原发性高血压的遗传异质性研究

用分离分析方法对１６１个原发性高血压患者核心家系进行了遗传异质性分析。结果表明原发性高血压存在遗传异质性，有些家系为常染色体显性遗传，外显不全，外显率为８８．１％；有些家系为散发的。本组家系中，常染色体显性外显不全家系占８２．８％，散发家系占１７．１２％。     

成骨不全症病因探讨(附11例生化检测结果)

报道了两例回族成骨不全先证者各各的常染色体显性遗传和常染色体隐性遗传家系。结合两家系中的11例患者,进行了临床激素检测,钙、磷生化检验和染色体核型分析等方面的内分泌和代谢的病因学探讨。     

先天性无虹膜家系致病基因的突变检测

目的 对一常染色体显性遗传的先天性无虹膜( AN)家系进行PAX 6基因突变筛查,以确定其致病基因及致病突变.方法 收集一常染色体显性遗传的AN家系,采集该家系患者、家族健康成员外周静脉血,提取基因组DNA,应用聚合酶链式反应( PCR)方法扩增PAX 6 基因exon 4 ~exon 13共11个外显子以及外显子-内含子拼接部,将纯化后的PCR扩增产物直接测序,运用DNAStar软件(综合性序列分析软件)对测序结果进行序列分析,检测PAX 6基因的突变类型,并与80名随机抽取的与该家系无血缘关系的健康人PAX 6基因序列进行比对. 结果 该家系患者PAX 6 基因exon 11存在一个杂合突变c. 949 C>T(P. R 317 X),导致第317位精氨酸的密码子CGA被终止密码子UGA替代,造成编码PAX 6蛋白的过早终止,而该家系其他健康成员及80名与该家系无血缘关系的健康对照组成员均未检测到该突变. 结论 PAX 6基因c. 949 C>T( P. R 317 X)突变导致PAX 6蛋白提前编码终止是该常染色体显性遗传先天性无虹膜家系的致病原因.     

先天性肌强直家系24例临床分析

先天性肌强直发病率为0.3～0.6/10万[1],常见有2种遗传类型:Thomsen病-常染色体显性遗传[2];Becker病-常染色体隐性遗传[3],均表现为骨骼肌在随意收缩或刺激而收缩后出现肌强直,不易立即放松,Becker型较Thomsen型起病较晚,且有的在肌肉用力后有短暂的肌无力现象.该病在临床上极为罕见,国内仅有零星的家系报道,本研究中作者报道了有24例患者的常染色体显性遗传的先天性肌强直家系,并对所有患者进行临床分析.     

非综合征型少牙畸形的临床特征

目的对少牙畸形患者进行临床检查和系谱分析,总结先天缺牙的遗传方式和临床特征。方法收集少牙畸形病例,对患者及家系成员进行口腔检查,摄曲面断层片;了解家族史,绘系谱图;进行分析总结。结果先天性少牙畸形有家族性的,也有散发的,患者常伴有余留牙的形态异常、前牙间散在间隙。家族性缺牙患者多为常染色体显性遗传,仅有1例为常染色体隐性遗传。结论先天缺牙家系多为常染色体显性遗传;遗传表现包括缺牙牙位、牙冠形态等;先天缺牙严重影响患者的口腔健康及咬合关系,危害患者身心危害。     

脊髓小脑性共济失调一家系的遗传学研究

目的对一个常染色体显性遗传的脊髓小脑共济失调家系(spinocerebellar ataxias,SCA)进行基因诊断并探讨其临床特点。方法完成家系调查和系谱分析,通过聚合酶链式反应和直接测序的方法对收集到的家系成员进行脊髓小脑性共济失调致病基因CAG三核苷酸重复数目的检测。结果该家系呈常染色体显性遗传模式,家系中3名患者均于30岁后逐渐表现为行走不稳、饮水呛咳、言语不清等共济失调的临床特征。对所有家系成员进行基因诊断,结果发现,SCA2和SCA3致病基因的CAG重复数目均在正常范围内;而家系中3名患者SCA1致病基因出现异常等位基因,CAG扩增次数分别为43、48和51次,另有2名成员GAG重复次数分别为53次和50次,诊断为症状前患者。结论该家系为三核苷酸重复序列(CAG)动态突变引起的常染色体显性遗传脊髓小脑共济失调Ⅰ型,基因诊断还发现家系中2名症状前患者。     

