F‐wave latencies in patients with diabetes mellitus

Introduction: To evaluate the sensitivity of electrophysiologic assessments, we compared F‐waves and motor and sensory nerve conduction studies (MNCS and SNCS) in patients with diabetes mellitus (DM). Methods: We tested median, ulnar, tibial, and fibular nerves in 132 DM patients divided into those with and without clinical evidence of polyneuropathy. Results: Of 64 asymptomatic patients, 2 (3%) had MNCS or SNCS abnormalities, both of whom had F‐wave changes, whereas 21 (33%) had only delayed F‐waves, for a combined yield of 23 (36%). The corresponding values for 68 symptomatic patients consisted of 43 (63%), 14 (21%), and 57 (84%). In both groups, F‐wave latency had a higher (P < 0.05) frequency of abnormality than MNCS in all nerves. F‐wave study also surpassed SNCS in lower limb nerves. Conclusions: F‐waves of the tibial and fibular nerves are the most sensitive measure to detect subclinical or overt diabetic polyneuropathy. Muscle Nerve 49 : 804–808, 2014     

Clinical cohort study on renal pathological features and prognosis of type 2 diabetic kidney disease patients

Objective To analyze the relationship between renal pathological characteristics and clinical prognosis in type 2 diabetic kidney disease patients, and discuss predictive value of pathological type and indexes for renal function declining rate and related outcome events. Methods Ninety-two type 2 diabetes patients from PUMC Hospital (with macroalbuminuria and followed up no less than 6 months, excluding patients with non-diabetic renal disease) were divided into typical diabetic glomerulopathy group (DG, n=51) and atypical diabetes-related renal disease group(ADRD, n=41) according to renal pathological findings. A retrospective cohort study was performed to investigate renal pathological features and prognosis. Results Total of 29 renal outcome events and 12 death events occurred in DG group and none in ADRD group; the survival rate and kidney survival rate are different between two groups (P＜0.05); DG group, thick GBM, severe vascular and tubular lesion are predicative indicators for renal outcome event; mesangial volume fraction is predicative indicator for renal outcome events independent of age and serum creatinine. Conclusions DG and ADRD patients have different prognosis and might undergo different pathophysiological mechanisms; renal pathological type and mesangial volume fraction could help predicting outcomes of type 2 diabetic nephropathy patients.     

早期2型糖尿病肾病患者社区综合干预效果分析

目的 探讨早期2型糖尿病肾病患者社区综合干预方案的实施效果.方法 对社区2型糖尿病在册管理对象中选择符合早期糖尿病肾病期诊断标准,且自愿参加的患者80例作为研究对象,实施肾病早期综合干预方案.干预12个月后对血压、空腹血糖、糖化血红蛋白、血脂及尿微量白蛋白指标进行效果评价.结果 研究对象经综合干预后其相关检测指标均比干预前有好转,经t检验分析：尿微量白蛋白、TG、HDL和LDL四项指标前后差异有极显著性意义（P＜0.01）;收缩压、舒张压、FBG、HbAlc、TL及BMI六项指标前后差异有显著性意义（P＜0.05）.结论 本研究反映在社区卫生服务中心对糖尿病伴发早期肾病患者开展综合干预是可行有效的,对控制早期糖尿病肾病患者病情的发展具有重要的影响.     

上海市某社区2012年糖尿病肾病危险因素分析

目的分析2012年上海市某社区2型糖尿病患者糖尿病肾病的危险因素．为制定糖尿病肾病临床防治措施提供依据。方法对480例社区2型糖尿病患者进行现况调查。根据尿微量白蛋白／尿肌酐比值将研究对象分为糖尿病肾病组和糖尿病非肾病组,比较两组间各因素的差异,并运用因素Logistie回归分析各影响因素与尿微量白蛋白／尿肌酐比值的关系。结果本研究436例2型糖尿病患者中,糖尿病肾病患病率为41．97％;2型糖尿病发生糖尿病肾病的前4住危险因素依次为2型糖尿病病程、糖化血红蛋白、静脉血清餐后2小时血糖和血清低密度脂蛋白胆固醇。结论糖尿病病程、高血糖和高血脂是导致2型糖尿病肾病发生的主要原因,因此,社区糖尿病管理必须超越以控制血糖为中心的治疗观念,强调全面综合治疗,防止糖尿病肾病的发生或延缓临床蛋白尿的发展。     

胰岛素治疗105例糖尿病肾病患者治疗回顾性分析

糖尿病肾病(diabetic nephropathy,DN)是糖尿病的主要并发症,也是导致终末期肾病的首位原因,严重影响了人类健康和生活质量。它的早期表现为间歇性无症状性微量蛋白尿[1]。我国近年来糖尿病发病率不断上升,患病人数仅次于印度,居世界第二位[2],据我院近8年来收集住院糖尿病患者308例,在除外其他肾脏病后的105例尿蛋白阳性者(或伴少许管型),临床诊断符合糖尿病肾病,使用胰岛素治疗,并发肾功能衰竭的患者作腹膜透析和血液透析     

