L; Righi, E
abstract
Gli ftalati sono composti ampiamente usati a livello industriale nella produzione di materie plastiche, prodotti per l’igiene personale e alcuni tipi di farmaci. L’esposizione prenatale a questi composti è ampiamente documentata e, data la loro potenziale attività di interferenti endocrini, indagini epidemiologiche suggeriscono un suo possibile ruolo sull’accrescimento corporeo dei neonati. Al contrario, il ruolo esercitato dall’esposizione peri e postnatale a ftalati sull’accrescimento dei bambini durante i primi mesi di vita è stato, fino ad ora, scarsamente valutato. L’obiettivo di questo studio è quello di valutare il potenziale effetto interferente dell’esposizione peri e postnatale a ftalati sull’accrescimento corporeo e le distanze anogenitali (AGD) misurate durante i primi 6 mesi di vita in una coorte di neonati sani e nati a termine nella provincia di Modena.
Presso il reparto di Ostetricia del Policlinico di Modena da Gennaio 2019 ad Ottobre 2020 sono state reclutate, previo rilascio del consenso informato, 187 coppie mamma-bimbo. L’esposizione peri e postnatale a ftalati è stata valutata dosando 8 metaboliti dei 6 ftalati di più ampio utilizzo in urine raccolte subito dopo il parto (madri e neonati) e a 3 e 6 mesi di vita dei bambini, nei quali contemporaneamente sono stati misurati principali parametri auxologici di accrescimento corporeo e le AGD.
Ad esclusione di MiNP, tutti i composti ricercati sono risultati ampiamente diffusi nelle urine raccolte nei diversi periodi di tempo. L’elaborazione preliminare dei dati evidenzia l’esistenza di correlazioni significative tra diversi parametri di accrescimento misurati nei bambini e diversi ftalati, in particolare con i livelli di MMP e MEP rilevati nelle urine delle mamme e dei bambini. Tali correlazioni si confermano anche nei mesi di vita successivi suggerendo un potenziale effetto prolungato nel tempo di questi composti sui parametri di accrescimento corporeo e AGD.
L’esposizione a ftalati appare molto diffusa nei neonati della provincia di Modena anche se a livelli ridotti rispetto a studi precedenti. Le preliminari associazioni evidenziate tra ftalati, accrescimento corporeo e AGD suggeriscono che anche l’esposizione peri e postnatale possano avere un effetto interferente sullo sviluppo somatico e sessuale dei bambini durante i primi mesi di vita. Risulta dunque importante pianificare strategie di promozione della salute della popolazione femminile in età fertile al fine di ridurre l’esposizione a queste sostanze non solo in gravidanza ma anche nelle prime e più vulnerabili fasi di crescita dei bambini.
2022
- Esposizione peri e postnatale a ftalati in una coorte di neonati della provincia di Modena: valutazioni preliminari.
[Abstract in Atti di Convegno]
Barbieri, R; Lugli, C; Ferrari, A; Lucaccioni, L; Passini, E; Palandri, L; Righi, E
abstract
Gli ftalati, composti utilizzati come plasticizzanti in molti prodotti di uso quotidiano, possono, nell’organismo umano, agire da interferenti endocrini alterando la funzionalità ormonale e causando effetti avversi sulla salute umana.
Le urine sono la matrice biologica più utilizzata per quantificare l’esposizione a ftalati in diversi momenti della vita; tuttavia, dati relativi all’esposizione nei primi mesi di vita dei bambini sono molto limitati. L’obiettivo dello studio è quindi quello di valutare l’esposizione a ftalati in un campione di neonati della Provincia di Modena e di
analizzarne la variabilità temporale attraverso campionamenti ripetuti nei primi 6 mesi di vita.
Da gennaio 2019 ad ottobre 2020 sono state arruolate 186 coppie madre-bambino ricoverate presso il reparto di Ostetricia del Policlinico di Modena. L’esposizione peri e postnatale a ftalati è stata valutata dosando 8 metaboliti dei 6 ftalati di più ampio utilizzo in urine raccolte subito dopo il parto (madri e neonati) e a 3 e 6 mesi di vita dei
bambini.
Ad esclusione di MiNP, tutti gli ftalati ricercati sono risultati ampiamente diffusi nelle urine raccolte nei diversi periodi di tempo. Alla nascita alcune correlazioni significative sono state osservate tra le concentrazioni di ftalati osservate nelle urine delle mamme e dei bambini; tuttavia, le concentrazioni dei singoli metaboliti tendono a differire e alcuni composti mostrano livelli più elevati nelle mamme e altri nei neonati. Anche i trend temporali sono apparsi differenti per i diversi composti: i livelli di MMP, MEP, MEHHP e MEOHP evidenziano infatti trend in crescita,
mentre i valori di MnBP e MBzP nello stesso arco temporale risultano ridotti.
L’esposizione a ftalati appare ancora molto diffusa nei neonati della provincia di Modena. La concentrazione degli ftalati nelle urine di mamme e bambini risulta diversa a seconda del metabolita analizzato e del momento di raccolta, evidenziando differenze espositive importanti tra mamme e bambini. Anche i trend temporali differenziati per metabolita indicano l’esistenza di fonti di esposizione differenziate che devono essere investigate con ulteriore attenzione. Queste informazioni saranno utili per pianificare efficaci strategie di promozione della salute indirizzate alle neomamme allo scopo di ridurre l’esposizione a queste sostanze in un periodo della vita dei loro
bambini particolarmente delicato e sensibile alle alterazioni indotte da potenziali interferenti endocrini.
2022
- Exposure to phthalates, potential endocrine disruptors, in an infant cohort in Modena, Italy
[Abstract in Rivista]
Lugli, C; Palandri, L; Ferrari, A; Barbieri, R; Trevisani, V; Passini, E; Lucaccioni, L; Facchinetti, F; Righi, E
abstract
Phthalates are pollutants ubiquitous in the environment. Human exposure to phthalates and their endocrine disrupting effects have been widely studied. Therefore, the European Union forbids phthalates in toys, cosmetic and kitchenware manufacturing. However, phthalate metabolites can still be found in human biological matrices. The purpose of this study is to investigate phthalate exposure over time in a group of Italian healthy newborns. In a prospective cohort study, we enlisted 187 women who gave birth in the University Hospital of Modena, Italy, between January 2019 and May 2020. Urine samples from women after delivery and from their infants at birth, 3 and 6 months were collected and 8 metabolites of 6 phthalates were analysed. Descriptive statistics were calculated and preliminary correlation coefficients tests were performed. Monoethylphthalate (MEP) was always detectable in urine samples. MEP, monomethylphthalate and diethylhexylphthalate
metabolites showed an increasing trend over time, while monobutylphthalate and monobenzylphthalate showed decreasing levels over time. Associations between levels of phthalates metabolites in mother and infant pairs at birth were
found for a few metabolites, while metabolites in infant samples at 3 and 6 months appeared often significantly associated. Infants’ phthalate exposure in Modena is still high and prolonged over time, even to those more toxic and strictly regulated. As phthalates presence in indoor environment can be a risk factor especially for the most fragile groups of population, such as children, public Health campaigns addressing childbearing age women should stress about the risk posed by these substances and how to avoid their exposure. Moreover, regulatory actions and a stricter legislation should be considered.
2022
- Foot-to-Foot Contact Among Initial Goal-Directed Movements Supports the Prognostic Value of Fidgety Movements in HIE-Cooled Infants
[Articolo su rivista]
Ferrari, F.; Bedetti, L.; Bertoncelli, N.; Roversi, M. F.; Della Casa, E.; Guidotti, I.; Ori, L.; D'Amico, R.; Valeri, L.; Lugli, L.; Lucaccioni, L.; Berardi, A.
abstract
Background: Few studies conducted to date have observed general movements in infants affected by hypoxic–ischemic encephalopathy (HIE) who underwent therapeutic hypothermia. We investigated whether foot-to-foot contact (FF) could support the predictive value of fidgety movements (FMs) in infants affected by HIE and treated with brain cooling. Methods: Spontaneous motility was video recorded for 3–5 min at 12 weeks post-term age in 58 full-term newborn infants affected by perinatal asphyxia who were cooled due to moderate to severe HIE. FF and FMs were blindly scored by three independent observers. At 24 months, each patient underwent a neurological examination by Amiel-Tison and Grenier. Results: At 24 months, 47 infants had developed typically at neurological examination, eight had developed mild motor impairment, and three developed cerebral palsy (CP). At 12 weeks, 34 (58.6%) infants had shown normal FMs, four of whom developed mild motor impairment. Twenty-four infants (41.4%) exhibited abnormal or no FMs, four of whom developed mild motor impairment and three developed CP. FF was present in 20 infants (34.5%), two of whom developed mild motor impairment. FF was absent in 38 infants (65.5%), six of whom developed mild motor impairment and three developed CP. Both FMs and FF, considered separately, were 100% sensitive for predicting CP at 24 months, but only 61 and 36%, respectively, were specific. Summing the two patterns together, the specificity increases to 73%, considering only CP as an abnormal outcome, and increases to 74% when considering CP plus mild motor impairment. Unexpectedly, fidgety movements were absent in 24 infants with typical motor outcomes, 17 of whom showed a typical motor outcome. Conclusions: FF is already part of motor repertoire at 12 weeks and allows a comparison of spontaneous non-voluntary movements (FMs) to pre-voluntary movements (FF). FF supports FMs for both sensitivity and specificity. A second video recording at 16–18 weeks, when pedipulation is present in healthy infants, is suggested: it may better define the presence or absence of goal-directed motility.
2022
- Maternal dietary adherence during pregnancy to recommendations: a cross-sectional study in Modena
[Abstract in Rivista]
De Pasquale, L; Palandri, L; Casalucci, Ma; Azzalini, D; Lucaccioni, L; Passini, E; Facchinetti, F; Righi, E
abstract
Background: Unbalanced nutrients intake and incorrect weight gain can lead to immediate and future adverse health consequences for
both mother and child. The Italian Society of Gynaecology and
Obstetrics (SIGO), has drawn up a series of nutritional
recommendations with the aim of promoting a correct food
intake for future mothers. The purpose of our study was to
assess adherence to good dietary indications during pregnancy
and to evaluate if voluptuary habits could play a role.
Methods: This cross-sectional study investigated dietary habits during the last trimester of pregnancy. We evaluated the adherence to dietary SIGO recommendations of a sample of pregnant
women representative of physiologic full-term pregnancies
(n = 572, mean age 33.4 5.2) living in Modena (Italy),
recruited between 2016 and 2020. Maternal diet during
pregnancy was assessed by a self-administered questionnaire
fill in at the hospital after childbirth, evaluating lifestyle habits
and usual food intake. Descriptive statistics and bivariate
associations (Chi-square tests) were performed.
Results: More than 50% of women did not comply with SIGO dietary recommendations. Overall, adherence was very low, ranging
between 8.4% (sweets) and 38.8% (seafood), for all food
categories, excluding coffee and tea (89%), alcohol (76.2%),
red wine (99.1%) and seasoning (olive oil 93.4%). Preliminary
results suggest that several factors and behaviours, including
BMI before pregnancy, age, smoking habits, education, are
associated with levels of adherence to different food categories.
Conclusions: Poor adherence to a proper dietary regimen during pregnancy is a missed opportunity for prevention and demonstrates the importance of promoting public health interventions to improve dietary recommendations adherence. Several initiatives, such as courses, information campaigns, use of social media and counselling can be useful for a nutrition education in pregnancy, raising awareness of the related benefits for both mother and child.
2022
- Multiple thrombosis of the cerebral venous sinuses, neonatal seizures, and minor parenchymal lesions: a case report and a review of the literature
[Articolo su rivista]
Bedetti, L.; Poluzzi, S.; Guidotti, I.; Lucaccioni, L.; Rota, C.; Cavalleri, F.; Pugliese, M.; Iughetti, L.; Lugli, L.; Berardi, A.
abstract
Background: Cerebral sinovenous thrombosis (CSVT) is a rare disease with potential catastrophic consequences. However, neonatal brain damage after venous injury and long-term neurologic outcomes have been poorly investigated. Some found an association between site and number of sinus occlusions, severity of lesions, clinical presentation and the neurodevelopmental outcome. Case presentation: We describe the case of a term newborn girl with multiple CSVT who presented with clonic seizures and who received early treatment with heparin. MRI scans showed a progressive recanalization of deep venous system, and only minor cerebral lesions were present at 3 months of life. Neurocognitive outcome was normal at 12 months of life. Conclusions: This case demonstrates that multiple CSVT presenting with severe seizures does not necessarily underlie major cerebral lesions or lead to severely abnormal neurodevelopmental outcome.
2022
- Neonatal septic shock, a focus on first line interventions
[Articolo su rivista]
Spaggiari, Valentina; Passini, Erica; Crestani, Sara; Roversi, Maria Federica; Bedetti, Luca; Rossi, Katia; Lucaccioni, Laura; Baraldi, Cecilia; Della Casa Muttini, Elisa; Lugli, Licia; Iughetti, Lorenzo; Berardi, Alberto
abstract
Septic shock is a main cause of morbidity and mortality in neonates. Septic shock evolves from compensated to uncompensated through 3 distinct phases. Prompt diagnosis is challenging, since neonatal septic shock may overlap with the physiological changes occurring at birth. The outcome of septic shock depends on a prompt recognition of symptoms and a strict adherence to cardiopulmonary resuscitation guidelines. Fluid administration plays a major role in the initial management of septic shock. If there is no response to volume filling, inotropes must be infused within one hour of onset (dopamine, dobutamine, adrenaline). Life-threatening infections require immediate and aggressive empiric use of antimicrobials. In the pediatric age, delay in antibiotic initiation for treating septic shock is associated with poor outcome and increased risk of mortality. There is a gap regarding first line interventions in neonatal septic shock. This review addresses initial interventions in the treatment of neonatal septic shock and discusses currently available evidences., These interventions may allow to improve the outcome if they are promptly carried out.
2022
- Polygraphic EEG Can Identify Asphyxiated Infants for Therapeutic Hypothermia and Predict Neurodevelopmental Outcomes
[Articolo su rivista]
Lugli, L.; Guidotti, I.; Pugliese, M.; Roversi, M. F.; Bedetti, L.; Della Casa Muttini, E.; Cavalleri, F.; Todeschini, A.; Genovese, M.; Ori, L.; Amato, M.; Miselli, F.; Lucaccioni, L.; Bertoncelli, N.; Candia, F.; Maura, T.; Iughetti, L.; Ferrari, F.; Berardi, A.
abstract
Background: Neonatal encephalopathy due to perinatal asphyxia is one of the leading causes of neonatal death and morbidity worldwide. The neurodevelopmental outcomes of asphyxiated neonates have considerably improved after therapeutic hypothermia (TH). The current challenge is to identify all newborns with encephalopathy at risk of cerebral lesions and subsequent disability within 6 h of life and who may be within the window period for treatment with TH. This study evaluated the neurodevelopmental outcomes in surviving asphyxiated neonates who did and did not receive TH, based on clinical and polygraphic electroencephalographic (p-EEG) criteria. Methods: The study included 139 asphyxiated newborns divided into two groups: 82 who received TH and 57 who were not cooled. TH was administered to asphyxiated newborns (gestational age ≥ 35 weeks, birth weight ≥ 1800 g) with encephalopathy of any grade and moderate-to-severe p-EEG abnormalities or seizures. Neurodevelopmental outcomes between the groups at 24 months of life and the risk factors for severe outcomes were assessed. Results: Severe neurodevelopmental impairment occurred in 10 (7.2%) out of the 139 enrolled neonates. Nine out of the 82 cooled neonates (11.0%) had severe neurodevelopmental impairment. All but one neonate (98.2%) who did not receive TH had normal outcomes. The multivariate logistic regression analysis showed that abnormal p-EEG patterns (OR: 27.6; IC: 2.8–267.6) and general movements (OR: 3.2; IC: 1.0–10.0) were significantly associated with severe neurodevelopmental impairment (area under ROC curve: 92.7%). Conclusion: The combination of clinical and p-EEG evaluations in hypoxic–ischemic encephalopathy contributed to a more accurate selection of patients treated with therapeutic hypothermia. When administered to infants with moderate to severe p-EEG abnormalities, TH prevents approximately 90% of severe neurodevelopmental impairment after any grade of hypoxic–ischemic encephalopathy.
2022
- SUBOPTIMAL ADHERENCE TO STATIN THERAPY IN CHILDREN AND ADOLESCENTS WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA DESPITE A HIGH THERAPEUTIC EFFICACY: IS THE CARDIOVASCULAR RISK UNDERESTIMATED?
[Abstract in Rivista]
Bruzzi, P.; Di Martino, M.; Di Caprio, A.; Trevisani, V.; Cattini, U.; Madeo, S. F.; Lucaccioni, L.; Predieri, B.; Iughetti, L.
abstract
Background. European guidelines currently support the initiation of statin by age 8-10 years in patients with heterozygous familial hypercholesterolemia (HeFH) to slow the progression of endothelial disfunction and to reduce the risk of cardiovascular disease in adulthood. However, to date, there is lack of data on adherence to statins in the paediatric population. Therefore, we describe our real-life paediatric experience about efficacy and adherence of
statin therapy.
Methods. This is a monocentric, observational study recruiting children and adolescents with genetically confirmed HeFH. Anthropometric measures, fasting lipid profile and therapeutic data were collected at diagnosis of HeFH [T0], on lipid-lowering diet [T1], four weeks after starting statin therapy [T2] and yearly during the first two years on statin [T3 and T4].
Results. 24 HeFH children and adolescents (17/24 female) were started on statin at a mean age of 13.77±3.09 years (12 on atorvastatin, 10 on pravastatin and 2 on simvastatin). On lipid-lowering diet, lipid metabolism did not change significantly [LDL-C 237.61±47.18 vs. 218.22±50.15 mg/dl, p 0.11], while on statin the improvement was quick and persistent [LDL-C T1 218.22±50.15, T2 163.85±27.64, T3 153.12±34.90, T4 156.37±34.11 mg/dl, p<0.05]. The mean reduction of LDL-C in comparison to baseline levels was: -34.68±12.99% at T2 and -30.42±20.78% at T4. Despite this efficacy and excluding one case of statin-intolerance, 9/23 patients (about 39%) dropped out after one year of statin therapy with a higher prevalence among families without an history of precocious cardio-vascular events (p <0.05).
Conclusions. We report an overall scarce adherence to statins in our paediatric HeFH population despite an efficacy in line with international data. GP involvement, a more effective communication with patients and their families to emphasize the high HeFH-related cardiovascular risk, and a periodic follow-up including telemedicine may be tools to achieve a better adherence.
2022
- The Kids Are Alright (?). Infants’ Development and COVID-19 Pandemic: A Cross-Sectional Study
[Articolo su rivista]
Ferrari, Eleonora; Palandri, Lucia; Lucaccioni, Laura; Talucci, Giovanna; Passini, Erica; Trevisani, Viola; Righi, Elena
abstract
Objectives: The study aimed to assess and compare the global development in six-month-old infants before and during the pandemic restrictive social distancing measures.
Methods: This cross-sectional nested study involved infants assessed through the Griffiths Scales of Child Development (GSCD) between September 2019 and April 2021. Infants were classified in a pre-COVID or a COVID group, considering the evaluation date and the restrictive measures in place. GSCD subscales and General Development Scores (GDS) were calculated and compared.
Results: One hundred and four healthy term-born infants were evaluated. GDS in the COVID group (n:70; median: 94; IQR: 90–100) appeared significantly lower than in the pre-COVID group (n:34; median: 98; IQR: 97–103; p < 0.001). Language and personal-social-emotional subareas scores appeared the most affected. A decreasing trend of GDS along with the severity of restriction was observed.
Conclusion: A reduction in infant development scores was observed during pandemic social distancing. Further studies are needed to systematize these findings and to address effective public health policies for infants and families during long-term forced isolation periods.
2022
- The impact of BMI on long-term anthropometric and metabolic outcomes in girls with idiopathic central precocious puberty treated with GnRHas
[Articolo su rivista]
Bruzzi, Patrizia; Valeri, Lara; Sandoni, Marcello; Madeo, Simona Filomena; Predieri, Barbara; Lucaccioni, Laura; Iughetti, Lorenzo
abstract
BackgroundGonadotropin-releasing hormone analogs (GnRHas) are effective in increasing the final height of children with idiopathic central precocious puberty (ICPP). However, in previous years, some transient metabolic complications have been described during this treatment, for which there are no long-term outcome data. Our study aimed to evaluate the efficacy of GnRHas and clarify if body mass index (BMI) at diagnosis of ICPP could influence long-term outcomes. MethodsThis was an observational, retrospective study that recruited a cohort of girls with ICPP. Data for anthropometric measures, fasting lipid profile, and glucose metabolism were collected at baseline [when GnRHas treatment started (T1)], at the end of the treatment (T2), and near-final height (nFH) or final height (FH) (T3). Predicted adult height (PAH) was calculated at T1 following Bayley and Pinneau's method. Analysis was carried out using BMI standard deviation score (SDS) categories at T1 (group A, normal weight, vs. group B, overweight/obese). ResultsFifty-seven girls with ICPP who were treated with GnRHas were enrolled in the study (group A vs. group B: 33 vs. 24 patients, aged 7.86 +/- 0.81 vs. 7.06 +/- 1.61 years, respectively; p < 0.05). In the study population, nFH/FH was in line with the target height (TH) (p = 0.54), with a mean absolute height gain of 11.82 +/- 5.35 cm compared with PAH. Even if the length of therapy was shorter (group A vs. group B: 1.84 +/- 2.15 vs. 2.10 +/- 0.81 years, respectively; p < 0.05) and the age at menarche was younger (group A vs. group B: 10.56 +/- 1.01 vs. 11.44 +/- 0.85 years, respectively; p < 0.05) in group B than in group A, the nFH/FH gain was still comparable between the two groups (p = 0.95). At nFH/FH, BMI SDS was still greater in group B than in group A (p = 0.012), despite the fact that BMI SDS significantly increased in group A only (p < 0.05). Glucose metabolism got worst during GnRHa with a complete restoring after it, independently from pre-treatment BMI. The ratio of low-density to high-density lipoprotein cholesterol transiently deteriorated during treatment with GnRHas in group A only (p = 0.030). ConclusionsOur results confirm the effectiveness of treatment with GnRHas on growth and do not support the concern that being overweight and obese can impair the long-term outcomes of GnRHas therapy. However, the observed transient impairment of metabolic parameters during treatment suggests that clinicians should encourage ICPP girls treated with GnRHas to have a healthy lifestyle, regardless of their pretreatment BMI.
2022
- Use of urinary gonadotropins for the evaluation of the minipubertal profile in term newborns and infants within the first six months of age
[Abstract in Rivista]
Lucaccioni, L; Trevisani, V; Passini, E; Palandri, L; Bruzzi, P; Predieri, B; Righi, E; Iughetti, L
abstract
The activation of the hypothalamus-pituitarygonadal
(HPG) axis during the first months both in males(M) and
females(F) is named as minipuberty. Urinary gonadotropins
(uGn) represent an unexpensive and non-invasive method of
assessing pubertal development and they have recently been used also for studying minipuberty.
Aims of this study are: 1) to describe the urinary hormonal pattern
(uLH, uFSH, testosterone – uT, oestradiol-uE) during minipuberty
in a group of healthy full-term infants. 2) to identify the relationship between urinary hormone levels and environmental
factors, anthropometric measurements, anogenital distances
(AGD).
