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Differential diagnosis of nonclassical 21-hydroxylase deficiency and polycystic ovary syndrome 非经典21-羟化酶缺乏与多囊卵巢综合征的鉴别诊断
Q4 Medicine Pub Date : 2020-04-25 DOI: 10.3760/CMA.J.CN311282-20190822-00337
Shengnan Wang, Yanjie Xia, Lijun Xu, Q. Yu, Xia-lian Li, Liangge Sun, G. Qin, Huijuan Zhang
Objective To explore the differential diagnosis methods between nonclassical 21-hydroxylase deficiency(NC21-OHD) and polycystic ovary syndrome(PCOS). Methods The clinical data of 31 women with NC21-OHD were compared with those of 29 women with PCOS. Results Women with NC21-OHD showed a higher prevalence of adrenal hyperplasia and lower likelihood of polycystic ovary(PCO) than those with PCOS(P<0.05), with lower height(P<0.05). The levels of adrenocorticotropic hormone (ACTH), 17-hydroxyprogesterone(17-OHP), androstenedione(AD), total testosterone(TT), and progesterone were higher in women with NC21-OHD compared with those with PCOS(P<0.05). Women with PCOS had higher levels of luteinizing hormone(LH) and higher ratio of LH to follicle stimulating hormone(FSH) than those with NC21-OHD(P<0.05). The best two identification indexes for the two diseases were 17-OHP and progesterone, with the optimal cut-off points 3.34 ng/ml(sensitivity 89.7%, specificity 93.1%) and 0.64 ng/ml(sensitivity 90.0%, specificity 75.9%), respectively. During the 1-day mid-dose dexamethasone suppression test(DST), women with NC21-OHD had higher inhibition rates of 17-OHP, progesterone, AD, and TT(P<0.01) than those with PCOS. Their optimal cut-off values of suppression rates were 73.5%(sensitivity 95.2%, specificity 100.0%), 55.5%(sensitivity 100%, specificity 88.9%), 61.4%(sensitivity 84.2%, specificity 100.0%), 68.3%(sensitivity 65.0%, specificity 100.0%), respectively. Conclusion The clinical manifestations of women with NC21-OHD are similar to those with PCOS. 17-OHP is the best differential indicator and the 1-day mid-dose DST plays an important role in the identification of the two diseases. Genetic analysis is the gold standard for distinguishing the two diseases. Key words: Nonclassical 21-hydroxylase deficiency; Polycystic ovary syndrome; 17-hydroxyprogesterone; Progesterone; Dexamethasone suppression test
目的探讨非经典21-羟化酶缺乏症(NC21-OHD)与多囊卵巢综合征(PCOS)的鉴别诊断方法。方法对31例NC21-OHD患者和29例PCOS患者的临床资料进行比较。结果NC21-OHD患者的肾上腺增生发生率和多囊卵巢(PCO)发生率高于PCOS患者(P<0.05),身高较低(P<0.05)。促肾上腺皮质激素(ACTH)、17-OHP、雄烯二酮(AD)、总睾酮(TT)、,NC21-OHD患者黄体生成素(LH)水平和卵泡刺激素(FSH)比值均高于PCOS患者(P<0.05),最佳分界点分别为3.34ng/ml(敏感性89.7%,特异性93.1%)和0.64ng/ml,敏感性90.0%,特异性75.9%)。在为期1天的中剂量地塞米松抑制试验(DST)中,患有NC21-OHD的女性对17-OHP、孕酮、AD和TT的抑制率高于患有PCOS的女性(P<0.01)。其抑制率的最佳临界值分别为73.5%(敏感性95.2%,特异性100.0%)、55.5%(敏感性100%,特异性88.9%)、61.4%(敏感性84.2%,特异度100.0%)和68.3%(敏感性65.0%,特异性100%)。结论NC21-OHD患者的临床表现与PCOS患者相似。17-OHP是最好的鉴别指标,1天中剂量DST在识别这两种疾病中起着重要作用。基因分析是区分这两种疾病的黄金标准。关键词:非经典21-羟化酶缺乏症;多囊卵巢综合征;17-羟基孕酮;孕酮;地塞米松抑制试验
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引用次数: 0
Association between bilirubin levels and diabetic retinopathy in type 2 diabetes mellitus 胆红素水平与2型糖尿病视网膜病变的关系
Q4 Medicine Pub Date : 2020-03-25 DOI: 10.3760/CMA.J.CN311282-20190804-00313
Dan Li, Baolan Ji, B. Ban, Mei Zhang, Min Wang, Bing-qing Sun
