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Although skeletal muscle plays a crucial role in metabolism and influences aging and chronic diseases, little is known about the genetic variations with skeletal muscle, especially in the Asian population. We performed a genome-wide association study in 2,046 participants drawn from a population-based study. Appendicular skeletal muscle mass was estimated based on appendicular lean soft tissue measured with a multi-frequency bioelectrical impedance analyzer and divided by height squared to derive the skeletal muscle index (SMI). After conducting quality control and imputing the genotypes, we analyzed 6,391,983 autosomal SNPs. A genome-wide significant association was found for the intronic variant rs138684936 in the NEB and RIF1 genes (β = 0.217, p = 6.83 × 10–9). These two genes are next to each other and are partially overlapped on chr2q23. We conducted extensive functional annotations to gain insight into the directional biological implication of significant genetic variants. A gene-based analysis identified the significant TNFSF9 gene and confirmed the suggestive association of the NEB gene. Pathway analyses showed the significant association of regulation of multicellular organism growth gene-set and the suggestive associations of pathways related to skeletal system development or skeleton morphogenesis with SMI. In conclusion, we identified a new genetic locus on chromosome 2 for SMI with genome-wide significance. These results enhance the biological understanding of skeletal muscle mass and provide specific leads for functional experiments. [ABSTRACT FROM AUTHOR]

The harmful effects of excessive mechanical loading on diabetic neuropathy and the reason diabetic neuropathic symptoms are common in feet are unclear. In this study, the hind paw suspension treadmill exercise model was used in rats to investigate whether mechanical loading applied to the front paws precipitates neuropathic pain, especially in diabetic conditions. Thirty-two rats were divided into six groups according to the presence of diabetes (DM) and the intensity of mechanical loading applied to the front paws: DM-Hi (high-intensity); DM-Lo (low-intensity); DM-No (non-mechanical loading); Sham-Hi; Sham-Lo; and Sham-No. DM was induced by streptozotocin injection. For high-intensity or low-intensity mechanical loading, treadmill walking exercise was conducted with or without hind paw suspension, respectively. The mechanical withdrawal threshold of the front paw decreased significantly after 8 weeks only in the DM mechanical loading groups (DM-Hi and DM-Lo), and high-intensity loading more significantly decreased the front-paw withdrawal threshold than low-intensity loading. In the DM-Hi group only, macrophage migration inhibitory factor (MIF) increased significantly, and intra-epidermal nerve fibers (IENF) in the front paws decreased significantly. In diabetic conditions, mechanical overloading such as excessive walking is likely to precipitate mechanical allodynia and damage IENF¸ which could explain why diabetic neuropathic symptoms are common in feet. This finding might be related to up-regulation of intracellular signaling cascades such as MIF, rather than inflammatory processes. [ABSTRACT FROM AUTHOR]

The purposes were to calculate total voxel volume of the entire capsulo-synovial enhanced portion on contrast-enhanced (CE) MRI in adhesive capsulitis, and to investigate its association with glenohumeral joint volume and passive range of motions (ROMs), which are a well-known diagnostic reference standard and clinical hallmark of this condition. Medical records of 169 consecutive patients who underwent ultrasound-guided intraarticular injection with adhesive capsulitis and CE-MRI to exclude other mimicking shoulder diseases were retrospectively reviewed. To calculate total voxel volume of entire capsulo-synovial enhanced portion on CE-MRI, voxel-based 3-dimensional (3D) segmentation was obtained semi-automatically using Fiji, an open-source image processing software. Pearson's correlation coefficients were analyzed. Sixty patients who met eligibility criteria were included. Total voxel volume showed a significant inverse correlation with the glenohumeral joint volume (r = −0.528, P < 0.001), forward elevation, external rotation, and abduction (r = −0.407, P = 0.001; r = −0.342, P = 0.007; r = −0.275, P = 0.034, respectively). Intra-observer and inter-observer reliabilities, measured by intraclass correlation coefficients (ICC), were excellent (ICC = 0.87 and 0.77, respectively). This study's results indicate that voxel-based 3D segmentation of entire capsulo-synovial enhanced portion from CE-MRI can represent the severity of clinical impairments, such as obliterated joint volume and limited passive ROMs in adhesive capsulitis. [ABSTRACT FROM AUTHOR]

In contrast to obesity, studies on the relationship between underweight and pulmonary function are still sparse. Thus, the objective of this study was to investigate the effect of being underweight on pulmonary function in a general population without apparent lung disease. A total of 282,135 retrospective cohort subjects between January 2012 and December 2014 in Korea were included. Using multivariate-adjusted analysis, the relationship between body mass index (BMI) and pulmonary function were assessed. Underweight individuals represented 5.5% of the total study population (n = 282,135), with most (87.9%) of them being females. Compare to normal weight and obese, underweight was associated with decreased pulmonary function. Forced expiratory volume in first second (FEV1), predicted FEV1 (%), forced vital capacity (FVC), predicted FVC (%), and peak expiratory flow (PEF) were lower in the underweight group than those in other groups after adjusting for age, sex, height, status of smoking, frequency of vigorous exercise, diabetes, and high-sensitivity C-reactive protein (hsCRP) (P < 0.001). Lower BMI tended to decrease pulmonary function parameters such as FEV1 (L), predicted FEV1 (%), FVC (L), predicted FVC (%), and PEF (L/sec) (P for trend <0.001). After adjusting for possible confounders, odds ratios (ORs; 95% confidence interval) for subjects with predicted FEV1% < 80% in underweight and normal weight groups compared to obese group (reference) were 2.10 (1.98–2.21), and 0.93 (0.90–0.97), respectively. ORs for subjects with predicted FVC% < 80% in underweight and normal weight groups compared to obese group (reference) were 4.90 (4.62–5.18) and 1.32 (1.27–1.38), respectively. This study demonstrated a proportional relationship between pulmonary function and the degree of BMI. We found that underweight status was independently associated with decreased pulmonary function in Korean population. [ABSTRACT FROM AUTHOR]