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Background Autosomal recessive polycystic kidney disease (ARPKD) is an autosomal recessive hepatorenal fibrocystic syndrome. The majority of ARPKD patients progress to end-stage renal disease. Precise molecular diagnosis of ARPKD has proven valuable for understanding its mechanism and selecting optimal therapy. Methods A Chinese family with ARPKD was recruited in current study. The clinical characteristics of ARPKD patient were collected from medical records and the potential responsible genes were studied by the whole exome sequencing (WES). Candidate pathogenic variants were validated by Sanger sequencing. Results Both renal manifestation and hepatobiliary phenotype were observed. WES revealed compound heterozygous mutations of polycystic kidney and hepatic disease 1 genes, NM_138694 c.751G>T, (p.Asp251Tyr) and c.3998_4004delACCTGAA (p.Asn1333Thr fs × 13), which were confirmed by Sanger sequencing. Moreover, the mutations in the proband and its affected sib were co-segregated with the phenotype. Conclusions The novel mutation in polycystic kidney and hepatic disease 1 gene identified by WES might be molecular pathogenic basis of this disorder.Background Canaloplasty has been reported to manage primary open-angle glaucoma (POAG) effectively. However, no study has specifically and systematically investigated the efficacy and safety of canaloplasty for the treatment of POAG. Thus, this study will systematically and comprehensively appraise the efficacy and safety of canaloplasty for the treatment of POAG. Methods MEDLINE, EMBASE, Cochrane Library, Web of Science, Cumulative Index to Nursing and Allied Health Literature, Allied and Complementary Medicine Database, Chinese Biomedical Literature Database, and China National Knowledge Infrastructure will be sought from the construction to the February 29, 2020. Only randomized controlled trials (RCTs) focusing on canaloplasty for the treatment of POAG will be included. Two reviewers will independently undertake selection of study, data extraction, and risk of bias assessment. Any doubts between 2 reviewers will be resolved through discussion with another experienced reviewer. RevMan 5.3 software will be employed for data analysis. Results This study will summarize high-quality RCTs on investigating efficacy and safety of canaloplasty for the treatment of POAG. https://www.selleckchem.com/products/Eloxatin.html Conclusion The findings of this study will help to determine whether canaloplasty is effective and safety for the treatment of POAG.Systematic review registration INPLASY202040119.Background The study aims to evaluate the effectiveness and safety of acupuncture therapy for coronavirus disease 2019. Methods The following electronic databases will be searched from December 2019 to December 2020 Medline, PubMed, EMBASE, Web of Science, China National Knowledge Infrastructure, Wan-fang database, Chinese Scientific Journal Database, Chinese Biomedical Literature Databases, and other databases. All published randomized controlled trials about this topic will be included. Two independent researchers will operate article retrieval, duplication removing, screening, quality evaluation, and data analyses by Review Manager (V.5.3.5). Meta-analyses, subgroup analysis, and/or descriptive analysis will be performed based on the included data conditions. Results High-quality synthesis and/or descriptive analysis of current evidence will be provided from mortality rate, cure rate, the time of negative nucleic acid detection for 2 consecutive times (not on the same day), improvement of chest CT scans, disappearance time of fever and cough, and side effects. Conclusion This study will provide the evidence of whether acupuncture is an effective and safe intervention for coronavirus disease 2019 .PROSPERO registration number CRD42020179298.Background Structural and functional changes in subchondral bone have been recognized as a key factor in the development of related disease, and subchondral bone may be a new target for the treatment of osteoarthritis. The purpose of our present study is to investigate the global status and trends of subchondral bone research. Method Publications related to the studies of subchondral bone from 1993 to 2018 were retrieved from the Science Citation Index-Expanded Web of Science database. The data source was studied and indexed by using bibliometric methodology. For visualized study, bibliographic coupling analysis, co-authorship analysis, co-citation analysis, co-occurrence analysis and the analysis of publication trends in subchondral bone research were conducted by VOS viewer and GraphPadPrism 5 software. Results A total of 4780 publications were included. There is an increasing trend of the relative research interests and number of publications per year globally. The cumulative number of publications about slinical treatments for osteoarthritis and other related diseases based on subchondral bone.Cytokeratin 18 (CK18) and fibroblast growth factor 21 (FGF21) are elevated in patients with nonalcoholic fatty liver disease (NAFLD) and are useful markers for identifying or monitoring outcomes. Exercise therapy is one of the established treatments for NAFLD; however, few studies have investigated the effectiveness of exercise therapy on CK18 and FGF21 levels. Therefore, the aim of the present study was to assess the effects of 12 weeks of simple resistance exercise on CK18 and FGF21 levels in patients with NAFLD.Fifty patients with NAFLD were assigned to a resistance exercise group (n = 23) or a control group (n = 27) for a trial period of 12 weeks. During the study, the resistance exercise group performed two exercises (push-ups and squats) three times a week on nonconsecutive days, whereas the control group proceeded with regular physical activities under a restricted diet. We then compared serum levels of CK18 fragments (M65) and FGF21 between groups just before and after the 12-week period.Serum M65 levels (880.0 ± 503.6 vs 648.9 ± 450.2 U/L; P less then .01) were significantly decreased in the exercise group. However, no significant differences were observed in body mass index or skeletal muscle. The decreases in serum M65 (-231.1 ± 354.7 vs 56.2 ± 375.0 U/L; P = .02), and FGF21 levels (-41.7 ± 98.2 vs. 33.2 ± 127.6 pg/mL; P = .03) were significantly greater in the exercise than in the control group. Changes in M65 levels in the exercise group were significantly correlated with changes in alanine aminotransferase levels (r = 0.618, P less then .01).Simple resistance exercise reduced CK18 and FGF21 levels in patients with NAFLD. These findings suggest that resistance exercise consisting of push-ups and squats helps prevent the progression of NAFLD.
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