Objective To investigate the correlation between serum bilirubin level and the risk of diabetic retinopathy (DR) in patients with type 2 diabetes mellitus of different sexes. Methods A total of 1 304 patients with type 2 diabetes mellitus were included in this study. The clinical data were collected and fundus examination was performed. According to the results of fundus examination, the patients were divided into DR group and Non-DR (NDR) group. The correlation between the levels of serum total bilirubin, direct bilirubin, indirect bilirubin, and the occurrence of DR was analyzed. Results The levels of total bilirubin, direct bilirubin, and indirect bilirubin in DR group were significantly lower than those in NDR group. Univariate analysis showed that the levels of total bilirubin and indirect bilirubin were negatively correlated with the occurrence of DR (P<0.01). There was no significant correlation between the level of direct bilirubin and the occurrence of DR. Smooth curve fitting showed that there was a U-shaped relationship between the levels of total bilirubin and indirect bilirubin and the risk of DR in women, while a negative correlation between total bilirubin, indirect bilirubin and the risk of DR in men. The results of multiple regression analysis showed that in men total bilirubin increased by 1 μmol/L, the risk of DR decreased by 8% (OR=0.92, 95%CI 0.88-0.98, P<0.01). Indirect bilirubin increased by 1 μmol/L, and the risk of DR decreased by 9% (OR=0.91, 95%CI 0.84-0.96, P<0.01). In women, when total bilirubin<12.8 μmol/L, for every 1 μmol/L increase in total bilirubin, the risk of DR decreased by 17%(OR=0.83, 95%CI 0.72-0.95, P<0.01); When total bilirubin≥12.8 umol/L, for every 1 μmol/L increase in total bilirubin, the risk of DR increased by 10%(OR=1.10, 95%CI 1.01-1.20, P<0.05); When indirect bilirubin<9.8 μmol/L, for every 1 μmol/L increase in indirect bilirubin, the risk of DR decreased by 20%(OR=0.80, 95%CI 0.68-0.94, P<0.01); When indirect bilirubin≥9.8 μmol/L, for every 1 μmol/L increase in indirect bilirubin, the risk of DR increased by 13%(OR=1.13, 95%CI 1.01-1.25, P<0.05). Conclusion This study shows that there is a U-shaped relationship between the levels of total bilirubin and indirect bilirubin and the risk of DR in female patients with type 2 diabetes mellitus, and there is a negative correlation between total bilirubin, indirect bilirubin and the risk of DR in male patients. However, there was no significant correlation between direct bilirubin and DR risk. Key words: Diabetes mellitus, type 2; Diabetic retinopathy; Bilirubin
目的探讨不同性别2型糖尿病患者血清胆红素水平与糖尿病视网膜病变(DR)风险的相关性。方法本研究共纳入1304例2型糖尿病患者。收集临床资料,进行眼底检查。根据眼底检查结果,将患者分为DR组和非DR组。分析血清总胆红素、直接胆红素、间接胆红素水平与DR发生的相关性。结果DR组总胆红素、直接胆红素和间接胆红素水平均显著低于NDR组。单因素分析显示,总胆红素和间接胆红素与DR的发生呈负相关(P<0.01),直接胆红素与DR发生无显著相关性。平滑曲线拟合显示,女性总胆红素和间接胆红素水平与DR风险呈U型关系,男性总胆红素、间接胆红素与DR风险呈正相关。多元回归分析结果表明,男性总胆红素升高1μmol/L,DR发生风险降低8%(OR=0.92,95%CI 0.88-0.98,P<0.01),DR风险降低17%(OR=0.83,95%CI 0.72-0.95,P<0.01);当总胆红素≥12.8μmol/L时,总胆红素每增加1μmol/L,DR风险增加10%(OR=1.10,95%CI 1.01-1.20,P<0.05);当间接胆红素<9.8μmol/L时,间接胆红素每增加1μmol/L,DR风险降低20%(OR=0.80,95%CI0.68-0.94,P<0.01);当间接胆红素≥9.8μmol/L时,间接胆红素每增加1μmol/L,DR风险增加13%(OR=1.13,95%CI 1.01-1.25,P<0.05),男性患者总胆红素、间接胆红素与DR风险呈负相关。然而,直接胆红素与DR风险之间没有显著相关性。关键词:糖尿病,2型;糖尿病视网膜病变;胆红素
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引用次数: 0
Potential effects of 2017 ACC/AHA hypertension guideline on the prevalence of hypertension among population aged 40-79 with different glucose metabolism in Guiyang city 2017年ACC/AHA高血压指南对贵阳市40-79岁不同糖代谢人群高血压患病率的潜在影响
Q4 Medicine Pub Date : 2020-03-25 DOI: 10.3760/CMA.J.CN311282-20190715-00275
Weiwei Jiang, Nianchun Peng, Li-xin Shi, Qiao Zhang, Ying Hu, Jing Xu
