Publications by authors named "A Lebre"
Objective: The objective of this study was to evaluate the implementation of NGS within the French mitochondrial network, MitoDiag, from targeted gene panels to whole exome sequencing (WES) or whole genome sequencing (WGS) focusing on mitochondrial nuclear-encoded genes.
Methods: Over 2000 patients suspected of Primary Mitochondrial Diseases (PMD) were sequenced by either targeted gene panels, WES or WGS within MitoDiag. We described the clinical, biochemical, and molecular data of 397 genetically confirmed patients, comprising 294 children and 103 adults, carrying pathogenic or likely pathogenic variants in nuclear-encoded genes.
Article Synopsis
- The study analyzes data from two groups of individuals with DDX3X variations, one from physicians (48 individuals) and the other from caregivers (44 individuals).
- The results reveal shared symptoms between the two groups, including previously unreported early childhood issues like feeding difficulties and delayed developmental milestones.
- The discussion emphasizes that both datasets complement each other, highlighting the importance of addressing symptoms such as ADHD, anxiety, and sleep disturbances in affected individuals.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease. While biallelic variants affecting IFT140 are responsible for Mainzer-Saldino syndrome (characterized by severe ciliopathy causing skeletal abnormalities, kidney disease, and cysts), monoallelic loss-of-function (LoF) variants have been recently reported as an important cause of ADPKD beyond PKD1/2 genes. Herein, we report 6 non-family-related cases of monoallelic IFT140 LoF variants, identified from 1,340 exomes sequenced for nephrological indications in our local database.
View Article and Find Full Text PDFSurveillance of surgical site infection after colorectal surgery: comprehensiveness and impact of risk factors.
Infect Control Hosp Epidemiol
October 2023
Objective: The incidence of surgical site infection (SSI) is highest after colorectal surgery. We assessed the impact of risk factors for SSI using the population attributable fraction (PAF).
Design: Retrospective cohort study.
Introduction: Exome sequencing (ES) has widened the field of nephrogenomics in adult nephrology. In addition to reporting the diagnostic yield of ES in an adult cohort study, we investigated the clinical implications of molecular diagnosis and developed a clinical score to predict the probability of obtaining positive result.
Methods: From September 2018 we have used ES to prospectively perform a first-tier liberal exploration of adult nephropathies of unknown origin and/or when a genetic kidney disease was clinically suggested.