家族性混合型高脂血症家系血浆载脂蛋白B与脉压相关关系的研究

目的　探讨家族型混合性高脂血症 (FCHL)家系中血压表型 (收缩压、舒张压、平均动脉压及脉压 )的影响因子及家族性脂质异常性高血压 (FDH)家系的分布特征。方法　从北京地区搜集 4 2个FCHL家系 (共 4 35人 ) ,其中确诊了 11个FDH家系。采用多元线性逐步回归方法 ,分析FCHL家系年龄介于 30～ 6 0岁之间的家系成员 (共 2 37人 )血压表型的影响因子。结果　FCHL亲属脂质异常性高血压的患病率为 2 9 9% ,配偶的患病率为 8 9% ,危险度优势比为 3 37(95 %CI为1 4 4～ 8 14 ,P <0 0 1)。FCHL家系中体重指数、年龄、血糖与收缩压、舒张压及平均动脉压相关 (P<0 0 5 ) ;年龄、载脂蛋白B与脉压相关 (P <0 0 5 )。结论　体重指数、血糖升高可以增加FCHL家庭成员高血压的易患性 ,载脂蛋白B升高是脉压增加的一个独立的危险因素。     

家族性预激综合征（附1家系5例报告）

预激综台征(W-P-W综台征)已被临床所熟知，但呈家系发病尚少报道。现将我们发现的一个家系发病加以报告。     

家族性预激综合征伴心室条索家系调查

家族性预激综合征(WPW综合征)偶有报告，而家族性WPW综合征伴发心室条索(LVB)尚未见报道。我们曾收治1例反复阵发性心悸患者后，发现其家系4代60个成员中患WPW综合征14例，LVB11例，现报告如下。     

家族性混合型高脂血症与人类染色体1q21-23连锁

目的 利用中国和德国非隔离人群家族性混合型高脂血症家系证实家族性混合型高脂血症与人类１号染色体是否存在连锁位点。方法 从德国搜集２４个（１３３人）及中国１２个（８１个）家族性混合型高脂血症家系,选择４个微卫星遗传标记ＡｐｏＡ２、Ｄ１Ｓ１６７７、Ｄ１Ｓ１０４和Ｄ１Ｓ１９４,利用ＧＥＮＥＨＵＮＴＥＲ软件包进行多点连锁分析。结果 多点连锁分析显示Ｄ１Ｓ１０４附近的遗传标记Ｄ１Ｓ１９４有最大ＬＯＤｓｃｏｒ     

家族性高胆固醇血症大家系在两个世纪中的死亡率：家系死亡率研究

目的 :评估未经治疗的无冠状动脉疾病的家族性高胆固醇血症所有原因的死亡率。设计 :家系死亡率研究。背景 :荷兰的一个大家系 ,其宗亲源自 19世纪一对夫妇。先证者 :家族中所有超过 2 0岁且有 5 0 %可能性携带家族性高胆固醇血症突变基因者。主要结果测定指标 :各种原因的死亡率。结果 :分析自 6 95 0人年的 2 5 0人中共死亡的70人。突变基因携带者的死亡率在 19世纪和 2 0世纪早期并未升高 ,1915年后开始升高 ,1935～196 4年达到高峰 (标准化死亡率比 1 78,95 %可信区间 1 13～ 2 76 ,P =0 0 0 3) ,以后下降。家系的两大分支间死亡率有显著性差异 (相对危险性3 2 6 ,95 %可信区间 1 74～ 6 11;P =0 0 0 1)。结论 :家族性高胆固醇血症患者间的死亡危险性差异显著。这种时间上及家系的不同分支间的巨大差异表明环境因素与基因有强大的相互作用。有必要进一步研究以识别那些极高危并需早期和强力预防措施的家族性高胆固醇血症患者。     

