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1.
间隙连接蛋白(Cx)在保证细胞间物质信息传递及维持皮肤屏障稳态方面发挥着重要作用,其基因突变,甚至表达水平异常均会引起多种疾病,严重影响患者生活质量。在编码人类Cx家族的21个基因中,与Cx基因突变相关的临床伴随疾病至少有14种。其中,Cx43分布最广,不仅在大多数器官组织中均有报道,也是伤口愈合、皮肤角质化,以及皮肤肿瘤发展等重要生理病理过程中的关键调控节点。本文总结了近年来Cx43基因(GJA1)在皮肤屏障中的作用、GJA1基因突变相关皮肤疾病及其潜在致病机制这几个快速发展领域中的研究成果,以期为Cx43临床伴发疾病防治及相关研究提供参考。  相似文献   
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PurposeTRAPPC9 deficiency is an autosomal recessive disorder mainly associated with intellectual disability (ID), microcephaly, and obesity. Previously, TRAPPC9 deficiency has not been associated with biochemical abnormalities.MethodsExome sequencing was performed in 3 individuals with ID and dysmorphic features. N-Glycosylation analyses were performed in the patients’ blood samples to test for possible congenital disorder of glycosylation (CDG). TRAPPC9 gene, TRAPPC9 protein expression, and N-glycosylation markers were assessed in patient fibroblasts. Complementation with wild-type TRAPPC9 and immunofluorescence studies to assess TRAPPC9 expression and localization were performed. The metabolic consequences of TRAPPC9 deficiency were evaluated using tracer metabolomics.ResultsAll 3 patients carried biallelic missense variants in TRAPPC9 and presented with an N-glycosylation defect in blood, consistent with CDG type I. Extensive investigations in patient fibroblasts corroborated TRAPPC9 deficiency and an N-glycosylation defect. Tracer metabolomics revealed global metabolic changes with several affected glycosylation-related metabolites.ConclusionWe identified 3 TRAPPC9 deficient patients presenting with ID, dysmorphic features, and abnormal glycosylation. On the basis of our findings, we propose that TRAPPC9 deficiency could lead to a CDG (TRAPPC9-CDG). The finding of abnormal glycosylation in these patients is highly relevant for diagnosis, further elucidation of the pathophysiology, and management of the disease.  相似文献   
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《Pancreatology》2022,22(2):270-276
Backgroundand purpose: Zinc is an essential element for human health and plays an important role in metabolic, immunological and other biological processes. The present study was conducted to investigate the association between zinc deficiency (ZD) and the perioperative clinical course in patients with pancreatic ductal adenocarcinoma (PDAC).MethodsOf 216 patients with PDAC who underwent elective pancreatectomy between 2013 and 2017 at our institution, 206 patients with sufficient clinical data were retrospectively reviewed. The perioperative variables were compared and the risk factors associated with infectious complications were identified.ResultsZD was preoperatively present in 36 (17.5%) of 206 patients with PDAC. In the patients of the ZD group, a higher proportion of males, higher preoperative modified Glasgow prognostic scores, a higher neutrophil-to-lymphocyte ratio, and a higher occurrence of postoperative infectious complications after pancreatectomy were observed, compared to the non-ZD group. By a univariate analysis, three risk factors were significantly associated with infectious complications after pancreatectomy: ZD (vs non-ZD: p = 0.002), serum albumin <3.5 g/dl (vs ≥ 3.5 g/dl: p = 0.005), and the procedure of pancreaticoduodenectomy (vs others: p = 0.013). By multivariate logistic regression analysis, the occurrence of infectious complications was significantly associated with ZD (OR 3.430, 95%CI 1.570 to 7.490, p = 0.002) and the procedure of pancreaticoduodenectomy (OR 2.030, 95%CI 1.090 to 3.770, p = 0.025).ConclusionsThe current study newly demonstrated that ZD could serve as a preoperative predictor of infectious complications after pancreatectomies in the patients with PDAC.  相似文献   
