有遗传史的高血压病病人家系及染色体分析

64例高血压病患者中,有家族遗传史者22例(47.8％)。对22例进行四代(父母、祖父母、外祖父母、同胞及子女)高血压病遗传调查,22个家系,总人数共269人,患高血压病者占29.7％。三代均有高血压病患者占43.2％。22个家系中一级亲     

高度近视的遗传分析

目的　分析高度近视的遗传规律和特征。方法　对 19个先征者直系亲属作屈光检查 ,并作家系图谱进行遗传分析。结果　调查 19个家系共 12 6人 ,患高度近视者为 51人 ,占 4 0 .5% ,其中三代连续患病有 5个家系 ,二代连续患病有 9个家系 ,患者共 4 4人 ,占高度近视者的 86 .3% ;有 4个或 4个以上患者有 6个家系 ,有 2～ 3个患者有 10个家系 ,患者共 4 8人 ,占高度近视者的94 .1%。结论　高度近视为外显率不高的常染色体显性遗传 ,并且有家族聚集现象     

泪道阻塞与遗传的研究

目的:为了探索泪道阻塞与遗传的关系,以便能从遗传学方面提供预防和治疗措施。方法:1980年8月~2004年8月随机调查了来院门诊和住院患泪道阻塞的病人及家系中患泪道疾病的情况,分别绘制家系图。结果:调查了340个家系3292人,发病512人,占15.55%。一级亲2412人,占73.27%,发病162人,占一级亲的6.72%;二级亲340人,占10.33%,发病10人,占二级亲的2.94%;三级亲14人,占0.43%,无发病。结论:调查研究结果表明,泪道阻塞属遗传性疾病,其遗传方式:(1)常染色体显性;(2)常染色体隐性;(3)散发。     

应用光学相干光断层成像术检测临床大视杯分析报告

目的:利用OCT测量青少年人群中大视杯者各项参数,分析其变化特征。方法:对53例(106眼)常规检查眼底发现C/D>0.3的青少年行视盘OCT扫描,记录视杯深度、OCT图像下垂直C/D值、平均RNFL厚度,同时记录年龄、眼压、屈光度及眼底平面彩图C/D值,1年后行重复测量,对相关数据进行比较分析。结果:1OCT图像下垂直C/D与平均RNFL厚度两次检查结果均存在统计学差异(P<0.05)。2年龄、屈光度与平均RNFL厚度呈负相关。3眼压与OCT图像C/D值呈正相关。4眼底平面彩图C/D值与OCT图像下垂直C/D值测量值存在高度相关性,C/D值与平均RNFL厚度呈负相关,与视杯深度呈正相关。结论:临床中如遇到视杯偏大的患者,特别是青少年患者,应进一步检查随诊,不应轻易诊断生理性大视杯,从而使可疑的青光眼漏诊而错过最佳治疗时间。     

Leber遗传性视神经病遗传早发现象观察

目的:了解Leber遗传性视神经病(LHON)家系遗传早发现象及其与突变位点的关系.方法:调查5个LHON家系,采用DNA测序方法对其中3个家系的31位母系成员和40例健康人的原发突变位点11778和继发突变位点13730、13708、15257进行检测.结果:5个被调查的家系中4个存在遗传早发现象,31位母系成员均存在11778位点,无继发位点突变;40例正常人4个位点均无突变.所有受试者中新发现11719和15326位点的突变.结论:LHON存在遗传早发现象,但与各突变位点均无明显关系.     

健康体检中原发性开角型青光眼的机会筛查

目的了解太原市50岁以上健康体检人群中原发性开角型青光眼的患病率及眼底视乳头大视杯的情况。方法对山西医科大学第一医院体检中心接受体检的≥50岁受检者进行问卷调查及双眼免散瞳眼底照相,对垂直杯盘比≥0．6且上方或下方盘沿变窄的体检者进行青光眼筛查检查。结果目标人数为3255人,大视杯人数为428人,占目标人数的13．15％;大视杯在年龄比较中,3组总体比较有统计学意义,大视杯性别比较中,左眼组男女比较有统计学意义,其余无统计学意义。参加青光眼筛查检查者为59人,应答率为58．41％;通过筛查检查,12例被诊断为原发性开角型青光眼;通过问卷,有18人次知道自己患有青光眼。结论大视杯在人群中所占比率随着年龄增加而增加,大视杯在男女性别比较中总体无差别。国人的健康意识仍需进一步提高,机会筛查中运用影像学确定的杯盘比在青光眼的早期发现中具有临床意义。     

