Oral Iron for Prevention and Treatment of Rickets and Osteomalacia in Autosomal Dominant Hypophosphatemia
Published in Journal of Bone and Mineral Research
Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Mo...
...Published in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Biallelic ENPP1 deficiency in humans induces generalized arterial calcification of infancy (GACI) and/or autosomal recessive hypophosphatemic rickets type 2 (ARHR2). The latter is characterized by markedly increased circulating FGF23 levels and renal phosphate wasting, but aberrant skeletal manifestations associated with heterozygous ENPP1 deficien...
The Associations Between Seven Different Types of Physical Activity and the Incidence of Fracture at Seven Sites in Heal...
Published in Journal of Bone and Mineral Research
There is a paucity of information on associations between specific types of physical activity and fracture risk at different sites in otherwise healthy postmenopausal women. Therefore, we examined risk of fracture at seven different sites associated with seven different types of physical activity in the population‐based prospective UK Million Women...
Nonremission and Recurrent Tumor‐Induced Osteomalacia: A Retrospective Study
...Published in Journal of Bone and Mineral Research
Tumor‐induced osteomalacia (TIO) is a rare paraneoplastic syndrome. It is curable by excision of the causative tumor. However, a few cases may persist or relapse after tumor resection. We aimed to investigate the rate of these events and related factors. We retrospectively studied TIO patients treated with surgery in a tertiary hospital. TIO was es...
A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD‐Dependent BMP Signaling Pathway as a Potenti...
...Published in Journal of Bone and Mineral Research
Novel anabolic drug targets are needed to treat osteoporosis. Having established a large national cohort with unexplained high bone mass (HBM), we aimed to identify a novel monogenic cause of HBM and provide insight into a regulatory pathway potentially amenable to therapeutic intervention. We investigated a pedigree with unexplained HBM in whom pr...
Regulation of the Bone Vascular Network is Sexually Dimorphic.
...Published in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Osteoblast (OB) lineage cells are an important source of vascular endothelial growth factor (VEGF), which is critical for bone growth and repair. During bone development, pubertal differences in males and females exist, but little is known about whether VEGF signaling contributes to skeletal sexual dimorphism. We have found that in mice, conditiona...
The Effect of a Screening and Treatment Program for the Prevention of Fractures in Older Women: A Randomized Pragmatic T...
...Published in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Population screening for fracture risk may reduce the fracture incidence. In this randomized pragmatic trial, the SALT Osteoporosis Study (SOS), we studied whether screening for fracture risk and subsequent treatment in primary care can reduce fractures compared with usual care. A total of 11,032 women aged 65 to 90 years with ≥1 clinical risk fact...
Exercise Degrades Bone in Caloric Restriction, Despite Suppression of Marrow Adipose Tissue (MAT)
Published in Journal of Bone and Mineral Research
Marrow adipose tissue (MAT) and its relevance to skeletal health during caloric restriction (CR) is unknown: It remains unclear whether exercise, which is anabolic to bone in a calorie‐replete state, alters bone or MAT in CR. We hypothesized that response of bone and MAT to exercise in CR differs from the calorie‐replete state. Ten‐week‐old female ...
Fracture Risk in Trans Women and Trans Men Using Long‐Term Gender‐Affirming Hormonal Treatment: A Nationwide Cohort Stud...
Published in Journal of Bone and Mineral Research
Concerns about bone health in transgender people using gender‐affirming hormonal treatment (HT) exist, but the fracture risk is not known. In this nationwide cohort study, we aimed to compare the fracture incidence in transgender people using long‐term HT with an age‐matched reference population. All adult transgender people who started HT before 2...
Burosumab Improved Histomorphometric Measures of Osteomalacia in Adults with X‐Linked Hypophosphatemia: A Phase 3, Singl...
...Published in Journal of Bone and Mineral Research
In adults with X‐linked hypophosphatemia (XLH), excess FGF23 impairs renal phosphate reabsorption and suppresses production of 1,25‐dihydroxyvitamin D, resulting in chronic hypophosphatemia and persistent osteomalacia. Osteomalacia is associated with poor bone quality causing atraumatic fractures, pseudofractures, delayed fracture healing, and bone...