2022
- Valutazione dell’impatto della pandemia sullo stress genitoriale nella provincia di Modena: primi risultati di uno studio cross-sectional
[Abstract in Rivista]
Fasano, M; Palandri, L; Casalucci, Ma; De Pasquale, L; Barbieri, R; Ferrari, E; Ferrari, A; Rizzi, C; Talucci, G; Lucaccioni, L; Righi, E
abstract
Introduzione
Le restrizioni sociali dovute alla pandemia hanno avuto un impatto sul benessere psicologico delle famiglie, soprattutto in presenza di bambini molto piccoli.
Lo scopo di questo studio è di valutare lo stress genitoriale prima e durante la pandemia come misurato dal Parenting Stress Index-Short Form (PSI-SF), questionario validato e standardizzato per genitori di bambini tra 1 mese e 12 anni.
Materiali e metodi
Tra settembre 2019 e maggio 2021, 80 genitori di bambini di
circa 6 mesi nati sani al Policlinico di Modena hanno compilato il questionario PSI-SF. Nel PSI-SF, il punteggio di Stress Totale (TS) viene determinato sommando i punteggi delle tre sottoscale: “Distress genitoriale” (PD, distress percepito dal genitore nell’esercitare il proprio ruolo), “Interazione genitore-bambino disfunzionale” (P-CDI, che riflette la qualità del rapporto percepito genitore-figlio), e “Bambino difficile” (DC, che descrive quanto un genitore ritenga il proprio figlio di difficile gestione). Un’ulteriore scala indipendente, “Risposta difensiva” (DIF), misura la tendenza del genitore a fornire una rappresentazione di sé più favorevole. Il campione è stato stratificato in pre-COVID e COVID a seconda che la valutazione abbia avuto luogo prima o dopo l’introduzione del lockdown nella provincia di Modena (04/03/2020).
Risultati
I punteggi mediani (IQR) di TS registrati nel periodo pre-COVID e COVID risultano simili e rispettivamente pari a 64(25) e 63,50(27). Tuttavia, il 6% dei soggetti nel gruppo pre-COVID presenta punteggi di TS sopra range di normalità contro il 15% del gruppo COVID, dei quali il 71% raggiunge punteggi indicativi di livelli di stress clinicamente significativo.
Un lieve aumento dei punteggi mediani delle sottoscale P-CDI e DC nel gruppo COVID vs pre-COVID e una lieve riduzione dei punteggi nella sottoscala PD sono stati osservati. Tuttavia, nella sottoscala PD si osserva un aumento di valori sopra range di normalità dal 11,8% nei pre-COVID al 19,6% nei COVID. Infine, nel periodo COVID si osserva una riduzione della percentuale di DIF eccessiva (6,5%) rispetto al pre-COVID (20,6%).
Conclusioni
I risultati dello studio suggeriscono un possibile impatto della
pandemia sullo stress genitoriale che sembra influenzare principalmente la percezione di inadeguatezza che il genitore ha di sé e sembra determinare una maggiore presa di coscienza della difficoltà del ruolo genitoriale.
Ulteriori studi mirati a monitorare la salute mentale delle fasce più fragili, come neogenitori, nei periodi di particolare stress per le famiglie come la pandemia COVID-19, sono necessari per identificare le più efficaci strategie di supporto alle famiglie da mettere in atto.
2022
- Valutazione dell’incremento ponderale e delle abitudini alimentari in gravidanza in una coorte di donne della Provincia di Modena alla luce delle raccomandazioni della Società Italiana di Ginecologia e Ostetricia (SIGO)
[Abstract in Atti di Convegno]
Azzalini, D; Palandri, L; Ferrari, E; Monti, M; Lucaccioni, L; Trevisani, V; Maione, D; Righi, E
abstract
Durante la gravidanza un aumento ponderale inadeguato e un’alimentazione carente in frutta e verdura possono rappresentare una potenziale causa di esiti materno-fetali sfavorevoli. La Società Italiana di Ginecologia e Ostetricia (SIGO) ha definito degli intervalli di incremento ponderale in gravidanza sulla base del Body Mass Index (BMI)
pregravidico e ha raccomandato di assumere almeno 5 porzioni di frutta e verdura al giorno.
Da gennaio 2019 a ottobre 2020, 177 puerpere hanno compilato, presso il reparto di Ostetricia dell’Azienda Ospedaliero-Universitaria di Modena, un questionario mirato alla valutazione di stile di vita, abitudini alimentari durante la gravidanza e anamnesi fisiologico-ostetrica dal quale sono state estrapolate informazioni relative a BMI pregravidico, incremento ponderale registrato in gravidanza e numero di porzioni di frutta e verdura assunte al giorno.
L’incremento ponderale gravidico è stato esaminato per valutare se fosse conforme o meno alle raccomandazioni SIGO. Nel campione stratificato in base al BMI e all’incremento ponderale in gravidanza, è stato valutato il numero di porzioni di frutta e verdura assunte al giorno.
Il 67.8% delle donne presentava un BMI pregravidico indicativo di normopeso. Tuttavia dai dati è emerso come, in alcune categorie, l’incremento ponderale non sia stato in linea con le raccomandazioni SIGO. In particolare, nelle donne con BMI pregravidico indicativo di sottopeso (8.5%) l’incremento ponderale è stato inferiore al raccomandato (<12.5 kg) mentre nelle donne con BMI indicativo di sovrappeso (15.3%) e di obesità (8.5%) è stato eccessivo rispetto alle raccomandazioni (>11.4 e >9.1 kg, rispettivamente). Considerando l’assunzione quotidiana di frutta e verdura, essa è risultata inferiore alle 3 porzioni al giorno nella quasi totalità delle donne, indipendentemente dal BMI pregravidico e dall’entità dell’incremento ponderale registrato in gravidanza.
L’entità dell’incremento ponderale in gravidanza dovrebbe essere oggetto di maggiori attenzioni da parte dei professionisti della salute materno-fetale, in particolare nelle donne il cui BMI pregravidico è indice di sottopeso, di sovrappeso o di obesità, ovvero in quelle categorie caratterizzate da un incremento ponderale non in linea con le
raccomandazioni SIGO. Dai dati emerge inoltre come si rendano necessari interventi mirati alla promozione della salute attraverso una maggiore assunzione di frutta e verdura da parte delle donne durante la gravidanza, in modo che questo particolare periodo possa costituire un’opportunità per il miglioramento del proprio stile di vita.
2022
- “A casa tutto bene?” Valutazione dell’impatto delle restrizioni sociali sul quoziente di sviluppo neuro-cognitivo di una coorte di bambini e considerazioni post-pandemiche.
[Abstract in Atti di Convegno]
Ferrari, E; Palandri, L; Lucaccioni, L; Passini, E; Monti, M; Azzalini, D; Righi, E
abstract
L’avvento del virus SARS-CoV-2 ha modificato la quotidianità delle famiglie ed è cruciale indagare il potenziale impatto delle restrizioni sociali legate al contenimento della pandemia sulla crescita dei bambini. La finalità dello studio è quindi quella di descrivere il livello di sviluppo raggiunto all’età di 6 mesi da una coorte di bambini sani
residenti nella provincia di Modena, visitati in parte prima e in parte dopo lo scoppio della pandemia, attraverso le scale Griffiths III, uno strumento validato per la valutazione del profilo evolutivo di neonati e bambini fino ai 6 anni.
Si tratta di uno studio trasversale condotto su una coorte di bambini sani arruolati presso il Policlinico di Modena, nell’ambito di un più ampio studio di coorte prospettico.
I punteggi ottenuti mediante le scale Griffiths III, che analizzano 5 aree evolutive chiave (basi dell’apprendimento, linguaggio e comunicazione, coordinazione oculo-manuale, abilità personali-sociali-emotive, abilità grosso-motorie) sono stati stratificati in due periodi di tempo (pre e post-COVID) in base alla data di valutazione (pre o post il
29/2/2020).
104 bambini sani nati a termine con età mediana di 6 mesi (IQR 6-7) sono stati inclusi nello studio; 34 soggetti sono stati valutati prima del 29/02/2020, 70 dopo il 1/03/2020.
Il valore medio del quoziente di sviluppo (QS) globale è risultato pari a 95,56 (DS ±7,99) e presenta differenze significative nei bambini esaminati nei due periodi considerati (99,7 vs 93,4).
I QS nei domini dello sviluppo motorio e delle basi dell’apprendimento sono risultati nella maggioranza dei bambini sopra la media o nella media dei punteggi nazionali indicativi di sviluppo regolare e non hanno presentato differenze importanti nei due periodi di tempo considerati. Al contrario, i QS nelle scale relative alle abilità sociali
appaiono in una percentuale importante di bambini sotto la media dei punteggi nazionali e risultano particolarmente ridotti nel gruppo post-COVID, nel quale il QS medio è di circa 10 punti inferiore rispetto a quello del gruppo pre-COVID.
Le abilità sociali dei bambini di 6 mesi valutati in questo studio sembrano essere fortemente impattate dai periodi di isolamento domestico imposti dalla pandemia. È opportuno valutare se tale tendenza si confermi nel tempo e se sia effettivamente legata alle restrizioni dettate dall’emergenza sanitaria in corso, allo scopo di identificare eventuali interventi correttivi sulla popolazione esaminata e di progettare futuri interventi mirati a prevenire difficoltà di sviluppo neuro-cognitivo in neonati legate alla pandemia.
2021
- Antibiotic use in very low birth weight neonates after an antimicrobial stewardship program
[Articolo su rivista]
Berardi, A.; Zinani, I.; Rossi, C.; Spaggiari, E.; D'Amico, V.; Toni, G.; Bedetti, L.; Lucaccioni, L.; Iughetti, L.; Lugli, L.
abstract
There is insufficient data regarding antimicrobial stewardship (AS) and outcomes of very low birth weight (VLBW) neonates after AS programs. This observational, retrospective study addressed AS and outcomes of VLBW neonates admitted to an Italian level-three center. Two periods were compared: (i) baseline, before AS (January 2011-December 2012) and (ii) intervention, after AS (January 2016-December 2017). Between these two periods, procedures were put in place to inform medical and nursing staff regarding AS. There were 111 and 119 VLBW neonates in the baseline (6744 live births) and in the intervention period (5902 live births), respectively. The number of infants exposed to antibiotics (70%) during the hospital stay did not change, but the total days of therapy (DOT, median 12 vs. 5) and DOT/1000 patient days (302 vs. 215) decreased in the intervention period (p < 0.01), as well as the median duration of first antibiotic treatment (144 vs. 48 h, p < 0.01). A re-analysis of single cases of culture-proven or culture-negative sepsis failed to demonstrate any association between deaths and a delay or insufficient antibiotic use in the intervention period. In conclusion, AS is feasible in preterm VLBW neonates and antibiotic use can be safely reduced.
2021
- Arresto di crescita nei primi mesi di vita: quando l’ipolipidemia e la steatorrea fanno diagnosi.
[Abstract in Atti di Convegno]
Poluzzi, Silvia; Bruzzi, Patrizia; Trevisani, Viola; Lucaccioni, Laura; Predieri, Barbara; Madeo, Simona Filomena; Tagliafico, Enrico; Iughetti, Lorenzo
abstract
2021
- Brain cooling reduces the risk of post-neonatal epilepsy in newborns affected by moderate to severe hypoxic-ischemic encephalopathy
[Articolo su rivista]
Lugli, Licia; Balestri, Eleonora; Berardi, Alberto; Guidotti, Isotta; Cavalleri, Francesca; Todeschini, Alessandra; Pugliese, Marisa; Muttini Della Casa, Elisa; Lucaccioni, Laura; Ferrari, Fabrizio
abstract
Neonatal hypoxic-ischemic encephalopathy is still a significant cause of neonatal death and neurodevelopmental disabilities, such as cerebral palsy, mental delay, and epilepsy. After the introduction of therapeutic hypothermia, the prognosis of hypoxic-ischemic encephalopathy has improved, with reduction of death and disabilities. However, few studies evaluated whether hypothermia affects rate and severity of post-neonatal epilepsy. We evaluated rates, characteristics and prognostic markers of post-neonatal epilepsy in infants with moderate to severe hypoxic-ischemic encephalopathy treated or not with therapeutic hypothermia.
2021
- Brief comments on three existing approaches for managing neonates at risk of early-onset sepsis
[Articolo su rivista]
Vaccina, E.; Luglio, A.; Ceccoli, M.; Lecis, M.; Leone, F.; Zini, T.; Toni, G.; Lugli, L.; Lucaccioni, L.; Iughetti, L.; Berardi, A.
abstract
Background: Growing concerns regarding the adverse effects of antibiotics during the first days of life and the marked reduction in the incidence of early-onset sepsis (EOS) are changing the clinical practice for managing neonates at risk of EOS. Strategies avoiding unnecessary antibiotics while promoting mother-infant bonding and breastfeeding deserve to be considered. Main body: We compare strategies for managing newborns at risk of EOS recommended by the American Academy of Pediatrics, which are among the most followed recommendations worldwide. Currently three different approaches are suggested in asymptomatic full-term or late preterm neonates: i) the conventional management, based on standard perinatal risk factors for EOS alone, ii) the neonatal sepsis calculator, a multivariate risk assessment based on individualized, quantitative risk estimates (relying on maternal risk factors for EOS) combined with physical examination findings at birth and in the following hours and iii) an approach entirely based on newborn clinical condition (serial clinical observation) during the first 48 h of life. We discuss advantages and limitations of these approaches, by analyzing studies supporting each strategy. Approximately 40% of infants who develop EOS cannot be identified on the basis of maternal RFs or laboratory tests, therefore close monitoring of the asymptomatic but at-risk infant remains crucial. A key question is to know what proportion of babies with mild, unspecific symptoms at birth can be managed safely without giving antibiotics. Conclusions: Both neonatal sepsis calculator and serial clinical observation may miss cases of EOS, and clinical vigilance for all neonates is essential There is a need to assess which symptoms at birth are more predictive of EOS, and therefore require immediate interventions, or symptoms that can be carefully reevaluated without necessarily treat immediately the neonate with antibiotics. Studies comparing strategies for managing neonates are recommended.
2021
- Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG
[Articolo su rivista]
Lugli, L.; Bariola, M. C.; Ferri, L.; Lucaccioni, L.; Bertucci, E.; Cattini, U.; Torcetta, F.; Morrone, A.; Iughetti, L.; Berardi, A.
abstract
Congenital disorders of glycosylation (CDG) are an expanding group of metabolic disorders that result from abnormal protein glycosylation. A special subgroup of CDG type II comprises defects in the Conserved Oligomeric Golgi Complex (COG). In order to further delineate the genotypic and phenotypic spectrum of COG complex defect, we describe a novel variant of COG6 gene found in homozygosity in a Moroccan patient with severe presentation of COG6-CDG (OMIM #614576). We compared the phenotype of our patient with other previously reported COG6-CDG cases. Common features in COG6-CDG are facial dysmorphism, growth retardation, microcephaly, developmental disability, liver or gastrointestinal disease, recurrent infections, hypohidrosis/hyperthermia. In addition to these phenotypic features, our patient exhibited a disorder of sexual differentiation, which has rarely been reported in COG6-CDG. We hypothesize that the severe COG6 gene mutation interferes with glycosylation of a disintegrin and metalloprotease family members, inhibiting the correct gonadal distal tip cells migration, fundamental for the genitalia morphogenesis. This report broadens the genetic and phenotypic spectrum of COG6-CDG and provides further supportive evidence that COG6-CDG can present as a disorder of sexual differentiation.
2021
- Health-related quality of life and metabolic control in young patients with type 1 diabetes and in their parents before and after the COVID-19 lockdown
[Abstract in Rivista]
Predieri, B.; Bruzzi, P.; Candia, F.; Caccamo, P.; Sandoni, M.; Stefanelli, F.; Pugliese, M.; Lucaccioni, L.; Madeo, S. F.; Iughetti, L.
abstract
Introduction: Since the beginning of the COVID-19 pandemic, concerns for consequences in patients with type 1 diabetes (T1D) were raised.
Objectives: To compare the diabetes-specific health-related quality of life (D-HRQOL) of youths with T1D and their parents before and after the COVID-19-related lockdown.
Methods: The Pediatric Quality of Life Inventory™ 3.0 Diabetes Module (PedsQL™ 3.0 DM) was used to evaluate the D-HRQOL. Patients who filled the D-HRQOL before lockdown (Dec-19–Feb-20; T0) were recruited in the study and filled the same survey immediately after the lockdown was stopped (Jun-20; T1) during a routine outpatient or telemedicine visit.
Results: Sixty-two patients (median age: 12.6 [5.25-17.8] yrs; T1D duration 4.23 [0.45- 16.4] yrs) with T1D and their parents (60 mothers, 10 fathers) were enrolled. Patients' scales scores did not significantly change from T0 to T1. Mothers significantly increased their Diabetes symptoms scale score (median 67.0 vs. 70.4; p=0.007). Data were also analyzed according to visit type (outpatient vs. telemedicine), glucose monitoring (SBGM vs. isCGM vs. rtCGM), and insulin therapy (MDI vs. CSII), but D-HRQOL data were longitudinally comparable and no difference was found between groups. During lockdown no DKA, severe hypoglycemic events, and SARS-CoV-2 were recorded. Despite the significant decrease of exercise (median 3.25 vs. 0.50 h/week; p<0.0001), median glycemic control (HbA1c 58.5 vs. 57.9 mmol/mol) and total daily insulin dose (0.86 vs. 0.82 IU/kg/day) were unchanged. At T1, the lower the HbA1c, the better patients' Diabetes symptoms (R=-0.41, p<0.001), Worry (R=-0.27, p=0.032) scales, and total scores (R=-0.33, p=0.009). Similar results were found in parents.
Conclusions: During COVID-19 pandemic-related lockdown the D-HRQOL did not change in children and adolescents with T1D and their parents. Our data may be possibly related to staying at home, making diabetes managements easier and also allowing the maintenance of good glycemic control without acute complications.
2021
- Heart failure caused by VGAM: a lesson for diagnosis and treatment from a case and literature review
[Articolo su rivista]
Spada, C.; Pietrella, E.; Caramaschi, E.; Bergonzini, P.; Berardi, A.; Lucaccioni, L.; Iughetti, L.
abstract
We describe the case of a neonate with signs of heart failure. Echocardiography showed a structural normal heart shape with left ventricular dysfunction. At 2 months of age, a vein of Galen arteriovenous malformation was diagnosed through a brain magnetic resonance imaging. Embolization therapy was accomplished and a clinical and neurological follow-up was started. This clinical case highlights how important it is considering an intracranial cause in the differential diagnosis of neonatal congestive heart failure (CHF). We performed a narrative minireview of the literature about treatments and outcome of this malformation in association to CHF, to point out how complex the diagnosis of vein of Galen aneurysmal malformation (VGAM) may be and how an early diagnosis is important for its management.
2021
- Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings
[Articolo su rivista]
Lugli, L.; Ciancia, S.; Bertucci, E.; Lucaccioni, L.; Calabrese, O.; Madeo, S.; Berardi, A.; Iughetti, L.
abstract
Cartilage hair hypoplasia syndrome (OMIM # 250250) is a rare autosomal recessive metaphyseal dysplasia, characterized by disproportionate short stature, hair hypoplasia and variable extra-skeletal manifestations, including immunodeficiency, anemia, intestinal diseases and predisposition to cancers. Cartilage hair hypoplasia syndrome has a broad phenotype and it is caused by homozygous or compound heterozygous mutation in the mitochondrial RNA-processing endoribonuclease on chromosome 9p13. Although it is well known as a primordial dwarfism, descriptions of the prenatal growth are missing. To add further details to the knowledge of the phenotypic spectrum of the disease, we report on two siblings with cartilage hair hypoplasia syndrome, presenting n.64C > T homozygous mutation in the mitochondrial RNA-processing endoribonuclease gene. We describe the prenatal and postnatal growth pattern of the two affected patients, showing severe pre- and post-natal growth deficiency.
2021
- Hypospadias: clinical approach, surgical technique and long-term outcome
[Articolo su rivista]
Ceccarelli, P. L.; Lucaccioni, L.; Poluzzi, F.; Bianchini, A.; Biondini, D.; Iughetti, L.; Predieri, B.
abstract
Background: Hypospadias is one of the most common congenital abnormalities in male newborn. There is no universal approach to hypospadias surgical repair, with more than 300 corrective procedures described in current literature. The reoperation rate within 6–12 months of the initial surgery is most frequently used as an outcome measure. These short-term outcomes may not reflect those encountered in adolescence and adult life. This study aims to identify the long-term cosmetic, functional and psychosexual outcomes. Methods: Medical records of boys who had undergone surgical repair of hypospadias by a single surgical team led by the same surgeon at a single centre between August 2001 and December 2017 were reviewed. Families were contacted by telephone and invited to participate. Surgical outcome was assessed by combination of clinical examination, a life-related interview and 3 validated questionnaires (the Penile Perception Score-PPS, the Hypospadias Objective Score Evaluation-HOSE, the International Index of Erectile Function-5-IIEF5). Outcomes were compared according to age, severity of hypospadias, and respondent (child, parent and surgeon). Results: 187 children and their families agreed to participate in the study. 46 patients (24.6%) presented at least one complication after the repair, with a median elapsed time of 11.5 months (6.5–22.5). Longitudinal differences in surgical corrective procedures (p < 0.01), clinical approach (p < 0.01), hospitalisation after surgery (p < 0.01) were found. Cosmetic data from the PPS were similar among children and parents, with no significant differences in child’s age or the type of hypospadias: 83% of children and 87% of parents were satisfied with the cosmetic result. A significant difference in functional outcome related to the type of hypospadias was reflected responses to HOSE amongst all groups of respondents: children (p < 0.001), parents (p=0.02) and surgeon (p < 0.01). The child’s HOSE total score was consistently lower than the surgeon (p < 0.01). The HOSE satisfaction rate on functional outcome was 89% for child and 92% for parent respondents. Conclusion: Surgeons and clinicians should be cognizant of the long-term outcomes following hypospadias surgical repair and this should be reflected in a demand for a standardised approach to repair and follow-up.
2021
- Incidental pituitary adenoma detection in two patients affected by Williams Syndrome: only a coincidence?
[Abstract in Rivista]
Ciancia, Silvia; Madeo, Simona F.; Cattini, Umberto; Bruzzi, Patrizia; Lucaccioni, Laura; Predieri, Barbara; Iughetti, Lorenzo
abstract
2021
- Long term outcomes of infants born by mothers with thyroid dysfunction during pregnancy
[Articolo su rivista]
Lucaccioni, L.; Ficara, M.; Cenciarelli, V.; Berardi, A.; Predieri, B.; Iughetti, L.
abstract
According to Barker’s hypothesis, sub-optimal conditions during gestation might affect the pre-disposition for diseases in adulthood. Alteration in endocrine functions during pregnancy, such us thyroid function or glucose metabolism, are not exempt. It is well known that subclinical hypothyroidism and thy-roperoxidase antibodies-positive euthyroidism during early pregnancy are associated with increased risk of gestational diabetes mellitus and both conditions influence pregnancy outcome and newborn development and metabolism at short and long terms. Fetal production of thyroid hormones starts from the 12th week of gestational age. The transplacental passage of maternal thyroxine (T4) is therefore essential for the fetal neu-rological development, especially during the first half of pregnancy. If this passage is interrupted, such as in premature birth, neonates are more susceptible to develop impaired thyroid function, because of physiological immaturity of their hypothalamic-pituitary-thyroid axis, acute illnesses and stressful events (sepsis, invasive procedures, drugs). The aim of this review is to investigate the short and long term effects of maternal dysthy-roidisms on term and preterm newborns, with particular attention to the metabolic and thyroid consequences. Metabolic syndrome, higher body mass index and greater waist circumference, seem to be more prevalent in children of TPO-Ab-positive mothers. Maternal hypothyroidism may be associated with higher risk of gestational diabetes and adverse birth outcomes, such as preeclampsia, preterm delivery, fetal death and low birth weight offspring. In adulthood, preterm (< 37 weeks of gestational age) or low birth weight (<2.500 g) newborns seem to be more susceptible to develop gestational diabetes, preeclampsia, type 2 diabetes mellitus and behavioral alterations. (www.actabiomedica.it).
