The goal of the study was to investigate the possibility of an association between polymorphisms and single alleles of BsmI, ApaI, TaqI of the vitamin D receptor (VDR) gene with bone mineral density (BMD) and prevalence of vertebral/non-vertebral fractures in a group of postmenopausal Polish women with osteoporosis. The study group comprised of 501 postmenopausal females with osteoporosis (mean age 66.4 ± 8.9), who were diagnosed on the basis of either the WHO criteria or self-reported history of low-energy fractures. The three polymorphisms were determined by PCR (polymerase chain reaction) and RFLP (restriction fragment length polymorphism). BMD at the lumbar spine and femoral neck was assessed by dual energy X-ray absorptiometry (DXA). 285 fractures were reported in the whole group (168 vertebral and 117 non-vertebral). Incidence of non-vertebral fractures was significantly higher in the carriers of single alleles a of ApaI, b of BsmI and T of TaqI VDR gene polymorphisms (p = 0.021, 0.032, 0.020, respectively). No significant associations between allelic variants of the studied polymorphisms and BMD or fracture incidence were found. (1).The presence of single alleles a,b and T of ApaI, BsmI, TaqI VDR gene polymorphisms respectively, might serve as an indicator of non-vertebral fractures. (2). Lack of association between the VDR gene polymorphisms and BMD suggests that VDR contributes to low-energy fractures also through other ways.

Associations of the FokI, BsmI, ApaI, and TaqI polymorphisms of the vitamin D receptor (VDR) gene with the bone mineral density (BMD) of the lumbar part of the spinal column (BMD LS) and the neck of the femur (BMD FN), and with the occurrence of fractures, were studied using the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis on DNA isolated from peripheral blood of 239 women and 40 men from the region of western Poland. Three polymorphisms of the 3' end of the VDR gene (BsmI, ApaI, TaqI) indicated a strong linkage disequilibrium. Association analysis of the VDR gene FokI polymorphism with BMD LS showed a dose effect of allele f. The association of the bAT haplotype of the BsmI, ApaI, and TaqI polymorphisms of the VDR gene with BMD FN was statistically significant. The association of the ApaI polymorphism with the occurrence of fractures was observed. Associations were also observed between the occurrence of fractures and the baT haplotypes of the VDR gene.

Azure DocumentDB is Microsoft's multi-tenant distributed database service for managing JSON documents at Internet scale. DocumentDB is now generally available to Azure developers. In this paper, we describe the DocumentDB indexing subsystem. DocumentDB indexing enables automatic indexing of documents without requiring a schema or secondary indices. Uniquely, DocumentDB provides real-time consistent queries in the face of very high rates of document updates. As a multi-tenant service, DocumentDB is designed to operate within extremely frugal resource budgets while providing predictable performance and robust resource isolation to its tenants. This paper describes the DocumentDB capabilities, including document representation, query language, document indexing approach, core index support, and early production experiences.

Purpose The aim of the study was to compare two measurement methods of humeral head defects in patients with shoulder instability. Intra- and inter-observer reliability of humeral head parameters were performed with the use of 2D and 3D computed tomography. Methods The study group was composed of one hundred humeral heads measured with the use of preoperative 2D and 3D computed tomography by three independent observers (two experienced and one inexperienced). All observers repeated measurements after 1 week. The intra-class correlation coefficient (ICC) and the minimal detectable change with 95% confidence (MDC95%) were used for statistical analysis of diagnostic agreement. Results For 3D inter-observer reliability, ICC values were “excellent” for all parameters and MDC95% values were “excellent” or “reasonable.” All intra-observer ICC and MDC95% values for 3D were “excellent” for experienced and inexperienced observers. For 2D-CT, ICC values were usually “good” or “moderate” with MDC95% values higher than 10 or 30%. Conclusions Three-dimensional CT measurements are more reliable than 2D for humeral head and Hill-Sachs lesion assessment. This study showed that 2D measurements, even performed by experienced observers (orthopaedic surgeons), are burdened with errors. The 3D reconstruction decreased the risk of error by eliminating inaccuracy in setting the plane of the measurements.

