Publications by authors named "S Nizard"
Advanced Systemic Mastocytosis (Adv-SM) is rare and has a poor prognosis. Midostaurin (Rydapt ) is one of the few treatments for Adv-SM in Europe. The study aims were to describe the characteristics of patients treated with midostaurin, their treatment modalities, outcomes, and serious events requiring hospitalization.
View Article and Find Full Text PDFand are two West African medicinal plants traditionally used to treat or alleviate various medical conditions such as skin ailments, respiratory disorders, and digestive problems. Phytochemical analyses indicated the presence of bioactive constituents, including flavonoids and phenolic acids, suggesting that the extracts of these two plants can interfere with reactive oxygen species-induced oxidative stress, inflammation, and microbial growth. This paper reviews the biochemical properties and the antioxidant, anti-inflammatory, and antibacterial activities of these two relevant West African medicinal plants.
View Article and Find Full Text PDFInherited bone marrow failure syndromes (IBMFS) are caused by mutations in genes involved in genomic stability. Although they may be recognized by the association of typical clinical features, variable penetrance and expressivity are common, and clinical diagnosis is often challenging. DNAJC21, which is involved in ribosome biogenesis, was recently linked to bone marrow failure.
View Article and Find Full Text PDFImportance;: Copy number variants (CNVs) classified as pathogenic are identified in 10% to 15% of patients referred for neurodevelopmental disorders. However, their effect sizes on cognitive traits measured as a continuum remain mostly unknown because most of them are too rare to be studied individually using association studies.
Objective: To measure and estimate the effect sizes of recurrent and nonrecurrent CNVs on IQ.
Article Synopsis
- The study investigates the effectiveness of whole-exome sequencing (WES) in diagnosing fetal anomalies, a type of developmental disorder that is not well understood.
- Researchers conducted WES on 101 fetuses or stillborns with severe anomalies and found a molecular diagnosis in 19 cases, many of which were previously unsuspected by clinicians due to atypical presentations.
- The findings reveal new genetic insights, including likely pathogenic variants and novel genes associated with severe conditions, emphasizing both the potential and challenges of using WES for prenatal diagnosis.