A5103284503- Genetic Syndromes and Imprinting
- Epigenetics and DNA Methylation
- Prenatal Screening and Diagnostics
- Birth, Development, and Health
- Pregnancy and preeclampsia studies
- Gestational Diabetes Research and Management
- Genetics and Neurodevelopmental Disorders
- Hedgehog Signaling Pathway Studies
- Sexual Differentiation and Disorders
- Hallucinations in medical conditions
- Immunodeficiency and Autoimmune Disorders
- Testicular diseases and treatments
- Respiratory viral infections research
- Autism Spectrum Disorder Research
- Parvovirus B19 Infection Studies
- Genomics and Rare Diseases
- Respiratory Support and Mechanisms
- Tumors and Oncological Cases
- Family and Disability Support Research
- Infant Nutrition and Health
- Ethics and Legal Issues in Pediatric Healthcare
- Complementary and Alternative Medicine Studies
- Cytomegalovirus and herpesvirus research
- Viral gastroenteritis research and epidemiology
- Breastfeeding Practices and Influences
Hôpital Armand-Trousseau
2016-2024
Centre de Recherche Saint-Antoine
2018-2024
Assistance Publique – Hôpitaux de Paris
2018-2024
Sorbonne Université
2016-2024
Inserm
2018-2024
Sorbonne Paris Cité
2022
Hôpital Paul-Brousse
1997
Université Paris-Saclay
1997
Introduction With advances in surgical and neonatal care, the survival of patients with oesophageal atresia (OA) has improved over time. Whereas a number OA-related conditions (delayed primary anastomosis, anastomotic stricture dysmotility) may have an impact on feeding development although children OA experience several oral aversive events, paediatric disorders (PFD) remain poorly described this population. The aim our study was to describe PFD born OA, using standardised scale. secondary...
Abstract Parental imprinting is an epigenetic process leading to monoallelic expression of certain genes depending on their parental origin. Imprinting diseases are characterized by growth and metabolic issues starting from birth adulthood. They mainly due methylation defects in control region that drive the abnormal imprinted genes. We currently lack relevant animal or cellular models unravel pathophysiology failure these diseases. aimed characterize regions dental pulp stem cells during...
Background A diagnosis of Silver–Russell syndrome (SRS), a rare imprinting disorder responsible for foetal growth restriction, is considered patients presenting at least four criteria the Netchine-Harbison clinical scoring system (NH-CSS). Certain items NH-CSS are not assessable until age 2 years. The objective was to determine perinatal characteristics children with SRS allow an early diagnosis. Methods We retrospectively compared ( n = 17) those newborns small gestational (SGA) due...
Detecting SGA (small for gestational age) during pregnancy improves the fetal and neonatal prognosis. To date, there is no valid antenatal biomarker of used in clinical practice. Maternal circulating DLK1 (delta-like non-canonical notch ligand 1) levels have been shown to be significantly lower pregnant women at 36 weeks gestation (WG) who delivered a newborn than controls. Data literature are contradictory on association between maternal placental vascular dysfunction. The objective was...
Abstract Background Parental imprinting is an epigenetic mechanism that leads to monoallelic expression of a subset genes depending on their parental origin. Imprinting disorders (IDs), caused by disturbances imprinted genes, are set rare congenital diseases mainly affect growth, metabolism and development. To date, there no accurate model study the physiopathology IDs or test therapeutic strategies. Human induced pluripotent stem cells (iPSCs) promising cellular approach human complex...
Cet article développe les enjeux de la consultation génétique en néonatalogie. Environ 3 % des enfants naissent avec une malformation congénitale, ou un symptôme pouvant révéler maladie génétique. Un avis peut être demandé maternité néonatalogie, dans le but poser diagnostic étiologique, pour affiner pronostic et, parfois, orienter prise charge. Après l’évocation situations lesquelles sollicité, est décrite. Au terme cette consultation, analyses génétiques peuvent demandées. La question...
Background: Scrotoschisis is a congenital malformation characterized by testicular exstrophy through scrotal defect.Case report: We report full-term baby boy with exteriorization of both testes right parietal defect.Discussion: Bilateral extrusion lateralized scrotoschisis can occur due to septal defect.