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Base of Skull & Spinal Canal Narrowing in an Adolescent with Autosomal Recessive Hypophosphatemic Rickets Type 2.
Calcif Tissue Int
January 2025
Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is an uncommon hereditary form of rickets characterised by chronic renal phosphate loss and impaired bone mineralisation. This results from compound heterozygous or homozygous pathogenic variants in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), a key producer of extracellular inorganic pyrophosphate (PPi) and an inhibitor of fibroblast growth factor23 (FGF23). ENPP1 deficiency impacts FGF23 and increases its activity.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
Vanderbilt Memory and Alzheimer's Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Background: In humans, larger artery stiffening is associated with increased tau phosphorylation and neurodegeneration. However, because arterial stiffness often co-occurs with other age-related conditions like hypertension, atherosclerosis, and diabetes, it is nearly impossible to distill the underlying mechanisms specifically linking arterial stiffening to abnormal brain function. We leveraged a surgical mouse model of larger artery stiffening and used it concurrently with a transgenic Alzheimer's disease (AD) mouse model of tau pathology to investigate the impact of larger artery stiffening on cognition.
View Article and Find Full Text PDFAutomated abdominal aortic calcification and major adverse cardiovascular events in people undergoing osteoporosis screening: the Manitoba Bone Mineral Density Registry.
J Bone Miner Res
January 2025
Departments of Medicine and Radiology, University of Manitoba, Winnipeg, Canada.
Vertebral fracture assessment (VFA) images from bone density machines enable the automated machine learning assessment of abdominal aortic calcification (ML-AAC), a marker of cardiovascular disease (CVD) risk. The objective of this study was to describe the risk of a major adverse cardiovascular event (MACE, from linked health records) in patients attending routine bone mineral density (BMD) testing and meeting specific criteria based on age, BMD, height loss, or glucocorticoid use have a VFA in the Manitoba Bone Mineral Density Registry. The cohort included 10 250 individuals (mean 75.
View Article and Find Full Text PDFTranscatheter mitral valve implantation in severe mitral annular calcification: a case report.
Eur Heart J Case Rep
January 2025
HerzZentrum Hirslanden, 8032 Zurich, Switzerland.
Background: Mitral annular calcification (MAC) is characterized by severe calcification of mitral annulus and might be associated with both mitral regurgitation and stenosis. It is technically challenging for both surgical and percutaneous approach and is burdened by high mortality.
Case Summary: The present case report describes a complex case of mitral steno-insufficiency (baseline transvalvular gradient = 5 mmHg, effective regurgitant orifice area 0.
Deficiency of Sox7 leads to congenital aortic stenosis via abnormal valve remodeling.
J Mol Cell Cardiol
December 2024
Institute for Developmental and Regenerative Cardiovascular Medicine, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China. Electronic address:
Abnormal valve development is the most common congenital heart malformation. The transcription factor Sox7 plays a critical role in the development of vascular and cardiac septation. However, it remains unclear whether Sox7 is required for heart valve development.
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