The Association between Cognitive Impairment and Diabetic Foot Care: Role of Neuropathy and Glycated Hemoglobin

Diabetes mellitus is associated with impairment in cognitive functions which can complicate adherence to self-care behaviors. We evaluated the incidence of cognitive impairment in patients with diabetes mellitus to determine the strength of the association between diabetic foot (a complication that occurs in about 10% of diabetic patients), adherence to the clinician’s recommendations, glycemic control, and cognitive function. A prospective study was carried out in a probabilistic sample of older patients with diabetic foot living in three nursing homes. Cognitive functions were evaluated by the MMSE (Mini-Mental State Examination), the Trail Making test (TMT), and the Michigan neuropathy screening instrument (MNSI). There were no significant associations between cognitive function and neuropathy or foot alterations, although glycated hemoglobin (HB1Ac > 7%) significantly (p < 0.05) associated with MMSE and adherence to treatment in the 1 month follow-up visit. Receiver operating characteristic curve analysis showed that both HB1Ac and the MNSI score significantly (p < 0.05) discriminate subsequent adherence to treatment for foot complication, with a sensitivity of 80.0–73.3% and specificity 70.6–64.7%, respectively. Proper control of foot complications in diabetic patients involves appropriate glycemic control and less severe neuropathy, and seems to be unrelated to cognitive dysfunction, and warrants further studies in order to tailor appropriate treatments to central and peripheral nervous system disorders. Poor glycemic control (Hb1Ac level > 7%) and a neuropathy score of 5.5 in the MNSI are the best-cut off points to discriminate poor adherence to the clinician’s recommendations for self-care behaviors in people with diabetic foot complication. In this study, we observed that foot disorders were associated with impaired global cognitive function in elderly patients (aged ≥ 65). Podiatrists and physicians should consider cognitive dysfunction as an important chronic complication in the management of diabetic foot.     

Genetics of feline hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is characterized by an abnormal increase in myocardial mass that affects cardiac structure and function. HCM is the most common inherited cardiovascular disease in humans (0.2%) and the most common cardiovascular disease in cats (14.7%). Feline HCM phenotype is very similar to the phenotype found in humans, but the time frame for the development of the disease is significantly shorter. Similar therapeutic agents are used in its treatment and it has the same complications, such as heart failure, thromboembolism and sudden cardiac death. In contrast to humans, in whom thousands of genetic variants have been identified, genetic studies in cats have been limited to fragment analysis of two sarcomeric genes identifying two variants in MYBPC3 and one in MYH7. Two of these variants have also been associated with human disease. The high prevalence of the reported variants in non-affected cats hinders the assumption of their pathogenicity in heterozygotes. An in-depth review of the literature about genetic studies on feline HCM in comparison with the same disease in humans is presented here. The close similarity in the phenotype and genotype between cats and humans makes the cat an excellent model for the pathophysiological study of the disease and future therapeutic agents.     

遗传性心肌病的临床实践指南

心肌病是一组异质性心肌疾病,可由各种原因(常为遗传因素)引起,能够导致心力衰竭、心律失常和猝死。原发性心肌病包括遗传性肥厚型心肌病、致心律失常右室心肌病、线粒体心肌病、混合性(遗传性及获得性)扩张型心肌病和限制型心肌病、左心室致密化不全以及其他未分类的心肌病。借助基因组学技术,在人群中发现的一些常见突变与疾病的关联已被鉴定。这些突变的体内和体外功能研究为疾病的发生机制和治疗提供了有用的线索。本指南在参考国内外本领域的基础研究、临床研究和其他国家的相关指南共识的基础上,对不同类型遗传型心肌病的表型、诊断、治疗及遗传咨询进行了总结,期望有助于患者临床管理的规范化。     

Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy, historically believed to affect 1 of 500 people. MYBPC3 pathogenic variations are the most frequent cause of familial HCM and more than 90% of them introduce a premature termination codon. The current study aims to determine the prevalence of deep intronic MYBPC3 pathogenic variations that could lead to splice mutations. To improve molecular diagnosis, a next‐generation sequencing (NGS) workflow based on whole MYBPC3 sequencing of a cohort of 93 HCM patients, for whom no putatively causative point mutations were identified after NGS sequencing of a panel of 48 cardiomyopathy‐causing genes, was performed. Our approach led us to reconsider the molecular diagnosis of six patients of the cohort (6.5%). These HCM probands were carriers of either a new large MYBPC3 rearrangement or splice intronic variations (five cases). Four pathogenic intronic variations, including three novel ones, were detected. Among them, the prevalence of one of them (NM_000256.3:c.1927+ 600 C>T) was estimated at about 0.35% by the screening of 1,040 unrelated HCM individuals. This study suggests that deep MYBPC3 splice mutations account for a significant proportion of HCM cases (6.5% of this cohort). Consequently, NGS sequencing of MYBPC3 intronic sequences have to be performed systematically.