Objective To discuss hypertension situations of 40-79 years old residents with different glucose metabolic status in Guiyang urban area under the new hypertension diagnostic criteria proposed by American College of Cardiology/American Heart Association (ACC/AHA) in 2017 and provide a clue for diagnostic criteria and treatment strategy of hypertension. Methods 10 140 residents in 40-79 years old in Risk Evaluation of cAncers in Chinese diabeTic Individuals: a IONgitudinal (REACTION) Study Research Guiyang Sub-center were conducted retrospective analysis. According to medical history of diabetes and oral glucose tolerance test results, these residents were divided into normal glucose group, impaired fasting glucose(IFG) group, impaired glucose tolerance (IGT) group, IFG+ IGF group, previous diagnostic diabetes group and newly diagnosed diabetes group. Hypertension situation of residents with different glucose metabolic status under the Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure (JNC 7), and Hypertension Guide of ACC/AHA in 2017 were calculated. Results Under JNC 7 criteria, hypertension′s standardized prevalence rate of normal blood glucose people, prediabetes patients, and diabetes patients in 40-79 years old respectively reached 8.19%, 9.57%, and 8.19%. Under ACC/AHA 2017 criteria, hypertension′s standardized prevalence rate respectively reached 20.27%, 16.35%, and 11.59%. By contrast, the most obvious increase of hypertension′s prevalence rate was in the normal blood glucose group and IGT group. Newly increased hypertension patients reached 1 739. Among them, 25.8% required antihypertensive drugs for treatment. According to the 6th demographic census data of Guizhou Province in 2010, it was estimated that newly increased hypertensive patients aged 40-79 years in prediabetes patients reached 123 000, among them, 20 000 required treatment. Newly increased hypertensive patients aged 40-79 years in diabetes patients reached 68 000, among them, 21 000 required treatment. Conclusions ACC/AHA Hypertension Guide in 2017 will obviously increase hypertension′s prevalence rate of people with different glucose metabolic status in 40-49 years old. The treatment ratio of hypertension groups with diabetes and prediabetes is considerably high. As a result, social medical burdens is going to aggravate. Key words: Prediabetes state; Diabetes mellitus; Hypertension; Guide; Prevalence
目的根据美国心脏病学会/美国心脏协会(ACC/AHA)2017年提出的新的高血压诊断标准,探讨贵阳市区40-79岁不同糖代谢状态居民的高血压状况,为制定高血压的诊断标准和治疗策略提供依据。方法对10 140名40~79岁的居民进行回顾性分析。根据糖尿病病史和口服糖耐量测试结果,将这些居民分为正常血糖组、空腹血糖受损组、糖耐量受损组、IFG+IGF组、既往诊断糖尿病组和新诊断糖尿病组。根据2017年《全国高血压预防、检测、评估和治疗联合委员会第七次报告》和《ACC/AHA高血压指南》,计算不同葡萄糖代谢状态的居民的高血压状况。结果在JNC7标准下,40-79岁血糖正常人群、糖尿病前期患者和糖尿病患者的高血压标准化患病率分别达到8.19%、9.57%和8.19%。在ACC/AHA 2017标准下,高血压标准化发病率分别达到20.27%、16.35%和11.59%,高血压患病率升高最明显的是血糖正常组和IGT组。新增高血压患者1739人。其中,25.8%的患者需要降压药治疗。根据贵州省2010年第六次人口普查数据,估计糖尿病前期新增40-79岁高血压患者达12.3万人,其中2万人需要治疗。糖尿病患者中新增加的40-79岁高血压患者达到68000人,其中21000人需要治疗。结论2017年ACC/AHA高血压指南将明显提高40-49岁不同糖代谢状态人群的高血压患病率。高血压合并糖尿病和糖尿病前期患者的治疗比例相当高。因此,社会医疗负担将加重。关键词:糖尿病前期状态;糖尿病;高血压;指南;患病率
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引用次数: 1
Interpretation and comparison of guidelines for diagnosis and treatment of diabetic foot between International Working Group on Diabetic Foot and Chinese Diabetes Society 国际糖尿病足工作组与中国糖尿病学会糖尿病足诊疗指南的解读与比较
Q4 Medicine Pub Date : 2020-03-25 DOI: 10.3760/CMA.J.CN311282-20190723-00290
Hui Yang, Xinjuan Sun, Z. Hu, Yin-chen Chen
This exploratory study attempted to establish the rules in diagnosis and treatment of diabetic foot, through interpretation and comparison of the guidelines for diabetic foot from domestic with international ones. The document provided comparison between Guidelines of International Working Group on Diabetic Foot (IWGDF) and Chinese Diabetes Society (CDS) in 2019, related to diabetic foot disease on: methodology, content, prevention, offloading, peripheral artery disease (PAD), infection, wound healing interventions, and classification of diabetic foot ulcers. Prevention of ulcers in persons with diabetes foot is very important, and a non-removable offloading