Publications by authors named "J-M Chaix"
Article Synopsis
- This study investigates COVID-19-associated pulmonary aspergillosis (CAPA) among critically ill patients during the Omicron variant wave, finding it affects 5.1% of patients and 9.1% of those on invasive mechanical ventilation.
- CAPA patients showed higher rates of immunosuppression and required more intensive care measures, like vasopressors and renal therapy, compared to non-CAPA patients.
- While CAPA did not significantly impact day-28 mortality, it was linked to longer mechanical ventilation and ICU stays, suggesting a shift in outcomes with emerging SARS-CoV-2 variants.
Article Synopsis
- A study was conducted on 158 adult patients with acute respiratory failure due to SARS-CoV-2, focusing on the impact of various Omicron sublineages, including BA.2, BA.4/BA.5, and BQ.1.1.
- Patients infected with the recent BQ.1.1 variant displayed a higher rate of obesity and a lower rate of immunosuppression compared to those with earlier sublineages.
- Despite these differences in patient characteristics, there was no significant variation in disease severity at ICU admission, organ support needs, or 28-day mortality across the different sublineage groups.
Article Synopsis
- * A study of 259 patients revealed distinct clinical profiles between those infected with Omicron and those with Delta, but no significant impact of variant sublineages on 28-day mortality rates.
- * Immunocompromised patients infected with Omicron experienced higher mortality rates compared to non-immunocompromised individuals, despite many having received at least two vaccine doses and showing poor immune responses.
Rationale: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored.
View Article and Find Full Text PDFObjective: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and could not thus far be correlated with disease presence or severity.
Methods: To investigate the link between clinical signs of FSHD and DNA methylation, we explored 95 cases (37 FSHD1, 29 asymptomatic individuals carrying a shortened D4Z4 array, 9 patients with FSHD2, and 20 controls) by implementing 2 approaches: methylated DNA immunoprecipitation and sodium bisulfite sequencing.
Results: Both methods revealed statistically significant differences between asymptomatic carriers or controls and individuals with clinical FSHD, especially in the proximal region of the repeat.