A5050085505- Glycogen Storage Diseases and Myoclonus
- COVID-19 and healthcare impacts
- COVID-19 Impact on Reproduction
- Prenatal Screening and Diagnostics
- COVID-19 and Mental Health
- Diet and metabolism studies
- Peripheral Neuropathies and Disorders
- Sexual Differentiation and Disorders
- Mitochondrial Function and Pathology
- Fetal and Pediatric Neurological Disorders
- Cancer Genomics and Diagnostics
- Carbohydrate Chemistry and Synthesis
- DNA Repair Mechanisms
- Inflammasome and immune disorders
- Neonatal and Maternal Infections
- Genetic Neurodegenerative Diseases
- interferon and immune responses
- Salmonella and Campylobacter epidemiology
- Amino Acid Enzymes and Metabolism
- Vibrio bacteria research studies
- Vitamin D Research Studies
- Cancer Risks and Factors
- Genomic variations and chromosomal abnormalities
- Biomedical Research and Pathophysiology
Assistance Publique – Hôpitaux de Paris
2020-2021
Université Paris-Saclay
2020-2021
Hôpital Robert-Debré
2020-2021
Hôpital Antoine-Béclère
2020-2021
Shanghai First Maternity and Infant Hospital
2020
Jiangmen Central Hospital
2020
Université de Lorraine
2017
Centre Hospitalier Régional et Universitaire de Nancy
2017
Abstract SARS-CoV-2 outbreak is the first pandemic of century. infection transmitted through droplets; other transmission routes are hypothesized but not confirmed. So far, it unclear whether and how can be from mother to fetus. We demonstrate transplacental in a neonate born infected last trimester presenting with neurological compromise. The confirmed by comprehensive virological pathological investigations. In detail, causes: (1) maternal viremia, (2) placental demonstrated...
ABSTRACT Vitamin D requires a two-step activation by hydroxylation: The first step is catalyzed hepatic 25-hydroxylase (CYP2R1, 11p15.2) and the second one renal 1α-hydroxylase (CYP27B1, 12q13.1), which produces active hormonal form of 1,25-(OH)2D. Mutations CYP2R1 have been associated with vitamin D–dependent rickets type 1B (VDDR1B), very rare condition that has only reported to affect 4 families date. We describe 7 patients from 2 unrelated who presented homozygous loss-of-function...
Abstract SARS-CoV-2 outbreak has spread and became the first pandemics of century. infection is transmitted through droplets; other transmission routes have been hypothesized but never confirmed. So far, it unclear whether how can be vertically from mother to fetus. We demonstrated for time transplacental in a neonate born infected last trimester. The confirmed by comprehensive virological study: caused neonatal viremia placental inflammation which histological examination...
Childhood-onset autosomal dominant cerebellar ataxia type 7 (SCA7) is a severe disease which leads to premature loss of ambulation and death. Early diagnosis SCA7 major importance for genetic counselling still relies on specific testing, driven by clinical expertise. However, the precise phenotype natural history paediatric has not yet been fully described. Our aims were describe in large multicentric series children all ages, find correlates variables defining this history.We collected...
Aicardi‐Goutières syndrome (AGS) is a rare genetic neuroinflammatory disorder caused by abnormal upregulation of type 1 interferon signalling. Opsoclonus‐myoclonus autoimmune phenotype demonstrating disturbance in the humoral immune response mostly seen context paraneoplastic or postinfectious states, although its pathophysiology incompletely understood. We report first three children described with AGS transient opsoclonus and myoclonus after irritability and/or developmental regression,...
Glycogen Storage Disease Type I (GSDI) is an inherited disease caused by glucose-6 phosphatase (G6Pase) deficiency, leading to a loss of endogenous glucose production and severe hypoglycemia. Moreover, most GSDI patients develop chronic kidney (CKD) due lipid accumulation in the kidney. Similar diabetic CKD, activation renin-angiotensin system (RAS) promotes renal fibrosis GSDI. Here, we investigated physiological molecular effects RAS blockers mice. A retrospective analysis function was...
(Abstracted from Genet Med 2019;21:2293–2302) Noninvasive prenatal screening for aneuploidy using cell-free DNA (cfDNA) has been used since 2011 to identify fetal genetic disorders such as trisomies 13, 18, and 21. However, these tests can give false-positive results or fail all together when other conditions, maternal cancer, are present.