device is the first-choice of offloading treatment; Surgical indications and reasonable treatment should be mastered in PAD; Different anti-infection treatments, including surgical debridement, should be used base on the severity of foot infection; There are lots of treatments to improve healing, however the Grand Standard of medical evidence is not very high; There are a larger number of proposed classifications and scoring systems for diabetic foot, but none of them could cover all the needs of diagnosis and treatment. Thus, the principles outlined have to be adapted or modified by our health care professionals, based on local circumstances, to develop a standardizated procedure in diagnosis and treatment of diabetic foot. Key words: Diabetic foot; Guidelines; International Working Group on Diabetic Foot; Chinese Diabetes Society
本研究通过对国内外糖尿病足指南的解读和比较,试图建立糖尿病足的诊断和治疗规则。该文件比较了2019年国际糖尿病足工作组(IWGDF)和中国糖尿病学会(CDS)关于糖尿病足疾病的指南:方法、内容、预防、卸载、外周动脉疾病(PAD)、感染、伤口愈合干预和糖尿病足溃疡的分类。预防糖尿病足溃疡非常重要,不可拆卸的卸载装置是卸载治疗的首选;PAD应掌握手术指征及合理治疗;应根据足部感染的严重程度使用不同的抗感染治疗方法,包括手术清创术;有很多治疗方法可以改善愈合,但医学证据的总体标准不是很高;糖尿病足的分类和评分系统有很多,但都不能满足诊断和治疗的所有需求。因此,我们的医疗保健专业人员必须根据当地情况对所概述的原则进行调整或修改,以制定糖尿病足诊断和治疗的标准化程序。关键词:糖尿病足;指导方针;糖尿病足国际工作组;中国糖尿病学会
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引用次数: 0
Study on insulin resistance, glycolipid metabolism, and sex hormones in patients with polycystic ovary syndrome 多囊卵巢综合征患者胰岛素抵抗、糖脂代谢及性激素的研究
Q4 Medicine Pub Date : 2020-03-25 DOI: 10.3760/CMA.J.CN311282-20190629-00247
Dan Yang, Lin Zhang, Qu Yao, Han Zhang, Ying Zhang, X. Liao, Yu Zhao, Ling Zhang, Y. Cheng
Objective To evaluate the insulin resistance of patients with polycystic ovary syndrome (PCOS) by hyperinsulin-euglycemic clamp test, and to explore the characteristics of glycolipid metabolism and sex hormone levels in PCOS patients with insulin resistance. Methods Seventy-three patients with PCOS and 27 healthy women with body mass index and age matched with PCOS patients who were admitted to the Department of Endocrinology of Affiliated Hospital of Zunyi Medical University from July 2017 to February 2019 were underwent hyperinsulin-euglycemic clamp test. All subjects were grouped according to glucose metabolic rate, body mass index, and homeostasis model assessment for insulin resistance (HOMA-IR), the changes and differences of glucose and lipid metabolism and sex hormone indexes in PCOS patients were analyzed. Results In the PCOS group, impaired glucose regulation accounted for 3.23% (1/31), and abnormal lipid metabolism for 9.68% (3/31). In the PCOS with insulin resistance group, impaired glucose regulation accounted for 7.14% (3/42). Abnormal blood lipid metabolism reached 47.62% (20/42), and 5 patients were diagnosed with metabolic syndrome, accounting for 11.90%. Correlation analysis showed glucose metabolic rate and body mass index, waist-to-hip ratio, systolic blood pressure, fasting plasma glucose, fasting insulin, HOMA-IR, cortisol, triglyceride, total cholesterol, low density lipoprotein-cholesterol (LDL-C), free androgen index (FAI), and glutamyl transpeptidase (GGT) were negatively correlated(all P<0.05), while positively correlated with high density lipoprotein-cholesterol (HDL-C; P=0.028). HOMA-IR was positively correlated with body mass index, waist-to-hip ratio, systolic blood pressure, fasting plasma glucose, fasting insulin, HbA1C, LDL-C (P<0.05), and negatively correlated with glucose metabolic rate and HDL-C (P<0.05). Body mass index and waist-to-hip ratio, systolic blood pressure, fasting plasma glucose, fasting insulin, HOMA-IR, triglyceride, and LDL-C (P<0.05) were positively correlated, and negatively correlated with glucose metabolic