Maturity onset diabetes of the young (MODY) is a highly heterogeneous monogenic disease that occurs due to beta-cell dysfunction. It is divided into different types depending on the gene mutated, and a total of 16 genes have been found to be associated with MODY. However, due to the current lack of understanding of monogenic diabetes, 90% of MODY is currently misdiagnosed and ignored in clinical practice. In this paper, we report the clinical data of a patient diagnosed with diabetes. Genetic testing revealed a novel BLK heterozygous mutation (c.363G>A) in the patient and in his father and son. He had no islet-specific autoantibodies and showed a reduced meal-induced response of insulin. Precise diagnosis of MODY individuals is important to the treatment.

Klinefelter syndroms(48,XXYY) syndromes are rare sex chromosome aneuploidy disorders characterized by the presence of more extra X and Y chromosomes in males. However, 48,XXYY are less studied, possibly due to its rarity. The incidence of 48,XXYY is estimated at 1:18,000–40,000 male births. While this sex chromosome aneuploidy is associated with multifarious of complex metabolic derangements, physical, psychological and psychosocial features, the clinical description of Klinefelter syndrome 48,XXYY over time has evolved to develop a greater understanding of this complex disorder. This paper reports a case of Klinefelter syndrome with chromosome karyotype 48, XXYY and abnormal glucose metabolism, which was admitted to hospital due to acute complications of diabetic ketoacidosis. Meanwhile, Our aim was to review known evidence about 48,XXYY. And what is known about the prevalence of diabetes in men with klinefelter syndroms, potential mechanisms underlying the observed metabolic phenotype.

目的 探讨钠-葡萄糖协同转运蛋白2(SGLT-2)抑制剂联合血管紧张素Ⅱ受体拮抗剂(ARB)对治疗2型糖尿病肾脏病(DKD)的疗效.方法 2型糖尿病性肾病患者90例,随机分为3组,每组各30例,分别接受厄贝沙坦(厄贝沙坦组)、恩格列净(恩格列净组)、厄贝沙坦联合恩格列净(联合治疗组)治疗,控制血糖水平一致,持续治疗12周,比较尿蛋白排泄率(UAE)、肾小球滤过率(eGFR)及体重等.结果 治疗后三组UAE、尿蛋白定量较治疗前均有下降(P<0.05),联合治疗组UAE和尿蛋白定量较其他两组明显降低(P<0.05);治疗后三组eGFR均有下降,联合治疗组eGFR下降率高于其它两组(P<0.05);且治疗后恩格列净组和联合治疗组体重明显降低(P<0.05).结论 厄贝沙坦和恩格列净均能减少DKD患者的蛋白尿,联合治疗效果优于单用;联合治疗后eGFR下降更明显;恩格列净减重作用优于厄贝沙坦;降压效果厄贝沙坦优于恩格列净.

目前慢性心力衰竭是危害全球人类健康的重要心血管疾病之一，为多种器质性心脏病的终末期临床表现，其高发病率和高致死率成为严重危害人类健康的疾病[1]。伴随我国进入老龄化社会，慢性心力衰竭的发病率逐年上升，因此如何做好社区慢性心力衰竭人群的管理，提高患者的生活质量是目前亟待解决的重要问题。本研究调查了社区慢性心力衰竭人群的特点及其管理对生活质量的提高作用，现报道如下。

患者,女,68岁. 因乏力、潮热、消瘦半年,反复咳嗽4个月,胸闷气促心悸半月,于2015年3月23日入院治疗. 患者半年来自觉乏力,怕热多汗,体质量减轻15kg,4个月前着凉后出现咳嗽,咯白脓痰,呈阵发性连声咳,伴饮水呛咳,多次于外院予抗炎平喘等对症治疗后,咳嗽咯痰较前好转. 半月前患者感胸闷气促心悸,活动后为主,休息后好转,伴夜间阵发性呼吸困难,偶有咳嗽,饮水呛咳,无痰,伴双下肢中度水肿. 既往有原发性胆汁性肝硬化1年余,一直口服熊去氧胆酸胶囊(优思弗)护肝利胆,有高血压病史8年,2型糖尿病3年余,否认病毒性肝炎病史,否认甲状腺疾病家族史.

OBJECTIVE To observe and analyze the influence of serum inflammatory factors on patients with coro‐nary heart diseases and to explore the clinical effect of Trimetazidine combined with Atorvastatin .METHODS Totally 148 patients with coronary heart disease were selected in the hospital from January .2014 to Apr .2015 , and they were randomly divided into the treatment group and the control group with 74 cases each .The control group was given routine treatment ,and the treatment group was given Trimetazidine combined with Atorvastatin treatment on the basis of the control group .Two groups were treated for four weeks as a treatment course .The clinical treatment effect was evaluated and SPSS 11 .0 was adopted for statistical analysis .RESULTS After the treatments ,the levels of TNF‐α,IL‐6 ,hs‐CRP in the treatment group were (19 .52 ± 2 .44) ng/ml ,(11 .78 ± 1 .90)pg/ml and(15 .20 ± 1 .97)mg/L respectively ,significantly lower than the control group of (36 .18 ± 2 .63) ng/ml ,(19 .93 ± 2 .06)pg/ml and(20 .11 ± 2 .38)mg/L .The level of serum inflammatory factors in both group de‐creased after the treatments and the differences were significant (P<0 .05) .The curative rate in the treatment group was 63 .51% ,significantly higher than the control group with 52 .70% (P<0 .05) .CONCLUSION Trimetaz‐idine combined with Atorvastatin have a good clinical efficacy in treating patients with coronary artery disease , they can shorten frequency and duration of angina pectoris ,and can significantly reduce the serum levels of inflam‐matory cytokines ,and promote the recovery of patients .

目的:探讨前列地尔联用血栓通注射液对糖尿病周围神经病变的治疗效果。方法:随机将78例糖尿病合并有周围神经病变患者分组为A、B两组,所有患者在严格控制空腹血糖和餐后血糖的基础上,A组给予前列地尔、血栓通注射液联合治疗,B组给予血栓通注射液对照治疗,比较两组患者治疗前、后症状体征和腓神经传导速度等方面的改善情况,综合判断其治疗效果。结果:两组患者经过8周治疗后,疗效差异具有统计学意义(P<0.05)。结论:前列地尔联用血栓通注射液治疗糖尿病周围神经病变有效率高,效果显著,值得临床推广应用。