Publications by authors named "N Bourgon"
Article Synopsis
- Prenatal exome sequencing (pES) is increasingly used to diagnose fetuses with structural defects, identifying additional conditions in about 30% who have normal chromosomal microarray analysis (CMA).
- A study categorized prenatal phenotypes for fetuses with pathogenic variants, finding typical features in 67.9% of cases, while uncommon or unreported features complicated some interpretations.
- Recommendations include standardizing prenatal feature descriptions, enhancing follow-up practices, and collecting larger datasets to improve pES analysis.
Background: The treatment of congenital cytomegalovirus (CMV) infection is usually administered to neonates after birth; however, it can be anticipated during the prenatal period by treating pregnant women in order to reduce the severity of the congenital disease. The most commonly used treatment for CMV during pregnancy is valaciclovir; however, valganciclovir has a higher potency against CMV and is the first choice for neonates with congenital CMV disease.
Objectives: We investigated neonatal and maternal safety of tertiary prevention in infected fetuses showing ultrasound features of infection using valganciclovir.
Corrigendum to "Consensus recommendation for prenatal, neonatal and postnatal management of congenital cytomegalovirus infection from the European congenital infection initiative (ECCI)" [The Lancet Regional Health - Europe 40 (2024) 100892].
Lancet Reg Health Eur
July 2024
[This corrects the article DOI: 10.1016/j.lanepe.
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- - TOKAS (Tonne-Kalscheuer syndrome) is a rare genetic disorder linked to multiple congenital anomalies, predominantly affecting males, and only 7 prenatal cases were previously documented among 41 patients.
- - A study identified 11 new cases from 6 French families through collaboration, revealing common features like diaphragmatic hernia, sex development differences, and various malformations, along with previously unreported conditions.
- - This research marks the first comprehensive fetal cohort for TOKAS, enhancing understanding of its clinical traits and genetic variants, with a significant recurrence of a specific genetic mutation noted in many cases.
The stable isotope composition of zinc (δ66Zn), which is an essential trace metal for many biological processes in vertebrates, is increasingly used in ecological, archeological, and paleontological studies to assess diet and trophic level discrimination among vertebrates. However, the limited understanding of dietary controls and isotopic fractionation processes on Zn isotope variability in animal tissues and biofluids limits precise dietary reconstructions. The current study systematically investigates the dietary effects on Zn isotope composition in consumers using a combined controlled feeding experiment and box-modeling approach.
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