rate, HDL-C, and sex hormone binding globulin (SHBG; P<0.01). Multivariate linear stepwise regression analysis showed that body mass index, total cholesterol, triglyceride, and cortisol were principal factors affecting glucose metabolic rate. Fasting plasma glucose, fasting insulin, and systolic blood pressure were important factors influencing HOMA-IR. Glucose metabolic rate, HOMA-IR, HDL-C, while SHBG were still vital to body mass index. Conclusion FAI, SHBG, and cortisol may be involved in the insulin resistance development of PCOS patients, and PCOS patients with insulin resistance were more susceptible to metabolic disorders. Key words: Polycysic ovarian syndrome; Insulin resistance; Hyperinsulin-euglycemic clamp; Glycolipid metabolism; Sex hormone
目的应用高胰岛素-正糖钳试验评价多囊卵巢综合征(PCOS)患者的胰岛素抵抗,探讨多囊卵巢综合征合并胰岛素抵抗患者糖脂代谢及性激素水平的变化特点。方法2017年7月至2019年2月在遵义医科大学附属医院内分泌科就诊的73例PCOS患者和27例体重指数、年龄与PCOS患者匹配的健康女性进行高胰岛素-血糖钳夹试验。根据糖代谢率、体重指数、胰岛素抵抗稳态模型评估(HOMA-IR)对所有受试者进行分组,分析PCOS患者糖脂代谢及性激素指标的变化与差异。结果PCOS组血糖调节异常占3.23%(1/31),脂质代谢异常占9.68%(3/31)。PCOS合并胰岛素抵抗组中,葡萄糖调节功能受损占7.14%(3/42)。血脂代谢异常达47.62%(20/42),诊断为代谢综合征5例,占11.90%。相关分析显示,糖代谢率与体重指数、腰臀比、收缩压、空腹血糖、空腹胰岛素、HOMA-IR、皮质醇、甘油三酯、总胆固醇、低密度脂蛋白-胆固醇(LDL-C)、游离雄激素指数(FAI)、谷氨酰转肽酶(GGT)呈负相关(均P<0.05),与高密度脂蛋白-胆固醇(HDL-C)呈正相关;P = 0.028)。HOMA-IR与体重指数、腰臀比、收缩压、空腹血糖、空腹胰岛素、HbA1C、LDL-C呈正相关(P<0.05),与糖代谢率、HDL-C呈负相关(P<0.05)。体重指数与腰臀比、收缩压、空腹血糖、空腹胰岛素、HOMA-IR、甘油三酯、LDL-C呈正相关(P<0.05),与糖代谢率、HDL-C、性激素结合球蛋白(SHBG)呈负相关;P < 0.01)。多元线性逐步回归分析显示,体重指数、总胆固醇、甘油三酯和皮质醇是影响糖代谢率的主要因素。空腹血糖、空腹胰岛素和收缩压是影响HOMA-IR的重要因素。葡萄糖代谢率、HOMA-IR、HDL-C和SHBG仍对体重指数至关重要。结论FAI、SHBG、皮质醇可能参与PCOS患者胰岛素抵抗的发展,且PCOS胰岛素抵抗患者更易发生代谢紊乱。关键词:多囊卵巢综合征;胰岛素抵抗;Hyperinsulin-euglycemic夹;醣脂类代谢;性激素
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引用次数: 0
Paying close attention to diabetic patients with novel coronavirus infection 密切关注新型冠状病毒感染糖尿病患者
Q4 Medicine Pub Date : 2020-03-25 DOI: 10.3760/CMA.J.CN311282-20200218-00078
Bing Liu, Xuefei Liu, Min-jie Zhou
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a major infectious disease. Current clinical studies have shown that diabetes is commonly complicated with this disorder. Hyperglycemia is a risk factor for severe infection, and also an independent risk factor for the progression of mild infection to severe ones. This may be related to the immune deficiency of diabetics. Besides, virus may cause direct damage to the islets and induce acute stress hyperglycemia. Special attention should be paid to the diabetics with SARS-CoV-2 infection. Systemic steroid hormones should be used with particular caution in patients with SARS-CoV-2 infection, especially those with diabetes. Key words: Severe acute respiratory syndrome coronavirus 2; Infection; Diabetes mellitus; Immune deficiency
严重急性呼吸系统综合征冠状病毒2型是一种主要的传染病。目前的临床研究表明,糖尿病通常伴有这种疾病。高血糖是严重感染的一个风险因素,也是轻度感染发展为严重感染的独立风险因素。这可能与糖尿病患者的免疫缺陷有关。此外,病毒可能对胰岛造成直接损伤,并诱发急性应激性高血糖。应特别注意严重急性呼吸系统综合征冠状病毒2型感染的糖尿病患者。严重急性呼吸系统综合征冠状病毒2型感染患者,尤其是糖尿病患者,应特别小心使用全身类固醇激素。关键词:严重急性呼吸系统综合征冠状病毒2型;感染;糖尿病;免疫缺陷
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引用次数: 0
Use Stones from Another Mountain to Polish One’s Jade: Learn from MERS Studies toexplore potential mechanisms underlying the effect of diabetes mellitus on COVID-19/ 中华内分泌代谢杂志 用另一座山上的石头打磨玉:从MERS研究中学习,探索糖尿病对新冠肺炎影响的潜在机制/中华内分泌代谢杂志
Q4 Medicine Pub Date : 2020-03-25 DOI: 10.3760/CMA.J.CN311282-20200212-00058
Sijue Yang, H. Guan
