7 results match your criteria: "Groupe Hospitalier Sud Ile de France (GHSIF)[Affiliation]"
Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique.
Am J Kidney Dis
January 2025
Hereditary Kidney Diseases Laboratory, Inserm UMR 1163, Imagine Institute, Paris Cité University, Paris, France; Department of Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France. Electronic address:
Rationale & Objective: Molecular diagnosis of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in the MUC1 gene has long been challenging since variants lie in a large Variable Number of Tandem Repeat (VNTR) region, making identification impossible using standard short read techniques. Previously, we addressed this diagnostic limitation by developing a computational pipeline, named VNtyper, for easier reliable detection of MUC1 VNTR pathogenic variants from short read sequences. This led to unexpected diagnoses of ADTKD-MUC1 among patients with kidney disease referred for genetic testing, which we report here.
View Article and Find Full Text PDFAtrial Septal Defect Associated With Right Bundle Branch Block Masking Brugada Syndrome.
JACC Case Rep
May 2023
Department of Cardiology, Henri Mondor University Hospital, Créteil, France.
A type 1 Brugada electrocardiogram pattern may be masked by typical right bundle branch block aspect. We present 2 cases (male patients, aged 18 and 22 years) of associated ostium secundum atrial septal defect with a right bundle branch block aspect and symptomatic confirmed Brugada syndrome. Both patients underwent cardiac defibrillator implantation.
View Article and Find Full Text PDFStreptococcal and enterococcal endocarditis: time for individualized antibiotherapy?-authors' response.
J Antimicrob Chemother
June 2022
Department of Tropical and Infectious Diseases, Groupe Hospitalier Sud Ile de France (GHSIF), Melun, France.
Low transferrin levels predict heightened inflammation in patients with COVID-19: New insights.
Int J Infect Dis
March 2022
Université de Paris, INSERM U1016, Institut Cochin, CNRS UMR 8104, Paris, France; Laboratory of Excellence GR-Ex, Paris, France. Electronic address:
Objectives: Mounting evidence links hyperinflammation in gravely ill patients to low serum iron levels and hyperferritinemia. However, little attention has been paid to other iron-associated markers such as transferrin. The aim of this study was to investigate the association of different iron parameters in severe COVID-19 and their relation to disease severity.
View Article and Find Full Text PDFStreptococcal and enterococcal endocarditis: time for individualized antibiotherapy?
J Antimicrob Chemother
November 2021
Department of Tropical and Infectious Diseases, Groupe Hospitalier Sud Ile de France (GHSIF), Melun, France.
Recommendations for the treatment of streptococcal and enterococcal endocarditis are based on old efficacy studies, but the starting doses have never been reassessed and are associated with significant adverse events. Based on data from other serious infections, we suggest that maintaining a concentration of β-lactams higher than 4-6 times the responsible bacteria MIC 100% of the time in the heart of the vegetation would be a pertinent therapeutic objective. The data point to a diffusion gradient of β-lactams in the vegetation.
View Article and Find Full Text PDFAcute cholangitis in intensive care units: clinical, biological, microbiological spectrum and risk factors for mortality: a multicenter study.
Crit Care
February 2021
Assistance Publique - Hôpitaux de Paris (AP-HP), Service de médecine intensive et réanimation, Hôpital Saint-Antoine, 184 rue du Faubourg Saint-Antoine, 75571, Paris Cedex 12, France.
Article Synopsis
- A retrospective multicenter study analyzed 382 patients admitted to ICUs for acute cholangitis (AC) from 2005 to 2018, noting a 29% in-hospital mortality rate.
- Factors linked to higher mortality included SOFA score, lactate levels, total serum bilirubin, and complications from AC.
- Over time, mortality rates improved significantly, particularly with prompt biliary decompression; delays of more than 48 hours were associated with increased risk of death.
Active tuberculosis, sequelae and COVID-19 co-infection: first cohort of 49 cases.
Eur Respir J
July 2020
Servizio di Epidemiologia Clinica delle Malattie Respiratorie, Istituti Clinici Scientifici Maugeri IRCCS, Tradate, Italy
https://bit.ly/369ZGGu
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