家族性肥厚型心肌病家系的HLA分型及其临床意义探讨

家族性肥厚型心肌病是常染色体显性遣传病，该文报导家族性肥厚型心肌病（ＦＨＣ）３个家系，并对３个家系中全部成员进行ＨＬＡＤＱＡ１－ＤＱＢ１基因分型，确定其以ＤＱＡ１－ＤＱＢ１单倍型。结果显示３个家系中，每个家系的第Ⅱ代所有患病同胞与第Ⅰ代表病双亲间共有一个相同的ＤＱＡ１－ＤＱＢ１单倍型，而第Ⅱ代未患病同胞则不带有这个单倍型。     

血脂水平同高脂血症性重症急性胰腺炎病情的相关性研究

目的:探讨血脂水平同高脂血症性重症急性胰腺炎病情的相关性。方法:回顾性分析63例高脂血症性重症急性胰腺炎患者的临床资料,根据患者血清三酰甘油(TG)的水平分为A组33例(极高TG组,TG>11.30 mmol/L)、B组30例(高TG组,TG 5.60~11.30 mmol/L),对其临床资料进行比较。结果:A组患者C-反应蛋白(CRP)水平、血尿酸水平及急性生理与慢性健康评分(APACHEⅡ评分)显著高于B组,血钙水平显著低于B组,差异具有统计学意义(P<0.05)。结论:血脂水平同高脂血症性重症急性胰腺炎病情严重程度呈正相关,控制其血脂水平是治疗的关键所在。     

高脂血症性胰腺炎与代谢综合征的关系探讨

目的:分析高脂血症性胰腺炎(HLAP)与代谢综合征之间的关系.方法:回顾性分析5年来收治的34例HLAP的临床资料,并进行门诊随访,收集MS相关资料进行分析.结果:HLAP患者随访期间多数仍存在血脂异常,以甘油三酯升高为主,平均BMI为27.14±4.04kg/m2,肥胖者(BMI>25kg/m2)占75.9%,BMI≥30kg/m2者占20.7%.平均腰围90.72±7.63cm.合并高血压者占30.8%,合并糖尿病者占61.5%,合并脂肪肝者占92.3%.合并代谢综合征者占57.7%.结论:HLAP患者合并代谢综合征的比例很高,为心血管疾病高风险人群.应加强健康教育,积极防治代谢综合征,以降低心血管疾病的发生风险.     

工作压力与代谢综合征有关

工作压力是导致代谢综合征的重要危险因素。在Chandola和他的同事完成的一项前瞻性队列研究中，伦敦服务机构招募了10000名以上男性和女性，从他们35。55岁时的基线水平开始追踪随访14年。存在慢性工作压力者发生代谢综合征的人数是没有工作压力者的2倍（oddsratio2．25，95％CI1．31—3．85）。该证据提示日常生活的心理社会压力与心脏病之间似乎确实存在生物学关联。（BMJ2006；332：521）     

工作压力与代谢综合征有关

工作压力是导致代谢综合征的重要危险因素。在Chandola和他的同事完成的一项前瞻性队列研究中，伦敦服务机构招募了10000名以上男性和女性，从他们35～55岁时的基线水平开始追踪随访14年。存在慢性工作压力者发生代谢综合征的人数是没有工作压力者的2倍（odds ratio2．25，95％CI1．31～3．85）。该证据提示日常生活的心理社会压力与心脏病之间似乎确实存在生物学关联。     

代谢综合征对睡眠呼吸的影响

目的 研究代谢综合征患者中阻塞性睡眠呼吸暂停低通气的改变及相关因素.方法 选择住院2型糖尿病患者中符合代谢综合征诊断标准的患者16例,进行连续7 h的夜间多导睡眠图监测(PSG),记录睡眠呼吸暂停低通气指数(AHI)及夜间最低血氧饱和度(L-SaO2).测定体质指数(BMI)、血压,并进行葡萄糖耐量试验,测定血糖、C肽、胰岛素、糖化血红蛋白、血脂、凝血功能.以稳态模型公式计算胰岛素抵抗指数(HOMA-IR).结果 16例患者中符合阻塞性睡眠呼吸暂停综合征(OSAHS)诊断的有10例(轻度3例,中度5例,重度2例),占62.5%.AHI与BMI(r=0.796)、腰围(r=0.656)、腰臀比(r=0.606)及载脂蛋白Al(r=0.526)呈正相关(P值均<0.05),与三酰甘油、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇、糖化血红蛋白、HOMA-IR均不相关(P值均>0.05).AHI与活化部分凝血活酶时间呈负相关(r=-0.548,P=0.034).L-SaO2与腰围(r=-0.537)、BMI(r=-0.694)、腰臀比(r=-0.691)呈负相关(P值均<0.05).结论 代谢综合征患者的OSAHS发生率高于普通人群.中心性肥胖是OSAHS的高度因子.OSAHS存在显著的血栓形成高危因素.中心性肥胖可能是代谢综合征患者OSAHS高发的关键因素.     

