Concordance for dyslipidemic hypertension in male twins

Sixty cases of dyslipidemic hypertension were identified in the 1028 middle-aged, white, male twin participants in the first examination of the National Heart, Lung, and Blood Institute Twin Study (1969 to 1973). The prevalence of dyslipidemic hypertension was similar by zygosity but proband concordance was three times greater in monozygotic than dizygotic twins (0.44 [seven concordant and 18 discordant pairs] vs 0.14 [two concordant and 24 discordant pairs]), suggesting a genetic effect on the condition. Low high-density lipoprotein cholesterol level was the most common lipid abnormality in concordant pairs. Mortality from ischemic heart disease was significantly higher in individuals with dyslipidemic hypertension. Obesity and glucose intolerance were closely associated with the syndrome. Moreover, within the 18 discordant monozygotic twin pairs, the twins with dyslipidemic hypertension had gained significantly more weight as adults and were significantly heavier than their unaffected cotwins. Thus, although genetic factors may influence development of dyslipidemic hypertension, nongenetic, potentially modifiable aspects of obesity are also closely related to expression of this clinically important syndrome.     

HLA AND INUSLIN-DEPENDENT DIABETES MELLITUS

Thirty-five insulin-dependent diabetes mel- litus (IDDM) patients and fifty-three normal in- dividuals were HLA-A,-B,-C, and -DR typed. Typing reagents were provided by the 2nd Asia and Oceania Histocompatibility Workshop Con- ference. Phenotype frequencies of the HLA-Iinked genetic marker variants including GLO, Bf and 02 were also determined. The results showed that All and CW4 were significantly decreased in patient group, DR2 was decreased with mar- ginal significance after correction, DR3 was in- creased with a deviation not significa.nt after correction, and most interestingly the frequency of DRw9 was very significantly increased in pa- tient group after corre.ctioln of the P value. The results suggest that DR3 and DRw9 appear to be two DR antigens linked with two IDDW suscep- tibility genes in Chinese population.     

Metabolic studies in unaffected co-twins of non-insulin-dependent diabetics

Forty-eight out of 53 non-insulin-dependent diabetic identical twin pairs were concordant for diabetes. In the five discordant pairs the diabetic twin had only recently been diagnosed. Oral glucose tolerance tests were carried out on the unaffected twins of the five pairs and on matched controls. Fasting concentrations of blood glucose (5.5 +/- 0.6 v 3.7 +/- 0.3 mmol/l; 99.1 +/- 10.8 v 66.6 +/- 5.4 mg/100 ml), haemoglobin A1 (mean 9.1%, range 8.8-9.2% v mean 7.9%, range 7.4-8.4%), lactate, alanine, and glycerol (0.090 +/- 0.017 v 0.045 +/- 0.008 mmol/l); and the lactate: pyruvate ratio were significantly higher in the twins than controls. After glucose challenge blood glucose, lactate, alanine, and glycerol concentrations and lactate: pyruvate ratio were increased in the twins. Insulin response was severely impaired, being almost absent in four of the five twins. The non-diabetic members of the discordant non-insulin-dependent diabetic pairs showed noticeable metabolic abnormalities which would later presumably deteriorate to frank diabetes. These findings, taken with the high concordance rate for non-insulin-dependent diabetic twins, suggest that non-insulin-dependent diabetes is predominantly, possibly entirely, inherited.     

Association of specific immune response to pork and beef insulin with certain HLA-DR antigens in type 1 diabetes

To test the association of HLA-DR antigens with high-responder and low-responder status to either beef or pork insulin, insulin antibodies in diabetic sera were separated into those with average low and those with average high affinity and their insulin-binding capacities for each insulin determined. Significantly less binding of pork insulin by the high affinity antibodies occurred in the group of patients with DR3 antigens compared with those with DR4 antigens (p less than 0.01) and DR3/4 antigens (p less than 0.01). The difference in the binding capacity of beef insulin by the high affinity antibodies between the groups with DR3 and DR4 antigens was less pronounced but still significant. The high-responder status of DR3/4 antigens to pork insulin suggests that the gene or genes associated with HLA-DR4, and responsible for a high response to pork insulin, are dominant to genes associated with HLA-DR3 and a low response. If extended to human insulin and different HLA-DR and HLA-B antigen patterns, these finding should help in the therapeutic selection of the appropriate insulin and thus reduce the induction of an anti-insulin response in patients with diabetes.     

