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Unusual Association of Partial Fanconi Syndrome and Tumor-Induced Osteomalacia Revealed by Multiple Vertebral Fractures.
Calcif Tissue Int
January 2025
Division of Bone Diseases, Department of Medicine, Geneva University Hospitals, Geneva, Switzerland.
Tumor-induced osteomalacia (TIO) is a rare acquired paraneoplastic syndrome caused by a mesenchymal tumor secreting a phosphaturic hormone called FGF23. Patients present with bone pain, fragility fractures and muscle weakness. Biochemical results show hypophosphatemia, raised serum alkaline phosphatase and reduced calcitriol.
View Article and Find Full Text PDFBroadening the Phenotype Spectrum of MECP2 Variants in Men.
Mol Genet Genomic Med
February 2025
Tampere University Hospital, Wellbeing Services County of Pirkanmaa, Tampere, Finland.
Background: MECP2 variants cause X-chromosome-linked rare developmental syndromes. Typically, the mutation is sporadic, occurs in females and is fatal in men. Accurate genetic and clinical diagnostics are considered essential for the management of symptoms and the development of new treatments.
View Article and Find Full Text PDFVitamin D modulates the content of inflammatory microRNAs in extracellular vesicles from human adipocyte cells in inflammatory context.
Biofactors
January 2025
Aix Marseille University, INSERM, INRAE, C2VN, Marseille, France.
Inflammation of adipose tissue is a contributing factor to many chronic diseases associated with obesity. We previously showed that micronutrients such as vitamin D (VD) limited this metabolic inflammation by decreasing inflammatory markers expression including miR-155 (microRNA-155) or miR-146a in different in vitro and in vivo models. These miRNAs could be incorporated into extracellular vesicles (EVs) in order to modulate the activity of target cells.
View Article and Find Full Text PDFHip Dysplasia in Charcot-Marie-Tooth Disease: Insights From a Large Cohort of Children and Adolescents.
J Peripher Nerv Syst
March 2025
Department of Neurology, Royal Children's Hospital Melbourne, Parkville, Victoria, Australia.
Background And Aims: Despite the known association of hip dysplasia and Charcot Marie Tooth disease (CMT), evidence is limited regarding its exact prevalence. Available studies pre-date genetic confirmation of CMT subtypes and current hip reconstruction surgical options. This study examined the prevalence of hip dysplasia in CMT in a tertiary neuromuscular center.
View Article and Find Full Text PDFA First Case Report of Autoimmune Acquired Factor V Deficiency After Severe Acute Respiratory Syndrome Coronavirus 2 mRNA Vaccination at the Time of Initiating Haemodialysis.
Nephrology (Carlton)
February 2025
Department of Endocrinology, Metabolism, Rheumatology and Nephrology, Faculty of Medicine, Oita University, Oita, Japan.
A 73-year-old Japanese man with chronic kidney disease had no history of abnormal clotting or bleeding. Six days after receiving his third dose of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccine (BNT162b2; Pfizer/BioNTech), blood tests showed a marked prolongation of the prothrombin time-international normalised ratio and activated partial thromboplastin time, as well as a decrease in factor V (FV) activity. Three months later, he required dialysis owing to worsening heart and renal failure.
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