Bone Tissue Evaluation Indicates Abnormal Mineralization in Patients with Autoimmune Polyendocrine Syndrome Type I: Report on Three Cases
AbstractAutoimmune polyendocrine syndrome type-1 (APS1) is characterized by autoimmune manifestations affecting different organs from early childhood on. Immunological abnormalities, the resulting endocrinopathies, and their treatments may compromise bone health. For the first time in APS1, we analyzed transiliac bone biopsy samples by bone histomorphometry and quantitative backscattered electron imaging in three adult patients (female P1, 38 Â years; male P2, 47Â years; male P3, 25Â years). All had biallelic mutations in the autoimmune regulator gene and in addition to endocrinopathies, also significant bone fragility. Hi...
Source: Calcified Tissue International - March 22, 2023 Category: Orthopaedics Source Type: research
Spondyloarthritis and Sarcopenia: Prevalence of Probable Sarcopenia and its Impact on Disease Burden: The Saspar Study
AbstractTo evaluate the prevalence of probable, confirmed, and severe sarcopenia in spondyloarthritis (SpA), according to theEuropean Working Group on Sarcopenia in Older People 2019 (EWGSOP2) definition. A total of 103 patients (51% women) with SpA, mean age 47.1  ± 13.7 years, were included and compared to 103 age- and sex-matched controls. Grip strength was measured by dynamometry. Body composition was assessed by whole-body densitometry. In SpA patients gait speed was measured by the 4-m-distance walk test and quality of life was evaluated with a sp ecific health-related questionnaire for sarcopenia (SaRQoL®). T...
Source: Calcified Tissue International - March 21, 2023 Category: Orthopaedics Source Type: research
Vitamin D-Dependent Rickets Type 3: A Case Report and Systematic Review
AbstractAlthough vitamin D deficiency resulting from insufficient sunlight exposure or inadequate dietary vitamin D intake is the most common cause of rickets, mutations in genes involved in vitamin D metabolism can cause genetic forms of rickets termed Vitamin D-Dependent Rickets (VDDR). In 2018, Roizen et al. described a new type of VDDR, named VDDR3, caused by a recurrent missense mutation in theCYP3A4 gene  that leads to accelerated inactivation of vitamin D metabolites. Here, we describe the third case of VDDR3 due to the sameCYP3A4 mutation in a 2-year-old boy with bone deformities associated with poor growth. As ...
Source: Calcified Tissue International - March 19, 2023 Category: Orthopaedics Source Type: research
Advancing Use of DEXA Scans to Quantitatively and Qualitatively Evaluate Lateral Spinal Curves, for Preliminary Identification of Adolescent Idiopathic Scoliosis
AbstractDual-energy X-ray absorptiometry (DEXA) scan is an emerging screening method for identifying likely adolescent idiopathic scoliosis (AIS). Using DEXA in an unbiased population sample (the Raine Study), we aimed to report the inter-rater reliability and minimal detectable change (MDC95) for scoliosis curve angle measurement, identify likely AIS prevalence, and the concordance between reported AIS diagnosis and DEXA-identified likely AIS. Scoliosis curve angles were measured using the modified Ferguson method on DEXA scans (n = 1238) at age 20 years. For curve angle inter-rater reliability, two examiners measure...
Source: Calcified Tissue International - March 13, 2023 Category: Orthopaedics Source Type: research
Association of Polypharmacy and Anticholinergic Burden with Length of Stay in Hospital Amongst Older Adults Admitted with Hip Fractures: A Retrospective Observational Study
ConclusionsAnticholinergic agents and polypharmacy in patients with hip fractures are associated with longer LOS in hospital, further accentuated by failure to mobilise within 1-day after surgery and pressure ulcers. This study provides further evidence of the impact of polypharmacy, including those with an ACB, on adverse health outcomes and lends support to reduce potentially inappropriate prescribing. (Source: Calcified Tissue International)
Source: Calcified Tissue International - March 11, 2023 Category: Orthopaedics Source Type: research
Urotensin II can Induce Skeletal Muscle Atrophy Associated with Upregulating Ubiquitin –Proteasome System and Inhibiting the Differentiation of Satellite Cells in CRF Mice
AbstractSkeletal muscle wasting and atrophy is highly prevalent in chronic renal failure (CRF) and increases the risk of mortality. According to our previous study, we speculate that urotensin II (UII) can induce skeletal muscle atrophy by upregulating ubiquitin –proteasome system(UPS) in CRF. C2C12 mouse myoblast cells were differentiated into myotubes, and myotubes were exposed to different concentrations of UII. Myotube diameters, myosin heavy chain(MHC), p-Fxo03A, skeletal muscle-specific E3 ubiquitin ligases such as muscle RING finger 1 (MuRF1) and m uscle atrophy F-box (MAFbx/atrogin1) were detected. Three animal m...
Source: Calcified Tissue International - March 9, 2023 Category: Orthopaedics Source Type: research
Metabolome-Wide Mendelian Randomization Assessing the Causal Relationship Between Blood Metabolites and Bone Mineral Density
This study identified some metabolites causally related to BMD at distinct sites and several key metabolic pathways, which shed light on predictive biomarkers and drug targets for OP. (Source: Calcified Tissue International)
Source: Calcified Tissue International - March 6, 2023 Category: Orthopaedics Source Type: research
Mitigating the Denosumab-Induced Rebound Phenomenon with Alternating Short- and Long-Acting Anti-resorptive Therapy in a Young Boy with Severe OI Type VI
We describe a boy with severe OI type VI who was initially treated with intravenous (IV) zoledronic acid (ZA) at 1.4  years of age; however, a year later he transitioned to denosumab 1 mg/kg sub-cutaneously every three months in an effort to decrease fracture rates. After two years on denosumab, he presented with symptomatic hypercalcemia due to the denosumab-induced, hyper-resorptive rebound phenomenon. Laborat ory parameters at the time of the rebound were as follows: elevated serum ionized calcium (1.62 mmol/L,N 1.16 –1.36), elevated serum creatinine due to hypercalcemia-induced muscle catabolism (83 µmol/L,N 9 â...
Source: Calcified Tissue International - March 3, 2023 Category: Orthopaedics Source Type: research
Cross-Calibration of iDXA and pQCT Scanners at Rural and Urban Research Sites in The Gambia, West Africa
AbstractBetween-scanner differences in measures of bone and body composition can obscure or exaggerate physiological differences in multi-site studies or the magnitude of changes in longitudinal studies. We conducted a cross-calibration study at two bone imaging centres in The Gambia, West Africa where DXA (dual-energy X-ray absorptiometry) and pQCT (peripheral Quantitative-Computed Tomography) are routinely used. Repeat scans were obtained from 64 Gambian adults (58% Male) aged Mean(SD) 30.9 (13.5) years with Mean(SD) body mass index (BMI) 21.7 (4.0) kg/m2, using DXA (GE Lunar iDXA, whole body [WB], total hip [TH], lumbar...
Source: Calcified Tissue International - March 2, 2023 Category: Orthopaedics Source Type: research