Epidemiology studies suggest that comorbid diabetes may have some negative impacts on the development and progression of the coronavirus disease 2019 (COVID-19). However, the exact mechanisms remain to be unclear so far. A recent study on another type of coronavirus infection, Middle East respiratory syndrome (MERS), was investigated along with its relationship with diabetes. This essay aims to give a brief introduction to this report and related studies, and to propose some suggestions on what we may learn from these investigations to conduct further studies on the potential mechanisms underlying the effects of diabetes mellitus on COVID-19. Key words: Coronavirus; Coronavirus disease 2019; Middle East respiratory syndrome; Diabetes mellitus; Mechanism
流行病学研究表明,共病糖尿病可能对2019冠状病毒病(新冠肺炎)的发展和进展产生一些负面影响。然而,到目前为止,确切的机制仍不清楚。最近一项关于另一种冠状病毒感染——中东呼吸综合征(MERS)的研究及其与糖尿病的关系进行了调查。本文旨在对本报告和相关研究进行简要介绍,并就我们可以从这些研究中学习到什么提出一些建议,以进一步研究糖尿病对新冠肺炎影响的潜在机制。关键词:冠状病毒;2019冠状病毒病;中东呼吸综合征;糖尿病;机制
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引用次数: 2
A potential novel mutation site for type 7 maturity-onset diabetes of the young 一个潜在的新的突变位点7型成熟型糖尿病的年轻人
Q4 Medicine Pub Date : 2020-03-25 DOI: 10.3760/CMA.J.CN311282-20190826-00339
Shengyun Hao, Qiao Zhang
Objective To search for the potential novel mutation site and to discuss related clinical characteristics by collecting detailed information and testing the gene of a family with highly suspected type 7 maturity-onset diabetes of the young (MODY7). Methods The gene test was conducted in a 28-year-old female patient with a 20-year course of non-ketosis-prone diabetes, with non-effective long-term insulin treatment, and a 3-generation family history of diabetes, and the patient was found to carry KLF11 gene mutation. Thus, the clinical data of family members were collected and investigated, and the pathogenic gene was tested. Firstly, the proband was searched for pathogenic genes by chip-capture high-throughput sequencing method. Then the mutation sites were verified by Sanger sequencing technology, and other family members were searched for the same mutation sites by the Sanger sequencing technology. Results A total of two members of the family was found to have heterozygous mutation of KLF11 gene: c. 920C>T (No. 920 nucleotide of the coding region mutated from cytosine to thymine), resulting in the change of corresponding amino acid p. P307L (No. 307 amino acid changed from proline to leucine), which was a missense mutation and was consistent with their clinical diagnosis of diabetes. Conclusions The family in this study had a family history of diabetes caused by the missense mutation of KLF11 gene. This is the first report of the mutation site of c. 920C >T (p.P307l), which may be a new mutation site of MODY7. Key words: Maturity-onset diabetes of the young, type 7; Transcription factor KLF11; Missense mutation
目的通过收集详细信息和检测一个高度怀疑的7型青年成熟期糖尿病(MODY7)家族的基因,寻找潜在的新突变位点,并探讨相关的临床特征。方法对一名28岁女性患者进行基因检测,该患者患有20年非酮症易发性糖尿病,长期胰岛素治疗无效,有3代糖尿病家族史,发现患者携带KLF11基因突变。因此,收集和调查了家庭成员的临床数据,并对致病基因进行了检测。首先,采用芯片捕获高通量测序方法对先证者进行致病基因搜索。然后通过Sanger测序技术验证突变位点,并通过Sanger序列技术搜索其他家庭成员的相同突变位点。结果发现该家族共有2名成员存在KLF11基因杂合突变:c.920C>T(编码区920号核苷酸由胞嘧啶突变为胸腺嘧啶),导致相应的氨基酸p发生变化。P307L(307号氨基酸由脯氨酸变为亮氨酸)为错义突变,符合其糖尿病临床诊断。结论本研究家族有因KLF11基因错义突变引起的糖尿病家族史。这是首次报道c.920C>T的突变位点(p.P307l),可能是MODY7的一个新的突变位点。关键词:青年期成熟期糖尿病7型;转录因子KLF11;错义突变
{"title":"A potential novel mutation site for type 7 maturity-onset diabetes of the young","authors":"Shengyun Hao, Qiao Zhang","doi":"10.3760/CMA.J.CN311282-20190826-00339","DOIUrl":"https://doi.org/10.3760/CMA.J.CN311282-20190826-00339","url":null,"abstract":"Objective \u0000To search for the potential novel mutation site and to discuss related clinical characteristics by collecting detailed information and testing the gene of a family with highly suspected type 7 maturity-onset diabetes of the young (MODY7). \u0000 \u0000 \u0000Methods \u0000The gene test was conducted in a 28-year-old female patient with a 20-year course of non-ketosis-prone diabetes, with