A5068521000- Thyroid Disorders and Treatments
- Growth Hormone and Insulin-like Growth Factors
- Thyroid Cancer Diagnosis and Treatment
- Metabolomics and Mass Spectrometry Studies
- Neonatal Health and Biochemistry
- Cell Image Analysis Techniques
- Metabolism and Genetic Disorders
- Amino Acid Enzymes and Metabolism
- Diet and metabolism studies
- Vitamin K Research Studies
- Cardiovascular Function and Risk Factors
- Neuroendocrine regulation and behavior
- Blood disorders and treatments
- RNA modifications and cancer
- Vascular Anomalies and Treatments
- Machine Learning in Bioinformatics
- Otitis Media and Relapsing Polychondritis
- Epigenetics and DNA Methylation
- Cardiac Imaging and Diagnostics
- Hearing, Cochlea, Tinnitus, Genetics
- Stress Responses and Cortisol
- Heme Oxygenase-1 and Carbon Monoxide
- Forensic Toxicology and Drug Analysis
- Poisoning and overdose treatments
- Intensive Care Unit Cognitive Disorders
Centre Hospitalier Universitaire d'Angers
2016-2024
Inserm
2019-2023
Université d'Angers
2019-2023
Centre National de la Recherche Scientifique
2019-2023
VEXAS syndrome is a newly described autoinflammatory disease associated with
Serum protein electrophoresis (SPE) is a common clinical laboratory test, mainly indicated for the diagnosis and follow-up of monoclonal gammopathies. A time-consuming potentially subjective human expertise required SPE analysis to detect possible pitfalls provide clinically relevant interpretation.An expert-annotated dataset 159 969 entries was used develop SPECTR (serum computer-assisted recognition), deep learning-based artificial intelligence, which analyzes interprets raw curves...
Intrauterine Growth Restriction (IUGR) affects 8% of newborns and increases morbidity mortality for the offspring even during later stages life. Single omics studies have evidenced epigenetic, genetic, metabolic alterations in IUGR, but pathogenic mechanisms as a whole are not being fully understood. An in-depth strategy combining methylomics transcriptomics analyses was performed on 36 placenta samples case-control study. Data-mining algorithms were used to combine analysis more than 1,200...
Resistance to thyroid hormone (RTH) is a syndrome characterized by impaired sensitivity of tissues (TH). The alteration TH-binding proteins, such as in Familial Dysalbuminemic Hyperthyroxinemia (FDH), can mimic the abnormal serum tests typical RTH. We aimed characterize population referred our center with suspected RTH and estimate proportion patients FDH. For 303 different families, we collected clinical hormonal data sequenced receptor β gene (THRB) exon 7 albumin (ALB). found 56 THRB...
Despite improvements in therapeutic strategies for treating breast cancers, tumor relapse and chemoresistance remain major issues patient outcomes. Indeed, cancer cells display a metabolic plasticity allowing quick adaptation to the tumoral microenvironment cellular stresses induced by chemotherapy. Recently, long non-coding RNA molecules (lncRNAs) have emerged as important regulators of orientation. In present study, we addressed role molecule (lncRNA) SAMMSON on reprogramming MCF-7...
The postmortem diagnosis of hypothermia fatalities is often complex due to the absence pathognomonic lesions and biomarkers. In this study, potential novel biomarkers were searched in vitreous humor known cases (n = 20) compared control 16), using a targeted metabolomics approach allowing quantitative detection 188 metabolites. A robust discriminant model with good predictivity was obtained supervised OPLS-DA multivariate analysis, showing distinct separation between groups. This signature...
Resistance to thyroid hormone β syndrome (RTHβ) is caused by pathogenic variants in the THRB gene, but such are found only 85% of cases. We report case a patient with RTHβ phenotype for whom we variant gene mosaic state.The 52-year-old woman clinical and biological signs RTHβ. Symptoms included asthenia, cardiac palpitations, diarrhea. Repeated function tests showed an elevated serum TSH, free T4, variably normal or slightly fT3. Pituitary magnetic resonance imaging was normal,...
Thirty percent of medullary thyroid carcinomas (MTCs) are related to dominant germline pathogenic variants in the RET proto-oncogene. According their aggressiveness, these classified three risk levels: 'moderate', 'high' and 'highest'. The present study compares metabolomics profiles five variants, whether already or not. We have generated six stable murine fibroblast cell lines (NIH3T3) expressing WT allele human gene, with different levels pathogenicity, including M918V variant that is yet...
Abstract Introduction Several studies have provided evidence of the key role neutrophils in pathophysiology Alzheimer's disease (AD). Yet, no study to date has investigated potential link between AD and morphologically abnormal on blood smears. Methods Due complexity subjectivity task by human analysis, deep learning models were trained predict from neutrophil images. Control for a known feasible (leukocyte subtype classification) detecting biases overfitting (patient prediction). Results...
Congenital hypothyroidism with gland-in-situ (CH-GIS) is usually attributed to mutations in the genes involved thyroid hormone production. The diagnostic yield of targeted next-generation sequencing (NGS) varied widely between studies. We hypothesized that molecular NGS would depend on severity CH.Targeted was performed 103 CH-GIS patients from French national screening program referred Reference Center for Rare Thyroid Diseases Angers University Hospital. custom panel contained 48 genes....
Background: Intrauterine Growth Restriction (IUGR) affects 8% of newborns and increases morbidity mortality for the offspring even during later stages life. Omics studies have evidenced epigenetic, gene expression metabolic alterations in IUGR, but pathogenic mechanisms as a whole are not being fully understood integrated together. An in-depth strategy combining multi-omics integration could help to better understand these processes. Methods: Methylomics transcriptomics analyses were...
Abstract Background Immunoglobulin replacement therapy is recommended in case of severe hypogammaglobulinemia after allogeneic hematopoietic stem cell transplantation (allo‐HSCT). However, the supposed increased risk infection has not been confirmed allo‐HSCT. In this study, we assessed relationship between gamma globulin level and during 100 days following Methods We gathered weekly laboratory tests from day 7 to 76 allograft patients, giving a total 1 044 tests. 130 infections were...
Argininosuccinate lyase deficiency (ASLD, MIM #207900) is an inherited urea cycle disorder. There are mainly two clinical forms, acute neonatal form which manifests as life-threatening hyperammonemia, and a late-onset characterised by polymorphic neuro-cognitive or psychiatric presentation with transient hyperammonemia episodes. Here, we report case of ASLD in 72-year-old man carrying homozygous pathogenic variant the exon 16 ASL gene, presenting for first time fatal hyperammonemic coma....
The importance of sexual dimorphism the mouse brain metabolome was recently highlighted, in addition to a high regional specificity found between frontal cortex, cerebellum, and stem. To address origin this dimorphism, we performed gonadectomy on both sexes, followed by metabolomic study targeting 188 metabolites three regions. While sham controls, which underwent same surgical procedure without gonadectomy, reproduced previously identified, no sex difference identifiable after through...