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Backgrounds

This study was designed to identify the pathogenic mutations in two Chinese families of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) using the Whole Exome Sequencing (WES).

Methods and results

The proband 1 (Family 1, II:1) and proband 2 (Family 2, II:1) underwent the WES of DNA from peripheral blood. The genes susceptible to arrhythmias and cardiomyopathies were analyzed and both the probands carried the same exonic mutation of DSG2 p.F531C (NM_001943, exon 11: c.T1592G). The proband 1 also carried the splicing mutation of DSG2 (NM_001943: exon 4:c.217-1G>T), and proband 2 carried the intronic mutation of DSG2 (NM_001943: exon 6: c.524-3C>G) that potentially influenced the splicing function predicted by Human Splicing Finder. The compound heterozygous mutations of the two probands inherited from their paternal and maternal side, respectively. The carriers with DSG2 p.F531C showed early abnormal electrocardiograms, characterized as the subclinical phenotype of ARVC/D.

Conclusions

The DSG2 p.F531C was the main reason for ARVC/D. More severe phenotypes of ARVC/D occurred when coexisting with 217-1G>T or 524-3C>G mutation that potentially affecting the splicing function, as a compound heterozygous recessive inheritance.  相似文献   
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目的:比较温针灸结合康复疗法、单纯温针灸与康复疗法治疗膝骨关节炎(OA)的临床疗效.方法:将90例膝OA患者随机分为3组,每组30例,其中针康组,穴取血海、内膝眼、犊鼻、足三里等,行温针灸结合关节体操、等长练习、伸展运动、耐力运动等康复治疗;温针灸组予单纯采用温针灸治疗,康复组单纯行康复疗法.采用关节疼痛量表及膝关节炎...  相似文献   
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《The spine journal》2020,20(11):1850-1860
BACKGROUND CONTEXTIn recent years, autologous platelet-rich plasma (PRP) and bone marrow aspirate concentrate (BMAC) have been used as treatments for disc-related pain. A better understanding of the effects of leukocyte-rich (LR) versus leukocyte poor (LP-) PRP on bone marrow derived human mesenchymal stem/progenitor cells (hMSCs) is likely to improve future research studies, clinical practice and care for patients with chronic discogenic back pain.PURPOSEThe primary aim of this study is to determine the effects of LR-PRP and LP-PRP on the proliferation and migration of hMSCs in pig nucleus pulposus (NP) extracellular matrix (ECM). The secondary aim is to characterize hMSC-dependent expression of the matrix remodeling enzymes metalloproteinases MMP-2, MMP-3, MMP-9 and tissue inhibitor of metalloproteinases TIMP-2, and to determine whether transplanted hMSCs can synthesize hyaluronic acid (HA).STUDY DESIGNControlled laboratory study.METHODSBone marrow-derived culture expanded hMSCs were seeded onto pig NP and cultured with LR-PRP, LP-PRP or serum/platelet releasate (PR). The same conditions without hMSCs were used as controls. hMSC proliferation, migration and dispersion was assessed via fluorescent microscopy, while HA synthesis, MMP-2, MMP-3, MMP-9, and TIMP-2 protein levels were assessed via enzyme linked immunosorbent assay. All funding was provided by a 501c(3) research foundation and does not have any commercial or sponsorship interests.RESULTSLP-PRP and PR cultures resulted in higher hMSC proliferation, migration, dispersion, and MMP-2 expression. LP-PRP cultures resulted in the highest HA production. LR-PRP cultures resulted in lower hMSC proliferation, negligible migration and dispersion, increased MMP-9 expression and lower HA production.CONCLUSIONSHuman bone marrow-derived hMSCs seeded onto pig NP ECM are capable of synthesizing HA, indicating a transition towards a NP cell phenotype. This process was most enhanced by LP-PRP and marked by increased hMSC proliferation, MMP-2 production, HA synthesis and reduced MMP-9 levels.CLINICAL SIGNIFICANCELP-PRP and PR, with or without hMSCs, may provide better outcomes than LR-PRP in lab investigations and clinical trials for discogenic pain. Bone marrow-derived hMSCs may hold promise as a treatment for disc degeneration.  