简介:AbstractBackground:Maturity-onset diabetes of the young (MODY) is the most common monogenic diabetes. The aim of this study was to assess the prevalence of MODY in phenotypic type 2 diabetes (T2DM) among Chinese young adults.Methods:From April 2015 to October 2017, this cross-sectional study involved 2429 consecutive patients from 46 hospitals in China, newly diagnosed between 15 years and 45 years, with T2DM phenotype and negative for standardized glutamic acid decarboxylase antibody at the core laboratory. Sequencing using a custom monogenic diabetes gene panel was performed, and variants of 14 MODY genes were interpreted as per current guidelines.Results:The survey determined 18 patients having genetic variants causing MODY (6 HNF1A, 5 GCK, 3 HNF4A, 2 INS, 1 PDX1, and 1 PAX4). The prevalence of MODY was 0.74% (95% confidence interval [CI]: 0.40-1.08%). The clinical characteristics of MODY patients were not specific, 72.2% (13/18) of them were diagnosed after 35 years, 47.1% (8/17) had metabolic syndrome, and only 38.9% (7/18) had a family history of diabetes. No significant difference in manifestations except for hemoglobin A1c levels was found between MODY and non-MODY patients.Conclusion:The prevalence of MODY in young adults with phenotypic T2DM was 0.74%, among which HNF1A-, GCK-, and HNF4A-MODY were the most common subtypes. Clinical features played a limited role in the recognition of MODY.
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简介:摘要直肠梅毒的症状不典型,容易误诊、漏诊,临床上缺少检测组织梅毒螺旋体的商品化试剂。现报道2例直肠梅毒病例,患者均以消化道症状起病,肠镜检查提示直肠病变,但病理检查未能明确性质,通过宏基因组学二代测序在直肠组织中查见大量梅毒螺旋体片段,结合患者梅毒血清学检测为阳性,近期有同性无保护肛交史,支持直肠梅毒诊断,驱梅治疗后病情缓解。提示宏基因组学二代测序技术可以作为特殊组织和器官感染梅毒螺旋体的补充检测手段。
简介:【摘要】温州在中国琴史上占有重要的一席之地,第一个产生并影响深远的琴派“浙派”便诞生于此。自古以来,温州的琴乐文脉绵绵不息,至今不衰。本文以文化生态视域为切入点,对古琴艺术在温州的兴起、传播与发展进行考证,以期客观呈现其整体样貌,为温州琴学研究贡献一己之力。