2021
- Maternal carriage in late-onset group b streptococcus disease, Italy
[Articolo su rivista]
Berardi, A.; Spada, C.; Creti, R.; Auriti, C.; Gambini, L.; Rizzo, V.; Capretti, M.; Laforgia, N.; Papa, I.; Tarocco, A.; Lanzoni, A.; Biasucci, G.; Piccinini, G.; Nardella, G.; Latorre, G.; Merazzi, D.; Travan, L.; Reggiani, M. L. B.; Baroni, L.; Ciccia, M.; Lucaccioni, L.; Iughetti, L.; Lugli, L.
abstract
We retrospectively investigated mother-to-infant transmission of group B Streptococcus (GBS) in 98 cases of lateonset disease reported during 2007-2018 by a network in Italy. Mothers with full assessment of vaginal/rectal carriage tested at prenatal screening (APS) and at time of late onset (ATLO) were included. Thirty-three mothers (33.7%) were never GBS colonized; 65 (66.3%) were vaginal/rectal colonized, of which 36 (36.7%) were persistently colonized. Mothers with vaginal/rectal colonization ATLO had high rates of GBS bacteriuria (33.9%) and positive breast milk culture (27.5%). GBS strains from mother- infant pairs were serotype III and possessed the surface protein antigen Rib. All but 1 strain belonged to clonal complex 17. GBS strains from 4 mother-infant pairs were indistinguishable through pulsed-fi eld gel electrophoresis. At least two thirds of late-onset cases are transmitted from mothers, who often have vaginal/rectal carriage, positive breast milk culture, or GBS bacteriuria, which suggests heavy maternal colonization.
2021
- Minipuberty: Looking Back to Understand Moving Forward
[Articolo su rivista]
Lucaccioni, L.; Trevisani, V.; Boncompagni, A.; Marrozzini, L.; Berardi, A.; Iughetti, L.
abstract
Hypothalamic-pituitary-gonadal (HPG) axis activation occurs three times in life: the first is during fetal life, and has a crucial role in sex determination, the second time is during the first postnatal months of life, and the third is with the onset of puberty. These windows of activation recall the three windows of the “Developmental Origin of Health and Disease” (DOHaD) paradigm and may play a substantial role in several aspects of human development, such as growth, behavior, and neurodevelopment. From the second trimester of pregnancy there is a peak in gonadotropin levels, followed by a decrease toward term and complete suppression at birth. This is due to the negative feedback of placental estrogens. Studies have shown that in this prenatal HPG axis activation, gonadotropin levels display a sex-related pattern which plays a crucial role in sex differentiation of internal and external genitalia. Soon after birth, there is a new increase in LH, FSH, and sex hormone concentrations, both in males and females, due to HPG re-activation. This postnatal activation is known as “minipuberty.” The HPG axis activity in infancy demonstrates a pulsatile pattern with hormone levels similar to those of true puberty. We review the studies on the changes of these hormones in infancy and their influence on several aspects of future development, from linear growth to fertility and neurobehavior.
2021
- Natural history of congenital hypothyroidism in the last two decades: what is changing? Experience of a single tertiary Italian paediatric centre
[Abstract in Rivista]
Bruzzi, Patrizia; Donini, Valentina; Ciancia, Silvia; Lucaccioni, Laura; Predieri, Barbara; Iughetti, Lorenzo
abstract
2021
- Neuroprem 2: An Italian Study of Neurodevelopmental Outcomes of Very Low Birth Weight Infants
[Articolo su rivista]
Lugli, L.; Bedetti, L.; Guidotti, I.; Pugliese, M.; Picciolini, O.; Roversi, M. F.; DellaCasa Muttini, E.; Lucaccioni, L.; Bertoncelli, N.; Ancora, G.; Gargano, G.; Mosca, F.; Sandri, F.; Corvaglia, L. T.; Solinas, A.; Perrone, S.; Stella, M.; Iughetti, L.; Berardi, A.; Ferrari, F.
abstract
Background: Despite the increased survival of preterm newborns worldwide, the risk of neurodevelopmental disabilities remains high. Analyzing the outcomes of the preterm population can identify risk factors and enable specific early interventions. Aims: Neuroprem is a prospective cohort study of very low birth weight (VLBW) infants that aims to evaluate the neurodevelopmental outcomes and risk factors for severe functional disability at 2 years of corrected age. Methods: Nine Italian neonatal intensive care units participated in the network. The Griffiths Mental Developmental Scales (GMDS-R) or the Bayley Scales of Infant and Toddler Development (BSDI III) and a neuro-functional evaluation (according to the International Classification of Disability and Health and Neuro-Functional Assessment, or NFA ICF-CY) were administered to VLBW infants at 24 months of corrected age. The primary outcome measure was severe functional disability, defined as cerebral palsy, bilateral blindness, deafness, an NFA ICF-CY of >2, a BSDI III cognitive composite score of <2 SD, or a GMDS-R global quotient score of <2 SD. Perinatal risk factors for severe functional disability were assessed through multivariate logistic regression analysis. Results: Among 502 VLBW survivors who completed the 24-month follow-up, 48 (9.6%) presented severe functional disability, of whom 27 had cerebral palsy (5.4%). Rates of severe functional disability and cerebral palsy were higher in neonates with a lower gestational age (p < 0.001). Overall, 147 infants (29.3%) were referred to neuromotor intervention. In the multivariate regression model, gestational age at birth OR 0.79; 95% CI 0.67–0.90; p = 0.001) and periventricular-intraventricular hemorrhage (OR 2.51; 95% CI 1.19–5.26; p = 0.015) were significantly associated with severe functional disability. Conclusion: Neuroprem 2 provides updated information on the neurodevelopmental outcomes of VLBW infants in a large Italian cohort. The overall rate of neurodevelopmental disabilities was quite lower than reported in the previous literature. These data indicate the need for structured follow-up programs from a national neonatal network perspective.
2021
- Occhio all’asimmetria toracica alla nascita... e se fosse la sindrome di Poland?.
[Articolo su rivista]
Di Caprio, A; Bedetti, L; Madeo, Sf; Lucaccioni, L; Roversi, F; Iughetti, L; Berardi, A.
abstract
Poland syndrome is a rare congenital disorder characterized by agenesis of the pectoralis major muscle. It is usually unilateral and right-sided and can be associated with several thoracic and upper limb defects. Early diagnosis and timely therapeutic approaches play an important role, improving the quality of life of patients and their families. This case report aims to show the benefits of early diagnosis, especially for follow-up management.
2021
- Perinatal exposure to phthalates: From endocrine to neurodevelopment effects
[Articolo su rivista]
Lucaccioni, L.; Trevisani, V.; Passini, E.; Righi, B.; Plessi, C.; Predieri, B.; Iughetti, L.
abstract
Phthalates, as other endocrine disrupting chemicals (EDCs), may alter the homeostasis and the action of hormones and signaling molecules, causing adverse health outcomes. This is true especially for infants, who are both more exposed and sensitive to their effects. Phthalates are particularly harmful when the exposure occurs during certain critical temporal windows of the development, such as the prenatal and the early postnatal phases. Phthalates may also interfere with the neuroendocrine systems (e.g., thyroid hormone signaling or metabolism), causing disruption of neuronal differentiation and maturation, increasing the risk of behavioral and cognitive disorders (ADHD and autistic behaviors, reduced mental, psychomotor, and IQ development, and emotional problems). Despite more studies being needed to better understand the role of these substances, plenty of evidence suggests the impact of phthalates on the neuroendocrine system development and function. This review aims to update the knowledge on the neuroendocrine consequences of neonatal and perinatal exposure to phthalates.
2021
- Pneumococcal septic shock after neonatal respiratory syncytial virus bronchiolitis: A case report and literature review
[Articolo su rivista]
Di Caprio, A.; Coccolini, E.; Zagni, P.; Vaccina, E.; Lucaccioni, L.; Lugli, L.; Iughetti, L.; Berardi, A.
abstract
Background: Bronchiolitis is a common cause of hospitalisation of infants less than a year old, with most infants recovering without complications. Respiratory syncytial virus (RSV) is a leading cause of bronchiolitis. Antimicrobial stewardship programmes do not recommend antibiotics for viral infections in neonates unless documented evidence of secondary bacterial infection is present. Case report: We present the case of a 7-day-old infant admitted to hospital with chest retractions and fever. The baby was hospitalised, empirical antibiotic therapy was administered, and non-invasive ventilation was started. When the viral aetiology was identified and clinical conditions improved, antibiotics were discontinued. However, after 48 hours, the newborn’s condition worsened because of pneumococcal septic shock. Intravenous fluids, catecholamine support, and wide-spectrum antibiotics were administered. Non-invasive ventilation was re-started and continued until the full recovery. Conclusions: There is increasing evidence that RSV and S. pneumoniae co-infect and interact with each other, thus increasing respiratory diseases’ severity. We provide a brief overview of the main international guidelines for managing bronchiolitis. Guidelines suggest avoidance of antibiotics use when the diagnosis of viral bronchiolitis is confirmed. We discuss the uncertainties regarding antibiotic use, especially in younger infants, who are more exposed to risks of bacterial superinfection. (www.actabiomedica.it).
2021
- Polycystic ovary syndrome in pediatric obesity and diabetes
[Articolo su rivista]
Dondi, E.; Tufano, M.; Vigone, M. C.; Lucaccioni, L.; Pozzobon, G.; Ubertini, G.; Mozzillo, E.; Delvecchio, M.
abstract
Polycystic ovary syndrome is characterized by anovulation (amenorrhea, oligomenorrhea, irregular menstrual cycles) combined with symptoms of androgen excess (hirsutism, acne, alopecia). The clear definition and diagnosis in adolescents could be challenging considering that most of symptoms occur as part of the expected physiological hormonal imbalance of puberty. therefore, different diagnostic criteria have been elaborated. Polycystic ovary syndrome could be associated to obesity, diabetes mellitus, and metabolic syndrome. in adolescents with polycystic ovary syndrome, adiposity is associated with higher androgen concentrations and greater menstrual irregularity. Polycystic ovary syndrome in youth is considered a risk factor for type 2 diabetes mellitus in adulthood. On the other hand, increased prevalence of polycystic ovary syndrome has been shown in type 1 diabetes mellitus. the treatment of polycystic ovary syndrome in adolescents is controversial considering that adequate trials are lacking. First-line treatment comprises lifestyle modification (preferably multicomponent including diet, exercise and behavioral strategies) that should be recommended overall in the patients with polycystic ovary syndrome and overweight, central obesity and insulin resistance. Beyond non-pharmacological therapy, pharmacological agents include combined hormonal contraceptives, metformin and anti-androgens, used separately or in combination. the aim of therapy is to bring back ovulation, to normalize menses, to reduce hirsutism and acne, to reduce weight. Other important goal is the treatment of hyperlipidemia and of hyperglycemia. this narrative review aimed to review the most pertinent literature about polycystic ovary syndrome in adolescents with obesity or diabetes. We overviewed the diagnostic criteria, the pathophysiology and the possible treatment approaches.
2021
- QUALITÀ DI VITA E CONTROLLO METABOLICO NEI BAMBINI ED ADOLESCENTI CON DIABETE DI TIPO 1 E NEI LORO GENITORI PRIMA E DOPO IL LOCKDOWN PER COVID-19.
[Abstract in Atti di Convegno]
Predieri, Barbara; Bruzzi, Patrizia; Candia, Francesco; Caccamo, Paola; Sandoni, Marcello; Stefanelli, Francesca; Pugliese, Marisa; Lucaccioni, Laura; Madeo, Simona F.; Iughetti, Lorenzo
abstract
2021
- SEPTIC SHOCK in the FIRST THREE MONTHS of LIFE
[Articolo su rivista]
Crestani, S.; Passini, E.; Spaggiari, V.; Toffoli, C.; Boncompagni, A.; Bedetti, L.; Spaggiari, E.; Lucaccioni, L.; Lugli, L.; Roversi, F.; Rossi, K.; Iughetti, L.; Berardi, A.
abstract
Shock is a generalized tissue hypoperfusion that leads to severe cellular distress and complicates some cases of paediatric and neonatal sepsis. Although a reduction in associated sepsis mortality has been observed in the last decades, it remains one of the most important causes of death or long-term neurodevelopmental disabilities in children. Prompt recognition of this condition is therefore essential to improve survival and long-term outcome. The paediatrician and the neonatologist must therefore be able to promptly recognize the signs and symptoms of sepsis and septic shock to set up an adequate treatment according to the most recent international guidelines. This article provides epidemiological data from Italian and international studies, describes the pathophysiology and clinical manifestations of sepsis and septic shock, as well as the therapeutic indications according to very recent recommendations.
2021
- Safety and Success of Lumbar Puncture in Young Infants: A Prospective Observational Study
[Articolo su rivista]
Bedetti, L.; Lugli, L.; Marrozzini, L.; Baraldi, A.; Leone, F.; Baroni, L.; Lucaccioni, L.; Rossi, C.; Roversi, M. F.; D'Amico, R.; Iughetti, L.; Berardi, A.
abstract
Objective: This study aims to evaluate safety and success rates of lumbar puncture (LP) and to identify factors associated with adverse events or failure of LP in infants. Methods: This two-center prospective observational study investigated infants younger than 90 days of age who underwent LP. Need for resuscitation oxygen desaturation (SpO2 < 90%), bradycardia and intraventricular hemorrhage were considered adverse events. LP failed if cerebrospinal spinal fluid was not collected or had traces of blood. Logistic regression analysis was used to evaluate whether corrected gestational age (GA), body weight at LP, position, and any respiratory support during LP affected SpO2 desaturation or failure of LP. Results: Among 204 LPs, 134 were performed in full-term and 70 in pre-term born infants. SpO2 desaturations occurred during 45 (22.4%) LPs. At multivariate analysis, lower GA at LP (p < 0.001), non-invasive respiratory support (p 0.007) and mechanical ventilation (p 0.004) were associated with SpO2 desaturations. Transient, self-resolving bradycardia occurred in 7 (3.4%) infants. Two infants had intraventricular hemorrhage detected within 72 h of LP. No further adverse events were registered. Failure of LP occurred in 38.2% of cases and was not associated with any of the factors evaluated. Conclusions: LP was safe in most infants. Body weight or GA at LP did not affect LP failure. These data are useful to clinicians, providing information on the safety of the procedure.
2021
- Storia naturale dell’ipotiroidismo congenito: cosa è cambiato negli ultimi vent’anni?
[Abstract in Atti di Convegno]
Bruzzi, Patrizia; Ciancia, Silvia; Donini, Valentina; Lucaccioni, Laura; Madeo, Simona Filomena; Predieri, Barbara; Iughetti, Lorenzo
abstract
2021
- The discharge of children with medical complexity: an 11-year study in an italian neonatal intensive care unit
[Articolo su rivista]
Lugli, L.; Garetti, E.; Rossi, K.; Torcetta, F.; Cuomo, G.; Lucaccioni, L.; Pugliese, M.; Bertoncelli, N.; Rossi, C.; Riva, M.; Iughetti, L.; Ferrari, F.; Berardi, A.
abstract
Background - In the last few years care for children with severe chronic conditions is a topic of increasing interest. Children with chronic illness often require a high complexity of care and a high level of coordination among health services. Objective - The primary aim of this study is the assessment of children with chronic disease and high complexity of care (children with medical complexity), discharged from the Neonatal Intensive Care Unit (NICU) of Modena University-Hospital. The secondary aim is to assess the outcome of these patients. Methods - Patients with chronic diseases and high complexity of care (children with medical complexity), aged 0-6 months, and admitted to the NICU of Modena in the years 2009-2019 were recruited. Results - 59 subjects were included, of which 15 (25.4%) were born preterm, 11 (18.6%) suffered from hypoxic-ischemic encephalopathy, 33 (56%) had genetic diseases or malformations. All patients were discharged home, except for one patient who was discharged to hospice. The average hospital length of stay was 116.0 ± 63.4 days. Follow-up visits showed that 25 cases (42.4%) remained unchanged, 18 (30.5%) improved and 16 (27.1%) died. Conclusion - This study allows an assessment of patients with early diagnosis of chronic disease with high complexity of care, showing that some of these patients could be eligible for palliative care. The management of children with medical complexity requires diagnostic-therapeutic programmes that focus on them and their families and connect hospital and territorial health services.
2021
- The ontogeny of limbs movements towards midline in healthy infants born at term
[Articolo su rivista]
Lucaccioni, Laura; Bertoncelli, Natascia; Comini, Martina; Martignoni, Laura; Coscia, Alessandra; Lugli, Licia; Righi, Elena; Iughetti, Lorenzo; Berardi, Alberto; Ferrari, Fabrizio
abstract
Background: Movements towards midline are part of the age-adequate motor repertoire of infants. They develop contemporaneously to general movements, changing from occasional simple contact to proper midline motor patterns.
Aim: The aim of this study is to describe the ontogeny of movements towards midline in full term healthy infants.
Study design:Parents were asked to record their infant every second week, from term age to 22 weeks post-term.
Subjects:25 healthy full-term infants.
Result: Three main epochs of development were detected: in the first one, between birth and 4 weeks post-term, movements towards midline were occasional, apparently due to the dominant flexed posture of elbow and knees and the adducted posture of shoulders and hips. In the second epoch, from 4 to 8 weeks, the limbs movements towards midline markedly decreased. In the third one, after 8 weeks, movements towards midline increased again in frequency, first appearing in lower limbs then in upper limbs, first solely as contact and thereafter as manipulation. A temporal overlapping with the occurrence of intermittent or continual fidgety movements was detected.
Conclusions: Movements towards midline progressively change, through a defined timeline, in full term healthy infants. The increased knowledge about the normal age-adequate motor repertoire can help physicians in clinical assessment of high risk infants.
2021
- Understanding factors in group b streptococcus late-onset disease
[Articolo su rivista]
Berardi, A.; Trevisani, V.; Di Caprio, A.; Bua, J.; China, M.; Perrone, B.; Pagano, R.; Lucaccioni, L.; Fanaro, S.; Iughetti, L.; Lugli, L.; Creti, R.
abstract
Group B streptococcus (GBS) infection remains a leading cause of sepsis, pneumonia, and meningitis in infants. Rates of GBS early onset disease have declined following the widcespread use of intrapartum antibiotic prophylaxis; hence, late-onset infections (LOGBS) are currently a common presentation of neonatal GBS dicsease. The pathogenesis, mode of transmission, and risk factors associated with LOGBS are unclear, which interfere with effective prevention efforts. GBS may be transmitted from the mother to the infant at the time of delivery or during the postpartum period via contaminated breast milk, or as nosocomial or community-acquired infection. Maternal GBS colonization, pre-maturity, young maternal age, HIV exposure, and ethnicity (Black) are identified as risk factors for LOGBS disease; however, further studies are necessary to confirm additional risk factors, if any, for the implementation of effective prevention strategies. This narrative review discusses current and previous studies that have reported LOGBS. Few well-designed studies have described this condition; therefore, reliable assessment of maternal GBS colonization, breastfeeding, and twin delivery as risk factors for LOGBS remains limited.
2021
- Uso delle gonadotropine urinarie per la valutazione del profilo minipuberale in neonati e lattanti di sesso maschile
[Abstract in Atti di Convegno]
Lucaccioni, Laura; Trevisani, Viola; Righi, Beatrice; Passini, Erica; Di Caprio, Antonella; Bruzzi, Patrizia; Madeo, Simona Filomena; Predieri, Barbara; Righi, Elena; Iughetti, Lorenzo
abstract
2020
- An Uninfected Preterm Newborn Inadvertently Fed SARS-CoV-2-Positive Breast Milk
[Articolo su rivista]
Lugli, Licia; Bedetti, Luca; Lucaccioni, Laura; Gennari, William; Leone, Chiara; Ancora, Gina; Berardi, Alberto
abstract
2020
- COVID-19 and Type 1 Diabetes: Concerns and Challenges
[Articolo su rivista]
Trevisani, Viola; Bruzzi, Patrizia; Madeo, Simona; Cattini, Umberto; Lucaccioni, Laura; Predieri, Barbara; Iughetti, Lorenzo
abstract
Due to the current COVID-19 pandemic, worldwide population's lifestyle has changed dramatically, causing psychosocialconsequences. Patients presenting a preexisting chronic condition, as Type 1 Diabetes (T1D), are the ones suffering the most from this situation. Moreover, people affected by diabetes are the ones with the worst prognosis, if infected by SARS-CoV-2. We analyzed why patients with T1D were poorly represented between the subjects hospitalized for COVID-19 and why the cases of diabetic ketoacidosis (DKA) were fewerand more severe compared with the past years. Furthermore, literature has showed howpatients of all ages with T1D did not experience a deterioration in their glucose control throughout the lockdown. Among other causes, this is also due tothe surging use of telemedicine. Finally, we tried to understand how the coronavirus tropism for endocrine tissues could influence the future epidemiology of T1D, focusing on the effects they have on pancreatic beta-cells.
2020
- Changes of intestinal microbiota in early life
[Articolo su rivista]
Ficara, Monica; Pietrella, Elisa; Spada, Caterina; Casa Muttini Elisa, Della; Lucaccioni, Laura; Iughetti, Lorenzo; Berardi, Alberto
abstract
There is increasing evidence that the intestinal microbiota plays a pivotal role in the maturation of the immune system and in the prevention of diseases occurring during the neonatal period, childhood and adulthood. A number of nonphysiological conditions during the perinatal period (ie caesarean section, prolonged hospitalization, formula feeding, low gestational age) may negatively affect the normal development of the microbiota, leading to decreased amounts of lactobacilli and bifidobacteria and increased amounts of Clostridia . In addition, perinatal antibiotics can cause intestinal dysbiosis that has been associated with short- and long-term diseases. For example, prolonged early empiric antibiotics increase the risk of necrotizing enterocolitis and late-onset sepsis in preterm neonates, whereas the administration of intrapartum antibiotic prophylaxis has been associated with inflammatory bowel diseases, obesity and atopic conditions, such as eczema and wheezing. Promoting breastfeeding, reducing the length of hospital stay, and reducing unnecessary antibiotic therapies are useful strategies to counterbalance unintended effects of these conditions.
2020
- Child growth, neurodevelopment and pre and postnatal exposure to phthalates: first exposure data
[Abstract in Rivista]
Maione, D; Lucaccioni, L; Arletti, M; Panciroli, G; Poluzzi, F; Ferrari, A; Facchinetti, F; Fantuzzi, G; Righi, E
abstract
2020
- Clinical expression of endocrine disruptors in children
[Articolo su rivista]
Iughetti, Lorenzo; Lucaccioni, Laura; Street, Maria E; Bernasconi, Sergio
abstract
Health status is the result of complex interaction between individual factors, general environmental factors and specific factors as nutrition or the presence of chemicals. Aim of this review is to point out the more recent knowledge covering the role of the endocrine disrupting chemical (EDC) on pediatric population wellbeing.
