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http://dx.doi.org/10.1136/bcr-2015-213284 | DOI Listing |
Eur Heart J Case Rep
January 2025
Service de Cardiologie, Hôpital Trousseau, CHU de Tours, Avenue de la République, 37170 Chambray-Les-Tours, France.
Background: Myocardial bridging (MB) is considered a frequent and benign condition. However, some patients may experience symptoms. The recent ESC guidelines on sports participation provide guidance on the management of these symptomatic patients with MB but do not provide guidance in the presence of another cardiac pathology.
View Article and Find Full Text PDFJ Med Genet
January 2025
Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.
View Article and Find Full Text PDFCurr Opin Gastroenterol
January 2025
Reference Center for Inflammatory Biliary Diseases and Autoimmune Hepatitis, European Reference Network on Hepatological Diseases (ERN Rare-Liver), Saint-Antoine Hospital, Assistance Publique - Hôpitaux de Paris; Sorbonne University, INSERM, Saint-Antoine Research Center (CRSA).
Purpose Of Review: Low phospholipid-associated cholelithiasis (LPAC) syndrome is a rare genetic form of intrahepatic cholesterol lithiasis, affecting mainly young adults. This review describes the recent advances in genetic and clinical characterization, diagnosis and management of LPAC syndrome.
Recent Findings: Recent publications report data from several retrospective cohorts.
JAGN1 (Jagunal-homolog1) is a ER-resident transmembrane protein which is part of the early secretory pathway and granulocyte colony-stimulating factor receptor mediated signaling. Autosomal recessively inherited variants in the JAGN1 gene lead to congenital neutropenia, early-onset bacterial infections, aphthosis and skin abscesses due to aberrant differentiation and maturation of neutrophils. In addition, bone metabolism disorders and a syndromic phenotype, including facial features, short stature and neurodevelopmental delay, have been reported in affected patients.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
Sorbonne Université, INSERM, Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, F-75012, Paris, France.
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