non-effective long-term insulin treatment, and a 3-generation family history of diabetes, and the patient was found to carry KLF11 gene mutation. Thus, the clinical data of family members were collected and investigated, and the pathogenic gene was tested. Firstly, the proband was searched for pathogenic genes by chip-capture high-throughput sequencing method. Then the mutation sites were verified by Sanger sequencing technology, and other family members were searched for the same mutation sites by the Sanger sequencing technology. \u0000 \u0000 \u0000Results \u0000A total of two members of the family was found to have heterozygous mutation of KLF11 gene: c. 920C>T (No. 920 nucleotide of the coding region mutated from cytosine to thymine), resulting in the change of corresponding amino acid p. P307L (No. 307 amino acid changed from proline to leucine), which was a missense mutation and was consistent with their clinical diagnosis of diabetes. \u0000 \u0000 \u0000Conclusions \u0000The family in this study had a family history of diabetes caused by the missense mutation of KLF11 gene. This is the first report of the mutation site of c. 920C >T (p.P307l), which may be a new mutation site of MODY7. \u0000 \u0000 \u0000Key words: \u0000Maturity-onset diabetes of the young, type 7; Transcription factor KLF11; Missense mutation","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"235-239"},"PeriodicalIF":0.0,"publicationDate":"2020-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49179263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
New insights into the growing diabetes epidemic in China: middle-aged obesity-related insulin resistance becomes the major threat 中国日益严重的糖尿病流行的新见解:中年肥胖相关的胰岛素抵抗成为主要威胁
Q4 Medicine Pub Date : 2020-03-25 DOI: 10.3760/CMA.J.CN311282-20200108-00009
Tiange Wang, Jieli Lu, Y. Bi, Weiqing Wang
Delineation of the relationship between insulin resistance, β cell dysfunction, and obesity is crucial for the prevention and effective management of diabetes. Previous studies have indicated that, compared with type 2 diabetes in Caucasian, type 2 diabetes in East Asians is characterized primarily by β cell dysfunction rather than insulin resistance. This pathophysiological characterization of diabetes in East Asians is mainly derived from Japanese and Asian-American populations, whereas data from mainland China are scarce. Over the past four decades, China has witnessed a substantial rise in obesity, in parallel with the transitions from principally active lifestyles and calorie-restricted diets to sedentary life styles and energy-dense, western diets. Obesity is an insulin resistance state and the major factor driving the worldwide epidemic of diabetes. It is unknown whether, and if so how, obesity affects the two primary mechanisms, insulin resistance and β cell dysfunction, responsible for the development of diabetes in the Chinese population. Recently, the Lancet Diabetes & Endocrinology published an original research paper from the China Cardiometabolic Disease and Cancer Cohort Study (4C). From a public health perspective, the results of this study reinforce the urgency of tackling obesity as a major preventive strategy for the epidemic of type 2 diabetes in China. Key words: Diabetes mellitus; Insulin resistance; βcell dysfunction; Obesity; China
阐明胰岛素抵抗、β细胞功能障碍和肥胖之间的关系对于预防和有效管理糖尿病至关重要。先前的研究表明,与高加索人的2型糖尿病相比,东亚人的2号糖尿病主要以β细胞功能障碍而非胰岛素抵抗为特征。东亚糖尿病的病理生理特征主要来自日本和亚裔美国人,而来自中国大陆的数据很少。在过去的四十年里,中国的肥胖率大幅上升,同时也从主要的积极生活方式和热量限制饮食转变为久坐不动的生活方式和高能量的西方饮食。肥胖是一种胰岛素抵抗状态,也是全球糖尿病流行的主要因素。目前尚不清楚肥胖是否以及如何影响胰岛素抵抗和β细胞功能障碍这两种主要机制,这两种机制是导致中国人群糖尿病发展的原因。最近,《柳叶刀糖尿病与内分泌学》发表了一篇来自中国心脏代谢疾病与癌症队列研究(4C)的原创研究论文。从公共卫生的角度来看,这项研究的结果强化了将肥胖作为中国2型糖尿病流行的主要预防策略的紧迫性。关键词:糖尿病;胰岛素抵抗;β细胞功能障碍;肥胖;中国
