A5091779205- Ion channel regulation and function
- Genomics and Rare Diseases
- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Radiation Dose and Imaging
- Radiology practices and education
- Testicular diseases and treatments
- Ultrasound in Clinical Applications
- Diet and metabolism studies
- Congenital limb and hand anomalies
- Ophthalmology and Eye Disorders
- Migraine and Headache Studies
- Metabolism and Genetic Disorders
- Neurological disorders and treatments
- Growth Hormone and Insulin-like Growth Factors
- Central Venous Catheters and Hemodialysis
- Vascular Malformations Diagnosis and Treatment
- Genomic variations and chromosomal abnormalities
- Cellular transport and secretion
- Tuberous Sclerosis Complex Research
- Vitamin D Research Studies
- Neuroscience and Neuropharmacology Research
- Ion Transport and Channel Regulation
- Congenital heart defects research
- Dupuytren's Contracture and Treatments
University of Catania
2020-2025
Ospedale Cannizzaro
2024
Weatherford College
2024
Azienda Ospedaliero-Universitaria Policlinico - Vittorio Emanuele
2021
Ospedali Riuniti Umberto I
2021
Background: The COVID-19 pandemic has dramatically affected the global epidemiology of other infectious respiratory diseases, leading to a significant decrease in their incidence. Hence, we aimed characterize RSV-bronchiolitis children. Methods: children aged ≤2 years diagnosed with RSV-mediated bronchiolitis admitted our Unit from October 2018 December 2021, were retrospectively enrolled. Results: We included 95 patients (M/F = 46/49; mean age 7.56 ± 6.6 months). Specifically, 17 infants...
Polydactyly and syndactyly, which are commonly encountered congenital limb deformities, rarely occur together linked with significant genetic mutations. This report sheds light on a unique co-presentation involving mutations in both the GLI3 TBX5 genes, offering deeper understanding of interactions that may influence development. case is important to increase our knowledge bases malformations. We an 8-month-old boy, born non-consanguineous parents, presenting polydactyly syndactyly his...
Background: Phenylketonuria (PKU) is an autosomal recessive disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, leading to impaired amino acid metabolism. Early diagnosis through newborn screening (NBS) enables prompt treatment, preventing neurological complications. This study aims describe genetic and phenotypic spectrum of PKU mild hyperphenylalaninemia (m-HPA) patients diagnosed at Department Inborn Errors Metabolism Newborn Screening, Hospital G. Rodolico-S. Marco,...
Introduction: Sleep is a fundamental biological function critical for physical and mental health. Chronic sleep disturbances can significantly impair cognitive, emotional, social functioning, leading to deficits in attention, alertness, executive function, alongside increased irritability, anxiety, depression. For pediatric patients, such pose additional concerns, potentially disrupting developmental processes quality of life both children their families. Objectives: Emerging evidence...
Pilomatricoma is a rare benign neoplasm originating from hair cortex cells and typically manifests in children as slow-growing bluish-red, superficial firm mass. Multiple pilomatricomas can be associated with genetic mutations syndromic disorders, most commonly Rubinstein-Taybi syndrome, Gardner myotonic dystrophy, Turner Sotos syndrome. Ultrasound examination allows this tumor to characterized, assess the involvement of deeper structures plan treatment. shows some distinctive...
<title>Abstract</title> Tuberous Sclerosis Complex (TSC) is an autosomal dominant disorder characterized by widespread hamartomas in multiple organs and significant neurological involvement. TSC caused pathogenic variants <italic>TSC1</italic> or <italic>TSC2</italic> genes, leading to hyperactivation of the mTOR pathway consequent dysregulation cell growth. These tumor suppressor genes encode hamartin tuberin, proteins critical for regulating proliferation, neuronal excitability...
Ataxia telangiectasia (AT) is a rare neurodegenerative genetic disorder due to bi-allelic mutations in the Telangiectasia Mutated (ATM) gene. The aim of this paper better define immunological profile over time, clinical immune-related manifestations at diagnosis and during follow-up, attempt genotype-phenotype correlation an Italian cohort AT patients. Retrospective data 69 patients diagnosed between December 1984 November 2019 were collected from database Primary Immunodeficiency Network....
Abstract Background Point-of-care ultrasound (POCUS) is becoming increasingly crucial in the Pediatric Emergency Department for objective patient examination. However, despite its growing interest and wide-ranging applications, POCUS remains relatively unexplored general pediatric training education. Many physicians still find it challenging to comprehend implement. Methods A theoretical-practical course residents was conducted at University of Catania, Italy. The course’s effectiveness...
Background: Vitamin D plays a pivotal role in early childhood development, influencing skeletal strength, neuromuscular coordination, and neurodevelopment. This study aimed to evaluate the impact of different durations supplementation on achieving developmental milestones. Methods: A retrospective was conducted 209 children, divided into two cohorts based duration: six months (n = 102) twelve 107). Developmental milestones were assessed across motor (sitting, walking), fine (object tracking,...