上海社区糖尿病前期及糖尿病人群视网膜病变患病率及相关危险因素分析

目的 了解上海社区糖尿病前期(IGR)及糖尿病(DM)人群视网膜病变(DR)的患病率及相关危险因素.方法 于2005年6月至2006年3月对在上海市华阳及曹杨两个社区代谢综合征现况调查中获得的IGR和DM病人(共1300例)进行DR筛查,将完成调查并具有完整数据的642例病人(DM者391例,IGR者251例)纳入本次分析,其中男312例,女330例,平均年龄(65±13)岁.视网膜病变采用Canon CR-DGi免散瞳眼底照相机拍照法,并根据国际临床糖尿病视网膜病变严重程度的分级标准诊断.结果 社区DM病人DR患病率为19.9%(78例),其中轻、中、重度及增殖性DR的患病率依次为12.0%、5.1%、2.3%和0.5%;IGR人群的DR患病率为8.0%(20例).Logistic回归结果 见到糖尿病病程、糖化血红蛋白是DM病人合并DR的独立危险因素.结论 上海社区高血糖人群DR的患病率较高,IGR人群已有DR发生.病程长、血糖控制差均可增加DM病人发生DR的危险.     

Autoantibodies in Indian-Asians with insulin-dependent diabetes in the UK

Classical insulin-dependent diabetes mellitus (IDDM) is relatively uncommon in Indian-Asians whether in India or in the UK and this may be related to immunogenetic factors. We have studied the presence or absence of islet cell antibodies and other auto-antibodies in 36 subjects with IDDM and 41 controls, all of Indian origin. Islet cell antibodies (ICA-IgG) were found in 8 subjects with IDDM but in none of the controls. Four of the 8 patients with ICA-IgG also possessed the complement fixing variety (CF-ICA). There was no definite association between possession of ICA and HLA-DR antigens. Thyroid antibodies were commoner in patients (22%) compared with controls (7%) as were parietal cell antibodies (8.3% vs 4.8%). None of the patients or controls had adrenal antibodies. The frequency of organ-specific antibodies in Indian-Asians with IDDM is similar to that of white Caucasians. The overall frequency of ICA is, however, lower than that reported for white Caucasians although the temporal distribution is similar. We conclude that even though the prevalence of IDDM in Indian-Asians is lower than in white Caucasians there is no evidence that different immunological mechanisms are involved in the pathogenesis of IDDM in the two groups.     

Perinatal risk factors and neonatal complications in discordant twins admitted to the neonatal intensive care unit

Background Many studies have shown a relationship between birth weight discordance and adverse perinatal outcomes.This study aimed to investigate the perinatal risk factors and neonatal complications o...     

Prevalence and causes of blindness and diabetic retinopathy in Southern Saudi Arabia

Objectives:

To determine the prevalence and causes of blindness and diabetic retinopathy (DR) in Jazan district, Southern Saudi Arabia.

Methods:

Using the standardized Rapid Assessment for Avoidable Blindness (RAAB) and DR cross-sectional methodology, 3800 subjects were randomly selected from the population of ≥50 years of age in Jazan, Saudi Arabia between November 2011 and January 2012. Participants underwent screening comprised of interview, random blood glucose test, and ophthalmic assessment including visual acuity (VA) and fundus examination. Among participants with VA <6/18 in either eye, the cause(s) of visual impairment was determined. Participants were classified as diabetic if they had previous diagnoses of diabetes, or random blood glucose >200 mg/dl. Diabetic participants were assessed for DR using dilated fundus examination. All data were recorded using the RAAB + DR standardized forms.

Results:

The prevalence of bilateral blindness <3/60 was 3.3% (95% confidence interval [CI]: 2.74 - 3.90). Cataract was the leading cause of blindness (58.6%); followed by posterior segment diseases (20%), which included DR (7; 3.3%). The prevalence of diabetes mellitus (DM) was 22.4%, (95% CI: 21.09 - 23.79), among them; 27.8% had DR. The prevalence of sight-threatening DR was 5.7%.