常染色体显性遗传多囊肾一家系15例

目的:了解常染色体显性遗传多囊肾的家族聚集性,探讨其患病情况、患病规律及治疗用药.方法:运用谱系图,报道常染色体显性遗传多囊肾(ADPK)一家系,共追溯五代.结果:家族中患病者男6人,女9人,符合常染色体显性遗传规律.家族中ADPK病人对高血压等并发症未能正确用药及系统治疗.结论:家系调查对开展遗传咨询、优生指导有重要意义.ADPK的早期诊断和早期系统治疗,可改善预后、提高病人生存质量,应提高患病人群对相关知识的掌握.     

先天性核性白内障的遗传

本文报告3个家系、17例患者34眼先天性核性白内障,家系1、2的遗传方式为常染色体显性遗传,家系3为常染色体隐性遗传。本病可以与其它遗传病同时发生(如高度近视、大脑发育不全等),也可以并发其它遗传病(如红绿色盲等)。目前认为本病的发生要经过晶体内脱水收缩、增加异常结构成份和减少游离的晶体蛋白质聚集物三个过程。     

精神发育迟滞伴发畸型的遗传方式分析

采用分离分析等遗传病学方法，从父母婚配型角度对１０７例精神发育迟滞伴发畸型的家系进行了分析，结果表明：Ｕ×Ｕ多发家庭接受常染色体显性遗传；Ｕ×Ｕ总体婚配型符合常染色体隐体遗传；Ｕ×Ａ婚配型符合常染色体显性遗传，不完全外显     

遗传性肾炎研究获得进展

近日 ,上海第二医科大学附属瑞金医院肾脏内科进行国内最大组遗传性肾炎的研究 ,对 2 7个家系 5 2 9个成员的调查、检测 ,发现 5 3例为遗传性肾炎患者 ,其中男 32例 ,女 2 1例 ;死亡 2 1例 ,14例为男性。该院肾脏内科对这 2 7个家系进行了进一步的研究 ,确定了以 X伴性显性 XD遗传的有 11个家系 ,符合常染色体显性 (AD)及常染色体隐性 (AR)遗传的分别为 6个和 1个家系 ,4个家系的遗传方式按照现有的资料暂时不能确定。该病多发于儿童及青少年 ,10岁以前发病的占 43.7% ,诱发因素多为感染、劳累等。这类遗传性肾病出现肾衰竭的男性远多于…     

原发性开角型青光眼患者手术前后焦虑抑郁情绪的影响因素分析

目的:分析原发性开角型青光眼(POAG)患者术前及术后1个月焦虑抑郁情况的影响因素?方法:收集POAG患者83例,分别在抗青光眼手术前采用低视力者生存质量量表(LVQOL)?汉密尔顿焦虑量表(HAMA)及汉密尔顿抑郁量表(HAMD)?家庭支持量表进行测试,术后1个月采用HAMA?HAMD和LVQOL进行测试?正常人83例作为对照组,采用HAMA?HAMD进行测试?评价POAG患者术前及术后1个月焦虑和抑郁的伴发率,并对年龄?性别?家庭支持?文化程度等影响因素进行分析?结果:83例POAG患者,术前焦虑及抑郁的伴发率分别为59.0%和30.1%,术后1个月焦虑及抑郁的伴发率分别为20.5%和15.7%?对照组焦虑及抑郁的伴发率分别为8.4%和4.8%?男性?家庭支持高者,术前HAMA评分低;男性?年龄小?术前生活质量高?家庭支持高者,术前HAMD评分低?Logistic回归分析显示,年龄?生存质量是术后1个月焦虑情绪的影响因素(P = 0.027,P = 0.009);生存质量是术后1个月抑郁情绪的影响因素(P = 0.047)?结论:POAG患者术前?术后1个月发生焦虑?抑郁为多种影响因素共同作用的结果,应引起临床医师重视,尽早给予心理干预?     

