Publications by authors named "A Lavillaureix"
Article Synopsis
- MRKH syndrome is a serious condition that affects women's reproductive systems and can have other health issues, like kidney problems or heart defects.
- Most women with MRKH have not been thoroughly checked for other related health problems, which is important for their treatment options.
- Some women with MRKH may be able to get a uterine transplant, but many do not meet the criteria to be eligible for this procedure.
Purpose: DISP1 encodes a transmembrane protein that regulates the secretion of the morphogen, Sonic hedgehog, a deficiency of which is a major cause of holoprosencephaly (HPE). This disorder covers a spectrum of brain and midline craniofacial malformations. The objective of the present study was to better delineate the clinical phenotypes associated with division transporter dispatched-1 (DISP1) variants.
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- Variants of uncertain significance (VUS) present challenges in diagnosing rare diseases, and episignatures have emerged as potential biomarkers to help classify these variants.
- A study analyzed DNA methylation data from different groups, including carriers of pathogenic variants and healthy controls, using a k-nearest-neighbour classifier to assess the predictive abilities of various episignatures.
- Results revealed that while some signatures (ATRX, DNMT3A, KMT2D, NSD1) achieved 100% sensitivity, others (CREBBP-RSTS, CHD8) showed lower performance, indicating that not all episignatures are equally reliable for diagnostic use and highlighting the need for further validation with larger sample sizes.
Mayer-Rokitansky-Küster-Hauser syndrome patients' interest, expectations and demands concerning uterus transplantation.
J Gynecol Obstet Hum Reprod
December 2023
Objective: To better understand patients' conditions and expectations before starting a uterus transplantation (UTx) program for women suffering from Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome).
Method: A web-based survey was conducted among MRKH patients via the French national association network from March to August 2020. The questionnaire comprised twenty-eight questions about their desire for parenthood, their condition's characteristics and previous reconstructive procedures, opinions and knowledge about UTx.
Jansen-de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D. As the full phenotypic spectrum and natural history remain to be defined, we describe a large cohort of children and adults with JdVS. This is a retrospective cohort study of 37 individuals from 34 families with disease-causing variants in PPM1D leading to JdVS.
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