Conclusion:

The prevalence of DM and the corresponding proportion of DR in this region is lower than that reported in other regions of Saudi Arabia. However, the prevalence of blindness not related to DR is relatively higher than the other studies.The Kingdom of Saudi (KSA) ranks seventh in the global burden of diabetes mellitus (DM), with an estimated prevalence of 23.5% for age groups 20-79 years.1 Ocular complications are quite common among diabetic patients. It is well established that within 15 years of diabetes approximately 2% of diabetics may turn legally blind, and approximately 10% may develop severe visual impairment. Diabetic retinopathy (DR) is one of the serious potential complications. It occurs in approximately 77% of the type 2 diabetics within 10 years of the diabetes onset, and almost in all type 1 diabetics.2 A global review of diabetic retinopathy reported that on average, 34.6% of all diabetic patients have some forms of DR.3 Recent studies in KSA have reported a high prevalence of DR among diabetics in different regions of the country. A recent population based study in Taif,4 in the Western region of KSA reported that 33% of all diabetics have some form of DR; while another hospital based study in the Madinah region reported the same estimate at 36%.5 With this high burden of the disease, the Saudi Ministry of Health (MoH) in collaboration with the Saudi National Prevention of Blindness Committee (NPBC) commissioned more studies to determine the magnitude of the problem in other regions of the vast country. Thus, a population-based survey was conducted to estimate both prevalence and pattern of DR, in addition to the magnitude and causes of blindness and visual impairment in the Jazan district, in the Southwestern region of KSA. Jazan covers an area of 11,670 Km², and has a population of 1,533,496 inhabitants. It lies to the Southwest coast of the Red Sea and is bordered by Yemen to the south. The study adopted the Rapid Assessment for Avoidable Blindness and Diabetic Retinopathy (RAAB+DR) technique, which is a survey methodology developed by the International Centre for Eye Health, London School of Hygiene and Tropical Medicine (ICEH-LSHTM), London, United Kingdom.6 The RAAB+DR is a simple and cost effective cross-sectional community-based survey of persons 50 years and older, that focuses primarily on the prevalence of avoidable blindness. It estimates the prevalence of blindness and visual impairment, their causes, and magnitude of DR in a specific geographical area, usually at the district, or province level. The RAAB+DR methodology has concrete proven reliability and validity.4,7     

糖尿病黄斑水肿患病率调查及相关因素分析

目的 调查糖尿病黄斑水肿（DME）患病率,并分析其相关因素。方法 对450例糖尿病患者进行病史收集和检查,确立糖尿病视网膜病变（DR）和DME诊断并进行DR分期和DME分型,分析DME患病率相关因素及不同类型DME与DR分期的关系。结果 450例糖尿病患者中,确诊DR患者168例,DME患者73例（患病率16.22%）。1型和2型糖尿病患者DME患病率分别为8.16%和17.21%,1型和2型糖尿病病程≥10年的患者DME患病率分别为15.39%和27.03%。局限型、弥漫型、缺血型和增生型DME在糖尿病患者中的患病率分别为7.56%、5.56%、0.44%和2.44%。Logistic逐步回归分析显示,糖尿病病程和DR分期是与DME患病率相关的独立因素,DR分期是与各型DME患病率相关的共同的独立因素。结论 随着糖尿病病程和DR病变程度的增加,DME患病率增加;DR病变程度与不同类型DME的患病率相关。     

HLA antigens and necrobiosis lipoidica diabeticorum--a comparison between insulin-dependent diabetics with and without necrobiosis.

To investigate whether HLA-A, -B, -C, and -DR alloantigen frequencies are different in diabetic patients with and without necrobiosis lipoidica diabeticorum we studied 37 insulin-dependent (Type I) diabetics, 15 with and 22 without necrobiosis, and 96 normal control subjects. Compared to controls Type I diabetics had increased frequencies of B8, CW3, and DR4 and decreased frequencies of DR5 and DR7. Diabetics with necrobiosis differed from diabetics without necrobiosis only in that HLA-A2 was significantly less frequent in patients with necrobiosis. It is suggested that the lack of major differences between patients with and without necrobiosis argues in favour of the role of metabolic and/or vascular rather than genetic factors in the aetiology of necrobiosis.     

