Hôpital Pasteur

Cholestatic Liver Failure and Hypoglycemia in a Newborn: A Mitochondrial Pathology due to Citrin Deficiency

ABSTRACT In an infant with cholestasis and recurrent hypoglycemia, the combination of hypercitrullinemia, hypermethioninemia, and hyperthreoninemia should prompt testing for citrin deficiency, because early metabolic and genetic diagnosis allows targeted nutritional treatment and...

Comprehensive proteomic and structural mapping of post-translational modifications of human thyroglobulin

Human thyroglobulin (hTg) is the precursor of thyroid hormones (TH) and a major iodine reservoir in the thyroid gland. Its maturation and function critically depend on multiple post-translational modifications (PTMs). To date, their global distribution, structural organization an...

Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy

ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoi...

LDL Cholesterol Lowering With Evolocumab Before Percutaneous Coronary Intervention for Acute Myocardial Infarction

Importance: Proprotein convertase subtilisin-kexin type 9 (PCSK9) inhibition is recommended as second- or third-line lipid-lowering therapy after myocardial infarction (MI), resulting in prolonged periods of inadequate low-density lipoprotein cholesterol (LDL-C) control. Whether...

A survey among geriatricians on geriatric oncology and geriatric surgical oncology models in Europe

Abstract Purpose To provide an up-to-date overview of geriatricians’ involvement in oncological and onco-surgical care for older adults across Europe. Methods An anonymous 35-item online survey was distributed via (inter)national societies between 10 April and 23 May 2025. The re...

Decoding the causes of ischemic stroke despite ongoing oral anticoagulation and their clinical impact: the ASPERA-R study

BACKGROUND: Oral anticoagulants (OACs), including vitamin K antagonists and direct OACs, reduce stroke risk in atrial fibrillation (AF), yet breakthrough ischemic stroke still occurs in 1-2% of patients annually despite adequate therapy. The mechanisms underlying these events rem...

Rab4b controls hepatic glucose production during fasting through glycophagy

Abstract Hepatic glucose production, essential for maintaining glycemia, is often altered in metabolic-associated fatty liver and glycogen storage diseases. Therefore, understanding the mechanisms that regulate the glucose production by hepatocyte is pivotal. Recent studies have...