A5028482022- Genetics and Neurodevelopmental Disorders
- Genetic Syndromes and Imprinting
- Genomics and Rare Diseases
- Peptidase Inhibition and Analysis
- Autism Spectrum Disorder Research
- Congenital heart defects research
- COVID-19 Clinical Research Studies
- Wnt/β-catenin signaling in development and cancer
- COVID-19 and healthcare impacts
- Mitochondrial Function and Pathology
- Prenatal Screening and Diagnostics
- Dermatological and Skeletal Disorders
- Histiocytic Disorders and Treatments
- Emergency and Acute Care Studies
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Lipoproteins and Cardiovascular Health
- Galectins and Cancer Biology
- Cellular transport and secretion
- Vitamin C and Antioxidants Research
- Receptor Mechanisms and Signaling
- Corneal Surgery and Treatments
- Respiratory viral infections research
- Cancer, Lipids, and Metabolism
- RNA regulation and disease
- Metabolism and Genetic Disorders
Bambino Gesù Children's Hospital
2022-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2022-2024
University of Rome Tor Vergata
2020-2023
Desmosterolosis is a rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, severe developmental delay, progressive epileptic encephalopathy, and elevated levels of desmosterol caused biallelic mutations DHCR24 encoding 3-β-hydroxysterol Δ-24-reductase. regarded as the key enzyme cholesterol synthesis in metabolism brain it catalyzes reduction Δ-24 double bond intermediates during biosynthesis. To date, 15 variants, detected 2 related 14...
Abstract Background Malan syndrome (MALNS) is a recently described ultrarare lacking guidelines for diagnosis, management and monitoring of evolutive complications. Less than 90 patients are reported in the literature limited clinical information available to assure proper health surveillance. Results A multidisciplinary team with high expertise MALNS has been launched at “Ospedale Pediatrico Bambino Gesù”, Rome, Italy. Sixteen Italian individuals molecular confirmed diagnosis were enrolled...
We aimed to describe the limitations of familiar hypercholesterolemia (FH) diagnosis in childhood based on presence typical features FH, such as physical sings cholesterol accumulation and personal or family history premature cardiovascular disease hypercholesterolemia, comparing their prevalence adult paediatric FH population, illustrate how additional information can lead a more effective at younger age.From Italian LIPIGEN cohort, we selected 1188 (≥18 years) 708 (<18...
Malan Syndrome (MS) is an ultra-rare overgrowth genetic syndrome due to heterozygous variants or deletions in the Nuclear Factor I X (NFIX) gene. It characterized by unusual facial phenotype, generalized overgrowth, intellectual disability (ID) and behavioral problems. Even though limitations cognitive adaptive functioning have been previously described, systematic studies on MS cohorts are still lacking. Here, we aim define behavior profile of children adolescents, providing quantitative...
Introduction Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in NALCN gene (MIM#611549) resulting loss-of-function effect. Methods We enrolled new IHPRF1 patients’ cohort the framework of an international multicentric collaboration study. Using specialized silico pathogenicity predictors ad hoc structural analyses, we...
Malan syndrome (MALNS) is an ultra-rare genetic disorder caused by heterozygous chromosomal microdeletions involving the 19p13.2 region or loss-of-function variants in NFIX gene. It characterized specific phenotypical features, intellectual disability (ID), and limitations adaptive functioning behavioral problems. In a previous work, we defined cognitive, adaptive, linguistic visuomotor ability profiles group of 15 MALNS individuals, providing quantitative data from standardized evaluations....
This study aimed to widen the knowledge of a recently identified, autosomal-recessive, multiple congenital anomalies syndrome date observed in only other three children. is second report biallelic mutations MAPKAPK5 whose impairment during human development has been associated with neurological, cardiac, and facial combined fingers toes malformations. Through affected patients' genetic phenotypic features overlap, this confirms as causative gene adds unique neurodevelopmental...
Abstract Background Numerous studies described the epidemiological link and main clinical features of pediatric COVID-19, during first pandemic period. Our study encompasses several different phases since National Lockdown in Italy. The primary outcome is (I) to analyze prevalence positive NST (Nasopharyngeal Swab Test) among largest Italian Pediatric cohort admitted a single regional PED Hub for COVID-19 an eight-month Secondary outcomes are: (II) description trend admissions our (III)...
Abstract Pitt–Hopkins syndrome (PTHS, MIM #610954) is a rare neurodevelopmental disease characterized by the association of intellectual disability, characteristic facial gestalt and episodes abnormal irregular breathing. PTHS due to heterozygous loss‐of‐function variants in TCF4 gene (transcription factor 4, #602272) encoding for basic helix–loop–helix transcription factor. highly expressed during early development nervous system, it involved cellular differentiation proliferation. Since...
Abstract Background Ligneous Conjunctivitis (LC) is the most common clinical manifestation of Type I Plasminogen deficiency (T1PD; OMIM# 217090), and it characterized by formation pseudomembranes (due to deposition fibrin) on conjunctivae leading progressive vision loss. In past times, patients with LC were treated surgery, topical anti-inflammatory, cytostatic agents, systemic immunosuppressive drugs limited results (Blood 108:3021-3026, 2006, Ophthalmology 129:955-957, 2022, Surv...
GENERAL COMMENTARY article Front. Genet., 22 December 2023Sec. Genetics of Common and Rare Diseases Volume 14 - 2023 | https://doi.org/10.3389/fgene.2023.1255807
Background: Numerous studies described the epidemiological link and main clinical features of pediatric COVID-19, during first pandemic period, while this is study that encompass several different phases National Lockdown in a European country. We effects Containment Measures on positive NST (Nasopharyngeal Swab Test) trend, links largest Italian Pediatric cohort admitted to single regional Emergency Department Hub for an eight-month period.Methods: 316 patients with SARS-CoV2, total 5001...