Publications by authors named "J Massardier"
In France, sickle cell disease newborn screening (SCD NBS) has been targeted to at-risk regions since 1984, but generalization to the whole population will be implemented from November 2024. Although tandem mass spectrometry (MS/MS) is already used for the NBS of several inherited metabolic diseases, its application for SCD NBS has not been widely adopted worldwide. The aim of this study was to evaluate a dedicated MS/MS kit (Targeted MS/MS Hemo, ZenTech, LaCAR Company, Liege, Belgium) for SCD NBS and to compare the results obtained with those from an NBS reference center using matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) and cation-exchange high-performance liquid chromatography (CE-HPLC, Variant NBS, Biorad Laboratories, Inc.
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- * Researchers aimed to determine the role of antibody-dependent cell-mediated cytotoxicity (ADCC) in avelumab's effectiveness and whether variations in the FcγR3A receptor can predict patient responses.
- * Findings confirmed the presence of FcγR3A+ natural killer (NK) cells in PD-L1-expressing GTN, and that avelumab enhances NK cell activity, further suggesting higher affinity FcγR3A variants may
Objective: To assess the frequency of fetal therapy for fetuses with congenital pulmonary malformations (CPMs) and to investigate their short-term outcomes.
Method: The study population included 435 singleton fetuses diagnosed with CPMs from a national population-based cohort study in France in 2015-2018. Information was obtained from medical records on CPM volume ratio (CVR), signs of compression, fetal therapy and perinatal outcomes.
Article Synopsis
- Fontaine progeroid syndrome (FPS) is a newly identified genetic disorder linked to mutations in the SLC25A24 gene, resulting in severe physical abnormalities such as craniosynostosis and growth restrictions.
- The first documented prenatal cases during the second trimester show different phenotypic features, including encephalocele and nephromegaly, while lacking some typical signs of FPS seen after birth.
- The study highlights the importance of genetic testing methods like exome/genome sequencing for diagnosing rare syndromes, suggesting that FPS may involve a novel inheritance pattern.
Article Synopsis
- Congenital microgastria (CM) is a rare birth defect caused by incomplete stomach development during early pregnancy, making prenatal diagnosis difficult.
- Four cases of CM were studied, where ultrasound initially indicated small or absent fetal stomach, often confused with esophageal atresia (EA), but MRI and amniotic fluid analysis helped clarify the diagnosis.
- When a fetal stomach isn't visible on ultrasound and amniotic fluid analysis rules out gastrointestinal issues, fetal MRI can be used to confirm CM by showing a small tubular stomach and dilated esophagus.