A5046206928- Metabolism and Genetic Disorders
- Neonatal and fetal brain pathology
- Folate and B Vitamins Research
- Amino Acid Enzymes and Metabolism
- Epilepsy research and treatment
- Infant Development and Preterm Care
- Retinopathy of Prematurity Studies
- Dental Radiography and Imaging
- Cerebral Palsy and Movement Disorders
- Genetics and Neurodevelopmental Disorders
- Adenosine and Purinergic Signaling
- Radiology practices and education
- Lysosomal Storage Disorders Research
- Myasthenia Gravis and Thymoma
- Pancreatic function and diabetes
- Fetal and Pediatric Neurological Disorders
- Orthodontics and Dentofacial Orthopedics
- Intestinal Malrotation and Obstruction Disorders
- Mitochondrial Function and Pathology
- Neonatal Health and Biochemistry
- Glycogen Storage Diseases and Myoclonus
- Spinal Cord Injury Research
- Neurological Complications and Syndromes
- Biochemical and Molecular Research
- Porphyrin Metabolism and Disorders
Istituti di Ricovero e Cura a Carattere Scientifico
2019-2024
Bambino Gesù Children's Hospital
2018-2024
University of Pavia
2021
Università Cattolica del Sacro Cuore
2015-2019
Sapienza University of Rome
2018
Agostino Gemelli University Polyclinic
2018
Catholic University of America
2011-2015
To describe the outcome of Dravet syndrome (DS) in adolescents and adults we conducted a longitudinal retrospective study two independent cohorts 34 (group 1) 50 2). In both cohorts, collected information about genetic mutation, semiology seizures at onset during disease course. At last evaluation, considered following features: epilepsy (distinguishing myoclonic/complete nonmyoclonic/incomplete phenotype), neurologic signs, intellectual disability (ID), behavioral disorders. Moreover,...
Abstract Cobalamin C (Cbl‐C) defect causes methylmalonic acidemia, homocystinuria, intellectual disability and visual impairment, despite treatment adherence. While international guidelines recommend parenteral hydroxocobalamin (OH‐Cbl) as effective treatment, dose adjustments remain unclear. We assessed OH‐Cbl therapy impact on biochemical, neurocognitive outcomes in early‐onset Cbl‐C patients treated with different doses over 3 years. Group A ( n = 5), diagnosed via newborn screening...
Background: the position of mandibular lingula (Li) affects success rate inferior alveolar nerve block (IANB) and ramus osteotomies. This study evaluated Li, to investigate anatomical relationship between Li some measurements using cone beam computed tomography (CBCT). Methods: 201 hemimandibular CBCTs 111 patients (43 males 68 females; 18 88 years old) were retrospectively evaluated. The location was determined from tip to: occlusal plane, anterior posterior borders ramus, lower border...
Hyperornithinemia–hyperammonemia–homocitrullinuria (HHH) syndrome is a rare disorder of urea cycle characterized by progressive pyramidal and cerebellar dysfunction, whose pathophysiology not yet fully understood. Here we describe the spectrum long fibers involvement in HHH syndrome, attempting correlation between clinical, electrophysiological neuro-radiological data. Nine patients were longitudinally evaluated clinical examination, neurophysiological assessment including motor (MEPs),...
Ethylmalonic encephalopathy (EE) is a severe intoxication-type metabolic disorder with multisystem clinical features and leading to early death. In 2014, based on the promising results obtained by liver-targeted gene therapy in Ethe1
Abstract Background Glycogen storage disease type II (GSDII) or Pompe is a rare autosomal recessive metabolic disorder that leads to intracellular glycogen in many tissues, mainly skeletal muscle, heart and liver. Facial muscle weakness altered craniofacial growth are very common children. In this paper we describe the orofacial features two children affected by GSDII illustrate multidisciplinary approach involved enzyme replace therapy, non-invasive ventilation (NIV) pediatric dentistry...
Background: This systematic review and meta-analysis aims to evaluate the effectiveness of antibiotic prophylaxis in prevention surgical wound infection (SWI) following mandibular third molar extraction. Methods: A search on electronic databases a manual paper journals was carried out. Two independent reviewers selected studies. The onset SWI used as main outcome. data from studies were analyzed, both with fixed random models, according type method administration; further stratification...
The aim of this study was to assess the onset forward parachute reaction (FPR) in infants with brain lesions and its correlation age walking.FPR assessed at 6, 9, 12 months 140 (78 males, 62 females; mean gestational 31 wks; SD 3.6 birthweight 1450 g, 252 g). On cranial ultrasound had mild 78 major abnormalities; 86 developed cerebral palsy. All were followed for 5 years, which each child achieved independent walking recorded. Infants who been born small (weight <10th centile) excluded, as...
It is well known that a better quality of sleep improve seizures control in children; different studies confirmed low dose melatonin treatment reduced the number children with
Biallelic pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause a pleiotropic multisystem disorder. Three clinical subgroups have been defined correlating with the localisation of NBAS gene: affecting C-terminal region result SOPH syndrome (short stature, optic atrophy, Pelger-Huët anomaly), Sec 39 domain are associated infantile liver failure type 2 (ILFS2) and ß-propeller give rise to combined phenotype. However, there is still unexplained phenotypic diversity across three...
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From 3 years onward, he presented relapsing episodes of refractory motor focal status epilepticus, involving the left side or right body, followed by transient epilepsia partialis continua and impairment.
ABSTRACT Introduction Argininosuccinate lyase is integral to the urea cycle, which enables nitrogen waste and biosynthesis of arginine, a precursor nitric oxide. Inherited argininosuccinate deficiency causes argininosuccinic aciduria, second most common cycle defect an inherited model systemic oxide deficiency. Patients present with developmental delay, epilepsy movement disorder. Here we aim characterise epilepsy, neurodebilitating complication in aciduria. Methods We conducted...