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[目的] 总结分析裘昌林教授救治重症肌无力危象的中医辨治思路。[方法] 通过跟师学习、整理医案、复习相关中医文献,整理总结裘师临床抢救重症肌无力危象的中医辨治经验,分析重症肌无力危象的中医认识,中医治疗原则和用药方法,并列举医案分析。[结果] 裘师认为,重症肌无力危象病情危重,属于中医大气下陷证,与脾肾密切相关,脾肾虚损为本,甚者脉微息弱、元气耗散而气脱,治疗重在急救脱陷、温肾敛阴,兼顾祛痰通腑,并且研用马钱子起沉疴。所举医案贯彻裘师辨治经验,遣方用药以健脾益气为主,补益肝肾为辅,佐以祛痰通腑,获得较好疗效。[结论] 裘师基于中医病因病机,对重症肌无力危象进行辨证论治,遣方用药从虚出发,随证加减,配合西医治疗,能够提高疗效,减少不良反应,充分体现了中医药治疗重症肌无力危象的优势,其经验具有推广价值。  相似文献   
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Skin infections caused by methicillin-resistant Staphylococcus aureus (MRSA) and the spread of antimicrobial resistance are a major problem in Japan. Here, we investigated the susceptibility of S. aureus clinical isolates to ozenoxacin (OZNX), a topical antimicrobial approved for superficial skin infection treatment in Japan. Susceptibility to OZNX was measured in 110 skin-derived methicillin-susceptible S. aureus (MSSA) and 130 MRSA strains isolated in 2019 and 2020 in Japan. The broth microdilution method was performed, and results were analyzed according to the Clinical and Laboratory Standard Institute (M07 and M100) guidelines. The results were compared with those of other antimicrobials used against S. aureus. The minimum inhibitory concentrations (MIC)90 of OZNX for MSSA and MRSA were 0.12 and 0.25 μg/mL, respectively, indicating that OZNX exhibited the same or stronger antibacterial activity than that of the other antimicrobials tested, such as nadifloxacin, fucidic acid, and gentamicin. No strains exhibited reduced OZNX susceptibility. Notably, a low MIC of OZNX was observed even for strains with reduced susceptibility to nadifloxacin, a similar quinolone-based topical antimicrobial. OZNX is a highly potent antimicrobial used in Japan for superficial skin infections caused by S. aureus, such as impetigo contagiosa and related diseases.  相似文献   
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目的采用数据挖掘方法分析古代方剂中治疗阴虚证方剂的用药规律,为临床以阴虚为基础证候疾病的辨治施药提供参考。方法检索中国中医科学院中医药信息研究所开发的"已上市经典名方数据库",筛选治疗阴虚证的处方,采用古今医案云平台V2.2.3统计用药频次、药物性味归经,并进行层次聚类分析寻找核心组方。采用MATLAB进行中药关联规则分析药物配伍规律。采用Pajek645.13进行复杂网络分析找出核心中药。结果纳入阴虚证处方467首,涉及中药302种,药物四气以寒为主,五味以甘为主,归经以肾经为主,核心中药包括熟地黄、麦冬、生地黄、当归等;常用药对包括山药-熟地黄、山萸肉-熟地黄、茯苓-熟地黄,高频药物可聚类为2类。结论揭示了古代治疗阴虚证以滋阴降火为主,重视补养肾阴的同时亦注重补养肺、肝、脾阴,养阴时常配伍健脾和辛散退热类药物的用药规律,可为临床治疗阴虚证提供参考。  相似文献   
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目的评价益气通脉汤治疗孤立性冠状动脉肌桥心绞痛气虚血瘀证患者的临床疗效。方法将符合入选标准的2016年4月-2020年1月首都医科大学附属北京中医医院64例孤立性冠状动脉肌桥心绞痛气虚血瘀证患者,采用随机数字表法分为2组,每组32人。对照组口服盐酸地尔硫卓片,治疗组在对照组基础上服用自拟益气通脉汤。2组均连续治疗8周。分别于治疗前后进行中医证候评分,采用西雅图心绞痛量表评估患者生活质量及机体功能状态,观察治疗前后平板运动心电图试验情况,记录运动诱发心绞痛需要的时间及平板运动后引起心电图中ST段动态演变的时间;评价心绞痛疗效及中医证候疗效。结果治疗组心绞痛疗效总有效率为84.4%(27/32)、对照组为53.1%(17/32),2组比较差异有统计学意义(χ2=8.09,P<0.05)。治疗后,治疗组西雅图心绞痛量表中躯体活动受限程度[(69.24±14.21)分比(59.42±11.71)分,Z=-2.61]、心绞痛稳定状态[(82.25±21.24)分比(69.11±19.52)分,Z=-2.64]、心绞痛发作情况[(80.24±18.31)分比(69.11±15.54)分,Z=-2.63]、治疗满意程度[(86.16±19.23)分比(61.19±17.35)分,Z=-2.22]、疾病认知程度[(74.41±21.13)分比(60.43±19.42)分,Z=-2.40]评分高于对照组(P<0.05);治疗组运动诱发心绞痛时间[(476.15±62.15)s比(399.38±78.42)s,Z=-2.08]、运动后ST段下移1 mm时间[(394.54±75.61)s比(309.64±81.62)s,Z=-2.40]较对照组延迟(P<0.05)。治疗组中医证候疗效总有效率为93.8%(30/32)、对照组为65.6%(21/32),2组比较差异有统计学意义(χ2=7.96,P<0.05)。治疗组治疗后中医证候积分[(25.15±6.15)分比(36.38±10.42)分,Z=-2.56]低于对照组(P<0.05)。治疗期间,2组均未见明显不良反应。结论益气通脉汤可有效改善孤立性冠状动脉肌桥心绞痛气虚血瘀证患者的临床症状,减少心绞痛发作,延迟运动诱发心绞痛时间,提高临床疗效。  相似文献   
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