The prevalence of idiopathic oligozoospermia has been esteemed as high 75%. An Italian survey reported bilateral testicular hypotrophy in 14% final-year school students. search for determinants growth childhood is important the primary prevention spermatogenic failure. Therefore, this retrospective study aimed to evaluate and pubertal onset deficient children treated recombinant human hormone (rhGH). To accomplish this, clinical charts 93 patients with GH deficiency (GHD) were carefully...
The 8p inverted duplication/deletion is a rare chromosomal rearrangement clinically featuring neurodevelopmental delay, mild to severe cognitive impairment, heart congenital defects and brain abnormalities. Patients affected also present typical facial dysmorphisms skeletal malformations, it thought that the composite clinical picture may fall into architecture. With major aim of better framing its related diagnostic paths, we describe patient carrying de novo invdupde[8p] whose features...
Abstract Background: Point-of-care ultrasound (POCUS) is becoming increasingly crucial in the Pediatric Emergency Department for objective patient examination. However, despite its growing interest and wide-ranging applications, POCUS remains relatively unexplored general pediatric training education. Many physicians still find it challenging to comprehend implement. Methods: a theoretical-practical course residents was conducted at University of Catania, Italy. The course's effectiveness...
Background: Cystic Fibrosis (CF), is the most common, life-limiting, single-gene disease affecting Caucasian population, with a reported incidence of1/3500 births. It inherited in an autosomal recessive fashion and its diagnosis notably challenging, since several cases CF may not be detected by newborn screening test sweat test, which are frequently negative of doubtful results, especially atypical symptoms at onset or uncommon mutations polymorphisms. Case Presentation: In this case, we...
Abstract Polymicrogyria, cobblestone malformations, and tubulinopathies constitute a group of neuronal migration abnormalities beyond the pial limiting membrane. Their etiopathogenesis remains unclear, with proposed environmental genetic factors, including copy number variations single-gene disorders, recently categorized. Polymicrogyria features numerous small circumvolutions separated by large, shallow grooves, often affecting perisylvian cortex various presentations. Clinical...
Abstract Calcium (Ca2+) channel gene mutations play an important role in the pathogenesis of neurological episodic disorders like epilepsy. CACNA1A and CACNA1H genes are involved synthesis calcium channels. Mutations α1A subunit P/Q type voltage-gated (CACNA1A) located 19p13.13, which encodes for transmembrane pore-forming CAV2.1 voltage-dependent channel, have been correlated to a large clinical spectrum epilepsy such as idiopathic genetic epilepsy, early infantile febrile seizures....
Although rare, ischemic lesions in neonates may occur Neonatal Intensive Care Units (NICUs) secondary to routine procedures and/or medicaments. We present double-center case series, reporting three preterm with following cardiac arrest and radial blood sampling. The overall outcome after treatment 2% nitroglycerine (NTG) ointment showed optimal results no adverse events. most frequent causes responsible for the onset of such are peripheral arterial catheterization dopamine extravasation. Our...
Abstract One of the first reported genes associated with epilepsy was SCN1B, which encodes for β-subunit voltage-gated sodium channel excitable cells and it is critical neuronal function in both central peripheral nervous system. β-subunits modulate expression levels functional properties channels though their immunoglobulin domains may mediate interactions between other proteins. Traditionally, SCN1B mutations were generalized febrile seizures plus, a familial syndrome characterized by...
Abstract Epilepsy is one of the most common neurological disorders, with a lifetime incidence 1 in 26. Approximately two-thirds epilepsy has substantial genetic component its etiology. As result, simultaneous screening for mutations multiple genes and performing whole exome sequencing (WES) are becoming very frequent clinical evaluation children epilepsy. In this setting, voltage-gated sodium channel (SCN) α-subunit commonly identified cause epilepsy, (i.e., SCN1A, SCN2A, SCN8A) being...
Abstract Gamma-aminobutyric acid type A (GABA-A) receptor subunit gene mutations, which include GABRA1, GABRB3, GABRD, and GABRG2, are often involved in several genetic epilepsy syndromes other neuropsychiatric diseases like autism spectrum disorder, schizophrenia, anxiety. GABA-A ligand-gated ionic channels, firstly the fast inhibitory synaptic transmission of central nervous system. The GABA receptors ionotropic GABA-C metabotropic GABA-B receptors. According to site mutations occur, they...
Different temporizing neurosurgical procedures are available for the management of posthemorrhagic hydrocephalus in preterm newborns.To evaluate short efficacy external ventricular drains (EVDs) and ventriculosubgaleal (VSG) shunt.This is a Strengthening Reporting Observational Studies Epidemiology-conformed retrospective cohort study. The inclusion criteria were (1) gestational age <37 weeks, (2) birth weight <1500 g, (3) because intraventricular hemorrhage grade II/III, (4) EVD or VSG...