2020
- Clinical utility of urinary gonadotrophins in hypergonadotrophic states as Turner syndrome
[Articolo su rivista]
Boncompagni, A.; Mcneilly, J.; Murtaza, M.; Lucaccioni, L.; Iughetti, L.; Wong, S. C.; Mason, A.
abstract
Girls with Turner syndrome (TS) are at an increased risk of primary ovarian insufficiency (POI). Good correlation between serum and urinary gonadotrophins exists in children assessed for disorders of puberty, but there is little evidence of their reliability in hypergonadotropic states. To determine whether there was a correlation between serum and urinary Luteinising Hormone (uLH) and Follicle-Stimulating Hormone (uFSH) in hypergonadotrophic states, and whether uFSH could suggest an ovarian failure in TS as Anti-Mullerian Hormone (AMH). Retrospective cohort study of 37 TS girls attending the paediatric TS clinic in Glasgow between February 2015 and January 2019, in whom 96 non-timed spot urine samples were available with a median age at time of sample of 12.89 years (3.07-20.2 years). uLH and uFSH were measured by chemiluminescent microparticle immunoassay. Simultaneous serum gonadotrophins and AMH were available in 30 and 26 girls, respectively. AMH <4 pmol/L was considered indicative of ovarian failure. A strong correlation was found between serum LH and uLH (r 0.860, P<0.001) and serum FSH and uFSH (r 0.905, p<0.001). Among patients≥10 years not on oestrogen replacement, ROC curve identified uFSH as a reasonable marker for AMH<4 pmol/L uFSH of >10.85 U/L indicates an AMH <4 pmol/L with 75% sensitivity and 100 % specificity (AUC 0.875)with similar ability as serum FSH (AUC 0.906). uLH and uFSH are non-invasive, useful and reliable markers of ovarian activity in hypergonadotropic states as TS. uFSH could provide an alternative to AMH (in centres which are limited by availability or cost) in revealing ovarian failure and requirement for oestrogen replacement in pubertal induction.
2020
- Endocrine Disrupting Chemicals and Type 1 Diabetes
[Articolo su rivista]
Predieri, Barbara; Bruzzi, Patrizia; Bigi, Elena; Ciancia, Silvia; Madeo, Simona F.; Lucaccioni, Laura; Iughetti, Lorenzo
abstract
Type 1 diabetes (T1D) is the most common chronic metabolic disease in children and
adolescents. The etiology of T1D is not fully understood but it seems multifactorial. The genetic
background determines the predisposition to develop T1D, while the autoimmune process against
-cells seems to be also determined by environmental triggers, such as endocrine disrupting chemicals
(EDCs). Environmental EDCs may act throughout dierent temporal windows as single chemical
agent or as chemical mixtures. They could aect the development and the function of the immune
system or of the beta-cells function, promoting autoimmunity and increasing the susceptibility to
autoimmune attack. Human studies evaluating the potential role of exposure to EDCs on the
pathogenesis of T1D are few and demonstrated contradictory results. The aim of this narrative review
is to summarize experimental and epidemiological studies on the potential role of exposure to EDCs in
the development of T1D.We highlight what we know by animals about EDCs’ eects on mechanisms
leading to T1D development and progression. Studies evaluating the EDC levels in patients with T1D
were also reported. Moreover, we discussed why further studies are needed and how they should be
designed to better understand the causal mechanisms and the next prevention interventions.
2020
- Endocrine-disrupting chemicals and their effects during female puberty: A review of current evidence
[Articolo su rivista]
Lucaccioni, L.; Trevisani, V.; Marrozzini, L.; Bertoncelli, N.; Predieri, B.; Lugli, L.; Berardi, A.; Iughetti, L.
abstract
Puberty is the process of physical changes between childhood and adulthood during which adolescents reach sexual maturity and become capable of reproduction. It is considered one of the main temporal windows of susceptibility for the influence of the endocrine-disrupting chemicals (EDCs). EDCs may act as single chemical agents or as chemical mixtures; they can be pubertal influencers, accelerating and anticipating the processing of maturation of secondary sexual characteristics. Moreover, recent studies have started to point out how exposure to EDCs during puberty may predispose to breast cancer later in life. In fact, the estrogen-mimicking endocrine disruptors (EEDs) may influence breast tissue development during puberty in two main ways: the first is the action on the proliferation of the breast stromal cells, the second concerns epigenetic mechanisms. The aim of this mini-review was to better highlight what is new and what is not completely known regarding the role of EDCs during puberty.
2020
- Glycemic Control Improvement in Italian Children and Adolescents With Type 1 Diabetes Followed Through Telemedicine During Lockdown Due to the COVID-19 Pandemic
[Articolo su rivista]
Predieri, B.; Leo, F.; Candia, F.; Lucaccioni, L.; Madeo, S. F.; Pugliese, M.; Vivaccia, V.; Bruzzi, P.; Iughetti, L.
abstract
Background/Objective: To minimize the wide spread of coronavirus disease (COVID-19) pandemic, Italy was placed in an almost complete lockdown state that forced people to “stay at home”. Aim of this study was to evaluate the effects of lockdown on glycemic control in children and adolescents with type 1 diabetes (T1D) followed through telemedicine. Subjects/Methods: This observational study involved patients with T1D using the real-time continuous glucose monitoring (CGM) Dexcom G6®. Ambulatory glucose profile data from the 3-months before schools closure (November 26, 2019–February 23, 2020; T0) and from the 3-months of consecutive lockdown (February 24–May 18, 2020; T1) were compared. Results: Sixty-two children and adolescents (11.1 ± 4.37 years, 50% males) with T1D (median time disease 3.67 years) were enrolled in the study. Insulin total daily dose was unchanged, while time spent on physical activities was decreased (p<0.0001). Despite the lack of statistical significance, median value of the glucose management indicator decreased from 7.4% to 7.25%. Glucose standard deviation (p<0.0001) and coefficient of variation (p=0.001) improved across the study. Median time in range increased from 60.5% to 63.5% (p=0.008), time above range decreased from 37.3% to 34.1% (p=0.048), and time below range decreased from 1.85% to 1.45% (p=0.001). Conclusions: Overall, in our children and adolescents with T1D glycemic control improved during lockdown. Despite patients were confined to their homes and limited to exercise, our data suggest that the use of real-time CGM, the continuous parental management, and the telemedicine can display beneficial effects on T1D care.
2020
- Health-Related Quality of Life and Metabolic Control in Immigrant and Italian Children and Adolescents with Type 1 Diabetes and in their Parents
[Articolo su rivista]
Predieri, Barbara; Bruzzi, Patrizia; Bigi, Elena; Boncompagni, Alessandra; Bocchi, Federica; Cenciarelli, Valentina; Madeo, Simona F; Poluzzi, Silvia; Pugliese, Marisa; Toffoli, Carlotta; Lucaccioni, Laura; Iughetti, Lorenzo
abstract
Objective: To determine if the diabetes-specific health-related quality of life (D-HRQOL) of young people with type 1 diabetes (T1D) and their parents is influenced by migrant status.
Subjects and methods: One hundred and twenty-five patients (12.4±3.55 years, males 53.6%) with T1D and their parents (102 mothers, 37 fathers) were enrolled and categorized into: Group A (both foreign parents) and Group B (both native Italian parents). The Pediatric Quality of Life Inventory™ 3.0 Diabetes Module (PedsQL™ 3.0 DM) was used to evaluate the D-HRQOL. Data on diabetic ketoacidosis (DKA) at T1D onset, insulin therapy, and glycosylate hemoglobin (HbA1c) were also collected.
Results: Group A (n=40), compared to Group B (n=85), had higher frequency of DKA at T1D onset (p<0.001) and a lower use of sensor augmented insulin pump (p=0.015). HbA1c values were higher in Group A than in Group B (p<0.001). Patients' "Diabetes symptoms" (p=0.004), "Treatment barriers" (p=0.001), and "Worry" (p=0.009) scales scores were lower in Group A than in Group B. Mothers of Group A had lower scores in "Diabetes symptoms" (p=0.030), "Treatment barriers" (p<0.001), "Treatment adherence" (p=0.018), "Communication" (p=0.009) scales, and total score (p=0.011) compared to the Group B ones. High PedsQL™ 3.0 DM was significantly associated with being Italian, being pre-pubertal, and having lower HbA1c mean levels.
Conclusions: Being a migrant confers disadvantages in terms of D-HRQOL and metabolic control in children and adolescents with T1D. Specific educational interventions should be considered in the clinical care of patients with migration background, to improve D-HRQOL and health status.
2020
- Intrapartum beta-lactam antibiotics for preventing group B streptococcal early-onset disease: can we abandon the concept of ‘inadequate’ intrapartum antibiotic prophylaxis?
[Articolo su rivista]
Berardi, A.; Spada, C.; Vaccina, E.; Boncompagni, A.; Bedetti, L.; Lucaccioni, L.
abstract
Introduction: Neonatal sepsis remains a serious and potentially fatal illness. Intrapartum antibiotic prophylaxis (IAP) prevents group B streptococcal (GBS) early-onset sepsis. The optimal duration of IAP (adequate IAP) to reduce vertical transmission of GBS has been debated. Understanding the mechanism of action of IAP may help in minimizing neonatal evaluation and unnecessary antibiotic use. Areas covered: In recent years, several studies on pharmacokinetics and clinical use of IAP have been published. Although penicillin and ampicillin are the most preferred antibiotics, the clinical efficacy of non-beta-lactam antibiotics, including clindamycin and vancomycin, used in cases of penicillin anaphylaxis-associated allergy, remains debatable. This is a narrative review of the literature regarding the impact of ‘inadequate’ IAP on the clinical management of women and newborns. Expert opinion: Recent evidence suggests that ‘inadequate’ IAP with beta-lactams is more effective in preventing vertical transmission of GBS than previously thought. Newborns exposed to intrapartum beta-lactams and who are asymptomatic at birth are likely uninfected, irrespective of IAP duration before delivery. Hence, we may abandon the concept of ‘inadequate’ IAP with beta-lactams in early-onset GBS sepsis, relying primarily on clinical signs observed at birth for managing IAP-exposed neonates.
2020
- Overwhelming sepsis in a neonate affected by Zellweger syndrome due to a compound heterozygosis in PEX 6 gene: a case report
[Articolo su rivista]
Lucaccioni, L.; Righi, B.; Cingolani, G. M.; Lugli, L.; Della Casa, E.; Torcetta, F.; Iughetti, L.; Berardi, A.
abstract
Background: Peroxisome biogenesis disorders (PBDs) are a group of metabolic diseases caused by dysfunction of peroxisomes. Different forms of PBDs are described; the most severe one is the Zellweger syndrome (ZS). We report on an unusual presentation of Zellweger syndrome manifesting in a newborn with severe and fulminant sepsis, causing death during the neonatal period. Case presentation: A term male Caucasian neonate presented at birth with hypotonia and poor feeding associated with dysmorphic craniofacial features and skeletal abnormalities. Blood tests showed progressive leukopenia; ultrasounds revealed cerebral and renal abnormalities. He died on the fourth day of life because of an irreversible Gram-negative sepsis. Post-mortem tests on blood and urine samples showed biochemical alterations suggestive of ZS confirmed by genetic test. Conclusions: ZS is an early and severe forms of PBDs. Peroxisomes are known to be involved in lipid metabolism, but recent studies suggest their fundamental role in modulating immune response and inflammation. In case of clinical suspicion of ZS it is important to focus the attention on the prevention and management of infections that can rapidly progress to death.
2020
- Risk factors for group B streptococcus early-onset disease: an Italian, area-based, case-control study
[Articolo su rivista]
Berardi, Alberto; Spada, Caterina; Creti, Roberta; Ambretti, Simone; Chiarabini, Rossana; Barozzi, Agostino; Pagano, Rossella; Sarti, Mario; Pedna, Maria Federica; Fornaciari, Sara; Azzalli, Milena; Dodi, Icilio; Bacchi Reggiani, Maria Letizia; Lanzoni, Angela; Vaccina, Eleonora; Iughetti, Lorenzo; Lucaccioni, Laura
abstract
Purpose: Intrapartum antibiotic prophylaxis (IAP) prevents group B streptococcus (GBS) early-onset disease (EOD). No European study evaluates the relative impact of risk factors (RFs) for EOD after a screening-based strategy and widespread IAP use We aimed to evaluate the risks of EOD in an Italian region where a screening-based strategy for preventing EOD was implemented. Materials and methods: Cases of EOD born at or above 35 weeks' gestation were reviewed and matched with controls. Results: There were 109 cases of EOD among 532,154 live births. Most cases had negative GBS prenatal screening (56/91, 61.5%) and were unexposed to IAP (86/109, 78.9%). At multivariate analysis, GBS bacteriuria (OR = 6.99), positive prenatal screening (OR = 13.7) and maternal intrapartum fever (OR = 188.3) were associated with an increased risk of EOD, whereas intrapartum beta-lactam antibiotics were associated with a decreased risk of EOD (≥4 h: OR = 0.008; <4 h: OR = 0.04). Neonates born to nonfebrile, GBS positive pregnant women, receiving beta-lactam antibiotics had very low probability of EOD, particularly if IAP was adequate. Conclusions: GBS positive prenatal screening, GBS bacteriuria and intrapartum fever are associated with EOD. Intrapartum beta-lactam antibiotics reduce the probability of EOD in neonates born to nonfebrile mothers.
2020
- Serial clinical observation for management of newborns at risk of early-onset sepsis
[Articolo su rivista]
Berardi, Alberto; Bedetti, Luca; Spada, Caterina; Lucaccioni, Laura; Frymoyer, Adam
abstract
Current management approaches for asymptomatic neonates at risk of early onset sepsis remain controversial. Strategies based entirely on clinical observation (SCO, serial clinical observation) have gained consensus.
2020
- The "perfect" storm: Current evidence on pediatric inflammatory multisystem disease during SARS-CoV-2 pandemic
[Articolo su rivista]
Lami, Francesca; Scalabrini, Ilaria; Lucaccioni, Laura; Iughetti, Lorenzo
abstract
Current data suggest that during the global pandemic of COVID 19 children are less affected than adults and most of them are asymptomatic or with mild symptoms. However, recently, cases of pediatric patients who have developed severe inflammatory syndrome temporally related to SARS-CoV-2 have been reported both in USA and Europe. These reports, although sharing features with other pediatric syndromes such as Kawasaki disease (KD), Kawasaki disease shock syndrome (KDSS), macrophage activated syndrome (MAS) and shock toxic syndrome (TSS), seem to outline a novel entity syndrome, characterized by cytokine storm with elevated inflammatory markers and typical clinical finding. Clinical characteristics are greater median age than KD, higher frequency of cardiac involvement and gastrointestinal symptoms, lower frequency of coronary anomalies. We report a summary of the current evidence about clinical features, pathogenesis, therapy strategies and outcome of this novel syndrome.
2019
- Cerebral Palsy: Early Markers of Clinical Phenotype and Functional Outcome
[Articolo su rivista]
Einspieler, Christa; Bos, Arend F; Krieber-Tomantschger, Magdalena; Alvarado, Elsa; Barbosa, Vanessa M; Bertoncelli, Natascia; Burger, Marlette; Chorna, Olena; Del Secco, Sabrina; DeRegnier, Raye-Ann; Hüning, Britta; Ko, Jooyeon; Lucaccioni, Laura; Maeda, Tomoki; Marchi, Viviana; Martín, Erika; Morgan, Catherine; Mutlu, Akmer; Nogolová, Alice; Pansy, Jasmin; Peyton, Colleen; Pokorny, Florian B; Prinsloo, Lucia R; Ricci, Eileen; Saini, Lokesh; Scheuchenegger, Anna; Silva, Cinthia R D; Soloveichick, Marina; Spittle, Alicia J; Toldo, Moreno; Utsch, Fabiana; van Zyl, Jeanetta; Viñals, Carlos; Wang, Jun; Yang, Hong; Yardımcı-Lokmanoğlu, Bilge N; Cioni, Giovanni; Ferrari, Fabrizio; Guzzetta, Andrea; Marschik, Peter B
abstract
The Prechtl General Movement Assessment (GMA) has become a cornerstone assessment in early identification of cerebral palsy (CP), particularly during the fidgety movement period at 3-5 months of age. Additionally, assessment of motor repertoire, such as antigravity movements and postural patterns, which form the Motor Optimality Score (MOS), may provide insight into an infant's later motor function. This study aimed to identify early specific markers for ambulation, gross motor function (using the Gross Motor Function Classification System, GMFCS), topography (unilateral, bilateral), and type (spastic, dyskinetic, ataxic, and hypotonic) of CP in a large worldwide cohort of 468 infants. We found that 95% of children with CP did not have fidgety movements, with 100% having non-optimal MOS. GMFCS level was strongly correlated to MOS. An MOS > 14 was most likely associated with GMFCS outcomes I or II, whereas GMFCS outcomes IV or V were hardly ever associated with an MOS > 8. A number of different movement patterns were associated with more severe functional impairment (GMFCS III-V), including atypical arching and persistent cramped-synchronized movements. Asymmetrical segmental movements were strongly associated with unilateral CP. Circular arm movements were associated with dyskinetic CP. This study demonstrated that use of the MOS contributes to understanding later CP prognosis, including early markers for type and severity.
2019
- Clinical characterization of neonatal and pediatric enteroviral infections: an Italian single center study
[Articolo su rivista]
Berardi, Alberto; Sandoni, Marcello; Toffoli, Carlotta; Boncompagni, Alessandra; Gennari, William; Bergamini, Maria Barbara; Lucaccioni, Laura; Iughetti, Lorenzo
abstract
Enteroviruses (EVs) are an important cause of illness, especially in neonates and young infants. Clinical and laboratory findings at different ages, brain imaging, and outcomes have been inadequately investigated.
2019
- Endocrine and metabolic complications in children and adolescents with Sickle Cell Disease: An Italian cohort study
[Articolo su rivista]
Mandese, V.; Bigi, E.; Bruzzi, P.; Palazzi, Giovanni; Predieri, B.; Lucaccioni, L.; Cellini, M.; Iughetti, L.
abstract
Background: Children with Sickle Cell Disease (SCD) show endocrine complications and metabolic alterations. The physiopathology of these conditions is not completely understood: iron overload due to chronic transfusions, ischemic damage, and inflammatory state related to vaso-occlusive crises may be involved. Aims of this study were to evaluate the growth pattern, endocrine complications, and metabolic alterations and to detect the relationship between these conditions and the SCD severity in affected children and adolescents. Methods: Fifty-two children and adolescents with SCD [38 homozygous sickle hemoglobin (HbSS) and 14 heterozygous sickle hemoglobin (HbSC); age range 3-18 years] were recruited. Anthropometric [height, body mass index (BMI), arm span, sitting height, target height (TH), and pubertal status] and laboratory [blood cell counts, hemolysis indices, metabolic and nutritional status indices and hormonal blood levels] data were evaluated. The SCD severity was defined according to hematological and clinical parameters. Results: Height-SDS adjusted for TH and BMI-SDS were significantly higher in HbSC children than in HbSS ones. Forty-eight out of 52 patients (92%) had at least one metabolic and/or endocrine alteration: insufficiency/deficiency of vitamin D (84.7%), insulin resistance (11.5%), growth hormone deficiency (3.8%), subclinical hypothyroidism (3.8%), and hypogonadism (1.9%). Levels of vitamin D were significantly and negatively correlated with clinical indicators of the SCD severity. Subjects with HbSS genotype show significant lower levels of both insulin-like growth factor-1 (IGF-1) and insulin-like growth factor binding protein 3 than children with HbSC. In the study population IGF-1 values were significantly and positively correlated with Hb and negatively with lactate dehydrogenase. Conclusions: Metabolic alterations and endocrine complications are very common in children and adolescents with SCD. A regular follow-up is necessary to identify subjects at risk for complications to precociously start an appropriate treatment and to improve the quality of life of SCD patients.
2019
- Epidemiology and complications of late-onset sepsis: An Italian area-based study
[Articolo su rivista]
Berardi, A.; Sforza, F.; Baroni, L.; Spada, C.; Ambretti, S.; Biasucci, G.; Bolognesi, S.; Capretti, M.; Carretto, E.; Ciccia, M.; Lanari, M.; Pedna, M. F.; Rizzo, V.; Venturelli, C.; Tzialla, C.; Lucaccioni, L.; Reggiani, M. L. B.
abstract
Background Most studies regarding late-onset sepsis (LOS) address selected populations (i.e., neonates with low birth weight or extremely preterm neonates). Studying all age groups is more suitable to assess the burden of single pathogens and their clinical relevance. Methods This is a retrospective regional study involving paediatric departments and NICUs in Emilia-Romagna (Italy). Regional laboratory databases were searched from 2009 to 2012. Records of infants (aged 4 to 90 days) with a positive blood or cerebrospinal fluid (CSF) culture were retrospectively reviewed and analysed according to acquisition mode (whether hospital- or community-acquired). Results During the study period, there were 146,682 live births (LBs), with 296 patients experiencing 331 episodes of LOS (incidence rate: 2.3/1000 LBs). Brain lesions upon discharge from the hospital were found in 12.3% (40/296) of cases, with death occurring in 7.1% (23/296; 0.14/ 1000 LBs). With respect to full-term neonates, extremely preterm or extremely low birth weight neonates had very high risk of LOS and related mortality (> 100- and > 800-fold higher respectively). Hospital-acquired LOS (n = 209) was significantly associated with very low birth weight, extremely preterm birth, pneumonia, mechanical ventilation, and death (p< 0.01). At multivariate logistic regression analysis, catecholamine support (OR = 3.2), central venous line before LOS (OR = 14.9), and meningitis (OR = 44.7) were associated with brain lesions or death in hospital-acquired LOS (area under the ROC curve 0.81, H-L p = 0.41). Commonly identified pathogens included coagulase-negative staphylococci (CoNS n = 71, 21.4%), Escherichia coli (n = 50, 15.1%), Staphylococcus aureus (n = 41, 12.4%) and Enterobacteriaceae (n = 41, 12.4%). Group B streptococcus was the predominant cause of meningitis (16 of 38 cases, 42%). Most pathogens were sensitive to first line antibiotics. Conclusions This study provides the first Italian data regarding late-onset sepsis (LOS) in all gestational age groups. Compared to full-term neonates, very high rates of LOS and mortality occurred in neonates with a lower birth weight and gestational age. Group B streptococcus was the leading cause of meningitis. Excluding CoNS, the predominant pathogens were Escherichia coli and Staphylococcus aureus. Neonates with hospital-acquired LOS had a worse outcome. Antibiotic associations, recommended for empirical treatment of hospital- or community-acquired LOS, were adequate.
2019
- Esposizione prenatale e postnatale a ftalati ed effetti sullo sviluppo infantile: presentazione dei primi dati raccolti
[Abstract in Rivista]
Maione, Domenico; Lucaccioni, Laura; Facchinetti, Fabio; Plessi, Carlotta; Poluzzi, Francesca; Ferrari, Angela; Fantuzzi, Guglielmina; Righi, Elena
abstract
Gli ftalati, potenziali interferenti endocrini comunemente addizionati alle materie plastiche, si ritrovano in numerosi prodotti di largo consumo quali involucri alimentari, cosmetici, prodotti per l’igiene personale, giocattoli e articoli per l’infanzia. A causa dei processi di migrazione ed evaporazione essi sono in grado di contaminare diverse matrici ambientali, determinando una esposizione umana continua e diffusa che può avvenire attraverso diverse vie e modalità. In più tali sostanze sono capaci di attraversare la barriera placentare, interferendo così anche con lo
sviluppo fetale e neonatale. Le conoscenze sui livelli di esposizione prenatale e, soprattutto, postnatale a ftalati dei neonati sono tuttavia ancora molto limitate. Questo studio ha quindi l’obiettivo di valutare, attraverso il biomonitoraggio
urinario, l’esposizione prenatale e postnatale a questi composti in neonati della provincia di Modena e, di indagare
il potenziale effetto di questa esposizione sull’accrescimento corporeo, sui livelli ormonali e sullo sviluppo neuro-cognitivo nei primi due anni di vita
2019
- Esposizione prenatale e postnatale a ftalati ed effetti sullo sviluppo infantile: presentazione del protocollo di ricerca.
