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Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism
Mechanistic studies using Dmp1-null mice demonstrated that absence of DMP1 results in defective osteocyte maturation and increased FGF23 expression, leading to pathological changes in bone mineralization, suggesting a bone-renal axis that is central to guiding proper mineral metabolism. Expand
Effectiveness and safety of vitamin D in relation to bone health.
The largest body of evidence on vitamin D status and bone health was in older adults with a lack of studies in premenopausal women and infants, children and adolescents, and there was fair evidence of an association between low circulating 25(OH)D concentrations and established rickets. Expand
Dual energy X-ray absorptiometry interpretation and reporting in children and adolescents: the 2007 ISCD Pediatric Official Positions.
The International Society for Clinical Densitometry Official Positions on reporting of densitometry results in children represent an effort to consolidate opinions to assist healthcare providersExpand
Vitamin D–deficiency rickets among children in Canada
Vitamin D–deficiency rickets is persistent in Canada, particularly among children who reside in the north and among infants with darker skin who are breast-fed without appropriate vitamin D supplementation, which appears to be infants born to mothers with a profound vitamin D deficiency. Expand
Global Consensus Recommendations on Prevention and Management of Nutritional Rickets.
Rickets, osteomalacia, and vitamin D and calcium deficiencies are preventable global public health problems in infants, children, and adolescents and implementation of international rickets prevention programs, including supplementation and food fortification, is urgently required. Expand
A practical guide to the monitoring and management of the complications of systemic corticosteroid therapy
This comprehensive article reviews these adverse events of systemic corticosteroid therapy and provides practical recommendations for their prevention and management based on both current literature and the clinical experience of the authors. Expand
Type V Osteogenesis Imperfecta: A New Form of Brittle Bone Disease
OI type V is a new form of autosomal dominant OI, which does not appear to be associated with collagen type I mutations, and the genetic defect underlying this disease remains to be elucidated. Expand
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib
Two kindreds with pseudohypoparathyroidism type Ib report deletions that remove the differentially methylated region encompassing exon NESP55 and exons 3 and 4 of the antisense transcript, suggesting that the deleted region contains a cis-acting element that controls imprinting of the maternal GNAS allele. Expand
Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management
The new care considerations acknowledge the effects of long-term glucocorticoid use on the natural history of DMD, and the need for care guidance across the lifespan as patients live longer. Expand
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management
Care considerations for diagnosis of DMD and neuromuscular, rehabilitation, endocrine (growth, puberty, and adrenal insufficiency), and gastrointestinal (including nutrition and dysphagia) management are presented. Expand