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Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.
BMC Pregnancy Childbirth
January 2025
Department of Clinical Genetics, Rennes University Hospital, Rennes, France.
Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.
View Article and Find Full Text PDFNicotine enhances the stemness and tumorigenicity in intestinal stem cells via Hippo-YAP/TAZ and Notch signal pathway.
Elife
January 2025
Department of Diabetes and Metabolic Diseases, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Cigarette smoking is a well-known risk factor inducing the development and progression of various diseases. Nicotine (NIC) is the major constituent of cigarette smoke. However, knowledge of the mechanism underlying the NIC-regulated stem cell functions is limited.
View Article and Find Full Text PDFIdentification of biomarkers for chronic lymphocytic leukemia risk: a proteome-wide Mendelian randomization study.
Discov Oncol
January 2025
Department of Hematology, The First Affiliated Hospital of Ningbo University, No.59 Liu-Ting Road, Ningbo, 315000, People's Republic of China.
Background: Chronic lymphocytic leukemia (CLL) is a common hematologic malignancy. Although previous research has explored associations between plasma proteins and CLL, the causal relationships remain unclear. This study used Mendelian randomization (MR) to investigate the causal relationship between 7156 plasma proteins and CLL risk.
View Article and Find Full Text PDFDiversity in Notch ligand-receptor signaling interactions.
Elife
January 2025
Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, United States.
The Notch signaling pathway uses families of ligands and receptors to transmit signals to nearby cells. These components are expressed in diverse combinations in different cell types, interact in a many-to-many fashion, both within the same cell (in cis) and between cells (in trans), and their interactions are modulated by Fringe glycosyltransferases. A fundamental question is how the strength of Notch signaling depends on which pathway components are expressed, at what levels, and in which cells.
View Article and Find Full Text PDFA transgender medicine curriculum for Internal Medicine residents at a single academic institution.
BMC Med Educ
January 2025
Division of Endocrinology, Department of Medicine, Queen's University, Kingston, Canada.
Background: Transgender or gender diverse patients present with health care needs as it relates to gender-affirming care, psychosocial support, and medication access. Considering this, medical education strategies should be implemented to train the next generation of Internal Medicine physicians in this area.
Methods: We adopted Kern's six step approach to curriculum design to create and implement an educational curriculum for teaching Internal Medicine residents about transgender patients at a single academic institution in Canada (Kern et al, Curriculum Development for Medical Education, 2009).
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