[Abstract in Rivista]
Maione, D; Lucaccioni, L; Facchinetti, F; Pignatti, L; Ferrari, A; Fantuzzi, G; Righi, E
abstract
Introduzione: Gli ftalati, potenziali endocrine disruptors comunemente addizionati alle materie plastiche, si ritrovano in numerosi prodotti di largo consumo quali involucri alimentari, giochi, cosmetici e prodotti per l’igiene personale. Le conoscenze sui livelli di esposizione prenatale e, soprattutto, postnatale a ftalati dei neonati sono tuttavia molto limitate.
Questo studio ha l’obiettivo di valutare, attraverso il biomonitoraggio urinario, l’esposizione prenatale e postnatale a ftalati in neonati della provincia di Modena e di indagare il ruolo/effetto di questa esposizione sull’accrescimento corporeo, sui livelli ormonali e sullo sviluppo neuro-cognitivo nei primi due anni di vita.
Materiali e metodi: Si tratta di uno studio di coorte che prevede l’arruolamento, subito dopo il parto, di donne e dei loro bambini, nati a termine e normopeso, presso l’AOU di Modena. L’esposizione prenatale verrà valutata tramite il dosaggio di ftalati nelle urine (materne e neonatali) raccolte all’arruolamento e la somministrazione di un questionario che indaga le fonti espositive durante la gravidanza. L’esposizione postnatale verrà valutata raccogliendo le urine
dei bambini a 6 mesi e la somministrazione di un secondo questionario espositivo. Alla nascita e durante i primi due anni di vita, mediante visite periodiche, verranno misurati accrescimento corporeo, livelli ormonali urinari (LH, FSH, testosterone/estradiolo), sviluppo neuro-motorio (metodo di Prechtl ed esame obiettivo neurologico) e sviluppo neuro-cognitivo (Scala di Griffiths). La determinazione analitica dei 6 diesteri più diffusi e dei relativi metaboliti
verrà effettuata tramite cromatografia liquida e spettrometria di massa.
Risultati: Le analisi dei campioni di urine raccolti dai neonati in diversi momenti permetteranno di quantificare sia l’esposizione prenatale che quella postnatale agli specifici ftalati e ai loro principali metaboliti, valutandone anche i trend temporali, di individuare le principali fonti espositive, sia durante la gravidanza che durante i primi 6 mesi di vita, e di indagare le correlazioni tra tali esposizioni e le caratteristiche antropometriche, i livelli ormonali del sistema riproduttivo e lo sviluppo neuro-motorio e neuro-cognitivo nei primi due anni di vita dei bambini.
Conclusioni: Grazie al coinvolgimento dei neonati nel monitoraggio biologico, questa indagine migliorerà le conoscenze dirette sui livelli di esposizione prenatale e, soprattutto, postnatale a ftalati dei neonati, e apporterà contributi su possibili effetti sul loro accrescimento corporeo e sviluppo neurocognitivo. Inoltre, le informazioni ottenute potranno essere utilizzate per la pianificazione di strategie di prevenzione e promozione della salute della popolazione femminile in età fertile al fine di ridurre l’esposizione a queste sostanze in gravidanza e nei primi mesi di vita neonatale.
2019
- Extra Uterine Growth Restriction (EUGR) in very low birth weight infants: Growth recovery and neurodevelopment by the corrected age of 2 years old
[Abstract in Rivista]
Lucaccioni, Laura; Arrigoni, Marta; Elisa Della Casa, ; Natascia, Bertoncelli; Predieri, Barbara; Berardi, Alberto; Pugliese, Marisa; Ferrari, Fabrizio; Iughetti, Lorenzo
abstract
Background: Extra Uterine Growth Restriction (EUGR) represents a serious comorbidity in infants born very low birth weight (VLBW). In fact, failure in postnatal growth and malnutrition at vulnerable ages can interfere with growth recovery and neurodevelopment at older ages. Hypothesis: Aim of the study was to assess whether and how the postnatal early growth patterns of VLBW may affect later growth, spontaneous motility at three months of corrected age (CA) and neurodevelopment at 2 years CA. Study Design: Retrospective single-centre study of 547 infants (255M) born VLBW between 2005 and 2015. Each participant underwent: a) anthropometric assessments of weight (W), length (L) and head circumference (HC) at birth, at discharge from the NICU and at 2 years CA; b) Evaluation of Fidgety movements (F) at three months CA; c) Neurodevelopmental assessment at 2 years CA through the Griffith Mental Development Scales. Results: From the overall population, growth percentiles at discharge were significantly lower than at birth (L p<0.01; W p<0.01; HC p< 0.01). Longitudinal data showed a significant growth restriction between birth (AGA for W:73%; AGA for L:73.2%) and discharge (AGA for W:36%; AGA for L:31.2%). Gestational age, duration of hospitalisation, bronchopulmonary dysplasia and intra ventricular haemorrhage were found to be predictive factors for EUGR at discharge. At 2 years CA, SGA at discharge but not at birth, showed significantly lower stature compared to the AGA ones (p:0.04). Significant correlation was found between F and L (p:0.04; r:0.12) and HC (p<0.02; r:0.2) at discharge, but not at birth. Moreover, a significant difference was found between F and locomotor outcome at two years CA (p<0.01). W and L at discharge, but not at birth, were significantly related to worse locomotor outcome at two years of CA (respectively, p:0.03, r:0.14; p:0.01, r:0.18). In particular, who was found SGA at discharge, both for W and/or L, had the worse motor outcome compared to the AGA ones (respectively, p:0.04 and p:0.01). Conclusions: VLBW growth measurements at discharge, but not at birth, are related to poorer growth and neurodevelopment at later ages, especially in children who become SGA. Lower scores in locomotor assessment at two years CA have been observed in infants with anomalies of F, suggesting how spontaneous motility could predict later neurodevelopmental outcomes. Our findings highlight the necessity of a close clinical follow-up of growth patterns during preterm hospitalization aiming to decrease the incidence of EUGR.
2019
- Further Delineation of Pyridoxine-Responsive Pyridoxine Phosphate Oxidase Deficiency Epilepsy: Report of a New Case and Review of the Literature With Genotype-Phenotype Correlation
[Articolo su rivista]
Lugli, L.; Bariola, M. C.; Ori, L.; Lucaccioni, L.; Berardi, A.; Ferrari, F.
abstract
In recent years, the clinical spectrum of pyridoxine phosphate oxidase (PNPO) deficiency has broadened. There are a growing number of patients with a transient or lasting response to pyridoxine in addition to cases that respond more traditionally to pyridoxal-phosphate. However, among pyridoxine-responsive patients with PNPO gene mutation, there are only a few reports on electroencephalogram (EEG) ictal/interictal patterns, and data regarding the outcomes are inconsistent. We describe a case of neonatal onset epilepsy with missense mutation c(674G>A) p(R225 H) in PNPO gene and pyridoxine responsiveness. Comparing this patient with 24 cases of previously described pyridoxine-responsive pyridoxine phosphate oxidase deficiency epilepsy, we found that patients carrying the missense mutation c(674G>A) p(R225 H) of the PNPO gene might have a more severe epileptic phenotype, possibly because of their lower residual PNPO activity. Indeed, pyridoxine-responsive pyridoxine phosphate oxidase deficiency epilepsy remains a challenge, with neurodevelopmental disabilities occurring in about half of the cases.
2019
- Group B Streptococcus early-onset disease and observation of well-appearing newborns
[Articolo su rivista]
Berardi, A.; Spada, Concetta; Reggiani, M. L. B.; Creti, R.; Baroni, L.; Capretti, M. G.; Ciccia, M.; Fiorini, V.; Gambini, L.; Gargano, G.; Papa, I.; Piccinini, G.; Rizzo, V.; Sandri, F.; Lucaccioni, L.
abstract
Background International guidelines lack a substantial consensus regarding management of asymptomatic full-term and late preterm neonates at risk for early-onset disease (EOS). Large cohorts of newborns are suitable to increase the understanding of the safety and efficacy of a given strategy. Methods This is a prospective, area-based, cohort study involving regional birth facilities of Emilia-Romagna (Italy). We compared cases of EOS (at or above 35 weeks’ gestation) registered in 2003–2009 (baseline period: 266,646 LBs) and in 2010–2016, after introduction of a new strategy (serial physical examinations, SPEs) for managing asymptomatic neonates at risk for EOS (intervention period: 265,508 LBs). Results There were 108 cases of EOS (baseline period, n = 60; intervention period, n = 48). Twenty-two (20.4%) remained asymptomatic through the first 72 hours of life, whereas 86 (79.6%) developed symptoms, in most cases (52/86, 60.5%) at birth or within 6 hours. The median age at presentation was significantly earlier in the intrapartum antibiotic prophylaxis (IAP)exposed than in the IAP-unexposed neonates (0 hours, IQR 0.0000–0.0000 vs 6 hours, IQR 0.0000–15.0000, p<0.001). High number of neonates (n = 531) asymptomatic at birth, exposed to intrapartum fever, should be treated empirically for each newborn who subsequently develops sepsis. IAP exposed neonates increased (12% vs 33%, p = 0.01), age at presentation decreased (median 6 vs 1 hours, p = 0.01), whereas meningitis, mechanical ventilation and mortality did not change in baseline vs intervention period. After implementing the SPEs, no cases had adverse outcomes due to the strategy, and no cases developed severe disease after 6 hours of life. Conclusions Infants with EOS exposed to IAP developed symptoms at birth in almost all cases, and those who appeared well at birth had a very low chance of having EOS. The risk of EOS in neonates (asymptomatic at birth) exposed to intrapartum fever was low. Although definite conclusions on causation are lacking, our data support SPEs of asymptomatic newborns at risk for EOS. SPEs seems a safe and effective alternative to laboratory screening and empirical antibiotic therapy.
2019
- Hearing loss in children with congenital cytomegalovirus infection: An 11-year retrospective study based on laboratory database of a tertiary paediatric hospital
[Articolo su rivista]
Palma, S.; Roversi, M. F.; Bettini, M.; Mazzoni, S.; Pietrosemoli, P.; Lucaccioni, L.; Berardi, A.; Genovese, E.
abstract
Congenital cytomegalovirus infection is considered the main cause of infantile non-genetic neurosensory hearing loss. Although this correlation was described more than 50 years ago, the natural history of internal ear involvement has not yet been fully defined. Hearing loss is the most frequent sequela and is seen in a variable percentage up to 30%; the hearing threshold is characterised by fluctuations or progressive deterioration. The purpose of this study was to evaluate the prevalence of hearing loss in cases of congenital CMV infection from Modena county, starting from the database of the microbiology and virology reference laboratory. All children undergoing urine testing for suspected CMV infection or viral DNA testing on Guthrie Card in the period between January 2004 and December 2014 were enrolled in the study. Family paediatricians were contacted and asked about clinical information on the possible presence at birth or subsequent occurrence of hearing loss, excluding cases where this was not possible. The results showed an annual prevalence of congenital cytomegalovirus infection among suspected cases that was stable over time despite the progressive increase in subjects tested. The prevalence of hearing loss was in line with the literature, whereas in long-term follow-up cases of moderate, medium-to-severe hearing loss with late onset were not detected. The introduction of newborn hearing screening in the county has allowed early diagnosis of hearing loss at birth as non-TEOAE-born births underwent a urine virus test. Moreover, despite all the limitations of the study, we can conclude that European epidemiological studies are needed to better define the relationship between congenital CMV infection and internal ear disease as the impact of environmental and genetic factors is still not entirely clarified.
2019
- Hypospadias: clinical approach, surgical technique and outcome. Twenty years’ experience of a single centre
[Abstract in Rivista]
Lucaccioni, Laura; Francesca, Poluzzi; Viviana, Durante; Predieri, Barbara; Iughetti, Lorenzo; Ceccarelli, PIER LUCA
abstract
Background: Hypospadias is one of the most common congenital abnormalities in male. Nowadays, hypospadias surgical repair has become highly demanding and deeply investigated with more than 300 corrective procedures. Its success is assessed by the “reoperation rate” that occurs short after the surgery within a brief follow-up (6-12 months). However, short-term outcomes may not reflect the long-term ones, as hypospadias repair may influence adolescence and adult life. This study aims to identify the cosmetic, functional and psychosexual outcomes on a long-term follow-up and to suggest an innovative approach to the hypospadiac patient’s care, as well as providing a review of a singol center experience. Methods: Medical records of 398 patients treated by the same surgeon for hypospadias between August 2001 and December 2017 were reviewed. Families were reached by phone and invited to attend a free-charge follow-up examination. A life-related interview and 3 validated questionnaires (the Penile Perception Score-PPS, the Hypospadias Objective Score Evaluation-HOSE, the International Index of Erectile Function-5-IIEF5) were used, according to the age, to compare the parents’, patients’ and surgeon’s opinion on long-term outcomes. Results: 187 patients were included in the study (response rate 47%). 46 patients (24.6%) presented at least one complication after the repair with a mean elapsed time of 17.6 months (SD 18,96). Longitudinal differences in surgical corrective procedures (p<0.01), clinical approach (p<0.01) and hospitalisation after surgery (p<0.01) were found. Cosmetic data from the PPS were similar among patients and parents, with no significant differences according to patients’ age nor to the type of hypospadias: 83% of the patients and 87% of the parents were satisfied with the cosmetic result. A significant difference in functional outcome relating to the type of hypospadias was reflected by the HOSE among patients (p<0.001), parents (p:0.02) and surgeon (p<0.01). Patients’ HOSE total score was consistently lower compared to the surgeon one (p<0.01). The HOSE satisfaction rate on functional outcome was 89% for patients and 92% for parents. No data were available from the IIEF5 questionnaire. Conclusion: Long-term hypospadias outcomes still represent a debated issue for scientific community and a standardized approach to evaluate the consequences of surgery through time is needed. We propose an innovative algorithm in attempt to fill the gap of the present literature.
2019
- Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report
[Articolo su rivista]
Iughetti, Lorenzo; Lucaccioni, Laura; Bruzzi, Patrizia; Ciancia, Silvia; Bigi, Elena; Madeo, Simona Filomena; Predieri, Barbara; Roucher-Boulez, Florence
abstract
X-linked Adrenal Hypoplasia Congenita (AHC) is a rare cause of primary adrenal insufficiency due to mutations in the NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1. Adrenal insufficiency usually appears in the first 2 months of life, but can sometimes emerge during childhood. Hypogonadotropic Hypogonadism is often associated later in life and patients may develop azoospermia. We describe an unusual onset of AHC started with isolated hypoaldosteronism as first and only sign of the disease.
2019
- Motor and Postural Patterns Concomitant with General Movements Are Associated with Cerebral Palsy at Term and Fidgety Age in Preterm Infants
[Articolo su rivista]
Ferrari, Fabrizio; Plessi, Carlotta; Lucaccioni, Laura; Bertoncelli, Natascia; Bedetti, Luca; Ori, Luca; Berardi, Alberto; Della Casa, Elisa; Iughetti, Lorenzo; D'Amico, Roberto
abstract
General movements (GMs) in combination with neurological examination and magnetic resonance imaging at term age can accurately determine the risk of cerebral palsy. The present study aimed to assess whether 11 motor and postural patterns concomitant with GMs were associated with cerebral palsy. Video recordings performed after birth in 79 preterm infants were reviewed retrospectively. Thirty-seven infants developed cerebral palsy at 2 years corrected age and the remaining 42 showed typical development. GMs were assessed from preterm to fidgety age and GM trajectories were defined. The 11 motor and postural patterns were evaluated at each age and longitudinally, alone and in combination with GM trajectories. A logistic regression model was used to assess the association between GMs, concomitant motor and postural patterns, and cerebral palsy. We confirmed that high-risk GM trajectories were associated with cerebral palsy (odds ratio = 44.40, 95% confidence interval = 11.74-167.85). An association between concomitant motor and postural patterns and cerebral palsy was found for some of the patterns at term age and for all of them at fidgety age. Therefore, at term age, concomitant motor and postural patterns can support GMs for the early diagnosis of cerebral palsy.
2019
- Observation on the newborn at risk of early-onset sepsis: The approach of the Emilia-Romagna Region (Italy) [Osservazione nel neonato a rischio di sepsi precoce: L'Approccio della Regione Emilia-Romagna]
[Articolo su rivista]
Berardi, A.; Spada, C.; Ciccia, M.; Capretti, M.; Brusa, G.; Sandri, F.; Balestri, E.; Rocca, L.; Gambini, L.; Azzalli, M.; Rizzo, V.; Piccinini, G.; Vaccina, E.; Lucaccioni, L.
abstract
L’approccio al neonato a rischio di infezione batterica precoce è un problema emergente e in continua evoluzione. In passato l’approccio era basato principalmente sull’esecuzione di test di laboratorio, che sono risultati però scarsamente predittivi e causa di ripetuti prelievi di sangue e antibiotico-terapie ingiustificate, con alterazioni del nascente microbiota intestinale e possibili effetti a lungo termine. La medicalizzazione di neonati asintomatici interferisce inoltre con l’allattamento al seno. Recenti esperienze in Friuli Venezia Giulia ed Emilia-Romagna suggeriscono come sia utile un approccio meno invasivo, basato essenzialmente sull’osservazione clinica attenta e ripetuta a orari standard di neonati asintomatici a termine o lievemente pretermine, indipendentemente dal loro grado di rischio. Tale approccio è utile a una diagnosi tempestiva, non separa le madri dai loro piccoli e conseguentemente non interferisce con lo sviluppo del nascente microbiota intestinale né con l’allattamento al seno.
2019
- Pitfalls in the diagnosis of meningitis in neonates and young infants: the role of lumbar puncture
[Articolo su rivista]
Bedetti, Luca; Marrozzini, Lucia; Baraldi, Alessandro; Spezia, Elisabetta; Iughetti, Lorenzo; Lucaccioni, Laura; Berardi, Alberto
abstract
Meningitis occurs frequently in neonates and can lead to a number of acute, severe complications and long-term disabilities. An early diagnosis of neonatal meningitis is essential to reduce mortality and to improve outcomes. Initial clinical signs of meningitis are often subtle and frequently overlap with those of sepsis, and current haematologic tests do not distinguish sepsis from meningitis. Thus, lumbar puncture remains the gold standard for the diagnosis of meningitis in infants, and this procedure is recommended in clinical guidelines. Nevertheless, in clinical practice, lumbar puncture is frequently deferred or omitted due to concerns regarding hypothetical adverse events or limited experience of the performer. Future studies should assess whether a combination of clinical findings and select haematological tests at disease onset can identify those neonates with the highest risk of meningitis who should undergo lumbar puncture. Furthermore, clinicians should be convinced that the actual benefits of an early diagnosis of meningitis far outweigh the hypothetical risks associated with lumbar puncture.
2019
- Severe metabolic alkalosis due to diuretic treatment in a patient with distal renal tubular acidosis: a rare association.
[Articolo su rivista]
Lucaccioni, Laura; Coccolini, Elena; Dozza, Alessandra; Cantatore, Sante Lucio; Berardi, Alberto; Predieri, Barbara; Iughetti, Lorenzo
abstract
Introduction: Distal renal tubular acidosis is a rare genetic disease, characterised by deficit in renal tubular transport. Clinical features are metabolic acidosis with hypercloraemia and hypokalemia, and inability in urine acidification. Hypercalciuria may also be present, often treated with the use of a diuretic therapy with thiazides. Case Presentation: We present a severe disease onset in a neonate with consanguineous parents, both autosomal-recessive for an ATP6VOA4 gene mutation, and a nevertheless severe episode of metabolic alkalosis, occurred in the same patient after few months, during the diuretic therapy. Conclusion: Biochemical results lead us to hypothesize a susceptibility to the treatment that need further investigations.
2019
- Strategies for preventing early-onset sepsis and for managing neonates at-risk: wide variability across six Western countries
[Articolo su rivista]
Berardi, Alberto; Rossi, Cecilia; Spada, Caterina; Vellani, Giulia; Guidotti, Isotta; Lanzoni, Angela; Azzalli, Milena; Papa, Irene; Giugno, Chiara; Lucaccioni, Laura
abstract
Group B streptococcus (GBS) early-onset sepsis (EOS) has declined after widespread intrapartum antibiotic prophylaxis. However, strategies for preventing EOS may differ across countries. The analysis of their strategies allows to compare the effectiveness of prevention in different countries and suggests opportunities for improvement.
2019
- Un neonato a termine ipotonico: pensa anche alla sindrome di Prader-Willi
[Articolo su rivista]
Bariola, Maria Carolina; Vaccina, E.; Lugli, L.; Berardi, A.; Lucaccioni, L.; Iughetti, L.; F. Ferrari.,
abstract
The paper describes the case of a term newborn infant, born by elective caesarean section with no prenatal and perinatal risk factors. He presented with an unexpected cardiorespiratory depression at birth, severe hypotonia, feeding problems and peculiar dysmorphism: micrognathia with chubby cheeks, small hands and right cryptorchidism. In the suspect of Prader-Willi syndrome, DNA methylation test confirmed the diagnostic hypothesis. The simultaneous presence of neonatal hypotonia, poor suck and peculiar dysmorphism should suggest Prader-Willi syndrome and thus the performance of the DNA methylation test to confirm the diagnosis for a timely and adequate therapeutic work-up.
2019
- Unusual meningitis caused by non-typhoid Salmonella in an italian infant: a case report.
[Articolo su rivista]
Ficara, Monica; Cenciarelli, Valentina; Montanari, Lisa; Righi, Beatrice; Fontjin, Simone; Cingolani, Greta Miriam; Predieri, Barbara; Berardi, Alberto; Lucaccioni, Laura; Iughetti, Lorenzo
abstract
Background: Non-typhoid Salmonella (NTS) is an important cause of bacterial meningitis in newborn and infants in developing countries, but rarely in industrialized ones. We describe an unusual presentation of bacterial meningitis in an infant, focusing on his diagnostic and therapeutic management.
Case report: An Italian two-month old male presented high fever and diarrhea with blood, associated with irritability. Inflammatory markers were high, cerebrospinal fluid analysis was compatible with bacterial meningitides but microbiological investigations were negative. Salmonella enteritidis was isolated from blood. Cerebral ultrasound and MRI showed periencephalic collection of purulent material. Specific antibiotic therapy with cefotaxime was initiated with improvement of clinical conditions and blood tests. Brain MRI follow up improved progressively.
Conclusions: Most of pediatric patients with NTS infection develop self-limited gastroenteritis, but in 3-8% of the cases complications such as bacteremia and meningitis may occur, especially in weak patients. Cerebral imaging can be useful to identify neurological findings. Although there is no standardized treatment for this condition, specific antibiotic therapy for at least four weeks is recommended. Neuroimaging follow up is required due to high risk of relapse.
2019
- Worse global intellectual and worse neuropsychological functioning in preterm-born children at preschool age: a meta-analysis
[Articolo su rivista]
Arpi, Elena; D'Amico, Roberto; Lucaccioni, Laura; Bedetti, Luca; Berardi, Alberto; Ferrari, Fabrizio
abstract
Preterm births (<32 weeks of gestational age) are associated with cognitive problems that are difficult to diagnose in infancy but potentially detectable at preschool age. This review aimed to evaluate the extent to which total intelligence quotient (IQ) and neuropsychological functions at ages three to five years differ between children born at <32 weeks gestational age or <1,500 g birth weight and children born at term. The secondary aim was to determine if cognitive performance differs between extremely preterm (EPT)/extremely low birth weight (ELBW) children and very preterm (VPT) or very low birth weight (VLBW) children.
2018
- Adrenal Hypoplasia Seemingly First as a Primary Hypoaldosteronism
[Abstract in Rivista]
Iughetti, Lorenzo; Lucaccioni, Laura; Bruzzi, Patrizia; Ciancia, Silvia; Predieri, Barbara; Roucher-Boulez, Florence
abstract
Background: X-linked Congenital Adrenal Hypoplasia (AHC) is a rare cause of primary adrenal insufficiency due to mutations in NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1. Adrenal insufficiency usually presents in the first two months of life, but sometimes can appear later in childhood. Hypogonadotropic Hypogonadism is often associated later in life and all patients develop azoospermia. We describe an unusual onset of AHC started with isolated hypoaldosteronism as first and only sign of disease.
