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FABRIZIO FERRARI
Tutor Dipartimento di Ingegneria "Enzo Ferrari"
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Pubblicazioni
2024
- Neurodevelopmental outcome of neonatal seizures: A longitudinal study
[Articolo su rivista]
Lugli, L.; Bariola, M. C.; Guidotti, I.; Pugliese, M.; Roversi, M. F.; Bedetti, L.; Della Casa Muttini, E.; Miselli, F.; Ori, L.; Lucaccioni, L.; Bertoncelli, N.; Rossi, K.; Crestani, S.; Bergonzini, P.; Iughetti, L.; Ferrari, F.; Berardi, A.
abstract
Introduction: Neonatal seizures (NS) are the most common neurological emergency in the neonatal period. The International League Against Epilepsy (ILAE) proposed a new classification of NS based on semiology and highlighted the correlation between semiology and aetiology. However, neurodevelopmental outcomes have not been comprehensively evaluated based on this new classification. Aims: To evaluate neurodevelopmental outcomes and potential risk factors for severe outcomes in NS. Methods: Patients with video electroencephalogram confirmed NS were evaluated. Seizure aetiology, cerebral magnetic resonance imaging (MRI) data, background electroencephalograms data, general movements, and neurodevelopmental outcomes were analysed. Severe outcomes were one of the following: death, cerebral palsy, Griffiths developmental quotient <70, epilepsy, deafness, or blindness. Results: A total of 74 neonates were evaluated: 62 (83.8 %) with acute provoked NS (primarily hypoxic-ischaemic encephalopathy), and 12 (16.2 %) with neonatal-onset epilepsies (self-limited neonatal epilepsy, developmental and epileptic encephalopathy, cerebral malformations). Of these, 32 (43.2 %) had electrographic seizures, while 42 (56.7 %) had electroclinical seizures – 38 (90.5 %) were motor (42.1 % clonic) and 4 (9.5 %) were non-motor phenomena. Severe outcomes occurred in 33 of the 74 (44.6 %) participants. In multivariate analysis, neonatal-onset epilepsies (odds ratio [OR]: 1.3; 95 % confidence interval [CI]: 1.1–1.6), status epilepticus (OR: 5.4; 95 % CI: 1.5–19.9), and abnormal general movements (OR: 3.4; 95 % CI: 1.9–7.6) were associated with severe outcomes. Conclusions: At present, hypoxic-ischaemic encephalopathy remains the most frequent aetiology of NS. The prognosis of neonatal-onset epilepsies was worse than that of acute provoked NS, and status epilepticus was the most predictive factor for adverse outcomes.
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.
2004
- Focal Hyperinsulinism Due to 2 Novel Paternally Derived Mutations in SUR1 and Kir 6.2
[Abstract in Rivista]
Iughetti, Lorenzo; K., Hussain; Predieri, Barbara; S., Cattani; E., Garetti; K., Nanto Salonen; Ferrari, Fabrizio; F., Balli; S., Bernasconi
abstract
Persistent hyperinsulinemic hypoglycaemia of infancy (PHHI) is heterogeneous condition often due to focal adenomatous hyperplasia of the pancreas. Secretion of insulin is unregulated, resulting in profound hypoglycemia. Mutations in the genes of both subunits of the betacell KATP channel, Kir6.2 (potassium channel) and SUR1 (sulfonylurea receptor) have been associated with the autosomal recessive form of this disorder. Patients harboring SUR1 mutations often do not respond well to diazoxide (D). Generally in focal forms two paternal alleles are present with subsequent alteration of insulin secretion. The lesions can be cured by selective resection, but these lesions are difficult to detect. The definitive diagnostic tool are pancreatic venous sampling (PVS) and 18Fluoro L-DOPA>positron emission tomography (PET-DOPA). Patient was born at term (BW 4.1 kg), soon after birth he developed hypoglycemia occasionally symptomatic with tremors and hypotonia, required increased glucose therapy (9mg/kg/min, i.v.) despite milk administration (75cc/kg/day). No response to glucagon (0.5mg/kgday i.v.) and D (20mg/kg/day, per os). Good response to octreotide injections (32.2 microgr/kg/day, s.c.). Pancreatic biopsy, genetic study and PET<ndash>DOPA were performed. Pancreatic biopsy on our patient shows normal <beta><ndash>cell nuclei, no evidence of diffuse disease. Genetics demonstrated he has 2 paternally derived mutations in SUR1 and Kir 6.2, causing abnormal insulin secretion (which type of mutation?). The whole body examination with PET<ndash>DOPA scan demonstrated a very intensive focus in the uppermost area of the corpus of the pancreas.In our patient, as suspected by no response to D, SUR1 mutation was demonstrated. Moreover, like our child, we suggest that all patients with PHHI D resistant should have PET-DOPA that represents a noninvasive method for the identification and localisation of focal PHHI. Focal forms of PHHI should be operated because complete cure without risk of diabetes.