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Oral Manifestations in a Child With Distal Renal Tubular Acidosis, and Refractory Rickets.
Spec Care Dentist
January 2025
Department of Pediatric and Preventive Dentistry, Centre for Dental Education and Research, AIIMS, New Delhi, India.
Renal tubular acidosis (RTA) is a group of disorders in which there is an alteration in acid-base homeostasis because of the impairment of nephrons to excrete hydrogen ions or reabsorb bicarbonate ions, resulting in chronic metabolic acidosis. RTA is an important cause of rickets, particularly 'resistant rickets'. Dental manifestations frequently reported in patients with RTA include enamel hypoplasia and amelogenesis imperfecta, affecting permanent dentition.
View Article and Find Full Text PDFCrispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragility.
Elife
January 2025
Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Heritable fragile bone disorders (FBDs), ranging from multifactorial to rare monogenic conditions, are characterized by an elevated fracture risk. Validating causative genes and understanding their mechanisms remain challenging. We assessed a semi-high throughput zebrafish screening platform for rapid in vivo functional testing of candidate FBD genes.
View Article and Find Full Text PDFCinacalcet Improves Erythropoietin Resistance in Patients with Secondary Hyperparathyroidism Receiving Dialysis Treatment.
Curr Pharm Des
January 2025
Department of Nephrology, the Second Affiliated Hospital of Shantou University Medical College, Shantou, 515041, China.
Introduction: Chronic Kidney Disease (CKD) is recognized as a major global public health problem. Dialysis is the mainstay of treatment for patients with end-stage renal disease and can prolong survival in patients with CKD. As patient survival increases, the treatment of complications becomes more important.
View Article and Find Full Text PDFECM Modifications Driven by Age and Metabolic Stress Directly Promote the Vascular Smooth Muscle Cell Osteogenic Processes.
Arterioscler Thromb Vasc Biol
January 2025
British Heart Foundation Centre of Research Excellence, School of Cardiovascular and Metabolic Medicine & Sciences, King's College London, United Kingdom. (M.W., M.F., R.O., L.S., M.M., C.M.S.).
Background: The ECM (extracellular matrix) provides the microenvironmental niche sensed by resident vascular smooth muscle cells (VSMCs). Aging and disease are associated with dramatic changes in ECM composition and properties; however, their impact on the VSMC phenotype remains poorly studied.
Methods: Here, we describe a novel in vitro model system that utilizes endogenous ECM to study how modifications associated with age and metabolic disease impact the VSMC phenotype.
Risk factors for developing osteoporosis in diabetic kidney disease and its correlation with calcium-phosphorus metabolism, FGF23, and Klotho.
World J Diabetes
January 2025
Department of Endocrinology, Wuhu Second People's Hospital, Wuhu 241000, Anhui Province, China.
Background: The progression of diabetic kidney disease (DKD) affects the patient's kidney glomeruli and tubules, whose normal functioning is essential for maintaining normal calcium (Ca) and phosphorus (P) metabolism in the body. The risk of developing osteoporosis (OP) in patients with DKD increases with the aggravation of the disease, including a higher risk of fractures, which not only affects the quality of life of patients but also increases the risk of death.
Aim: To analyze the risk factors for the development of OP in patients with DKD and their correlation with Ca-P metabolic indices, fibroblast growth factor 23 (FGF23), and Klotho.
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