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Dental manifestations of hypophosphatasia: translational and clinical advances.
JBMR Plus
February 2025
Division of Biosciences, College of Dentistry, The Ohio State University, Columbus, OH, 43210, United States.
Hypophosphatasia (HPP) is an inherited error in metabolism resulting from loss-of-function variants in the gene, which encodes tissue-nonspecific alkaline phosphatase (TNAP). TNAP plays a crucial role in biomineralization of bones and teeth, in part by reducing levels of inorganic pyrophosphate (PP), an inhibitor of biomineralization. HPP onset in childhood contributes to rickets, including growth plate defects and impaired growth.
View Article and Find Full Text PDF18F-Sodium Fluoride PET/CT as a Tool to Assess Enthesopathies in X-Linked Hypophosphatemia.
Calcif Tissue Int
January 2025
Endocrinology Department, School of Medicine, Pontificia Universidad Católica de Chile, Av. Diagonal Paraguay 262, Cuarto Piso, Santiago, Chile.
X-linked hypophosphatemia (XLH) is a rare metabolic disorder characterized by elevated FGF23 and chronic hypophosphatemia, leading to impaired skeletal mineralization and enthesopathies that are associated with pain, stiffness, and diminished quality of life. The natural history of enthesopathies in XLH remains poorly defined, partly due to absence of a sensitive quantitative tool for assessment and monitoring. This study investigates the utility of 18F-NaF PET/CT scans in characterizing enthesopathies in XLH subjects.
View Article and Find Full Text PDFEtiology, clinical characteristics, genetic profile, and outcomes of children with refractory rickets at a referral center in India: a cohort study.
Pediatr Nephrol
January 2025
Pediatric Nephrology Services, Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, 605006, India.
Background: Limited research exists regarding the genetic profile, clinical characteristics, and outcomes of refractory rickets in children from India.
Methods: Patients with refractory rickets aged ≤ 18 years were enrolled. Data regarding clinical features, etiology, genotype-phenotype correlation, and estimated glomerular filtration rate (eGFR) were recorded.
Segmental analysis of human hair reveals intra-annual variation in 25(OH)D concentrations in modern and archaeological individuals.
Sci Rep
January 2025
The Rowett Institute, University of Aberdeen, Foresterhill, Aberdeen, UK.
Vitamin D is essential for healthy skeletal growth and is increasingly recognised for its role in chronic disease development, inflammation and immunity. 25-hydroxyvitamin D (25(OH)D) concentrations are an indicator of vitamin D status and are normally analysed in plasma or serum samples in clinical settings, while archaeological studies rely on the identification of skeletal markers of vitamin D deficiency, such as rickets. Here, we determined 25(OH)D concentrations in hair specimens ('locks') that had been sampled close to the root, aligned by cut end, and sliced into sequential segments from participants (n = 16), from Aberdeen, Scotland, using a modified protocol designed to minimise sample size.
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