A5047287161- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Intracranial Aneurysms: Treatment and Complications
- Congenital Anomalies and Fetal Surgery
- Congenital gastrointestinal and neural anomalies
- Vascular Malformations Diagnosis and Treatment
- Genomic variations and chromosomal abnormalities
- Intestinal Malrotation and Obstruction Disorders
- Genetic and Kidney Cyst Diseases
- Epigenetics and DNA Methylation
- Renal and related cancers
- Chromatin Remodeling and Cancer
- Immunodeficiency and Autoimmune Disorders
- Genomics and Chromatin Dynamics
- Diverse Legal and Medical Studies
- Esophageal and GI Pathology
- Gastrointestinal disorders and treatments
- Congenital Ear and Nasal Anomalies
- Congenital Diaphragmatic Hernia Studies
- Metabolism and Genetic Disorders
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Nuclear Structure and Function
- Spinal Dysraphism and Malformations
- Microtubule and mitosis dynamics
- Ubiquitin and proteasome pathways
Istituto Giannina Gaslini
2022-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2023
Denver School of Nursing
2021-2022
Triangle
2021-2022
Indianapolis Zoo
2021-2022
Gainesville Obstetrics & Gynecology
2021-2022
Committee on Publication Ethics
2022
University of Genoa
2021-2022
National Center on Birth Defects and Developmental Disabilities
2022
Institute of Public Affairs
2021
Vein of Galen aneurysmal malformation (VGAM) is a rare cerebral vascular associated with significant morbidity and mortality. Newborns VGAM without adequate treatment may develop rapidly deteriorating high output heart failure (HOHF) are at risk for severe neurological outcomes.To describe the clinical course management newborns VGAM, identify which echocardiographic neuroradiologic factors be birth adverse short term outcomes.This single center retrospective cohort study including all...
ABSTRACT Objectives Chiari malformation type 1 (CMI) is defined by the herniation of cerebellar tonsils 5 mm or more, with possible neurological consequences, including compression neural tissue and/or anomalies in cerebral spinal fluid circulation. The etiology CMI not fully elucidated, both genetic and environmental factors being involved. Several genes pathways involved bone development are pointed out like WNT, FGF, BMP signaling pathways. More recently, crucial role played chromatin...
RALA is a small GTPase from the RAS superfamily implicated in signal transduction and cytoskeletal dynamics. Recently, de novo variants have been associated with neurodevelopmental syndrome characterized by intellectual disability (ID), developmental delay (DD), seizures. So far, only < 12 patients reported. In this study, we report two novel impairment epilepsy carrying previously unreported variants. We performed thorough clinical investigation of these brain MRI to detect potential...
Arteriovenous cerebral high-flow shunts include the vein of Galen aneurysmal malformation (VGAM) and dilatation, which are considered secondary to arteriovenous malformations or fistulas. These entities often sporadic but found in association with variants RASA1 EPHB4 genes (capillary malformation-arteriovenous malformation, CMAVM; OMIM #608354) ACVRL1, ENG, SMAD4 (hereditary hemorrhagic telangiectasia, HHT; #187300). The clinical phenotypes associated these conditions highly variable,...
BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily immune nervous systems. germline variants have been associated variety developmental syndromes. However, genotype-phenotype correlations along pathophysiologic mechanisms selected mostly remain elusive. To dissect these, we performed 92 affected individuals harboring pathogenic or likely variant, followed by...
Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by mutations in NF1 gene, coding for neurofibromin 1. can be associated with Moyamoya disease (MMD), and this association, typical of paediatric patients, referred to as syndrome (MMS). MMD cerebral arteriopathy characterized the occlusion intracranial arteries collateral vessel formation, which increase risk ischemic hemorrhagic events. RNF213 gene have been MMD, so we investigated whether rare variants could act genetic...
WOREE syndrome is a rare neurodevelopmental disorder featuring drug-resistant epilepsy and global developmental delay. The disease, caused by biallelic pathogenic variants in the WWOX gene, usually leads to severe disability or death within first years of life. Clinicians have become more confident with phenotypic picture syndrome, allowing earlier clinical diagnosis. We report boy peculiar clinic-radiological pattern supporting diagnosis syndrome.DNA was extracted from blood samples proband...
Rotatin, encoded by the RTTN gene, is a centrosomal protein with multiple, emerging functions, including left-right specification, ciliogenesis, and neuronal migration. Recessive variants in are associated neurodevelopmental disorder microcephaly malformations of cortical development known as “Microcephaly, short stature, polymicrogyria seizures” (MSSP, MIM #614833). Affected individuals show wide spectrum clinical manifestations like intellectual disability, poor/absent speech,...
Abstract Pediatric intestinal pseudo‐obstruction (PIPO) is a rare congenital disorder of the enteric nervous system with distal colon aganglionosis potentially leading to obstruction. Recently, biallelic variants in KIF26A , encoding crucial motor protein for migration and differentiation neural crest cells, have been associated neurodevelopmental condition featuring cortical defects PIPO‐like features, though absence aganglionosis. So far, only 10 patients reported. In this study, we...
PBX1 encodes the pre-B cell leukemia factor 1, a Three Amino acid Loop Extension (TALE) transcription crucial to regulate basic developmental processes. loss-of-function variants have been initially described in association with renal malformations both isolated and syndromic forms.Herein, we report male infant presenting multiple organ (cleidosternal dysostosis, micrognathia, left lung hypoplasia, wide interatrial defect, pulmonary hypertension, total anomalous venous return, intestinal...
Abstract Segmental overgrowth syndromes include a group of clinical entities, all characterized by the abundant proliferation tissues or organs in association with vascular abnormalities. These show wide spectrum severity ranging from limited involvement only small areas body to complex cases impressive distortions multiple and organs. It is now clear that somatic mutations genes phosphoinositide 3‐kinase (PI3K)/protein kinase B (AKT)/mammalian target rapamycin (mTOR) pathway (in brief “mTOR...
Abstract We report two cases of malignant mesothelioma (MM) in childhood brain tumor survivors. A 40-year-old man, who was treated at the age ten with chemotherapy and craniospinal radiotherapy (up to 54.5 Gy) for a pineal secreting non-germinomatous germ cell tumor, had persistent fever, fatigue, weight loss. total body CT scan revealed several pulmonary abdominal wall nodularities. The histological examination on biopsy diagnosed biphasic MM. karyotype array-CGH peripheral blood were...
Currarino syndrome (CS) is a rare genetic condition characterized by the association of three major clinical signs: anorectal malformation (ARM), sacro-coccygeal bone defects, and presacral mass. Different kinds ARM can be present such as anteriorly placed anus, imperforate stenosis, rectal duplication, fistulae. The mass benign teratoma, dermoid or neurenteric cyst, anterior meningocele hamartoma. Females are more frequently affected usually with associated gynecologic urinary tract...