相似文献   
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目的:本研究旨在分析Ⅲ-pN2期非小细胞肺癌患者术后化疗后局部复发的高危因素,并依据术后复发部位及频率为该类肺癌术后放疗范围提供参考。方法:回顾性分析2013年1月至2016年12月我院105例术后病理证实为Ⅲ-pN2期NSCLC患者的临床资料,分析其局部复发的影响因素,并分析以不同肺叶原发灶及病理证实不同阳性淋巴结区域为基础术后化疗后的局部复发模式。结果:多因素分析显示PN2站数(P=0.004)、分化程度(P=0.012)、LN阳性率>1/3(P=0.030)及年龄>55岁(P=0.049)是局部复发的独立预测因素。本研究中50例患者术后出现局部复发(首发或累积),最常见的复发部位依次为同侧肺门(20.0%)、残端(19.0%)、LNs4R(18.1%)、LNs4L(17.1%)、LNs7(15.2%);不同肺叶局部复发情况不同,大部分右侧肿瘤以同侧复发为主,而左侧肿瘤多累及对侧纵隔,尤其是LNs4R(15.8%)。大多数患者(76.0%)局部复发时伴远处转移。结论:建议考虑Ⅲ-pN2NSCLC患者的PORTCTV时应根据原发肿瘤所处左、右侧不同肺叶来设计。除支气管残端、同侧肺门及阳性LNs外,左肺PORTCTV常规包括LNs4、LNs7、LNs5及LNs6,右肺PORTCTV常规包括LNs4R及LNs7。  相似文献   
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Background:Intrahepatic cholestasis of pregnancy (ICP) is a common complication in the third trimester of pregnancy, which may result in premature delivery, fetal distress, stillbirth, and other adverse pregnancy outcomes. Ursodeoxycholic acid (UDCA) is a first-line treatment for ICP and has been controversial in improving adverse pregnancy outcomes. The purpose of this protocol is to systematically evaluate the effect of UDCA on pregnancy outcomes in patients with intrahepatic cholestasis during pregnancy.Methods:To search the databases PubMed, Embase, Web of Science, the Cochrane Library, CNKI, WanFang, VIP, CBMDIsc by computer, then to include randomized controlled clinical studies on UDCA for treatment of intrahepatic cholestasis during pregnancy from the establishment of the database to October 1, 2020. Two researchers independently extract and evaluate the data of the included studies, and meta-analysis is conducted on the included literatures using RevMan5.3 software.Results:This protocol evaluates the outcome of UDCA in improving ICP by incidence of postpartum hemorrhage in pregnant women preterm birth rates meconium contamination rate in amniotic fluid incidence of fetal distress scale of newborns scoring <7 in 5-min Apgar incidence of neonatal admission to neonatal intensive care unit.Conclusion:This protocol will provide an evidence-based basis for clinical use of UDCA in the treatment of intrahepatic cholestasis during pregnancy.Ethics and dissemination:Private information from individuals will not be published. This systematic review also does not involve endangering participant rights. Ethical approval was not required. The results may be published in a peer-reviewed journal or disseminated at relevant conferences.OSF Registration number:DOI 10.17605 / OSF.IO / BE67H.  相似文献   
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摘要 目的 了解医院CSSD压力蒸汽灭菌器蒸汽供水现状,为改善蒸汽供水质量提供参考依据。方法 通过相关微信网络平台,发布问卷调查的方式,对国内部分医院CSSD大型压力蒸汽灭菌器蒸汽供水现状进行调查与分析。结果 统计分析了国内2 583家医院调查问卷发现,国内医院大型压力蒸汽灭菌器使用外接蒸汽源占32.33%,其余使用蒸汽发生器。所用蒸汽发生器及其管道均为不锈钢,管道长度以<20 m为主。外接蒸汽供给水中,软水占60.6%,纯化水仅为0.96%。蒸汽发生器供给水中,纯化水占43.02%,其他还有去离子水、软水、自来水等。结论 医院压力蒸汽灭菌器蒸汽供水中,不合格用水占比较高,推荐使用纯化水除气后供给蒸汽用水。  相似文献   
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