DR antigens and rheumatoid arthritis: a study of two populations

Thr prevalence of HLA-DR antigens was determined in a group of white patients with rheumatoid arthritis, similar patients originating from the Indian subcontinent, and corresponding controls. Rheumatoid arthritis was found to be highly associated with DR4 in the white patients but with DR1 in the Indian patients. These results raise the possibility that the DR antigens themselves do not play a part in increasing susceptibility to rheumatoid arthritis, but the locus for increased susceptibility is probably closely linked to the DR locus.     

Relationship between HLA-DRB1 and DQ alleles and the genetic susceptibility to type 1 diabetes

Objective　To study the relationship between human leukocyte antigen (HLA)-DRB1 and DQ alleles and the genetic susceptibility of type 1 diabetes in North Chinese children. Methods　Polymerase chain reaction (PCR) techniques were used to amplify the second exon of DRB1 and DQ alleles, after which sequence specific olignucleotide probe (SSOP) dot blot hybridization techniques were used to analyze the amplified products. Results　DRB1*0301, DQA1*0301, DQB1*0201 alleles and DRB1*0301-DQA1*0501-DQB1*0201 haplotype were significantly increased in patients, while DQA1*0103 and DQB1*0601 alleles were significantly increased in controls. The distribution of DR4 and DR9 haplotypes in patients and controls were not significantly different, but DR3/DR4 and DR4/DR9 heterozygotes were significantly increased in patients. Conclusions　DRB1*0301, DQA1*0301 and DQB1*0201 confer susceptibility while DQA1*0103 and DQB1*0601 confer protection to type 1 diabetes. DRB1*0301-DQA1*0501-DQB1*0201 haplotype offers a predisposition to type 1 diabetes in North Chinese. Although the distribution of DR4 and DR9 in patients and controls had no significant difference, DR3/DR4 and DR3/DR9 heterozygotes were significantly increased in patients, showing that the susceptive effects of DR3 and DR4 or DR4 and DR9 haplotypes could be added up.     

糖尿病患者病情与泪膜改变的相关性研究

目的探讨糖尿病病程、血糖控制状况以及糖尿病视网膜病变与眼表泪膜功能改变的相关性。方法分别对50例2型糖尿病患者共100眼进行荧光素染色(FL),泪膜破裂时间(BUT)测定和基础泪液分泌(Schirmer-I)试验,将检测结果与糖尿病病程、血糖控制状况以及糖尿病视网膜病变情况进行相关性分析。结果BUT、FL积分、Schirmer-I试验结果与糖尿病病程、血糖控制状况以及糖尿病视网膜病变程度均具有显著相关性(P<0·01);BUT、Schirmer-I试验与糖尿病病程、血糖控制状况以及糖尿病视网膜病变呈负相关性,FL积分与糖尿病病程、血糖控制状况以及糖尿病视网膜病变呈正相关性;其中BUT、FL积分与糖尿病病程、及糖尿病视网膜病变的相关性更显著。结论糖尿病患者存在泪膜功能的损害,糖尿病病程、血糖控制状况和糖尿病视网膜病变的情况直接影响泪膜功能的损害的程度。     

Triad of markers for identifying children at high risk of developing insulin-dependent diabetes mellitus

A longitudinal investigation was conducted from 1977 to 1984 on 178 families in which one or more of the children had insulin-dependent diabetes mellitus. Of 351 nondiabetic sibs followed up for an average of 54 months, ten have, thus far, become diabetic. Eight sibs were HLA identical to their diabetic proband and nine had HLA-DR3 and/or HLA-DR4. Islet cell surface antibody and islet cell cytoplasmic antibody were found from two to 74 months before the onset of clinical diabetes in 100% and 90%, respectively, of the children. A decrease in insulin secretion was observed in all of these children on entry into the study and was detected in the absence of elevated plasma glucose concentrations. The data suggest that the triad of HLA identity, pancreatic islet cell antibodies, and depressed insulin secretion identifies those sibs who are at high risk of developing insulin-dependent diabetes mellitus.     