Case presentation: A 18-days-old newborn presented with failure to thrive and feeding difficulties. Blood tests showed severe hyponatremia, hyperkalemia and hypochloremia. Renin was found over the measurable range and aldosterone was low whereas cortisol level was normal with a slightly increased ACTH. In the
suspicion of Primary Hypoaldosteronism, correction of plasmatic electrolytes and replacement therapy with Fludrocortisone were promptly started. The subsequent evidence of low plasmatic and urinary cortisol and increased ACTH required the start of Hydrocortisone replacement therapy and it defined a clinical picture of adrenal insufficiency. Genetic analysis demonstrated a novel mutation in DAX-1 gene leading to the diagnosis of AHC.
Conclusions: NR0B1/DAX-1 mutations should be considered in male infants presenting with isolated hypoaldosteronism as first sign of adrenal insufficiency.
2018
- Brain-derived neurotrophic factor and epilepsy: a systematic review
[Articolo su rivista]
Iughetti, L; Lucaccioni, L; Fugetto, F; Predieri, B; Berardi, A; Ferrari, F.
abstract
Several in vitro, ex vivo and in vivo studies imply brain-derived neurotrophic factor (BDNF) in the pathophysiology of epilepsy. Aim of our work is to report the most important findings regarding BDNF and its potential role in epilepsy. We targeted those publications addressing both in vitro and in vivo evidences of relationship between BDNF and epilepsy. Basic researches, randomized trials, cohort studies, and reviews were contemplated to give a breadth of clinical data. Medline, CENTRAL, and Science Direct were searched till August 2017 using keywords agreed by the authors. Together with a defined role in developmental and mature brain, BDNF has excitatory effects in neuronal cultures and animal brain slices. Furthermore, both BDNF and its conjugated receptor (i.e. Tropomyosin receptor kinase B or TrkB) are increased in animal models and humans with epilepsy, particularly in the temporal and hippocampal areas. Acute injection of BDNF in brain of mice induces seizures, which are almost or totally abolished blocking its transcription and pathway. Chronic infusion of BDNF is conversely associated with a decreased neuronal excitability, probably via several mechanism including an increase in central levels of neuropeptide Y (NPY), altered conductance of chloride, and downregulation of TrkB. While genetic studies are inconclusive, serum BDNF is more frequently higher in patients with epilepsy and appears to be correlated to severity of disease. Current evidences suggest that inhibiting BDNF-TrkB signaling and reinforcing the NPY system could represent a potential therapeutic strategy for epilepsy, especially for temporal lobe epilepsy.
2018
- Endocrine and Metabolic Complications in Children and Adolescents with Sickle Cell Disease: An Italian Cohort Study
[Abstract in Rivista]
Elena, Bigi; Bruzzi, Patrizia; Giovanni, Palazzi; Predieri, Barbara; Lucaccioni, Laura; Pancaldi, Alessia; Lodi, Mariachiara; Monica, Cellini; Iughetti, Lorenzo
abstract
Background: Children with Sickle Cell Disease (SCD) show endocrine complications and metabolic alterations. The physiopathology of these conditions is not completely understood: iron overload due to chronic transfusions, ischemic damage, and inflammatory state related to vaso-occlusive crises may be involved.
Aims of this study were to evaluate the growth pattern and the endocrine and metabolic alterations in a cohort of children with SCD and to detect the relationship between these conditions and the SCD severity.
Methods: Fifty-two children and adolescents with SCD [38 homozygous sickle hemoglobin (HbSS) and 14 heterozygous sickle hemoglobin (HbSC); age range 3-18 years] were recruited. Anthropometric [height, body mass index (BMI), arm span, sitting height, target height (TH), and pubertal status] and laboratory
[blood cell counts, hemolysis indices, metabolic and nutritional status indices and hormonal blood levels] data were evaluated. The SCD severity was defined according to hematological and clinical parameters.
Results: Height-SDS adjusted for TH and z-score-BMI were significantly higher in HbSC children than in HbSS ones. The 92% (48/52) of the population show at least one metabolic and/or endocrine alteration: insufficiency/deficiency of vitamin D (84.7%), insulin resistance (11.5%), growth hormone deficiency (3.8%), subclinical hypothyroidism (3.8%), and hypogonadism (1.9%). Levels of 25-hydroxy-vitamin D were negatively correlated with clinical indicators of the SCD severity. Subjects with HbSS genotype show significant lower levels of both insulin-like growth factor-I (IGF-1) and insulin-like growth factor binding protein 3 than children with HbSC. In the study group IGF-1 values were positively related with Hb and negatively related with lactate dehydrogenase.
Conclusions: Metabolic and endocrine alterations are very common in children and adolescents with SCD. A regular follow-up is necessary to identify subjects at risk for complications, to precociously initiate an appropriate treatment, and to improve the quality of life of SCD patients.
2018
- I DISORDINI DELLO SVILUPPO SESSUALE E LE MALFORMAZIONI DELL’APPARATO GENITALE
[Capitolo/Saggio]
Lucaccioni, Laura; Predieri, Barbara; Tridenti, Gabriele; Vezzani, Cristina
abstract
La differenziazione sessuale è un processo complesso, che si articola durante tutta l’embriogenesi portando allo sviluppo di differenti tipologie di “sesso”. L’evoluzione naturale del sistema riproduttivo porta di default alla formazione di gonadi e genitali esterni femminili. Perché si compia la differenziazione in senso “maschile” sono necessari vari cofattori quali un gene SRY correttamente funzionante, tessuto gonadico che produca AMH e testosterone, recettori ormonali funzionanti nei tessuti bersaglio. Eventuali alterazioni di questo delicato processo possono portare alla presenza di Disordini dello Sviluppo Sessuale (DSD). Le malformazioni dell’apparato genitale (MAG) sono deviazioni dalla normale anatomia che possono ridurre la capacità riproduttiva di una donna o, in casi complessi (anomalie ostruttive) possono mettere a rischio la sua stessa salute. Embriologicamente derivano da difetti di formazione, canalizzazione, fusione o riassorbimento dei dotti di Muller.
2018
- IPERTENSIONE POLMONARE IN INCONTINENTIA PIGMENTII
[Articolo su rivista]
Malmusi, G.; Lucaccioni, L.; Rossi, K.; Iughetti, L.; Ferrari, F.
abstract
La vasculopatia polmonare alla base della ITPS nel neonato sia stata efficacemente contrastata dalla terapia combinata con bosentan e sildenafil, suggerendo che l’inibizione dell’endotelina 1 (ET-1), possa controvertire la patogenesi della ITPS.
2018
- LA MENINGITE NEL NEONATO E NEL PICCOLO LATTANTE
[Articolo su rivista]
Bedetti, L.; Baraldi, A.; Leone, Federica; Marrozzini, L.; Iughetti, L.; Lucaccioni, L.; Berardi, A.
abstract
Bacterial meningitis may cause long term disabilities or death, particularly at younger ages. Early diagnosis and prompt antibiotic therapy are essential for improving outcome. The diagnosis of meningitis in newborns and young infants is a challenge because symptoms and signs are frequently vague and non-specific, in particular at the onset of the disease. Cerebrospinal fluid culture and analysis remain nowadays the gold standard for diagnosis. Clinicians often defer lumbar puncture because of concerns of complications, although data concerning the risks of lumbar puncture at younger ages are poorly defined. Perhaps a combination of laboratory markers and selected clinical symptoms at the onset of meningitis would identify neonates with higher risk of meningitis who should necessarily undergo lumbar puncture. Currently, clinicians should be aware that the advantage of an early diagnosis of meningitis through lumbar puncture overcomes the risks related to the procedure.
2018
- Male or Female? What about disorders of sex development
[Articolo su rivista]
Lucaccioni, L; Boncompagni, A; Pietrella, E; Ceccarelli, Pl; Ferrari, F; Berardi, A; Iughetti, L.
abstract
After the first trimester of pregnancy future parents are commonly asked if their child will be male or female. Such a question creates many expectations and implies the true determination of the baby's identity. Indeed, since the earliest stages of pregnancy knowing the gender of unborn babies creates expectations in their families, which grow with the approach of childbirth. Babies born with atypical genitalia, which consequently makes impossible to address whether they are really the same as they had been imagined, create considerable difficulties in their parents, who see their believes undermined. The evaluation of infants' genitalia, taken for granted when referring to genitalia phenotypically in the standard and often not reported for brevity in the first clinical examination after birth, becomes fundamental in case of atypia. In order to be able to take best care of such children, it is necessary to know how the hypothalamus-pituitary-gonad axis and the consequent genital development work and to understand, whenever possible, what the problem was to be able to build the best plan to support families and patients.
2018
- Secondary prevention of early-onset sepsis: A less invasive Italian approach for managing neonates at risk
[Articolo su rivista]
Berardi, Alberto; Tzialla, Chryssoula; Travan, Laura; Bua, Jenny; Santori, Daniele; Azzalli, Milena; Spada, Caterina; Lucaccioni, Laura
abstract
Strategies to prevent early-onset sepsis (EOS) have led to a substantial decline in many countries. However, one of the most controversial topics in neonatology is the management of asymptomatic full-term and late preterm neonates at risk for EOS, and guidelines lack substantial consensus regarding this issue. A strategy for managing neonates, entirely based on serial physical examinations, has been developed in two Italian regions. This strategy seems safe, while reducing laboratory tests and unnecessary antibiotics. In the current commentary we provide area-based data concerning the prevention of EOS in 2 northern Italian regions, and we detail the results of their strategy for managing healthy-appearing newborns at risk for EOS.
2018
- Shifting of the body center of gravity in low-risk preterm infants: A video-pedoscope study
[Articolo su rivista]
Bertoncelli, N.; Lucaccioni, L.; Ori, L.; Einspieler, C.; Prechtl, H. F. R.; Ferrari, F.
abstract
Aim: To evaluate whether there is any developmental course of the shifting of the center of gravity (COG) in healthy preterm infants. Methods: Eleven healthy preterm infants were assessed on a computerized pedoscope from early preterm to term age. Data from the pedoscope and the videorecorder were analyzed with a special software for the assessment of the COG shifting. Infants were placed on the pedoscope in supine position for 5 min. We scored the positions of the COG during its shifting, the body parts most frequently involved in its shifting and the shifting’ amplitude at each epoch. We scored the frequency of the COG shifting in head, trunk and bottom, its direction and amplitude using a semi-quantitative scale. Results: A developmental course of the COG shifting from preterm throughout post-term ages was demonstrated, with COG position displaced from head to bottom. The shifting amplitude decreased with increasing age. Lateral shifting were never observed. Interpretation: The developmental course of the COG shifting suggests the maturation of postural behaviour in healthy preterm infants. The displacement of the COG from head to bottom and the reduced amplitude of the COG shifting from preterm to post-term age indicates a more stable body position.
2018
- The Effect of GnRH-Analogue Therapy on the Quality of Life of Patients with Central Precocious Puberty and their Families
[Abstract in Rivista]
Lucaccioni, Laura; Marisa, Pugliese; Manzotti, Elena; Bruzzi, Patrizia; Righi, Beatrice; Poluzzi, Silvia; Madeo, Simona F.; Elena, Bigi; Predieri, Barbara; Iughetti, Lorenzo
abstract
Introduction: Quality of life (QoL) is a multidimensional indicator including several functions and represents an important evaluator of patient’s health, especially in chronic diseases. Treatment with aGnRH in Central Precocious Puberty (CPP) is source of stress for patients and families. The aim of our study is to evaluate
QoL and levels of therapy-related stress in patients with CPP and in their families during and after treatment.
Material and Methods: 56 patients (2 males) with CPP attending a tertiary Endocrinological Outpatient Clinic in 2015 and 2016 were enrolled. The population was divided, according to their age, in 4 categories: G1: 3 patients, 4-7 years; G2: 15 patients, 8-12 years, G3: 13 patients, 13-18 years, G4: 25 patients beyond 18 years. Groups G1 and G2 were on therapy with aGnRH, G3 were off therapy, still on clinical follow up, G4 were off therapy. We also evaluated 30 controls paired for age and level of instruction. Each patient underwent 2 questionnaires: the “Pediatric Quality of Life Inventory” (PedsQL) and a tailored “ad-hoc” questionnaire to investigate self perception in CPP. Parents also underwent the latter questionnaire.
Results and Discussion: No significant differences were detected comparing PedsQL scores among G1, G2 and G3 groups each others nor comparing patients and controls. A difference statistically significant was detected in the evaluation of physical functions between G2 and controls (p: 0.02). In G2 and G3 no significant association was found between the duration of treatment and the 4 functions of PedsQL. For the self perception questionnaire scores, although no significant differences among G1, G2 and G3 themselves nor between patients and their parents were detected, the scores trend showed in patients an amount of stress therapy-related increasing proportionally with age. For G4 a direct correlation was identified between duration of treatment and emotional stress, and lower scores about self-esteem were identified, referring both to the period of therapy and the period of questionnaire’s compilation.
Conclusion: In CPP, from the PedsQL, it appears that therapy with aGnRH only affects QoL on physical functions. Levels of emotional stress therapy-related, detected through ad-hoc questionnaire, increase in treated patients, independently from the treatment interruption. In off-therapy patients a decreased self-esteem and an indirect correlation between emotional stress and duration of treatment were found, underlining the effect of therapy in self perception.
2017
- CONSEGUENZE METABOLICHE A BREVE E LUNGO TERMINE IN PAZIENTI CON PUBERTÀ PRECOCE CENTRALE TRATTATI CON GNRHA IN ETÀ EVOLUTIVA: STUDIO LONGITUDINALE MONOCENTRICO
[Abstract in Atti di Convegno]
Bruzzi, Patrizia; Manzotti, Elena; Elena, Bigi; Lucaccioni, Laura; Ciancia, Silvia; Righi, Beatrice; Predieri, Barbara; Iughetti, Lorenzo
abstract
OBIETTIVI In letteratura i dati disponibili sugli effetti metabolici della terapia con analoghi del GnRH (GnRHa) nei pazienti con pubertà precoce centrale (CPP) sono limitati e discordanti. Scopo dello studio è stato quello di valutare alterazioni, nel breve e nel lungo termine, dell’assetto metabolico in una coorte di pazienti con CPP trattati con GnRHa.
METODI Sono stati reclutati 92 pazienti (7.49±1.21 anni; 4.3% maschi) con CPP trattati con GnRHa e seguiti nel periodo 1997-2016. Sono stati raccolti dati anamnestici, auxologici e biochimici [glicemia, insulina, homeostatic model assessment index (HOMA), glicemia/insulina ratio, colesterolo totale (TC), LDL-colesterolo (LDL-C), HDL-colesterolo (HDL-C), trigliceridi e LDL-C/HDL-C ratio] all’inizio della terapia (T0), durante la terapia (T1; follow-up medio 1.65±0.74 anni) e dopo la sua sospensione (T2; follow-up medio 8.50±4.51 anni). Per l’analisi statistica la popolazione è stata anche suddivisa in base al BMI-SDS al T0 (gruppo N, normopeso; gruppo S, sovrappeso; gruppo O, obesità).
RISULTATI Considerando l’intera coorte di pazienti abbiamo dimostrato un incremento del BMI-SDS durante terapia seguito da una riduzione al T2 (T0: 0.97±1.05 vs. T1: 1.18±1.04 vs. T2: 0.63±1.20; χ2=25.4; p<0.01). Tale variazione del BMI-SDS è stata riscontrata nel gruppo N (χ2=15.8; p<0.01), mentre non è stata evidenziata nel gruppo S. Nel gruppo O abbiamo dimostrato una riduzione del BMI-SDS al T2 sia rispetto T0 sia T1 (χ2=14.8; p<0.01). L’analisi di correlazione ci ha permesso di evidenziare una correlazione statisticamente signifi cativa tra BMI-SDS al T2 e BMI-SDS al T0 (r=0.70, p<0.01) e con l’età all’inizio della terapia (r=-0.30, p<0.01). L’analisi di regressione multipla, ha identifi cato il BMI-SDS al T0 come unico fattore predittivo positivo indipendente del BMI-SDS al T2 (β 0.93, SE 0.09, p<0.01). Nella popolazione totale di pazienti, l’assetto lipidico è migliorato dopo la sospensione della terapia con GnRHa (TC: 156.5±28.7 vs.162.8±28.6 vs.149.6±23.2 mg/dl, χ2=7.97, p=0.01; LDL-C/HDL-C ratio 1.57±0.55 vs. 2.07±0.77 vs. 1.62±0.62, χ2=10.70, p<0.01). L’assetto glucidico non si è modificato durante i tempi di studio.
CONCLUSIONI Nei bambini con CPP, l’effetto metabolico negativo della terapia con GnRHa sembra essere moderato e reversibile nel tempo dopo la sospensione. Il peggioramento del BMI-SDS durante la terapia risulta più evidente nei pazienti inizialmente normopeso.
2017
- Central Precocious Puberty and Response to GnRHa Therapy in Children with Cerebral Palsy and Moderate to Severe Motor Impairment: Data from a Longitudinal, Case-Control, Multicentre, Italian Study
[Articolo su rivista]
Bruzzi, Patrizia; Messina, Maria Francesca; Bartoli, Alessandra; Predieri, Barbara; Lucaccioni, Laura; Madeo, Simona Filomena; Verrotti, Alberto; De Luca, Filippo; Iughetti, Lorenzo
abstract
Children affected by neurodevelopmental disability could experience early pubertal changes at least 20 times more
than the general population. Limited data about central precocious puberty (CPP) among children affected by cerebral palsy
(CP) are available. Methods. This is a longitudinal, observational, retrospective, case-control study involving 22 children
affected by CPP and CP (group A), 22 paired with CP but without CPP (group B), and 22 children with CPP without CP.
Auxological, biochemical, and instrumental data were collected at diagnosis of CPP and at 2 follow-up visits. Results. No
differences were detected between groups A (at baseline) and B. At diagnosis of CPP, height SDS adjusted for target height
(H-TH SDS) was significantly reduced in A than in C (−0.63 ± 1.94 versus 1.56 ± 1.38), while basal LH and oestradiol levels
were significantly elevated in A than in C. During follow-up, despite an effective treatment, growth impairment deteriorated
in A than in C (Δ H-SDS from diagnosis of CPP to last follow-up: −0.49 ± 0.91 versus 0.21 ± 0.33, p = 0 023). Conclusions.
Diagnosis of CPP could be partially mislead in CP due to growth failure that got worse during follow-up despite therapy. CPP
in CP seems to progress rapidly along time supporting the hypothesis of a more intense activation of hypothalamic-pituitarygonadal-
axis in these patients.
2017
- Challenges in the development and growth of small for gestational age newborns
[Articolo su rivista]
Iughetti, Lorenzo; Lucaccioni, Laura; Ferrari, Fabrizio.
abstract
Introduction: Being born with low birth weight (less than 2.500 gr) is considered a public health
problem, with an overall world rate of about 14%. Low birth weight may result from a premature birth
(< 37 weeks of gestation), from several causes of intra-uterine growth restriction or from a combination
of both.
Areas covered: We described how, if weight and/or length at birth are not adequate for gestational
age, the newborn is considered ‘small for gestational age’ and may present several growth, hormonal
and developmental peculiarities, possibly due to the growth restriction developed during pregnancy.
Expert commentary: We provide a description of the possible mid-term consequences of being born
small for gestational age and how to follow and provide care for these babies from a multidisciplinary
point of view.
2017
- Disturbi neurologici minori nel neonato pretermine
[Capitolo/Saggio]
Lucaccioni, Laura; Martignoni, Laura; Talucci, Giovanna; Della Casa Muttini, Elisa; Ori, Luca; Lugli, Licia; Guidotti, Isotta; Berardi, Alberto; Bertoncelli, Natascia; Ferrari, Fabrizio.
abstract
Nella quotidiana pratica clinica è esperienza comune trovarsi di fronte a
bambini il cui quadro neurologico, nei primi mesi di vita, non sempre risulta
chiaro, suscitando il dubbio di trovarsi di fronte alla patologia vera e propria,
o a varianti para-fisiologiche della normalità.
Questo deriva dal fatto che non esiste una consensus internazionale sui
disturbi neurologici minori nei primi mesi di vita, ma anche e soprattutto dal
fatto che, prima di parlare di ciò che risulta essere patologico o potenzialmente
tale, dovremmo avere ben in mente ciò che risulta essere “normale”. In
merito a questo non possiamo non citare Ronald Illingworth, medico inglese
vissuto nel ventesimo secolo e divenuto uno dei più importanti esponenti
della pediatria dello sviluppo, trasformando la pratica clinica con il suo
esempio e le sue innumerevoli pubblicazioni. Lui diceva «Chi si occupa del
bambino (pediatra) deve conoscere la normalità, come il chirurgo conosce
l’anatomia» e ancora «siamo tutti in grado di dire quale sia il livello medio
di sviluppo di un bambino a una determinata età, ma nessuno può dire ciò
che è normale, perché è impossibile tracciare la linea di demarcazione tra
normale e anormale». Guardando a queste affermazioni, questo capitolo
vuole chiarire dapprima cosa possiamo ritenere normale a una determinata
età dello sviluppo e successivamente enucleare quali invece siano i disturbi
neurologici minori dei primi due anni di vita.
2017
- Early Markers of Poor Outcome in Neonatal Medicine
[Capitolo/Saggio]
Ferrari, Fabrizio; Lugli, Licia; Garetti, Elisabetta; Guidotti, Isotta; Pugliese, Marisa; Lucaccioni, Laura
abstract
A major issue for neonatologists and developmental neurologists is the identification of those infants who are at risk of subsequent neurodevelopmental disability and who may benefit from neurological follow-up and early intervention strategies. The incidence of major disabilities has decreased in very preterm and extremely preterm infants, although nearly half of the population suffers from minor disabilities as learning disabilities, cognitive defects, attention deficit/hyperactivity disorders, and behavioral problems, especially at school age. Neuroimaging needs to be accompanied by an accurate clinical assessment of the functional repertoire of the infant, which varies according to the stage of development.
2017
- IMPATTO DELLA TERAPIA CON ANALOGO DEL GNRH SULLA QUALITÀ DELLA VITA DEI PAZIENTI CON CPP E DELLE LORO FAMIGLIE
[Abstract in Atti di Convegno]
Lucaccioni, Laura; Marisa, Pugliese; Bruzzi, Patrizia; Elena, Bigi; Madeo, Simona F.; Manzotti, Elena; Rocca, Laura; Predieri, Barbara; Iughetti, Lorenzo
abstract
OBIETTIVI La qualità di vita (QoL) è un importante componente dello stato di salute del paziente ed è un indicatore delle conseguenze a lungo termine di malattia cronica. Non sussiste, tuttavia, concordanza tra gravità della malattia, trattamento e QoL. Obiettivo del nostro studio è quello di valutare la QoL dei bambini affetti da pubertà precoce centrale in trattamento con aGnRH e dopo la terapia e dei loro genitori.
METODI Sono stati valutati 56 pazienti (2M) di cui 3 di età compresa fra 4-7 aa(G1), 15 fra 8-12aa(G2), 13 fra 13-18aa(G3), 25>18aa(G4) e comparati a 25 controlli(4-18 aa). Tutti sono stati sottoposti al questionario “Paediatric Quality of Life Inventory” (PedsQL) che valuta funzione fisica, emotiva, sociale, scolastica, e ad un questionario messo a punto per valutare lo stress emotivo correlato alla terapia (SET). I genitori di G1, G2, G3 sono stati sottoposti a PedsQL per le scale di funzione emotiva e sociale.
