Bone Abstracts

Dipeptidyl peptidase 4 (DPP4) modulates activity of proteins by removing two aminoterminal amino acids. DPP4 inhibitors are currently being used to improve glucose tolerance in type 2 diabetes patients by increasing the half-life of DPP4 substrates. It has been shown that these substrates do not only increase pancreatic insulin secretion, but also influence bone cell activity. The potential therapeutic effect of DPP4 inhibition on bone metabolism is thus worth being investigat...

Infantile spinal muscular atrophy X-linked 2 (SMAX2) is a rare form of spinal muscular atrophy manifesting in severe hypotonia, areflexia, arthrogryposis, facial weakness and cryptorchidism, as frequently accompanied by bone fractures.We present a boy patient with SMAX2 who presented typical symptoms from birth, as preceded by reduced fetal movements in the second and third trimester of pregnancy. In the first days of life the patient was found to have s...

Background: Mutations in the PLS3 gene, encoding plastin 3, cause X-linked osteoporosis. Osteoporosis is characterized by low bone mineral density (BMD) and increased susceptibility to fractures. Here we describe a 7-year-old boy with osteoporosis due to a novel PLS3 deletion.Presenting problem: The patient, born to non-consanguineous parents, had a history of one low-energy long-bone fracture, three vertebral fractures (T5, T6 T8) and kyphosis. DXA scan...

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Emerging evidence suggests that miRNAs (miR) can modulate a complex gene network in a cell-intrinsic and non-cell autonomous manner. We previously identified by transcriptomic analysis miR-192 to be heavily downregulated in different highly metastatic subpopulations (HMS) isolated from bone metastases in a lung cancer mice model, but its mechanistic contribution to the prometastatic activity remains unknown.To delineate the pleiotropic functions elicited...

Destruction of the articular cartilage is the major feature of Osteoarthritis (OA). Ageing is the primary risk factor, but how ageing results in OA is still an enigma. In OA, articular chondrocytes degrade their own matrix, while in healthy articular cartilage they preserve it.Transforming growth factor β (TGFβ) is a central regulator of chondrocyte proliferation, differentiation and extracellular matrix production. Deregulation of TGFβ si...

Background: The optimal level of 25-hydroxyvitamin D2 (25(OH) D) for a healthy bone is not clear, nor the effects of treatment with vitamin D. Few previous studies have measured treatment effect on BMD in young deficient individuals.Materials and methods: A treatment group of vitamin D deficient immigrant women and a control group of ethnic Swedish women were recruited during pregnancy. A treatment of 800–1600 IU cholecalciferol and 500–1000 mg...

We report a male child presenting with antenatally diagnosed bilateral talipes equinovarus, short stature, bilateral cryptorchidism and poor weight gain; born at 39 weeks gestation (birth weight 2.56 kg) to non-consanguineous Caucasian parents. Facial dysmorphism included a prominent forehead, brachycephaly, shallow orbits, a high anterior hairline, a narrow nasal bridge and small mouth with a thin upper lip. He had white sclera and was short for height (−4.4 SDS) with a...

Background: Primary de Toni-Debré-Fanconi syndrome is a metabolic disorder characterized by hypophosphatemic rickets or osteomalacia, renal tubular acidosis, renal glycosuria, generalized aminoaciduria. It is a non-FGF23-mediated hypophosphatemic disorder, with primary defect in proximal tubular dysfunction. The orthopaedic sequela of this rare disorder in the literature is scarce.Presenting problem: We present a clinical case of a 10-year-old femal...

Objective: To find whether treatment with cholecalciferol and calcium in a group of vitamin D deficient women is associated with changes in muscular function, musculoskeletal pain, and fatigue.Design: Prospective interventional cohort study.Sample: A study group of 25 post partum women recruited and diagnosed with hypovitaminosis D during pregnancy.Setting: The study group was recruited 2006–2009 at two ...