ghostdoor7
ghostdoor7
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Isuikwuato, Sokoto, Nigeria
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Future studies can use muscle quality or body fat classification to predict obesity in older adults, which could more precisely portray the relationship between obesity and health-related physical fitness performance. Collagen VI-related dystrophies are a subtype of congenital muscular dystrophy caused by pathogenic variants in COL6A1, COL6A2 or COL6A3 genes affecting skeletal muscles and connective tissue. The clinical phenotype ranges from the milder Bethlem myopathy to the severe Ullrich congenital muscular dystrophy (UCMD). Herein, we report the first consanguineous Sri Lankan family with two children affected with UCMD due to a novel variant in the COL6A1 gene. Two sisters, aged 10-years and 7-years, presented with progressive, bilateral proximal muscle weakness. Both probands had delayed motor milestones and demonstrated difficulty in standing from a squatting position, climbing stairs and raising arms above the shoulders. Cognitive, language and social development were age appropriate. Examination showed proximal muscle weakness of the upper and lower extremities and hyperlaxity of the wrist and fingers in both with some variability in clinical severity noted between the two siblings. Serum creatine kinase levels were elevated, and electromyography showed low polyphasic motor unit potentials in the 10-year-old and myopathic features with short duration motor unit potentials with no polyphasia in the 7-year-old. Whole exome sequencing (WES) was performed and a novel, homozygous missense, likely pathogenic variant in exon 25 of COL6A1 gene [NM_001848 c.1667G > T;NP_001839.2p.Gly556Val] was identified in both probands. This variant was validated by Sanger sequencing in proband 1 as well as proband 2, and the parents and an unaffected sibling were found to be heterozygote carriers for the same variant. The findings in this family add to the expanding number of COL6A1 variants identified and provides a better understanding of the genotype-phenotype correlations associated with UCMD.The findings in this family add to the expanding number of COL6A1 variants identified and provides a better understanding of the genotype-phenotype correlations associated with UCMD. Iran's population is aging. Disability is a major public health problem for older adults, not only in Iran but all over the world. The purpose of this study was to investigate the relationship between cardio-metabolic and socio-demographic risk factors and disability in people 60 years and older in Iran. The baseline (cross-sectional) data of 2426 samples from the Bushehr Elderly Health (BEH) program was included in the analysis. Gedatolisib The participants were selected through multi-stage random sampling in Bushehr, southern Iran. Socio-demographic characteristics, as well as the history of diabetes and other chronic diseases, and smoking were measured using standardized questionnaires. Anthropometric measurements and laboratory tests were performed under standard conditions. Dependency was determined by the questionnaires of basic activities of daily living (BADL) and instrumental activities of daily living (IADL) using Barthel and Lawton scales respectively. Multiple logistic regression was used in the analysis.tus, avoiding smoking, and reducing daily calorie intake. Older adults, especially those with physical and social complexities are at risk of hospital-associated deconditioning. Hospital-associated deconditioning is linked to increased length of stay in hospital, stress, and readmission rates. To date, there is a paucity of research on the experiences and implications of deconditioning in hospital from different perspectives. Therefore, the objectives of this exploratory, descriptive qualitative study were to explore hospital-associated deconditioning from the views of different stakeholders and to develop an understanding of deconditioning from physical, social, and cognitive perspectives. Between August 2018 and July 2019, in-depth, semi-structured interviews were conducted with patients 50 years or older, who had a hip fracture or delay in discharge, as well as caregivers, providers, and decision-makers who provided support or impacted care processes for these patients. Participants were recruited from one urban and one rural health region located in Ontario,al function and well-being throughout hospitalization; (2) redesigning hospital environments (e.g., create social spaces); and (3) increasing access to rehabilitation during acute hospital stays, while patients wait for the next point-of-care.Participants described a substantial lack of physical, cognitive, and social activities, which led to deconditioning. Recommendations to address deconditioning include (1) measuring physical/psychological function and well-being throughout hospitalization; (2) redesigning hospital environments (e.g., create social spaces); and (3) increasing access to rehabilitation during acute hospital stays, while patients wait for the next point-of-care. Toexplore the correlation between the volume of putamen and brain cognitive impairment in patients with HIV and to predict the feasibility of early-stage HIV brain cognitive impairment through radiomics. Retrospective selection of 90 patients with HIV infection, including 36 asymptomatic neurocognitive impairment (ANI) patients and 54 pre-clinical ANI patients in Beijing YouAn Hospital. All patients received comprehensive neuropsychological assessment and MRI scanning. 3D Slicer software was used to acquire volume of interest (VOI) and radiomics features. Clinical variables and volume of putamen were compared between patients with ANI and pre-clinical ANI. The Kruskal Wallis test was used to analysis multiple comparisons between groups. The relationship between cognitive scores and VOI was compared using linear regression. For radiomics, principal component analysis (PCA) was used to reduce model overfitting and calculations and then a support vector machine (SVM) was used to build a binary classification volume of the putamen may have a certain process; there is a relationship between putamen and cognitive impairment, but the exact mechanism is unclear. Radiomics may be a useful tool for predicting early stage HAND in patients with HIV.The volumes of putamen in patients with ANI may be larger than patients with pre-clinical ANI, the change of the volume of the putamen may have a certain process; there is a relationship between putamen and cognitive impairment, but the exact mechanism is unclear. Radiomics may be a useful tool for predicting early stage HAND in patients with HIV.

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