RISULTATI Per tutte le scale del PedsQL non sussiste differenza significativa fra G1, G2, G3 e controlli. Dal confronto figli/genitori non emergono differenze significative nei gruppi G1(p= 0.59); G2(p=0.61); G3 (p=0.48). Inoltre, in G2 e G3 non c’è correlazione fra le 4 scale del PedsQL e durata del trattamento. Comparando SET nei quattro gruppi, si evince come sussista una differenza signifi cativa fra G2 e G4 (p=0.029) e fra G3 e G4 (p=0.011). Per i gruppi G2 e G3 la durata del trattamento non sembra essere correlata con SET né nei pazienti (p=0.94; p=0.52) né nei genitori (p=0,21; p=0.7). In G4, tuttavia, sussiste una correlazione significativa fra durata della terapia e SET (p:0.021, r 0.47). Inoltre, in G4 SET è risultato essere maggiore riferendosi al periodo del trattamento rispetto al momento di compilazione del questionario(p<0.001).
CONCLUSIONI La terapia con aGnRH, valutata mediante PedsQL, non sembra inficiare la QoL sia dei pazienti in trattamento che dei loro genitori, indipendentemente dalla durata della terapia. Tuttavia è stato possibile identificare, mediante questionario specifico, come i livelli di stress emotivo siano aumentati nei pazienti in trattamento rispetto agli offtherapy e, in questi ultimi, come sussista una correlazione tra stress emotivo e durata del trattamento.
2017
- Infant and Family-Centred Individualized Developmental Care secondo il metodo NIDCAP
[Capitolo/Saggio]
Ferrari, Fabrizio; Bertoncelli, Natascia; Lucaccioni, Laura; Torcetta, Francesco; Pugliese, Marisa; Cuomo, Giovanna; Sabbioni, Federica; Mazzi, Cinzia; Cosimo A., Cinzia; Palombaro, Stefano; Ierardi, Gianluigi; Garetti, Elisabetta.
abstract
.
2017
- La diagnosi precoce di paralisi cerebrale infantile nel neonato pretermine
[Capitolo/Saggio]
Ferrari, Fabrizio; Lucaccioni, Laura; Bertoncelli, Natascia; Todeschini, A; Cavalleri, Francesca; Della Casa Muttini, Elisa; Lugli, Licia; Coccolini, Elena; Guidotti, Isotta; Spaggiari, Eugenio; Ori, Luca; Berardi, Alberto.
abstract
.
2017
- Maternal voice and its influence on stress and sleep
[Capitolo/Saggio]
Ferrari, Fabrizio; Talucci, Giovanna; Ori, Luca; Bertoncelli, Natascia; Filippa, Manuela; Lucaccioni, Laura
abstract
Introduction: Several developmental care programmes in NICU have been created to minimize the consequences of prematurity and to promote preterm infantâs neurobehavioral and brain development. The foetus in the womb relies on the organic structure of the rhythms of motherâs heart, her breath patterns and overtone vibrations of her âvoice-supportedâ organizational development. Preterm birth interrupts the dialog between mother and foetus: changes of the sensory inputs and mother-driven environmental enrichment at this stage deeply affect the brain development and the stress regulation. Main aims of the chapter: We wonder if vocal intervention is associated to increased neuro-vegetative stability. Birth and neonatal adaptation to the extrauterine environment is terribly stressful, and early interventions should aim to stabilize neuro-vegetative functions from the delivery room and later on during the hospitalization. Early vocal contact (EVC), a specific form of acoustical intervention, seems to be able to reassure and stabilize the autonomic function of the baby. EVC appears to facilitate sleep and organization of behavioural states and the maturation of the autonomic nervous system. Conclusions: Intrauterine environment should be taken into account to tailor possible interventions for prematurity. Future work should aim to find simple and easy implement tools to assess and measure sleep and physiological stability (vagal tone) of the newborn. In this prospective, maternal vocal intervention may play a fundamental role in supporting and integrating neonatal clinical care.
2017
- Neurological Examination of the Newborn Infant
[Capitolo/Saggio]
Ferrari, Fabrizio; Lugli, Licia; Ori, Luca; della Casa, Elisa; Guidotti, Isotta; Bertoncelli, Natascia; Lucaccioni, Laura
abstract
A simple neurological screening examination should be performed on all term and preterm newborn infants, as part of the general medical examination. A full comprehensive neurological examination (NE) of the newborn infant should fulfill diagnostic and prognostic aims. As far as diagnosis is concerned, the NE needs to assess the severity of the acute (or subacute) brain dysfunction and to select those babies who may benefit from therapeutic hypothermia; the cooled newborn babies need to be assessed with serial NE during the first days after birth. As to the prognostic power of NE, repeated longitudinal assessment is needed in order to depict a developmental trajectory that better predicts the developmental outcome. The NE available for preterm and term newborn infants are discussed in relation to their peculiarities and strengths.
2017
- Sviluppo Neuromotorio e Psichico
[Capitolo/Saggio]
Ferrari, Fabrizio; Lucaccioni, Laura; Del Giudice, Ennio
abstract
.
2017
- Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea
[Articolo su rivista]
Amato, Felice; Cardillo, Giuseppe; Liguori, Renato; Scorza, Manuela; Comegna, Marika; Elce, Ausilia; Giordano, Sonia; Lucaccioni, Laura; Lugli, Licia; Cardile, Sabrina; Romano, Claudio; Pezzella, Vincenza; Castaldo, Giuseppe; Canani, Roberto Berni
abstract
OBJECTIVES:: we aimed to improve the knowledge of pathogenic mutations in sporadic cases of congenital chloride diarrhea (CCD) and to emphasize the importance of functional studies to define the effect of novel mutations. METHODS:: all SLC26A3 coding regions were sequenced in 17 sporadic CCD patients. Moreover, the minigene system was used to analyse the effect of two novel splicing mutations. RESULTS:: we defined the SLC26A3 genotype of all 17 CDD patients and we identified twelve novel mutations. Using the minigene system we confirmed the in silico prediction of a complete disruption of splicing pattern caused by two of these novel mutations: the c.971+3_971+4delAA and c.735+4_c.735+7delAGTA. Moreover, several prediction tools and a structure-function prediction defined the pathogenic role of six novel missense mutations. CONCLUSION:: we confirm the molecular heterogeneity of sporadic CDD adding twelve novel mutations to the list of known pathogenic mutations. Moreover, we underline the importance, for laboratories that offer molecular diagnosis and genetic counseling, to perform fast functional analysis of novel mutations.
2017
- Valutazione auxologica e della motilità spontanea attraverso il metodo dei General Movements nel neonato a termine Small for Gestational Age
[Abstract in Atti di Convegno]
Lucaccioni, Laura; Ferrari, Fabrizio; Badiali, Licia; Cingolani, Greta M.; Iughetti, Lorenzo
abstract
.
2016
- A Prospective Evaluation of Urinary Gonadotrophins for Assessment and Management of Pubertal Disorders
[Abstract in Rivista]
Lucaccioni, Laura; Mcneilly, Jane; Mcmillan, Martin; Kyriakoua, Andreas; Shaikh, Guftar; Predieri, Barbara; Mason, Avril; Ahmed, Faisal
abstract
UGn is a valuable, non-invasive instrument for diagnosis of early puberty. Its clinical utility in personalising GnRH-a therapy needs further exploration.
2016
- Cell therapies for pancreatic beta-cell replenishment.
[Articolo su rivista]
Okere, Bernard; Lucaccioni, Laura; Dominici, Massimo; Iughetti, Lorenzo
abstract
The current treatment approach for type 1 diabetes is based on daily insulin injections, combined with blood glucose monitoring. However, administration of exogenous insulin fails to mimic the physiological activity of the islet, therefore diabetes often progresses with the development of serious complications such as kidney failure, retinopathy and vascular disease. Whole pancreas transplantation is associated with risks of major invasive surgery along with side effects of immunosuppressive therapy to avoid organ rejection. Replacement of pancreatic beta-cells would represent an ideal treatment that could overcome the above mentioned therapeutic hurdles. In this context, transplantation of islets of Langerhans is considered a less invasive procedure although long-term outcomes showed that only 10 % of the patients remained insulin independent five years after the transplant. Moreover, due to shortage of organs and the inability of islet to be expanded ex vivo, this therapy can be offered to a very limited number of patients. Over the past decade, cellular therapies have emerged as the new frontier of treatment of several diseases. Furthermore the advent of stem cells as renewable source of cell-substitutes to replenish the beta cell population, has blurred the hype on islet transplantation. Breakthrough cellular approaches aim to generate stem-cell-derived insulin producing cells, which could make diabetes cellular therapy available to millions. However, to date, stem cell therapy for diabetes is still in its early experimental stages. This review describes the most reliable sources of stem cells that have been developed to produce insulin and their most relevant experimental applications for the cure of diabetes.
2016
- Drepanocitosi. Nuovi aspetti della diagnosi precoce e della cura
[Articolo su rivista]
Bigi, Elena; Palazzi, Giovanni; Lucaccioni, Laura; Iughetti, Lorenzo
abstract
: La drepanocitosi (SCD) è uno dei più diffusi disordini monogenici al mondo. E’ caratterizzata da ricorrenti crisi dolorose vaso-occlusive (VOC) e complicanze respiratorie (ACS), cause principali di accesso ai Dipartimenti di Emergenza.
2016
- Il ruolo della Scuola di Specializzazione di Pediatria di Unimore nell’assistenza ai bambini vittime di terremoto
[Capitolo/Saggio]
Iughetti, Lorenzo; Codifava, Margherita; Vellani, Giulia; Pietrangiolillo, Zaira; Cipolli, Stefania; Venturelli, Cristina; Lucaccioni, Laura.
abstract
.
2016
- Impatto degli eventi tellurici del 2012 sul controllo glicemico di bambini e adolescent affetti da diabete mellito di tipo 1
[Capitolo/Saggio]
Bruzzi, Patrizia; Predieri, Barbara; Madeo Simona, F; Lucaccioni, Laura; Iughetti, Lorenzo.
abstract
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2016
- Issues in Diagnosis and Treatment of Type 1 Diabetes Mellitus in Childhood
[Articolo su rivista]
Lucaccioni, Laura; Iughetti, Lorenzo
abstract
Type 1 Diabetes Mellitus remains one of the most complex chronic diseases in childhood. Although advances in knowledge and technology, as the use of insulin pumps or glucose sensors, have improved the quality of life of patients, the onset of the disease, as well as long-term treatment and diet, are pitfalls for families and clinicians. It is important to bear in mind that acute, life-threatening consequences of uncontrolled diabetes are hyperglycemia with ketoacidosis, both in new diagnosis and in patients already on treatment, and may be hidden by other symptoms. Moreover, treatment with insulin and diet should always be tailored on lifestyle habits and age of the patient. Aim of this work is to briefly summarise and comment what are the worst insidious aspects of Diabetes and what are the best strategies to improve the management of the disease in childhood.
2016
- Prevalence and risk factors for microalbuminuria in children and adolescents with type 1 diabetes: long-term experience of a single centre
[Abstract in Rivista]
Iughetti, Lorenzo; Bruzzi, Patrizia; Dozza, Alessandra; Boncompagni, Alessandra; Cenciarelli, Valentina; Mazzoni, Silvia; Lucaccioni, Laura; Predieri, Barbara
abstract
Objectives: Diabetic nephropathy is a late complication of type 1 diabetes mellitus (T1DM) and microalbuminuria (MA) is an early and reversible sign of diabetic renal disease. Aims of this longitudinal study were: to define the prevalence of MA in children and adolescents with T1DM; to identify which risk factors are predictive for the development of MA.
Methods: Seventy children and adolescents with T1DM [57% male; age at T1DM onset (T0) 5.95 3.16 yrs] were enrolled. The mean follow-up (FU) period was 7.18 1.89 yrs. Blood and urinary tests were performed once a year from the T0. MA screening was evaluated by urinary albumin concentration (UAC) or by timed urine collections for urinary albumin/creatinine ratio (ACR). MA was considered persistent (PMA) when at least 2 out of 3 consecutive evaluation of
UAC and/or ACR were found positive.
Results: PMA was found in 13% of patients. Subjects with PMA compared to normoalbuminuric ones had both significantly higher GFR at T0 (p = 0.025) and UAC at 1-year FU (T1) (p = 0.045). Predictive cut-off values for PMA development were 160 ml/min/1.73 m2 for GFR at T0 (sensitivity: 57%, specificity: 75%) and 8.5 mg/L for UAC at T1 (sensitivity:75%, specificity:80%). Relative risk for PMA was 23-times higher when UAC was >8.5 mg/L (p = 0.004). Kaplan-
Meier survival curves as a function of age at T0 showed an increased probability of developing PMA among children in which T1DM onset occured between 5 and 11 years of age compared to those with younger onset (p = 0.014) and a pubertal diabetes duration >5 years was also a significant risk factor for PMA (p < 0.0005).
Conclusions: Age at T1DM onset, pubertal timing, high UAC, and hyperfiltration predispose to PMA development and increase the risk for diabetic nephropathy. Specific cut-off values at T1DM onset and during first years of FU could provide indications to avoid disease progression.
2016
- Renal Anomalies in Children with Turner Syndrome: Experience from a Single-Centre
[Abstract in Rivista]
Lucaccioni, Laura; Choong Wong, Sze; Strano, Rosario; Donaldson, Malcolm; Cascio, Salvatore; Mason, Avril
abstract
Background: Renal abnormalities are estimated to be present in 30–40% of Turner Syndrome (TS). Monosomic patients have a reported greater risk for renal anomalies.
Objective: To assess the frequency of renal malformations in TS according to karyotype; and report related complications at most recent follow up.
Methods: The medical records of 182 patients with TS born between 1970 and 2013 were retrospectively reviewed.
Results: Twenty-one girls (11.5%) were identified with renal/urological anomalies: 15 (71%) horseshoe kidney (HSK), 1 (4.7%) malrotation, 2 (9.5%) single kidney, 1 (4.7%) duplex collecting system (DCS) associated with renal arteries abnormalities and vesicoureteral reflux (VUR), 1 (4.7%) pelvic kidney and 1 (4.7%) crossed fused ectopia associated with DCS. In addition 5 (33%) patients with HSK had associated urological anomalies: VUR (1), DCS and VUR (1), pelvic-ureteric junction obstruction (1), calyceal and pelvic dilatation (2). In 12 patients (57%) urological anomalies were identified incidentally, in 7 (33.3%) diagnosis followed recurrent urinary tract infections (UTI) while 2 (4.7%) were diagnosed antenatally. Karyotype was 45,X in 9 (43%) with mosaicism in the rest and no correlation between karyotype and specific renal abnormalities (p, 0.265 OR 1.49 (95% CI 0.598, 3.716). Each patient had a renal ultrasound and DMSA to confirm the diagnosis, while 3 underwent micturating cystogram. On long term follow 9 developed nephro-urological complaints: 3 were found to have renal parenchymal damage on DMSA scan, 2 recurrent UTI, 2 hypertension, 1 recurrent haematuria, 1 progressed to chronic kidney disease stage 1. Only one patient required surgical intervention (pyeloplasty).
Conclusion: Renal anomalies were detected in about 12% of our large series of patients with TS. Most recent follow-up shows that 43% of our study population developed renal complaints, highlighting that once a urological anomaly is detected, close follow-up is warranted.
2016
- The measurement of urinary gonadotropins for assessment and management of pubertal disorder
[Articolo su rivista]
Lucaccioni, Laura; Mcneilly, Jane; Mason, Avril; Giacomozzi, Claudio; Kyriakou, Andreas; Guftar Shaikh, Mohammed; Iughetti, Lorenzo; Faisal Ahmed, Syed
abstract
OBJECTIVE: Measurement of urinary LH (uLH) and FSH (uFSH) may facilitate non-invasive pubertal assessment but there is a need for further validation by studying children and adolescents with disorders of puberty. DESIGN: 65 cases (Male: 25) with a median age of 12 years (2.9-18.1) supplied at least one non-timed urine sample for uLH and uFSH measurement by immunoassay and corrected for creatinine excretion. 25 cases were receiving GnRH-agonist (GnRH-a) at the time of sample collection. In 41 cases, urine samples were collected prior to a LH RH test and in 12 cases matched serum samples for basal LH (sLH) and FSH (sFSH) were also available. RESULTS: There was a significant correlation between sLH and uLH: uCr (r=0.82; p-value <0.001) and sFSH and uFSH: uCr (r=0.93; p-value <0.001). Based on receiver operator characteristics analysis, a uLH : uCr value of 0.05 IU/mmol as a cut-off would detect a LH peak >5U I/L with a sensitivity of 86% and a specificity of 72% with a positive predictive value of 93%. In pubertal boys (6) and girls (22) with a sLH peak >5UI/L, median uLH: uCr was 0.27 IU/mmol (0.27-0.28) and 0.17 IU/mmol (0.09-0.43), respectively. The median uFSH: uCr was 0.51 IU/mmol (0.41-0.60) for boys and 1.1 IU/mmol (0.21-2.44) for girls. In the 25 cases on GnRH-a, the median uLH : uCr for boys and girls was 0.02 IU/mmol (0.01-0.02) and 0.02 IU/mmol (0.004-0.07), respectively, and the median uFSH: uCr was 0.07 IU/mmol (0.05-0.09) and 0.27 IU/mmol (0.09-0.54), respectively. CONCLUSION: Urinary gonadotrophins reflect serum gonadotrophin concentration and may represent a reliable non-invasive method of assessing pubertal progress.
2016
- The ontogeny of fidgety movements from 4 to 20 weeks post-term age in healthy full-term infants
[Articolo su rivista]
Ferrari, Fabrizio; Frassoldati, Rossella; Berardi, Alberto; Di Palma, Francesca; Ori, Luca; Lucaccioni, Laura; Bertoncelli, Natascia; Einspieler, Christa
abstract
.
2015
- Associated renal anomalies in children with Turner syndrome: 43-year experience from a single-centre
[Abstract in Rivista]
Lucaccioni, Laura; Wong, S C; Strano, Rosario; Donaldson, Malcolm; Cascio, Salvatore; Mason, Avril
abstract
.
2015
- Central Precocious Puberty in Cerebral Palsy
[Abstract in Rivista]
Bruzzi, Patrizia; Messina, Maria Francesca; Bartoli, Alessandra; Lucaccioni, Laura; Predieri, Barbara; De Luca, Filippo; Iughetti, Lorenzo
abstract
Children affected by cerebral palsy (CP) could experience central precocious puberty (CPP) 20 times more than
general population. Nevertheless, the treatment is challenging.
2015
- Childhood obesity and environmental pollutants: a dual relationship
[Articolo su rivista]
Iughetti, Lorenzo; Lucaccioni, Laura; Predieri, Barbara
abstract
The rise in obesity rates is an alarming global health concern. Despite obesity is mainly due to an unbalanced energy intake and expenditure, several recent studies suggest that it could be a consequence of exposure during critical developmental windows to environmental chemicals disrupting endocrine functions. This suggests that a shift is occurring in the human body pathways used to integrate changing nutritional and environmental variables and to maintain metabolic balance and body weight. This review highlights the role of pesticides, in particular endocrine disrupter ones, on obesity pathogenesis in childhood and summarizes the current under-standing of the major environmental influences on pediatric obesity. (www.actabiomedica.it).
2015
- Evaluation of Cardiovascular Risk in Childhood: Data from a Survey of Dyslipidaemic Children
[Abstract in Rivista]
Bruzzi, Patrizia; Colombini, Giulia; Lucaccioni, Laura; Predieri, Barbara; Iughetti, Lorenzo
abstract
Dyslipidaemia is a well-known risk factor in developing cardiovascular disease (CVD) already in childhood.
2015
- Familial Short Stature Associated to Terminal Microdeletion of 15q26.3: Variable Phenotype not Involving the IGF1 Receptor Gene
[Abstract in Rivista]
Lucaccioni, Laura; Madeo, Simona Filomena; Stanghellini, Ilaria; Bruzzi, Bruzzi; Predieri, Bruzzi; Iughetti, Lorenzo; Percesepe, Antonio
abstract
Terminal deletions of chromosome 15q are associated with different degrees of pre- and post-natal growth failure, dysmorphic features, functional impairments and congenital anomalies. Although monosomies of 15q26 do not represent a classical contiguous gene syndrome, candidate genes
for selected features have been identified. Short stature is referred to deletions of the IGF1-R gene, located on 15q26.3. We demonstrate evidence of phenotype comparable with 15q26
monosomy in a family with microdeletion of 15q26.3 not involving IGF1-R gene.
2015
- Leptin Replacement Improves Central Ventilation in a Patient with Congenital Leptin Deficiency: First Report in Childhood
[Abstract in Rivista]
Lucaccioni, Laura; L Davies, Philip; A Gibson, Neil; Farooqi, Sadaf; Guftar Shaikha, M
abstract
Background: Congenital leptin deficiency (CLD) is characterized by severe early-onset obesity due to hyperphagia and impaired satiety. The impact of obesity in obstructive sleep apnoea hypopnoea syndrome (OSAHS) was originally reported as mechanical, but recent data suggest that adipokines may influence central ventilation. We highlight that treatment with recombinant human leptin (RHL) in CLD with OSAHS improves ventilation before weight loss.
Case presentation: A 10-month-old female of Pakistani origin was severely obese (weight: 17.9 kg (+5.6 SDS) and BMI: 29.4 kg/m2 (+5.3 SDS)). Born at term to consanguineous parents. Mother reported rapid weight gain during first months of life, due to intense hyperphagia with food-seeking behaviour. Family history showed a first cousin with CLD: genetic analysis confirmed the same homozygous leptin mutation. RHL replacement was started with good reduction of appetite. Three months before starting treatment (weight: 26.1 kg (+7.6 SDS)) oxicapnography showed normal mean saturations and CO2 but clusters of deep desaturations (desaturation index (DI) 19.8/h of >4%). After 50 days of treatment polysomnography was performed showing a significant improvement in clusters of desaturation (DI 9.3/h) and a mixed pattern of both obstructive and central events with an apnoea hypopnoea index (AHI) 13.7/h. At this stage the weight was stable at 26.9 kg (+6.7 SDS), BMI was 34.8 kg/m2 (+6.6 SDS). After 5 months of treatment a significant loss of weight was seen (weight: 22.0 kg and BMI: 32.6 kg/m2, both at +4.7 SDS). Repeat polysomnography showed marked improvement with an AHI 4/h and a DI 4.2/h.
Conclusion: To the best of our knowledge, this is the first report showing an improvement in ventilation, in a patient with CLD following treatment with RHL before significant weight loss. In mice, leptin microinjections into specific brain areas, are associated with increased pulmonary ventilation and enhanced bioelectrical activity of inspiratory muscles, suggesting that leptin may influence ventilation through a direct effect on respiratory control centres. Leptin appears to have central effects on ventilatory regulation, which need to be explored further.
2015
- Leptin replacement improves central ventilation in a patient with congenital leptin deficiency: first report in childhood
[Abstract in Rivista]
Lucaccioni, Laura; Davies, Philip L; Gibson, Neil A; Farooqi, Sadaf; Shaikh, M Guftar
abstract
.
2015
- Precocious pubertal development: a challenge for pediatric endocrinologists
[Articolo su rivista]
Iughetti, Lorenzo; Lucaccioni, Laura
abstract
Precocious puberty is one of the most common conditions encountered in the pediatric endocrinology clinic and can be defined as the appearance of secondary sexual characteristics in girls under 8 years and boys under 9 years of age. The timing of pubertal onset has received increasing attention because of a reported gradual decline in age at menarche in most populations. Proposed mechanisms for these changes include: an improvement in socioeconomic conditions with consequent increased nutritional status and a rise in a number of environmental pollutants. The challenges for pediatric endocrinologists are increasing: what are the mechanisms of precocious puberty in modern society? Should our diagnostic criteria be changed? When to treat? What are the consequences of treatment? Little is known of the short and long term consequences of GnRH-analog treatment, especially in terms of psychological consequences for children and their families.