Genetic and environmental risk factors for primary open-angle glaucoma

Glaucomaisacomplexandprogressivedisorderoftheopticnervesandaleadingcauseofvisualfielddefectsandblindnessindevelopedcountries Primaryopen angleglaucoma (POAG)isthemostcommontypeofglaucomainmanypopulations ,accountingformorethan 5 0 %ofglaucomaindevelopedcountries 1　Itisgeneticallyheterogeneous ,andtheunderlyingmolecularmechanismstillunknown 2 ,3　InmanyAsianpopulations,primaryangle closureglaucoma (PACG)isthemajorglaucomaform 4 　AmongChineseadult,glaucomaisamaincauseofblindnessandispredom…     

A study on central corneal thickness and optic disc size in patients with primary open angle glaucoma

The aim of the study was to evaluate a possible relationship between central corneal thickness (CCT) and optic disc area in patients with primary open angle glaucoma (POAG). Patients with POAG and age matched control group underwent routine ocular examination along with optic nerve head evaluation by Stratus optical coherence tomography (OCT) and CCT measurement by ultrasound pachymetry. Pearson's coefficient was calculated in both groups to find out correlation between these two parameters. In this series 90 eyes of 45 control subjects and 94 eyes of 47 POAG patients were studied. In the control group 40% were female, 60% male and among the POAG patients 34% female, 66% male. Mean CCT in control subjects was 566.98 micron (SD = 19.36, n = 90) and in POAG patients was 526.61 micron (SD = 29.93, n = 94). There was a significant difference in two groups (p = 0.0002). Disc area in control group had mean of 2.32mm(2) (SD = 0.305, n = 90) and in POAG group 2.982mm(2) (SD = 0.566, n = 94). Statistically significant difference was found among the two groups (p = 0.0). CCT was inversely correlated with optic disc size. In control subjects, r = -0.141, but it was not statistically significant (p = 0.092). In POAG group, r = -0.256 and the correlation was statistically significant (p = 0.0063). CCT was significantly less in POAG patients compared to control subjects. Mean disc area was significantly higher among the POAG group compared to control subjects. CCT was inversely correlated with disc area in both groups, but was statistically significant in POAG patients.     

Analysis of MYOC gene mutation in a Chinese glaucoma family with primary open-angle glaucoma and primary congenital glaucoma

Background Glaucoma is one of the leading causes of blindness in the world. Primary open-angle glaucoma （POAG） and primary congenital glaucoma （PCG） are subtypes of glaucoma. Myocillin is the first gene identified to be involved in POAG. Recently, myocillin mutation has been found in PCG. In this context, we reported a special glaucoma pedigree, which was composed of both PCG and POAG patients, and analyzed the mutation of myocillin in this pedigree. Methods The family was composed of the parents, a son and a daughter. All members of the family underwent the complete ophthalmologic examinations. All coding exons 1-3 and flanking introns of myocilin gene were screened for sequence alterations by polymerase chain reaction and direct DNA sequencing. Results The son was the proband, who was diagnosed as PCG in both eyes. The father was diagnosed as POAG in the right eye, the left eye was still normal. Both the sister and the mother of the proband had normal intraocular pressure without glaucomatous optic disc changes. The mutations in intron 2 of myocilin gene were detected in the family. While the proband and the father were homozygous, the mother and the sister were heterozygous for the mutation. Conclusions Homozygous mutation in intron 2 of myocilin gene is involved in both POAG and PCG. It is suggested that the pathogenesis might be overlapping in POAG and PCG.     