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Gastrointestinal tract conditions are frequently associated with low bone mineral density and increased risk of fractures due to osteoporosis, the latter concerning particularly inflammatory bowel disease (IBD) patients. One of the candidate genes involved in osteoporosis is the transforming growth factor beta-1 (TGFB1) whose polymorphisms may be responsible for the development of this disease. The aim of this study was to analyse the frequency of TGFB1 polymorphic variants and determine the association between the c.29T>C TGFB1 polymorphism, and bone mineral density and fractures in IBD patients. The study subjects included 198 IBD patients [100 suffering from Crohn's disease (CD) and 98 from ulcerative colitis (UC)] and 41 healthy volunteers as a control group. Densitometric bone measurements were obtained using dual energy X-ray absorptiometry. The TGFB1 genotyping was conducted using restriction fragments length polymorphism. We conducted an analysis of genotype distribution's concordance with Hardy-Weinberg equilibrium. We found statistically significant differences in lumbar spine (L2-L4) and femoral neck BMD and T-scores between CD, UC and control subgroups. The distribution of TGFB1 polymorphic variants among CD and UC patients was concordant with Hardy-Weinberg equilibrium. There were no statistically significant differences in densitometric parameters (lumbar spine and femoral neck BMD, T-score, and Z-score) between carriers of different TGFB1 polymorphisms among IBD (CD and UC) patients nor among controls. We have found no statistically significant differences in the prevalence of low-energy fractures between groups of different TGFB1 polymorphic variant carriers. The allele dose effect, recessive effect and dominant effect analysis did not show an association between low-energy fractures and the TGFB1 polymorphisms among CD and UC patients. We have not observed an association between the c.29T>C TGFB1 polymorphic variant and the bone mineral density within the cancellous and cortical bones (L2-L4 and femoral neck, respectively), or the occurrence of fractures among the IBD patients and their family members.

Introduction Shoulder neuroarthropathy is a rare joint degeneration mostly related to syringomyelia. An X-ray is a basic tool to stage the advancement of shoulder destruction in shoulder neuroarthropathy. Aim We aimed to create and verify the reliability of our own radiographic classification of shoulder degeneration (NGH) and to correlate it with clinical features. Material and methods The study included 39 cases (45 shoulders with neuroarthropathy secondary to syringomyelia) collected from a systematic literature review and our own pooled series of 10 cases. We found 34 papers, all being case reports or case series. Inclusion criteria were an X-ray in two projections and the availability of clinical data. Our NGH classification was as follows: for glenoid (G) and head (H), three stages were distinguished: G0/H0, no X-ray changes; G1/H1, partial degeneration; and G2/H2, total degeneration. Results The statistical analysis showed almost perfect agreement between the evaluators for the humeral head and glenoid in both measurements and almost perfect compatibility. The majority of patients had total head degeneration without correlation with a range of motion. The glenoid condition was various and had no statistical influence on shoulder function. Both the G and H stages had an impact on the incidence of swelling and weakness. Conclusions These findings indicate that our NGH classification is highly reliable for staging shoulder degeneration related to syringomyelia. The classification seemed to correlate with the clinical condition partly. Under this system, patients with stages G0 and G1 can still qualify for reverse shoulder arthroplasty.

The coexistence of glenoid and humeral head bone defects may increase the risk of recurrence of instability after soft tissue repair. Revealed factors in medical history such as male gender, younger age of dislocation, an increasing number of dislocations, contact sports, and manual work or epilepsy may increase the recurrence rate of instability. In physical examination, positive bony apprehension test, catching and crepitations in shoulder movement may suggest osseous deficiency. Anteroposterior and axial views allow for the detection of particular bony lesions in patients with recurrent anterior shoulder instability. Computed Tomography (CT) with multiplanar reconstruction (MPR) and various types of 3D rendering in 2D (quasi-3D-CT) and 3D (true-3D-CT) space allows not only detection of glenoid and humeral bone defects but most of all their quantification and relations (engaging/not-engaging and on-track/off-track) in the context of bipolar lesion. Magnetic resonance imaging (MRI) is increasingly developing and can provide an equally accurate measurement tool for bone assessment, avoiding radiation exposure for the patient. Cite this article: EFORT Open Rev 2020;5:815-827. DOI: 10.1302/2058-5241.5.200049