Ghrelin receptor gene polymorphisms are associated with female metabolic syndrome in Chinese population

Background The ghrelin plays an important role in the regulation of food intake and energy homeostasis. Therefore, the ghrelin receptor gene （GHSR） is an excellent candidate for studying metabolic syndrome. This study aimed to investigate whether polymorphisms in ghrelin receptor gene are associated with metabolic syndrome in Chinese population. Methods Subjects consisted of 698 patients aged 41 to 80 years, diagnosed as metabolic syndrome by International Diabetes Federation （IDF） 2005 criteria, and 762 age- and gender-matched controls. Three variants within the GHSR were selected and genotyped using polymerase chain reaction （PCR） and restriction fragment length polymorphism （RFLP）. Odds ratios were estimated using a case-control study design by controlling confounding factors. Results The NA genotype （rs2922126） in the promoter was associated with metabolic syndrome （OR 1.41, 95%C/ 1.03-1.94）, increased waist circumference （OR 1.75, 95%C/1.26-2.42）, and increased fast blood glucose （OR 1.49, 95%CI 1.07-2.06） in women. The NA genotype （rs509030） in the intron was associated with lower plasma high density lipoprotein in women （OR 1.37, 95%C/1.02-1.84）. Conclusion The polymorphisms within GHSR might be a genetic risk factor for metabolic syndrome in women.     

Prenatal sonographic diagnosis of familial Holt-Oram syndrome associated with type B interrupted aortic arch

We present a rare case of familial Holt-Oram syndrome diagnosed sonographically at 18 weeks of gestation. The foetus had serious bilateral upper limb malformations, a ventricular septal defect and a type B interrupted aortic arch, while the mother had bilateral upper limb malformations only. The pregnancy was terminated. A pathological and radiological examination of the foetus confirmed the prenatal sonographic findings. Although genetic investigation of TBX5 mutations was not available in our locality at the time of diagnosis, the geneticists made a clinical diagnosis of familial Holt-Oram syndrome. The clinical features of our case completely fulfilled the strict diagnostic criteria for the syndrome. The cardiac malformations most commonly associated with Holt-Oram syndrome are atrial or ventricular septal defects. To the best of our knowledge, a prenatal diagnosis of Holt-Oram syndrome in association with a type B interrupted aortic arch has not been reported in the English literature before.     

Microalbuminuria associated with systolic blood pressure and arterial compliance in Chinese metabolic syndrome patients

Background There is significant evidence showing that microalbuminuria and arterial compliance are sensitive markers for early cardiovascular diseases. However, whether microalbuminuria is associated with reduced arterial compliance in Chinese metabolic syndrome (MS) patients remains unknown.Methods According to the definition of MS proposed by ATPⅢ in 2001,USA, subjects (n=362) were divided into three groups according to the number of risk factors: group 1 (control), group 2 (medium, &lt; 3 risk factors) and group 3 (MS, ≥ 3 risk factors). Both large artery compliance (C1) and small artery compliance (C2) were measured with the CVProfilor DO-2020 Cardiovascular Profiling System, and microalbuminuria was evaluated with the ratio of albumin to urine creatinine.Results (1) As C1 and C2 levels elasticity decreased, albumin creatinine ratio (ACR) and the prevalence of microalbuminuria increased within those groups with MS risk factors. C1 and C2 were negatively correlated with the ranking of MS risk factors, ACR was positively correlated with the ranking of MS risk factors (all P&lt;0.05). (2) Subjects were also categorized into a microalbuminuria group and a normal group, C1 and C2 in the microalbuminuria group were lower than in the normal group. (3) Multivariate regression analysis showed that increased systolic blood pressure (SBP) and reduced arterial compliance were the main risk factors for microalbuminuria in the MS group. Conclusions The risk of developing microalbuminuria was higher in the subjects with multiple metabolic abnormalities. Increased systolic blood pressure and reduced arterial compliance may be the main predictors for microalbuminuria in MS.     

