Bone Abstracts

PHP1B -iPPSD3 per the new proposed classification- is a rare disorder characterized in most patients by proximal tubular resistance to PTH resulting in hypocalcemia, hyperphosphatemia and elevated PTH. Loss-of-methylation (LOM) at the Differentially Methylated Region (DMR) at GNAS exon A/B occurs in all PHP1B patients, but methylation changes at other DMRs within GNAS occur in some familial and most sporadic PHP1B cases. All patients with autosomal dominant PHP1B (AD-...

Background: Pycnodysostosis (PDO) is a rare autosomal recessive high bone mass disorder caused by absence of active cathepsin K, which is a lysosomal cysteine protease that plays an important role in degrading the organic matrix of bones. In spite of open fontanelles, raised intracranial pressure has been reported in children with PDO.Presenting problem: We describe a 13-year-old boy with PDO who developed raised intracranial pressure (ICP) which led to ...

We studied changes in intracellular Ca2+ concentration in bone cell cultures obtained from human subjects with osteoporosis and osteoarthritis, to evaluate differences between these patients and healthy subjects. We enrolled 36 patients: 12 undergoing primary total hip arthroplasty for osteoporotic femoral fractures (group A, mean age range 57–80), 12 for hip osteoarthritis (group B, mean age range 57–80), and 12 healthy subjects who suffered a high-energy...

Introduction: Liver transplant candidates have bone and mineral metabolism disorders that may influence the development of fractures after liver transplantation (LT).Objective: To analyze the levels of 25-hydroxyvitamin D (25-OH-D) in patient candidates for LT and the factors associated with vitamin D deficiency.Methods: Between January 2010 and May 2012, 116 liver transplant candidates (85 male and 31 female patients) were include...

: This study analyses the long-term effect of rhGH on final height (FH) and bone health in renal transplanted patients.Twenty-one young adult patients, aged 17–26 years, were studied. Group A consisted of 15 patients (12 boys) who received rhGH during 3.0 years before transplantation. After transplantation three boys needed rhGH again for 3.5 years. In group B six patients (three boys) didn’t need rhGH before transplantation, three girls receiv...

Cherubism is a rare genetic disorder characterized by extensive growth of a bilateral granuloma of the jaws, resulting in facial disfigurement.Histologically, the lesions consist of a fibrotic stroma with osteoclastic-like multinuclear giant cells (MGC). Cherubism is caused by gain-of-function mutations in the SH3BP2 protein. SH3BP2 is an intracellular adaptor protein positively regulating the activity of the nuclear factor of activated T-cells c1 (NFATc...

Background: Surgical and conservative treatments are both crucial method to deal with osteoporotic fracture, anti-osteoporotic therapy is the most important among conservative treatments and diphosphonate medicine is the first-line choice. The pharmacological action of diphosphonate medicine is to inhibit the function of osteoclast, so there is no consensus if it will inhibit porosis and union of fracture.Purpose: To find out the influence of diphosphona...

Objective: Using DXA, we have previously reported that children with type 1 diabetes (T1D) had short and thin bones (Bone, 2015). Calcium supplementation promotes bone mass accrual with sustained benefit observed using milk/milk-based calcium but not calcium salts. To investigate effect of 1-year supplementation with milk vs pharmacological calcium salt on bone mineral density (BMD) and geometryin Indian underprivileged children with T1D. Both groups received vitamin D supplem...

Age-related loss of skeletal muscle mass and function is a major cause of loss of mobility, increased frailty and falls in the elderly and impacts profoundly on the quality of life of older people. Modified reactive oxygen species (ROS) generation has been implicated in the mechanisms by which muscle function is lost with increasing age. ROS are increased in skeletal muscles of adult mice following a period of isometric contractions and this is associated with adaptive increas...

Introduction: Loss in bone mineral density may occur soon after initiation of adjuvant therapy for hormone-receptor-positive (HR+), breast cancer (BC) and correlates with changes in hormone levels. Adding zoledronic acid (ZOL) to adjuvant treatment for BC can preserve/improve bone mineral density and delay disease recurrence; however, effects of ZOL on endocrine hormone levels are currently unclear.Methods: Probone II assessed the course of endocrine hor...