A5083667497- Prenatal Screening and Diagnostics
- Hedgehog Signaling Pathway Studies
- Diet and metabolism studies
- Fetal and Pediatric Neurological Disorders
- Genetic and Kidney Cyst Diseases
- Ocular Disorders and Treatments
- Genetic Syndromes and Imprinting
- Genomic variations and chromosomal abnormalities
- Pregnancy and preeclampsia studies
- Birth, Development, and Health
- RNA Research and Splicing
- Congenital Anomalies and Fetal Surgery
- Connective tissue disorders research
- Congenital Ear and Nasal Anomalies
- Renal and related cancers
- Multiculturalism, Politics, Migration, Gender
- Alcoholism and Thiamine Deficiency
- Tryptophan and brain disorders
- Metabolism and Genetic Disorders
- Parvovirus B19 Infection Studies
- Herpesvirus Infections and Treatments
- Reconstructive Facial Surgery Techniques
- Renin-Angiotensin System Studies
- Craniofacial Disorders and Treatments
- interferon and immune responses
Université de Bourgogne
2015-2022
CHU Dijon Bourgogne
2005-2020
Maison des Sciences de l’Homme de Dijon
2003-2016
Agroécologie
2012
Génétique Médicale & Génomique Fonctionelle
2006
Hôpital d'Enfants
2006
Accenture (Switzerland)
2006
Inserm
2001
Hôpital Ambroise-Paré
2001
Hôpital Robert-Debré
2001
Restrictive dermopathy (RD), also called tight skin contracture syndrome (OMIM 275210), is a rare disorder mainly characterized by intrauterine growth retardation, and rigid with erosions, prominent superficial vasculature epidermal hyperkeratosis, facial features (small mouth, small pinched nose micrognathia), sparse/absent eyelashes eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures an early neonatal lethal course....
Cobblestone lissencephaly represents a peculiar brain malformation with characteristic radiological anomalies, defined as cortical dysplasia combined dysmyelination, dysplastic cerebellum cysts and brainstem hypoplasia. Cortical results from neuroglial overmigration into the arachnoid space, forming an extracortical layer, responsible for agyria and/or 'cobblestone' surface ventricular enlargement. The underlying mechanism is disruption of glia limitans, outermost layer brain. pathognomonic...
Renal tubular dysgenesis is a clinical disorder that observed in fetuses and characterized by the absence or poor development of proximal tubules, early onset persistent oligohydramnios leads to Potter sequence, skull ossification defects. It may be acquired during fetal inherited as an autosomal recessive disease. was shown recently renal genetically heterogeneous linked mutations genes encode components renin-angiotensin system. This study analyzed expression disease 29 fetus/neonates from...
Problem To evaluate the inflammatory pattern in maternal circulation from women with preterm premature rupture of membranes ( PPROM ) considering occurrence histologically confirmed chorioamnionitis HCA ). Method study A prospective was conducted 121 between 24 and 34 + 0 weeks gestation. Association white blood cells WBC count, plasma CRP , IL ‐6, MCP ‐1 IP ‐10 levels, assessed. Results The rate 44.7% (54/121). During 5 days preceding delivery, median ‐6 levels were significantly higher...
Schizoaffective disorder is a severe psychiatric condition characterized by mood disturbances and psychotic symptoms. Standard treatments, primarily pharmacological, often fail to control symptoms fully can lead significant metabolic side effects. Emerging evidence suggests that ketogenic therapy (KMT), also known as the diet, may offer powerful alternative conventional treatments for components resolve in patients with schizoaffective disorder. This case series investigates effects of KMT...
There is limited evidence describing the use of ketogenic metabolic therapy (KMT), also known as a diet (KD), to achieve full remission treatment-resistant major depressive disorder (MDD) in real-world clinical settings. This case study examines 47-year-old woman with lifelong MDD who achieved complete symptoms and improved functioning through diet. The patient engaged KMT 1.5:1 macronutrient ratio under supervision treatment team consisting medical professional, psychotherapist,...
Major Depressive Disorder (MDD) is a prevalent mood disorder characterized by persistent low and anhedonia, significantly impacting cognitive function daily living. Despite available pharmacological treatments, nearly one-third of individuals with MDD do not achieve adequate symptom relief conventional treatments. The ketogenic diet (KD), high-fat, low-carbohydrate that induces ketosis, has emerged as potential non-pharmacological intervention for MDD. To provide comprehensive perspective on...
Type II lissencephaly (type LIS) is a group of autosomal recessive congenital muscular dystrophies (CMD) associated with defects in α-DG O-glycosylation, which comprises Walker-Warburg syndrome, Fukuyama cerebral and dystrophy, or muscle-eye-brain disease. The most severe forms these diseases often have fetal presentation lead to pregnancy termination. We report here the first molecular study on type LIS series 47 fetuses from 41 unrelated families. Sequencing different genes known be...
<h3>Background</h3> CHARGE syndrome is a rare, usually sporadic disorder of multiple congenital anomalies ascribed to <i>CHD7</i> gene mutation in 60% cases. Although the well characterised children, only one series 10 fetuses with has been reported date. Therefore, we performed detailed clinicopathological survey our mutations, now extended 40 increasingly diagnosed antenatally, but remains challenging many instances. <h3>Method</h3> Here report retrospective study cases mutation, including...
This retrospective case study assessed Ketogenic Metabolic Therapy’s (KMT) efficacy in a bipolar disorder patient with treatment-resistant depressive symptoms insufficiently controlled by weekly ketamine treatments. Monitoring included relevant biomarkers of ketone production and macronutrient levels, alongside mood evaluations through the Generalized Anxiety Disorder-7 (GAD-7), Depression Stress Scales (DASS), PTSD Checklist for DSM-5 (PCL-5), showing stabilization improved functionality....
<h3>Background</h3> Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation. Recently, we identified mutations in <i>KIF7</i>, key component Sonic hedgehog pathway, as being responsible for this syndrome. <h3>Methods</h3> We sequenced <i>KIF7</i> five suspected ACLS cases, one fetus four patients, based on facial dysmorphism...
Molecular diagnosis based on singleton exome sequencing (sES) is particularly challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some studies reveal a diagnostic yield of about 20%, far lower than live birth individuals showing developmental (30%), suggesting that standard analyses, the correlation between clinical hallmarks described postnatal syndromic presentations and genotype, may underestimate impact genetic variants identified fetal analyses. We performed sES...
This perspective article delves into the implementation of Ketogenic Metabolic Therapy (KMT) by a mental health counselor who attempts to bridge gap between emerging research and real-world clinical application. Grounded in author’s experiences, communicates potential KMT care, highlighting both its therapeutic promise insights gained from hands-on patient interactions. While adoption necessitates adjustments societal, emotional, dietary domains, especially within diverse contexts, these...
Background Segmentation defects of the vertebrae (SDV) are non-specific features found in various syndromes. The molecular bases SDV not fully elucidated due to wide range phenotypes and classification issues. genes involved Notch signalling pathway, which is a key system somitogenesis. Here we report on mutations identified diagnosis cohort SDV. We focused spondylocostal dysostosis (SCD) phenotype these patients order establish diagnostic strategy when confronted with Patients methods used...
Conradi-Hünermann-Happle [X-linked dominant chondrodysplasia punctata 2 (CDPX2)] syndrome is a rare X-linked skeletal dysplasia usually lethal in men while affected women show wide clinical heterogeneity. Different EBP mutations have been reported. Severe female cases rarely reported, with only six antenatal presentations.To better characterize the phenotype fetuses, we included nine antenatally diagnosed of mutations. All were de novo except for two fetuses an mother and one case germinal...