Apolipoprotein B/apolipoprotein A-I ratio in relation to various definitions of metabolic syndrome among Saudi patients with type 2 diabetes mellitus

OBJECTIVE: To assess if the apolipoprotein (Apo) B/Apo A-I ratio in Saudi patients with type 2 diabetes mellitus (T2DM) is associated with metabolic syndrome (MetS). METHODS: This cross-sectional study was conducted on 250 patients with T2DM, above 40 years of age, at King Abdulaziz University Hospital Diabetes Center in Riyadh, Saudi Arabia, between January and December 2006. Metabolic syndrome was defined, and compared according to 3 criteria, namely, National Cholesterol Education Program Adult Treatment Panel III, International Diabetes Federation, and World Health Organization. RESULTS: In the 250 patients studied, all 3 definitions demonstrated significant increase in the Apo B/Apo A-I ratio, in Saudi type 2 diabetics with the MetS. There was a strong positive correlation between the Apo B/Apo A-I ratio and triglycerides, low-density lipoprotein cholesterol, and total cholesterol (r=0.43-0.54, p<0.0001), and a weak, yet significant, correlation (r=0.14-0.21, p<0.05) with waist circumference, waist-hip ratio, fasting glucose, and hemoglobin A1c, however, not with body mass index (r=0.01, p=0.88). In contrast, the ratio showed strong negative correlation with high-density lipoprotein cholesterol (r = -0.7, p<0.0001). CONCLUSION: Apolipoprotein B/apolipoprotein A-I ratio is significantly associated with MetS in Saudi patients with T2DM, similar to observations made in other ethnic groups.     

Cerebrovascular atherosclerosis in type III hyperlipidemia is modulated by variation in the Apolipoprotein A5 gene

Objective

Type III Hyperlipoproteinemia is a rare lipid disorder with a frequency of 1-5 in 5000. It is characterized by the accumulation of triglyceride rich lipoproteins and patients are at increased risk of developping atherosclerosis. Type III HLP is strongly associated with the homozygous presence of the ε2 allele of the APOE gene.However only about 10% of subjects with APOE2/2 genotype develop hyperlipidemia and it is therefore assumed that further genetic and environmental factors are necessary for the expression of disease. It has recently been shown that variation in the APOA5 gene is one of these co-factors. The aim of this study is to investigate the development of cerebrovascular atherosclerosis in patients with Type III hyperlipoproteinemia (Type III HLP) and the role of variation in the APOA5 gene as a risk factor.

Methods

60 patients with type III hyperlipidemia and ApoE2/2 genotype were included in the study after informed consent. The presence of cerebrovascular atherosclerosis was investigated using B-mode ultra-sonography of the carotid artery. Serum lipid levels were measured by standard procedures. The APOE genotype and the 1131T > C and S19W SNPs in the APOA5 gene and the APOC3 sstI SNP were determined by restriction isotyping Allele frequencies were determined by gene counting and compared using Fisher''s exact test. Continuous variables were compared using the Mann Whitney test. A p value of 0.05 or below was considered statistically significant. Analysis was performed using Statistica 7 software.

Results

The incidence of the APOA5 SNPs, -1131T > C and S19W and the APOC3 sstI SNP were determined as a potential risk modifier. After correction for conventional risk factors, the C allele of the 1131T > C SNP in the APOA5 gene was associated with an increased risk for the development of carotid plaque in patients with Type III HLP with an odds ratio of 3.69. Evaluation of the genotype distribution was compatible with an independent effect of APOA5.

Conclusions

The development of atherosclerosis in patients with Type III HLP is modulated by variation in the APOA5 gene.