Animal studies using mice model such as vitamin D deficiency and global and conditional VDR knock out(KO)mice have disclosed that the physiological role of vitamin D strongly depends on the calcium balance. Vitamin D stimulates active intestinal calcium transport mechanism, thereby maintains normocalcemia that has priority over skeletal integrity. Besides the biological significance of vitamin D extensively studied, its precise function in non-classical target needs further investigation.
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Vitamin D concentration in maternal serum during pregnancy: Assessment in Hokkaido in adjunct study of the Japan Environment and Children's Study (JECS).
PLoS One
November 2024
Faculty of Dental Medicine, Department of Orthodontics, Hokkaido University, Sapporo, Hokkaido, Japan.
Article Synopsis
- Vitamin D is crucial for bone health and has been linked to COVID-19 severity, but little is known about its levels in pregnant women in Hokkaido, Japan.
- The study measured vitamin D2 and D3 levels in 206 pregnant women and analyzed their relationship with seasonal changes and sunshine exposure.
- Results showed that nearly all participants were vitamin D deficient, highlighting the need for interventions to improve vitamin D levels for the health of pregnant women and their babies.
Impact of X-linked hypophosphatemic rickets/osteomalacia on health and quality of life: baseline data from the SUNFLOWER longitudinal, observational cohort study.
JBMR Plus
November 2024
Center for Promoting Treatment of Intractable Diseases, ISEIKAI International General Hospital, Osaka 530-0052, Japan.
Article Synopsis
- * The research included data from 147 patients (77 children and 70 adults) who were mostly treated with phosphate and active vitamin D, revealing significant challenges related to height, pain severity, and quality of life (QOL) in both age groups.
- * Findings showed that while children reported low pain levels, adults experienced mild-to-moderate pain, with both groups experiencing low QOL, which highlights the ongoing need for better understanding and management strategies for XL
Cystinosis-associated metabolic bone disease across ages and CKD stages 1-5D/T.
J Clin Endocrinol Metab
July 2024
Department of Pediatric Kidney, Liver and Metabolic Diseases, Pediatric Research Center, Hannover Medical School, Hanover, Germany.
Context: The pathophysiology of cystinosis-associated metabolic bone disease is complex.
Objective: We hypothesized a disturbed interaction between osteoblasts and osteoclasts.
Design: Binational cross-sectional multicenter study.
Optimisation of vitamin D status in global populations.
Osteoporos Int
August 2024
Jean Mayer USDA Human Nutrition Research Center on Aging at Tufts University, Boston, MA, USA.
Vitamin D is important for musculoskeletal health. Concentrations of 25-hydroxyvitamin D, the most commonly measured metabolite, vary markedly around the world and are influenced by many factors including sun exposure, skin pigmentation, covering, season and supplement use. Whilst overt vitamin D deficiency with biochemical consequences presents an increased risk of severe sequelae such as rickets, osteomalacia or cardiomyopathy and usually warrants prompt replacement treatment, the role of vitamin D supplementation in the population presents a different set of considerations.
View Article and Find Full Text PDFUnmeasurable low vitamin D levels caused by a novel, homozygote loss-of-function variant in the group-specific component gene.
Eur J Endocrinol
June 2024
Department of Clinical Biochemistry, Aarhus University Hospital, 8200 Aarhus, Denmark.
A 29-year-old female, born to consanguineous parents, was found with unmeasurable levels of vitamin D (<10 nmol/L) after routine biochemical screening during her first pregnancy. She did not respond to either oral or intramuscular vitamin D supplementation and was an otherwise healthy young woman, with no signs of rickets, osteomalacia, osteoporosis, or secondary hyperparathyroidism. Western blot analysis revealed total lack of vitamin D binding protein, and next generation sequencing confirmed a novel, pathogenic homozygote loss-of-function mutation in exon 13 of the group-specific component gene, that encodes the poly A tail for vitamin D binding protein.
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