{"title":"New insights into the growing diabetes epidemic in China: middle-aged obesity-related insulin resistance becomes the major threat","authors":"Tiange Wang, Jieli Lu, Y. Bi, Weiqing Wang","doi":"10.3760/CMA.J.CN311282-20200108-00009","DOIUrl":"https://doi.org/10.3760/CMA.J.CN311282-20200108-00009","url":null,"abstract":"Delineation of the relationship between insulin resistance, β cell dysfunction, and obesity is crucial for the prevention and effective management of diabetes. Previous studies have indicated that, compared with type 2 diabetes in Caucasian, type 2 diabetes in East Asians is characterized primarily by β cell dysfunction rather than insulin resistance. This pathophysiological characterization of diabetes in East Asians is mainly derived from Japanese and Asian-American populations, whereas data from mainland China are scarce. Over the past four decades, China has witnessed a substantial rise in obesity, in parallel with the transitions from principally active lifestyles and calorie-restricted diets to sedentary life styles and energy-dense, western diets. Obesity is an insulin resistance state and the major factor driving the worldwide epidemic of diabetes. It is unknown whether, and if so how, obesity affects the two primary mechanisms, insulin resistance and β cell dysfunction, responsible for the development of diabetes in the Chinese population. Recently, the Lancet Diabetes & Endocrinology published an original research paper from the China Cardiometabolic Disease and Cancer Cohort Study (4C). From a public health perspective, the results of this study reinforce the urgency of tackling obesity as a major preventive strategy for the epidemic of type 2 diabetes in China. \u0000 \u0000 \u0000Key words: \u0000Diabetes mellitus; Insulin resistance; βcell dysfunction; Obesity; China","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"198-200"},"PeriodicalIF":0.0,"publicationDate":"2020-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47307961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Research progress on the mechanism of sex hormones and their receptors in liver lipid metabolism 性激素及其受体在肝脏脂质代谢中的作用机制研究进展
Q4 Medicine Pub Date : 2020-03-25 DOI: 10.3760/CMA.J.CN311282-20190520-00190
Lu Liu, Yuyou Jiang, Shushu Li
The liver is one of the most important organs which regulate lipid metabolism in the body. Hepatic steatosis is a major manifestation of metabolic syndrome and is associated with an imbalance between lipid synthesis and decomposition. There are gender and age differences in the prevalence of fatty liver, suggesting that sex hormones may play a crucial role. This review summarizes current literatures on the regulation of hepatic lipid metabolism by sex hormones and their receptors. In females, estradiol binds to estrogen receptors to reduce liver fat production and fatty acid intake, while enhancing lipolysis and cholesterol secretion. In males, testosterone reduces adipogenesis and promotes fat breakdown through androgen receptors. These findings suggest that sex hormones and their receptors can serve as potential targets for preventing hepatic steatosis. Key words: Sex hormones; Estrogen receptor; Androgen receptor; Liver; Lipid metabolism
肝脏是调节机体脂质代谢的重要器官之一。肝脂肪变性是代谢综合征的主要表现,与脂质合成和分解失衡有关。脂肪肝的患病率存在性别和年龄差异,这表明性激素可能起着至关重要的作用。本文就性激素及其受体调控肝脏脂质代谢的研究进展进行综述。在女性中,雌二醇与雌激素受体结合,减少肝脏脂肪生成和脂肪酸摄入,同时促进脂肪分解和胆固醇分泌。在男性中,睾酮通过雄激素受体减少脂肪生成并促进脂肪分解。这些发现提示性激素及其受体可作为预防肝脂肪变性的潜在靶点。关键词:性激素;雌激素受体;雄激素受体;肝;脂质代谢
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引用次数: 0
期刊
中华内分泌代谢杂志
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