蓝/黄自动化视野检测原发性开角型青光眼

目的 :探讨蓝 /黄 (B/ Y)自动化视野在早期开角型青光眼 (POAG)患者视敏度检测中的敏感性和应用价值。方法 :以 Humphry- 75 0视野机对 31例 (4 5眼 )早期 POAG患者作常规白色 (W/ W)视野和蓝 /黄视野 (B/ Y)检测。结果 :B/ Y视野出现的光敏度异常下降点数较 W/ W视野多 (B/ Y视野为 11.5 778± 5 .4 334,W/ W视野为10 .86 6 7± 5 .332 6 ,t=2 .973,P<0 .0 1)。B/ Y视野的 GHT指标的异常程度比 W/ W视野明显 (χ2 =7.111,P<0 .0 1) ,其中两种视野 GHT均为临界或异常者 30例 ,均正常者 6例 ,B/ Y视野 GHT临界或异常而 W/ W视野正常者 9例 ,W/ W视野 GHT临界或异常的病例 B/ Y视野 GHT均有异常。W/ W和 B/ Y视野的 MD指标两组间差异无显著性 (χ2 =3.2 73,P>0 .0 5 )。结论 :B/ Y视野检查在检测早期 POAG中较 W/ W视野灵敏度高。     

7原发性开角型青光眼合并2型糖尿病患者血管内皮功能的改变

目的 探讨原发性开角型青光眼(POAG)合并2型糖尿病(T2DM)患者血浆内皮素-1(ET-1)、一氧化氮(NO)的变化.方法 测定POAG合并T2DM患者47例(A组),单纯POAG患者53例(B组),正常对照组40例(C组)血浆中的ET-1、NO水平,并检测POAG患者的平均光敏感度,将其与相应的NO、ET-1进行相关性分析.结果 A组、B组与C组比较,NO水平明显降低,ET-1水平明显升高;A组与B组比较,NO水平明显降低,ET-1水平明显升高,差异均有统计学意义(P＜0.05).POAG的平均光敏感度与ET-1呈负相关(r=-0.524,P＜0.05),与NO呈正相关(r=0.532,P＜0.05),ET-1与NO呈负相关(r=-0.468,P＜0.05).结论 POAG并发T2DM患者血浆ET-1、NO的变化可能参与了本病的发病过程,可作为判断病情程度及疗效评价的指标.     

小梁切除术联合超声乳化术在原发性闭角型青光眼与原发性开角型青光眼合并白内障中的疗效比较

目的比较小梁切除术联合超声乳化术治疗原发性闭角型青光眼（primary angle closure glaucoma,PACG）与原发性开角型青光眼（primary open angleg laucoma,POAG）合并白内障的眼压控制情况及并发症。方法回顾性收集在我院近年行小梁切除术联合超声乳化术的PACG与POAG的患者资料,对患者手术前后眼压、最佳矫正视力、手术并发症等指标进行观察并进行比较。完全成功率标准为手术后最终随访时不用任何降眼压药物,眼压控制在≤21mmHg。结果本研究共有17例（17只眼）PACG与14例（14只眼）POAG。PACG组与POAG组间的年龄、术前眼压、随访时间均无统计学差异。PACG组与POAG组在分别经过11.4个月与13.2个月的手术后随访后,2组的眼压均下降,PACG的最后随访眼压（10.1±4.5）mmHg低于POAG组（15.8±8.3）mmHg（P=0.025）。最后随访时,PACG组的完全成功率为100%高于POAG组（78.6%）（P〈0.05）。58.8%的PACG患者与57.1%的POAG患者术后视力得到提高。2组的并发症均较轻。结论小梁切除术联合超声乳化术能够安全、有效控制PACG与POAG合并白内障的眼压,PACG的眼压控制优于POAG。     

Presentation of Primary Open Angle Glaucoma (POAG) at Lions Sight First Eye Hospital in Blantyre,Malawi

Objective

Primary open angle glaucoma (POAG) is the most common type of glaucoma in Africa. We carried out a study to determine the clinical presentation pattern of patients with primary open angle glaucoma (POAG) at a tertiary hospital in Malawi.

Design

A cross-sectional study

Setting

Lions Sight First Eye Hospital—a major referral and teaching state eye hospital in Blantyre, Malawi

Subjects

Study participants were newly diagnosed POAG patients at specialist eye clinic during study period.

