A5018432013- Vascular Malformations and Hemangiomas
- Vascular Malformations Diagnosis and Treatment
- COVID-19 Clinical Research Studies
- Tumors and Oncological Cases
- Neurofibromatosis and Schwannoma Cases
- Hedgehog Signaling Pathway Studies
- Long-Term Effects of COVID-19
- Homicide, Infanticide, and Child Abuse
- Vitamin D Research Studies
- Metabolism, Diabetes, and Cancer
- Central Venous Catheters and Hemodialysis
- Oral and gingival health research
- COVID-19 and Mental Health
- Genetic and rare skin diseases.
- COVID-19 epidemiological studies
- Soft tissue tumor case studies
- Neuroendocrine regulation and behavior
- Congenital gastrointestinal and neural anomalies
- Maternal and Perinatal Health Interventions
- Intracranial Aneurysms: Treatment and Complications
- Hypothalamic control of reproductive hormones
- Ectopic Pregnancy Diagnosis and Management
- Islanding Detection in Power Systems
- Adipokines, Inflammation, and Metabolic Diseases
- Ear and Head Tumors
Inserm
2015-2024
Université Paris Cité
2024
Hôpital Femme Mère Enfant
2019-2024
Centre National de la Recherche Scientifique
2022-2024
Institut Necker Enfants Malades
2021-2024
Hôpital Nord
2019-2024
Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé
2022-2024
Hospices Civils de Lyon
2021-2024
Université Claude Bernard Lyon 1
2019-2023
Centre Hospitalier Universitaire de Saint-Étienne
2019-2023
Alplesib exerts therapeutic effects in a mouse model of lymphatic anomalies and six patients with malformations over 6 months’ treatment.
PIK3CA-related overgrowth spectrum (PROS) includes rare genetic conditions due to gain-of-function mutations in the PIK3CA gene. There is no approved medical therapy for patients with PROS, and alpelisib, an inhibitor oncology, showed promising results preclinical models patients. Here, we report first time outcome of two infants PROS having life-threatening treated alpelisib (25 mg) monitored pharmacokinetics. Patient 1 was 8-mo-old girl voluminous vascular malformation. 2 a 9-mo-old boy...
gain-of-function mutations are frequently observed in sporadic arteriovenous malformations. The mechanisms underlying the progression of such
The cellular mechanisms governing the impact of central circadian clock on neuronal networks are incompletely understood. We examine here influence suprachiasmatic nucleus output neuropeptide arginine-vasopressin (AVP) activity preoptic area kisspeptin neurons. These cells integrate and hormonal signals within network that regulates fertility in females. Electrophysiological recordings brain slices from kisspeptin-GFP mice showed AVP dose-dependently increased firing rate most actions were...
Sporadic venous malformations are genetic conditions primarily caused by somatic gain-of-function mutation of PIK3CA or TEK, an endothelial transmembrane receptor signaling through PIK3CA. Venous associated with pain, bleedings, thrombosis, pulmonary embolism, esthetic deformities and, in severe cases, life-threatening situations. No authorized medical treatment exists for patients malformations. Here, we created a mouse model PIK3CA-related capillary that replicates patient phenotypes. We...
PIK3CA-related overgrowth syndrome (PROS) is a genetic disorder caused by somatic mosaic gain-of-function mutations of PIK3CA. Clinical presentation patients diverse and associated with endocrine disruption. Adipose tissue frequently involved, but its role in disease development progression has not been elucidated. Here, we created mouse model adipose that recapitulates patient phenotype. We demonstrate PIK3CA mutation leads to GLUT4 membrane accumulation negative feedback loop on insulin...
Abstract Mutations in PIK3R1 have recently been identified patients with overgrowth syndromes and complex vascular malformations. encodes p85α which acts as the regulatory subunit of lipid kinase PI3Kα. mutations result excessive activation AKT/mTOR pathway. Currently, there are no approved treatments specifically dedicated to mutations, medical care primarily focuses on managing symptoms. In this study, we three patients, including two children, who had mosaic somatic affecting iSH2 domain,...
Metabolic and bone effects were investigated in growing (G, n = 45) mature (M, rats fed a high-fat/high-sucrose diet (HFS) isocaloric to the chow of controls (C, 30 per group). At week 19, subset 15 each group (HFS or C, at both ages) was analyzed. Then one-half remaining HFS groups continued shifted C until 27. Although no serum marrow inflammation seen, increased visceral fat, leptin insulin 19 induced further alterations lipid profile, adiponectin, TGFβ1, TIMP1, MMP2, MMP9, suggesting...
Hemifacial myohyperplasia (HFMH) is a rare cause of facial asymmetry exclusively involving muscles. The underlying and the mechanism disease progression are unknown. Here, we identified somatic gain-of-function mutation PIK3CA in five pediatric patients with HFMH. To understand physiopathology muscle hypertrophy this context, created mouse model carrying specifically skeletal led to striated cell hypertrophy, mitochondria dysfunction, hypoglycemia low circulating insulin levels. Alpelisib...
Objective: Describe the “patient experience” regarding care provided during surgical management of a loss pregnancy in first trimester and identify factors influencing this experience. Design: Analytical observational prospective study. Setting: Two main, academic, maternity wards Lyon, France, carrying out 8,500 deliveries per year. Population: Adult female patients, speaking French, having undergone curettage for from 24 December 2020 to 13 June 2021. Methods: The was assessed using 15...