北京市昌平区自然人群糖尿病视网膜病变患病率调查及危险因素分析

目的了解北京市昌平区自然人群糖尿病视网膜病变(diabetic retinopathy,DR)患病率及相关危险因素。方法根据2010年"昌平区卫生与人群健康状况调查",采用从166万昌平区常住自然人群中随机抽样18岁～79岁的8 155例健康受试者,其中3 760例空腹血糖≥5.6 mmol/L者参加本研究,最终2 551例受试者完成体格检查和血液生化指标的测定,包括空腹血糖(fasting plasma glucose,FPG),OGTT-2h血糖(oral glucose tolerance test 2h plasma glucose,OGTT-2hPG)和糖化血红蛋白(hemoglobin A1c,HbA1c),以及眼底检查,所有人选进行散瞳45°彩色眼底照相,以评价DR分级。结果 2 551例受试者中,已知糖尿病患者280例,新诊断糖尿病患者334例,糖调节受损(impaired glucose regulation,IGR)者853例。糖尿病和IGR患者的DR患病率分别为9.9%和1.2%。新诊断糖尿病患者DR患病率(2.7%)明显低于已知糖尿病患者(18.6%)。在糖尿病患者中,DR的发生与糖尿病病程[OR=1.49(95%CI:1.38～1.62)]、空腹血糖[OR=1.32(95%CI:1.22～1.43)]、2 hPG[OR=1.18(95%CI:1.12～1.24)]、HbA1c[OR=1.66(95%CI:1.45～1.90)],以及收缩压水平[OR=1.16(95%CI:1.02～1.31)]显著相关。结论本研究人群糖尿病和糖尿病前期患者DR患病率明显低于西方国家。糖尿病患者DR发生的主要危险因素是糖尿病病程、高血糖和高血压。     

妊娠早期不同一性发育双胎的妊娠结局

目的:评估双胎妊娠早期两胎儿不同一性发育的妊娠结局.方法:回顾性研究在216对双胎妊娠中共有19例(不同一组),41例为对照组.用方差分析和Fisher's exact test比较两组胎儿生长受限(IUGR)发生率、新生儿不同一性发生率和早产发生率情况.结果:不同一组IUGR发生率、新生儿不同一性发育发生率以及早产发生率分别为57.2%,35.7%,78.6%,显著高于对照组24.4%,7.5%和30%(P值分别为0.03,0.02和0.01),不同一组先天畸形的发病率高于对照组,当双胎不同一性比率(A-B/A)＞25%时,有显著性差异(P=0.039).所有发现的畸形均为易于识别的严重畸形.结论:双胎不同一性发育可发生于妊娠早期.双胎不同一性程度＞25%时,胎儿畸形率增高且为易识别的显著畸形.早期不同一性发育双胎的IUGR发生率、新生儿不同一性发生率和早产发生率均增高.     

糖尿病患者病情与泪膜功能和角结膜上皮改变的相关性分析

目的：探讨糖尿病患者病程、血糖控制状况以及糖尿病视网膜病变与泪膜功能和角结膜上皮改变的相关性。方法：分别测定54例（108眼）2型糖尿病患者（糖尿病组）和30例（60眼）对照组泪膜破裂时间（BUT），行基础泪液分泌（Schirmer-I)试验、角膜荧光素染色（FL）、结膜印迹细胞学（CLC）检查，并将检测结果与糖尿病病程、血糖控制状况以及糖尿病视网膜病变情况进行相关性分析。结果：糖尿病组BUT值、Schirmer-I试验值均低于对照组，且BUT值、Schirmer-I试验异常率均高于对照组（均P＜0．05）。糖尿病组较对照组结膜上皮细胞鳞状化生级别增加、杯状细胞密度下降，且角膜FL累积分增加（均P＜0．01）。糖尿病病程、血糖控制状况以及糖尿病视网膜病变严重程度与BUT值、Schirmer-I试验值、结膜上皮细胞鳞状化生级别、杯状细胞密度和角膜FL累积分间有显著的相关性（均P＜0．01）。结论：糖尿病患者存在泪膜功能的损害以及角结膜上皮的损害，且糖尿病病程长、血糖控制状况差和糖尿病视网膜病变严重者，损害程度亦重。     