2015
- Ruolo delle gonadotropine urinarie nella diagnosi e nel trattamento dei disturbi dello sviluppo puberale
[Abstract in Atti di Convegno]
Lucaccioni, Laura; Mcneilly, J.; Mcmillan, M.; Kyriakou, A.; Shaikh, M. G.; Wong, J.; Predieri, Barbara; Mason, A.; Ahmed, S. F.
abstract
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2015
- The Risk of Metabolic Syndrome among Dyslipidemic Children and Adolescents
[Abstract in Rivista]
Predieri, Barbara; Colombini, Giulia; Mazzoni, Silvia; Bruzzi, Patrizia; Lucaccioni, Laura
abstract
In our outpatient setting of dyslipidemic children, the finding of high TG and low HDL levels helps in discriminating patients with MetS, especially when associated with increased BMI-SDS, insulin resistance and high SBP. Our data highlight the presence of a cluster of conditions that concurrently increased the cardiovascular risk already in childhood and, therefore, that had to be globally investigated.
2015
- The impact of the Italian guidelines on antibiotic prescription practices for acute otitis media in a paediatric emergency setting
[Articolo su rivista]
Palma, Silvia; Rosafio, Cristiano; DEL GIOVANE, Cinzia; Patianna, VIVIANA DORA; Lucaccioni, Laura; Genovese, Elisabetta; Bertolani, Paolo; Iughetti, Lorenzo
abstract
Acute otitis media (AOM) is one of the most common childhood infectious diseases. The recent Italian Pediatric Guidelines for the treatment of AOM constitutes a step forward in the management of children with uncomplicated AOM. The aim of this study was to evaluate antibiotic prescription patterns for AOM in a Pediatric Emergency Department (PED) after those guidelines were introduced and to assess the relationship between implementation of the "watchful waiting" strategy and the incidence of acute mastoiditis in the PED.
2015
- The measurement of urinary gonadotrophins for assessment and management of pubertal disorders
[Abstract in Rivista]
Lucaccioni, Laura; Mcneilly, Jane; Mcmillan, Martin; Kyriakou, Andreas; Wong, S C; Predieri, Barbara; Shaikh, M Guftar; Mason, Avril; Ahmed, S Faisal
abstract
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2015
- The pitfalls associated with urinary steroid metabolite ratios in children undergoing investigations for suspected disorders of steroid synthesis
[Articolo su rivista]
Lucas Herald, Angela K; Rodie, Martina; Lucaccioni, Laura; Shapiro, David; Mcneilly, Jane; Shaikh, M. Guftar; Ahmed, S. Faisal
abstract
Background: Urinary steroid metabolite ratios may improve the diagnostic yield of potential disorders of steroid hormone synthesis.Objectives: To investigate the range of ratios and their predictive value in children with suspected disorders of steroid synthesis.Design and methods: Twelve ratios were calculated on steroid metabolite data analysed by gas chromatography-mass spectrometry in urine samples collected between 2008-2010 from 93 children. Urine samples were also analysed in 252 children with no known endocrine concerns.Results: Of the 252 controls, 115 (46%) were male with a median age of 10 yr (range 1 month, 18.5 years). Of the 93 cases, 38 (41%) were male with a median age of 6.5 yr (1 day, 18.5 yrs). Of these, 41 (44%) had at least one ratio greater than the 95% percentile for controls. The most frequently abnormal ratio, found in 18/93 (19%) cases was (THS/(THE + THF + 5 alpha THF)) suggestive of 11 beta-hydroxylase deficiency. Over this period, 8 (9%) children were subsequently diagnosed with a steroid hormone disorder; 4 with 21-hydroxylase deficiency, 2 with 11 beta-hydroxylase deficiency and 2 with 5 alpha-reductase deficiency. All except one of these children had at least 1 raised ratio.Conclusions: Urinary steroid metabolite ratios in suspected disorders of hormone synthesis often exceed the reference range for normal children. The predictive value of steroid metabolite ratios in identifying a genetic abnormality may be condition specific and needs further study to improve its clinical utility.
2015
- Thyroid function in Down syndrome
[Articolo su rivista]
Iughetti, Lorenzo; Lucaccioni, Laura; Fugetto, Francesco; Mason, Avril; Predieri, Barbara
abstract
Down syndrome is the most commonly encountered human chromosomal disorder. Down syndrome is associated with thyroid dysfunction including: hypothyroidism, both congenital and acquired, and hyperthyroidism. A genetic predisposition and a propensity to acquire autoimmune disorders seem to be possible factors, though their causal relation remains unclear. The aim of the review is to describe what is currently known about the association between Down syndrome and thyroid dysfunction.
2015
- Turner syndrome-issues to consider for transition to adulthood
[Articolo su rivista]
Lucaccioni, Laura; Wong, Sze Choong; Smyth, Arlene; Lyall, Helen; Dominiczak, Anna; Faisal Ahmed, S.; Mason, Avril
abstract
Background Turner syndrome (TS) is associated with a spectrum of health problems across the age span, which requires particular attention during the transition period in these adolescents. Areas of agreement The majority of girls with TS require oestrogen replacement from puberty onwards, which is important for adequate feminization, uterine development and maintenance of bone health. There is a lifetime increased risk from autoimmune conditions like hypothyroidism, coeliac disease, hearing loss and aortic dilatation with the potential to lead to aortic dissection. A systematic and holistic approach to provision of health care in TS is needed. Areas of controversy Several unanswered questions remain, including the choice of hormone replacement therapy in the young person with TS and in adulthood; the optimal mode of cardiovascular assessment; the best management and assessment prior to and during pregnancy. Areas timely for developing research The optimal model of care and transition to adult services in TS requires attention. Further research is needed in relation to cardiovascular risk assessment, pregnancy management and hormone replacement therapy in TS.
2014
- Central precocious puberty in a 3 year-old girl with Phenylketonuria: A rare association?
[Articolo su rivista]
Lucaccioni, Laura; Schwahn, Bernd C.; Donaldson, Malcolm; Giacomozzi, Claudio
abstract
Background: Central precocious puberty (CPP) and phenylketonuria (PKU) are two rare conditions, the latter being the rarer. To date, only one case featuring both these conditions has been reported, and hyperphenylalaninemia was assumed triggering CPP.Case presentation: We present a 3.2 years old girl referred with a 12 months history of breast and pubic hair development, and vaginal discharge. Hyperphenylalaninemia had been identified by newborn screening and PKU subsequently confirmed by plasma amino acid and genetic analysis. Early dietary control of plasma phenylalanine had been excellent afterwards, resulting in phenylalanine concentrations consistently within the recommended range. Clinical scenario, hormonal assessment and imaging were in keeping with true idiopathic central precocious puberty. Treatment with long lasting gonadotropin-releasing hormone analogue led to regression of secondary sexual characteristics.Conclusion: We describe for the first time CPP in a girl affected with PKU but with persistently well controlled blood phenylalanine concentrations. This finding is in contrast to a previous report which suggested persistently high phenylalaninemia levels as potential trigger for CPP in PKU patients. Our report, together with the lack of evidence in published cohort studies of children with PKU, strongly suggests this rare association is coincidental and independent of the presence of severe hyperphenylalaninemia. © 2014 Lucaccioni et al.; licensee BioMed Central Ltd.
2014
- Clinical Utility of Urinary Steroid Metabolite Ratios in Children Undergoing Investigations for Suspected Disorders of Steroid Synthesis
[Abstract in Rivista]
Angela, Lucas-Herald; Martina, Rodie; Lucaccioni, Laura; Karen, Rankin; Guftar, Shaikh; Jane, Mcneilly; David, Shapiro; Faisal, Ahmed
abstract
Background: Calculation of a urinary steroid metabolite ratio (uSMR) may be a useful method of improving diagnostic yield when investigating disorders of steroid hormone synthesis. Our aim was to investigate the range of uSMR in children with suspected disorders of steroid hormone synthesis.
Methods: Ten ratios were calculated on steroid metabolite data analysed by GC-MS in urine samples collected between 2008 and 2010 from 94 children who were undergoing investigations. To obtain reference data, urine samples were also analysed in 252 children with no background of endocrine concerns.
Results: Of the 94 cases, 38 (40%) were male and the median age at the time of the test was 6.5 years (range 1 day–18 years). The most common indication for urinary steroid analysis was to investigate early puberty (22%). Of the 252 controls, 115 (46%) were male and the median age at the time of the test was 10 years (range 1 month–18 years). 40 (43%) had at least one ratio >2SDS above the mean for the reference range. The number of ratios per case which were >2SDS ranged from 1 to 6 (median 0). A high THS/(THE+THF+5αTHF) was the most commonly abnormal ratio and found to be >2SDS in 18 cases. A total of 9/94 (10%) cases were diagnosed with a steroid hormone disorder (true positives); 4 (44%) with 21-hydroxylase deficiency, 2 (22%) with 11β-hydroxylase CAH, 2 (22%) with 5α-reductase deficiency and 1 (11%) with Cushings disease. All except one of these patients had at least 1 ratio >2SDS. The case with the normal steroid hormone ratios was later diagnosed with 5α-reductase deficiency.
Conclusions: Abnormal urinary steroid metabolite ratios are commonly encountered in children undergoing investigations for disorders of steroid synthesis. On the other hand, the use of ratios may not identify all disorders of steroid synthesis, especially 5α-reductase deficiency.
2014
- Metabolic Assessment in Children with GH Deficiency Before, During, and After Human GH Replacement Therapy
[Abstract in Rivista]
Predieri, Barbara; Mazzoni, Silvia; V., Paraluppi; Patianna, VIVIANA DORA; Lucaccioni, Laura; S., Madeo; Bruzzi, Patrizia; Iughetti, Lorenzo
abstract
To assess changes of lipid profile, insulin-resistance
indexes, and CVD risk in children and adolescents with GHD
before, during, and after rhGH therapy
2014
- Recombinant Human GH Therapy Allows to Reach a Normal Final Adult Height in Coeliac Children with GH Deficiency due to Hypophysistis
[Abstract in Rivista]
Iughetti, Lorenzo; Lucaccioni, Laura; Bruzzi, Patrizia; A. R., Di Biase; A. M., De Bellis; Predieri, Barbara
abstract
In patients with CD and GHD the association of GFD and rhGH treatment seems to allow an adequate catch-up growth and the achievement of height within target height and presence of LYH seems not to influence the efficacy of the treatment.
2014
- Urinary Gonadotrophins for Assessment and Management of Pubertal Disorders
[Abstract in Rivista]
Lucaccioni, L.; Mcneilly, J.; Mason, A.; Giacomozzi, C.; Shaikh, M. G.; Ahmed, S. F.
abstract
This study aims to establish the correlation between serum and urinary LH and FSH in patients with pubertal concerns.
2014
- Vertebral fracture assessment in a paediatric population using dual-energy X-ray absorptiometry
[Abstract in Rivista]
Kyriakou, Andreas; Shepherd, Sheila; Lucaccioni, Laura; Shaikh, M Guftar; Mason, Avril; Ahmed, S Faisal
abstract
Background: Vertebral Fractures (VF) are recognized as an important aspect of bone health in children and adolescents. The clinical utility of vertebral fracture assessment (VFA) using dual-energy X-ray absorptiometry (DXA) has not been evaluated in the paediatric population. Method: VFA was performed independently by two non-radiologist observers, in 165 patients (77M/88F) as part of their investigation for low bone mineral density. Lateral thoracolumbar X-ray images (LXR) were obtained in 20/165 patients. The median age of the patients was 13.4 years (3.6, 18). Lateral DXA images of the spine from T6 to L4 were obtained using Lunar Prodigy DXA device. The diagnosis of VF was performed according to Genants semi-quantitative classification. Results: Interobserver agreement in vertebral readability using VFA was 94% (κ, 0.73 (95% CI, 0.68, 0.73)). The vertebrae not readable by both observers were 287/1815 (16%) and 266/287 (93%) were located between T6 and T9. Conversely, 1134/1155 (98%) of vertebrae from T10 through L4 were adequately visualised (P<0.0001). Among the 1528 vertebrae visualised by both observers, 72 (4.7%) in 45 (27%) patients and 84 (5.5%) in 48 (29%) patients were classified as VF by observer 1 and by observer 2, respectively. Interobserver per-vertebra agreement for the presence of VF was 99% (κ, 0.85 (95% CI, 0.79, 0.91)). Interobserver per-patient agreement was 91% (κ, 0.78 (95% CI, 0.66, 0.87)). The two observers had in common 67 (4.5%) VF in 39 (24%) patients and 18 (27%) of them were classified as moderate or severe. The anatomical distribution of VF was biphasic, with peaks located on T9 (odds ratio, 2.1 (1.1, 4.2)) and L4 (odds ratio, 1.7 (1.0, 3.4)). Among those who underwent both LXR and VFA, 24 (11%) VF in 6 (30%) patients and 20 (9%) VF in 5 (25%) patients were identified by LXR and VFA, respectively. Per-vertebra agreement was 95% (κ, 0.79 (95% CI, 0.62, 0.92)) and per-patient agreement was 95% (κ, 0.88 (95% CI, 0.58, 1.0)). Specificity of VFA was 98.4% per-vertebra and 100% per-patient. Conclusion: VFA reaches an excellent level of agreement between observers and a high level of specificity in identifying VF in paediatric population. The readability of vertebrae from T6 to T9 is suboptimal and interpretation at this level should be exercised with caution.
2013
- Diabetes mellitus related to Williams syndrome: first report of childhood onset
[Abstract in Rivista]
Lucaccioni, Laura; Guftar, M Shaikh; Ian Craigie, & Claudio Giacomozzi
abstract
Introduction: Williams syndrome (WS) is a multi-systemic disorder caused by a deletion in the region 7q11.23. Childhood endocrine follow-up is mainly aimed to monitor hypercalcemia and thyroid function. A high prevalence (63–71%) of impaired glucose tolerance (IGT) and diabetes mellitus (DM) in young adults with WS is reported. WS guidelines recommend Oral Glucose Tolerance Test (OGTT) starting from 30 years of age. We demonstrate evidence of IGT and DM in WS at a much earlier age.
Case report: A 15.6 years old WS female presented with history of polyuria and polydipsia. She was never overweight and initially presented with glycosuria, moderate ketonuria and hyperglycaemia without acidosis, during a gastroenteritis at the age of 4.2. Subsequently diabetic ketoacidosis appeared, insulin was started but shortly stopped for persistent hypoglycaemia. Subsequent glucose monitoring was normal and remained off insulin. At the age of 10 nocturnal polyuria became evident. Glycosuria, without ketosis or hyperglycaemia, was confirmed and classified as ‘renal glycosuria’ due to WS renal impairment. Recent investigations confirmed glycosuria without ketonuria, and raised HbA1c (51 mmol/mol). OGTT confirmed DM (T0=7.8 mmol/l; T120=15.3 mmol/l). Insulin assessment was not available, C-peptide secretion was impaired (T0=<0.1mmol/l; peak T60=0.32 nmol/l). Autoimmunity is still pending. Type 2 like DM with β-cells impairment was considered most probable and diet modifications and Metformin treatment were started, improving glucose metabolism.
Conclusions: We describe the youngest patient with DM associated with WS. Main hypothesis for the underling etiopathogenesis suggest hyperinsulinism secondary to insulin sensitivity reduction linked to genes involved in deletion. Lack of studies in childhood raises the issue about the timing of onset of DM. It is possible that hyperinsulinism could be present for many years before IGT. Our finding demonstrates for the first time the need for studies aimed to assess the prevalence of glucose metabolism abnormalities in WS during childhood with appropriate intervention.
2013
- E SE FOSSE UN PROBLEMA DI CLORO?
[Abstract in Rivista]
Lucaccioni, Laura; Lugli, L.; Frassoldati, Rossella; Di Biase, Ar; Iughetti, Lorenzo
abstract
N.A.
2013
- Impairment of inflammatory markers in children and adolescents with familial hypercholesterolaemia
[Abstract in Rivista]
Predieri, Barbara; Malmusi, Giovanni; Lucaccioni, Laura; Patianna, VIVIANA DORA; P., Bruzzi; Iughetti, Lorenzo
abstract
Our results demonstrated an increase of ICAM-1 and esRAGE levels, suggesting a progression of endothelial dysfunction, in asymptomatic FH children and adolescents despite a diet-induced improvement in lipid metabolism.
sM may be early indicators of vascular damage and, together with familial history of premature CVD, may help clinicians in identifying children at risk before CVD develops.
2013
- Urinary gonadotrophins: role in assessment and management of disorders of puberty
[Abstract in Rivista]
Lucaccioni, Laura; Jane, D McNeilly; Avril, Mason; M Guftar, Shaikh; Claudio, Giacomozzi; S Faisal, Ahmed
abstract
Introduction: With improvements in assays and the increasing need for non-invasive, out-patient based investigations, there is a renewed interest in the use of urinary gonadotrophins (UG) for assessing pubertal progress. This study aims to establish the correlation between serum and urinary LH and FSH in patients undergoing investigation or management of pubertal disorders.
Methods/design: Retrospective evaluation of eight patients undergoing investigation for pubertal delay (five males and three females) and 21 patients (six males and 15 females) for early puberty or suppression of puberty by GnRH agonist (GnRH-a) therapy. Median ages (range) for the boys and girls were 14.4 years (8.9–17.2) and 9.2 years (4.2–17.3), respectively. Non-timed spot urine samples were collected for all cases and 11 (five males and six females) of these were on GnRH-a. Of the 29 cases, matched serum gonadotrophins were available in 15 cases (seven males and eight females). UG were measured by chemiluminescent microparticle immunoassay and corrected for urinary creatinine.
Results: In both pubertal males and females, UG were significantly higher than during-GnRH-a treatment:
For the 15 cases with matched serum and urine samples, median serum LH and ULH:creat were 1.5 U/l (0.1–21.9) and 0.16 (0–1.37), respectively. There was a strong correlation between these values (r2, 0.92), independent of sex.
Conclusion: These preliminary data suggest that UG reflect serum gonadotrophin concentrations and the finding of low UG in patients on GnRH-a therapy suggest that this test may represent a useful non-invasive method of assessing and monitoring effectiveness of GnRH-a therapy.
2012
- Compartment syndrome after viper-bite in toddler:case report and review of literature
[Articolo su rivista]
Pietrangiolillo, Zaira; Frassoldati, Rossella; V., Leonelli; R., Freschi; A., Russomando; Lucaccioni, Laura; Iughetti, Lorenzo
abstract
Snakebites in Italy are a rare source of severe medical condition, except in case of venomous snakes. The venom causes both local and/or systemic complication which may determine death in 6-60hours, particularly in children and the elderly. In fact, the same amount of venom affects children more severely than adults because of the reduced total dilution volume in children. The only specific and conflicting therapy for venomous snakebite is to administer the appropriate anti-venom; the remaining therapy is symptomatic and supportive.We describe the case of a 22 months old child who, despite appropriate symptomatic treatment, developed severe signs and an acute compartment syndrome of the right upper limb, a rare complication of venom snakebite. Administration of antivenom and fasciotomy were needed to resolve the acute episode permitting a positive outcome. On the basis of literature review and our experience we hypothesizean algorithm for the treatment of these patients.
2012
- Ectima gangrenoso in corso di sepsi neonatale da Pseudomonas aeruginosa
[Abstract in Rivista]
Bottosso, Emanuele; Lucaccioni, Laura; C., Cano; B., Mordini; Iughetti, Lorenzo; M. A., Bianchini; P., Repetto
abstract
La sepsi da Pseudomonas aeruginosa (PA) è un evento raro nel neonato a termine, in assenza di fattori predisponenti quali immunodeficienze congenite o acquisite. In età pediatrica può associarsi a discoagulopatia, neutropenia, manifestazioni cutanee (ectima gangrenoso) e otologiche.
2012
- Incidental diagnosis of thoracic ganglioneuroblastoma in a3 years old female with wheezing
[Articolo su rivista]
Lucaccioni, Laura; Bigi, Elena; C., Cano Garcinuno; Paolucci, Paolo; Iughetti, Lorenzo
abstract
Ganglioneuroblastoma (GNB) is a cancer of the peripheral sympathetic nervous system and represents the 30% of cases of Neuroblastoma.When originates from thoracic ganglia it may appear very late, with severe symptoms like respiratory distress or neurological dysfunctions.We present an incidental diagnosis of thoracic GNB, discovered by a chest radiography during a recurrent wheezing unresponsive to bronchodilators. The early diagnosis allowed a precocious treatment probably improving the outcome.
2011
- Endpoints in paediatric oncology.
[Articolo su rivista]
Paolucci, Paolo; Cioni, Vera; Bigi, Elena; Lucaccioni, Laura; Cano, C.
abstract
PURPOSE: The purpose of this review is to address the issue of endpoints in paediatric oncology. Oncologists use this term to refer to an outcome they are trying to measure with a clinical trial, which may become accordingly the object of scientific articles. The outcome measured may concern both efficacy and safety, although from different perspectives.METHODS: Based on both literature and experience developed in clinical trials, the different types of endpoints have been critically analysed in their power to provide the highest information of therapeutic interest (efficacy and safety) with the least risk and discomfort for the individual. Primary, secondary and surrogate endpoints have been distinguished. The most relevant differences have been discussed in comparison with adult oncology settings of endpoints.RESULTS: The rarity of cancer in childhood and adolescence and the objective difficulty of enrolling statistically conceivable numbers of individuals have determined the utmost positive development of large scale, multinational clinical trials. The most interesting consequence is that the impact of multiplicity interferences, which is usually present in virtually all clinical trials developed for adults with cancer, is not a common event in paediatric oncology. Nevertheless, many of the questions concerning the different impact on outcome and survival of clinical trials developed in adult oncology remain unanswered due to the objective limitations still existing in terms of cure compared with paediatric oncology. The powerful consistency of cure rate, as the most relevant endpoint of clinical trials developed in paediatric oncology, addresses additional considerations to support the relevant differences existing between adult and paediatric oncology: both the development of clinical trials with different aims (confirmatory versus primary response) and the limited impact of multiplicity limitations may determine different implications regarding the meaning of endpoints in paediatric and adult oncology.CONCLUSION: The aim of cancer treatment is to improve survival (SUR) and quality of life (QoL), but some restraints on the conduct of clinical trials may make these goals unattainable. Clinical trial endpoints represent a measure method aimed to grant answers to questions addressed by the clinical trial itself. The effect of the new regulation is expected to stimulate high-quality research and provide robust information on paediatric drugs to increase the availability of such drugs to children.
2011
- Quando il glutine colpisce al cuore
[Abstract in Atti di Convegno]
Lucaccioni, Laura; Bussetti, Chiara; Maria Salvini, Anna; Bergonzini, Patrizia; Pancaldi, Elena; Guerra, Azzurra; Iughetti, Lorenzo; Paolucci, Paolo
abstract
.
2011
- Un caso di neurofibromatosi ad esordio molto precoce.
[Abstract in Atti di Convegno]
Bussetti, Chiara; Salvini, Annamaria; Lucaccioni, Laura; P., Bergonzini; A., Guerra; M., Trebbi; Presutti, Livio; Iughetti, Lorenzo; Paolucci, Paolo
abstract
non disponibile
2011
- Uno strano caso di alcalosi metabolica in paziente con acidosi tubulare renale
[Abstract in Atti di Convegno]
Lucaccioni, Laura; Dozza, Alessandra; Cantatore, Sante L.; Rossi, Cecilia; Iughetti, Lorenzo
abstract
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