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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 PDFEffect of oral potassium supplementation on urinary potassium excretion and its diagnostic value for primary aldosteronism.
Clin Exp Hypertens
December 2025
Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.
Objectives: We aimed to: (1) explore the effect of oral potassium supplementation on urinary potassium excretion, and (2) evaluate the value of urinary potassium-related indicators in distinguishing primary aldosteronism (PA) from non-PA patients.
Design And Methods: A prospective study of 20 patients with hypertension and hypokalemia caused by renal potassium loss between November 2023 and April 2024 was conducted. Demographic features, 24-hour urine collection before and after potassium supplementation were all collected.
Ethnicity and race as modifiers of the association between patient sex and stage at diagnosis of bladder cancer.
Cancer Epidemiol
January 2025
Florida International University Herbert Wertheim College of Medicine, Miami, FL, USA. Electronic address:
Background: With over 80,000 projected new diagnoses in 2024, bladder cancer remains a significant public health concern. Given the absence of routine screening protocols, identifying high-risk populations becomes crucial for early detection and intervention. This study aimed to investigate whether race and ethnicity modify the association between sex and stage at diagnosis in adults with primary bladder cancer.
View Article and Find Full Text PDFE-waste contains hazardous chemicals that may be a direct health risk for workers involved in recycling. We conducted an untargeted metabolomics analysis of urine samples collected from male e-waste processing workers to explore metabolic changes associated with chemical exposures in e-waste recycling in Belgium, Finland, Latvia, Luxembourg, the Netherlands, Poland, and Portugal. Questionnaire data and urine samples were obtained from workers involved in the processing of e-waste (sorting, dismantling, shredding, pre-processing, metal, and non-metal processing), as well as from controls with no known occupational exposure.
View Article and Find Full Text PDFVariable temocillin protein binding and pharmacokinetics in different clinical conditions: Implications for target attainment.
Br J Clin Pharmacol
January 2025
Department of Medical Microbiology, Haaglanden Medisch Centrum, The Hague, The Netherlands.
Aims: The beta-lactam antibiotic temocillin is increasingly used to treat extended-spectrum beta-lactamase (ESBL-producing) strains; however, its protein binding is complex. This study aims to predict unbound temocillin concentrations in various participant groups to determine its impact on the probability of target attainment (PTA) and to improve dosing recommendations.
Methods: The plasma pharmacokinetics were analysed using non-linear mixed-effects modelling.
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