糖尿病及其视网膜病变患者对蛋氨酸负荷试验的异常反应

目的　探讨 2型糖尿病 (DM)及其视网膜病变 (DR)患者对蛋氨酸负荷 (PML)试验的反应 ;并探讨PML试验对高同型半胱氨酸血症 (Hhcy)的诊断价值及同型半胱氨酸 (Hcy)致血管损害的可能机制。方法　对 17例DR患者、15例单纯DM患者 (NDC)及 2 8例正常对照 (CON)进行了PML试验 ,荧光偏振免疫分析法测定空腹Hcy (Fhcy)及PML后 4h血浆Hcy浓度 (Phcy) ,测空腹血浆叶酸、维生素B12 ,并以PCR RFLP技术检测亚甲基四氢叶酸还原酶 (MTHFR)C6 6 7T突变 ,测定空腹血糖、餐后血糖、尿素、肌酐、胆固醇、甘油三酯以及HbA1c等生化指标 ,以Griess法测定空腹PML后 4hNO代谢终产物。结果　DM各组体重指数、HbA1c及PBG高于CON组 (P <0 0 5 ) ;DR组和NDC组Fhcy分别为 13 9± 1 4和 11 6± 1 3μmol/L ,高于CON组的 8 8± 1 4 μmol/L。DR组Phcy(37 3μmol/L)、PML前后Hcy差值 (2 4 4 μmol/L)和MTHFRBB基因型 (9/ 17)均高于CON组的 2 2 7μmol/L、15 1μmol/L和 5 /2 8以及NDC组的 2 5 0 μmol/L、14 3μmol/L和 2 / 15。以Fhcy为标准确定的Hhcy发病数为 9例 ,而以PML后的Phcy为标准发病数则为 15例 ;结合两者计算Hhcy发病率 ,DR组高于NDC组 ,两者又高于CON组 (P <0 0 0 1)。餐后NO代谢产物浓度明显高于空腹 ,而且血浆Hcy与     

Family study of the major histocompatibility complex in patients with systemic lupus erythematosus: importance of null alleles of C4A and C4B in determining disease susceptibility

The families of 29 patients with systemic lupus erythematosus and 42 normal subjects were studied to determine the inheritance of the HLA-A, B, C, and DR antigens and also the complement polymorphisms for C2, C4A, C4B, and Bf, which are encoded in the same region of the sixth chromosome. Null (silent) alleles for C4A, C4B, or C2 were found in 24 of the 29 (83%) patients compared with 18 of the 42 (43%) normal controls. HLA-DR3 was present in 20 (69%) of the patients and seven out of 39 (18%) of the normal controls. There was strong linkage disequilibrium between DR3 and the null alleles for C4A and C4B. The data did not permit the relative contributions of DR3 and null factors of C4A and C4B as genetic risk factors to be distinguished. The known association of systemic lupus erythematosus with uncommon inherited and acquired deficiencies of complement components suggests, however, that the presence of null alleles for C4A and C4B, as well as C2, found in most of the patients, is relevant to their genetic susceptibility to this disease.     

新诊断2型糖尿病患者视网膜病变患病率及危险因素调查：东莞眼病研究

目的：调查分析广东省东莞市横沥镇40岁及以上常住户籍居民新诊断2型糖尿病患者糖尿病视网膜病变患病率及其危险因素。方法以人群为基础的横断面流行病学调查。对广东省东莞市横沥镇1个社区和16个行政村,40岁及以上户籍常住居民进行普查。调查内容包括：基本信息、问卷调查、身体测量、实验室检查以及系统眼科检查。所有糖尿病患者均接受眼底照相检查。统计分析新诊断2型糖尿病患者糖尿病视网膜病变的患病率及危险因素。结果8952人参与糖尿病筛查和眼科检查,应答率为80．06％,新诊断2型糖尿病患者1072人,占71．09％,平均年龄为（58．94±7．74）岁,糖尿病视网膜病变患病率为12．64％。 Logistic逐步回归分析结果显示男性和糖化血红蛋白（≥6．5％）是影响新诊断2型糖尿病患者发生糖尿病视网膜病变的独立危险因素。结论广东省东莞市横沥镇40岁及以上常住户籍居民中新诊断2型糖尿病患者糖尿病视网膜病变患病率为12．64％,建议对新诊断2型糖尿病患者进行早期眼底筛查,尤其需要关注男性和糖化血红蛋白异常患者。