Results

A total of 60 POAG patients were recruited into the study. The mean age was 58.7 years (SD= 16.6, range 18 - 86). There were more male (44, 73.3%) than female (16, 27.7%) patients. The majority of patients (73%) presented one year after onset of visual symptoms. Twenty-six patients (43%) had unilateral blindness (visual acuity < 3/60; WHO classification), while nine patients (15%) presented with bilateral blindness. A vertical cup-to-disc ratio (CDR) of 0.8 or worse was seen in 92 eyes (79%). The mean intraocular pressure (IOP) reading was 35.5 mmHg (SD 13.30). Of the thirty-three eyes that successfully underwent visual field analysis, very advanced defects were recorded in 12 eyes (36%).

Conclusion

This study demonstrates delayed presentation and male predominance among POAG patients at a tertiary eye hospital in Malawi. Glaucoma intervention programmes should aim at identifying patients with treatable glaucoma with particular attention to women.     

原发性开角型青光眼患者40岁以上一级亲属青光眼患病情况研究

背景　原发性开角型青光眼（POAG）是青光眼中最为常见的类型,流行病学资料显示,POAG的发病过程中遗传因素起了重要作用,POAG患者的发病具有明显的家族遗传聚集性倾向。目的　探讨湖北省宜昌市POAG患者40岁以上一级亲属原发性青光眼的患病情况,探讨家族史在POAG发病中的作用,为青光眼的早期防治提供参考。方法　选取2015—2017年在三峡大学附属仁和医院眼科确诊的100例POAG患者作为病例先证组,纳入其40岁以上一级亲属（包括父母、兄弟姐妹和子女）共289例作为病例组;以同期收治的100例白内障手术（排除POAG）患者作为对照先证组,纳入其40岁以上一级亲属共295例作为对照组。分别对病例组和对照组进行青光眼筛查和问卷调查,采用Logistic回归分析探讨POAG发生的影响因素。结果　295例对照组中,检出POAG患者5例（1.7%）;289例病例组中,检出POAG患者34例（11.8%）。病例组POAG患病率明显高于对照组（P<0.05）。病例组不论男性还是女性其POAG的患病率均高于对照组（P<0.05）;在50~59、60~69、≥70岁3个亚组中,病例组POAG的患病率高于对照组（P<0.05）。Logistic回归分析结果显示,40岁以上一级亲属是否患POAG以及患POAG的一级亲属类别,均是其患POAG的影响因素（P<0.05）。结论　POAG患者40岁以上一级亲属的POAG发生率高于非POAG患者,对POAG患者的一级亲属进行青光眼筛查是一项经济、高效的筛查方法。     

失眠、抑郁及焦虑心理状况与原发性开角型青光眼的相关性

 目的     评价失眠、抑郁及焦虑心理状况与原发性开角型青光眼(primary open angle glaucoma, POAG)的相关性。方法  2014年1月至2015年1月搜集120例POAG患者及120例正常对照。两组对象进行匹兹堡睡眠质量指数量表(Pittsburgh sleep quality index, PSQI)、抑郁自评量表(self-rating depression scale,SDS)及焦虑自评量表(self-rating anxiety scale, SAS)测评,对两组得分进行比较。同时,对POAG组中3种量表得分进行相关性分析及性别分析。结果  POAG 组的失眠、抑郁与焦虑得分 ( 7.43±0.35,45.42±9.87,49.61±12.24)明显高于正常对照组(4.16±0.28, 35.49±9.18,40.31±13.08)(P=0.000)。把PSQI总分>7分、SAS得分≥45、SDS 得分≥50 作为界值,POAG组失眠、抑郁和焦虑症状阳性率分别为54.2%、53.3%和50.0%,明显高于对照组(17.5%,25.8%,21.7%),差异组有统计学意义(P<0.05)。POAG患者失眠与焦虑评分呈正相关(r= 0.243,P<0.01),抑郁和焦虑评分呈正相关(r =0.516,P<0.01),而抑郁与失眠之间无相关性(r =-0.002,P=0.979)。POAG患者中女性较男性更容易失眠,差异有统计学意义(χ2=7.38,P<0.05)。结论  POAG患者的失眠、抑郁与焦虑情绪可能与青光眼的发生发展具有一定的相关性。