高度近视的遗传规律（附20例家系调查）

我们调查了 2 0例高度近视的家系 ,对高度近视的遗传规律进行了探讨。1　资料与方法1 1　临床资料　先证者 2 0例 ,系 1997年 8月至 1998年 8月来诊的高度近视患者。1 2　方法　对先证者 2 0例进行了验光及视力矫正。诊断标准是屈光度≥ - 6 0Ｄ的近视。眼底检查有近视眼底变性或不同程度的豹纹状眼底 ,视乳头周围或颞侧有弧形斑 ,黄斑部变性或后巩膜葡萄肿等。2　结　果2 1　 2 0个家系双亲 40人中高度近视 12人 ,2 4眼 ,占 30 % ,见表 1。表 1　高度近视 2 0例的亲代情况家庭数双亲人数双亲中高度近视人数双亲中无高度近视双亲中一方高…     

视盘血管炎眼底荧光血管造影的观察

目的　对视盘血管炎眼底荧光血管造影进行观察。方法　 2 0 0 0余例做眼底荧光血管造影。结果　视盘血管炎 6 0例 6 4眼 ,男性 30例占 5 0 % ,4 0岁以下者 31眼占 4 1.94 % ;单眼 5 6例占 93.33%。视盘水肿型 (Ⅰ型 ) 30眼占 4 6 .87% ,视力≥ 0 .5者 2 2眼占 34.37%。结论　视盘血管炎Ⅰ型临床表现主要为视乳头充血、水肿、视盘荧光渗漏。视网膜静脉阻塞型 (Ⅱ型 )主要表现为视乳头充血、水肿 ,视网膜出血 ,静脉纡曲扩张 ,静脉荧光充盈迟缓。     

Leber遗传性视神经病5家系遗传分析

目的了解LHON家系遗传特点与规律。方法调查5个LHON家系，分析该病的发生率、患者发病年龄、性别比例。结果5个家系的母系成员共82人。发病31人，发病率25．2％，男女比例20：11，平均发病年龄29．8岁，5个家系母系成员的发病率随着世代的增加而呈递减趋势，并发现4个家系呈遗传早现现象。结论LHON男性发病率高于女性，其遗传规律符合线粒体遗传的基本特点并存在遗传早现现象。     

报告两个不同遗传方式成骨不全症回族家系

报告二个成骨不全症回族家系。家系调查和系谱分析表明,一个家系连续三代都有发病的,26人中共有11人罹患本症,为常染色体显性遗传;另一个家系先证者的父母为姨表兄妹近亲联姻,家系中连续4代(包括先证者的7岁姐姐在内)无一人见有本症,考虑为常染色体隐性遗传。     

Value of D-Dimers in patients with acute aortic dissection

Objective: To evaluatel the value of D-dimers in patients with acute aortic dissection (AAD). Methods: This study consisted of 16 patients with AAD and 27 non-AAD patients. Serum D-dimets were measured by Sta-Liatest D-DI immunoturbidimetric assay. Results: D-dimer level was higher (P ＜ 0.001) in patients with AAD(7.91 ± 5.52 μg/ml) than that in non- AAD group(1.57±1.24 μg/ml). D-dimer was positive (＞0.4 μg/ml) in all patients with AAD and in 10 control group patients (37%). Among patients with acute AAD, D-dimers tended to be higher in Stanford A than in Stanford B (8.67 ± 4.31 μg/ml vs. 3.24±1.27 μg/ml, P ＜0.01). D-dimer values tended to be higher in more extended disease(3.84 ± 1.65 μg/ml, 8.57 ± 3.58 μg/ml and 11.87 ± 5.69 μg/ml in thoracic aorta, thoracic and abdominal aorta, thoracic and abdominal aorta and iliacal arteries, respectively, P ＜ 0.05 for both 8.57 ± 3.58 and 11.87 ± 5.69 vs. 3.84 ± 1.65 ). Including the control group into the analysis, we found a sensitivity of 100%, a negative predictive value of 100%, and a specificity of 66% and a positive predictive value of 64% for D-dimer in diagnosis of AAD in our patients with suspected AAD. Conclusion: D-dimer was elevated in patients with AAD. A negative D-dimer test result could be useful in excluding AAD.     

Research of combined liver-kidney transplantation model in rats

Objective： To set up a simple and reliable rat model of combined liver-kidney transplantation. Methods： SD rats served as both donors and recipients. 4℃ sodium lactate Ringer＇s was infused from portal veins to donated livers,and from abdominal aorta to donated kidneys, respectively. Anastomosis of the portal vein and the inferior vena cava （IVC） inferior to the right kidney between the graft and the recipient was performed by a double cuff method, then the superior hepatic vena cava with suture. A patch of donated renal artery was anastomosed to the recipient abdominal aorta. The urethra and bile duct were reconstructed with a simple inside bracket. Results： Among 65 cases of combined liver-kidney transplantation, the success rate in the late 40 cases was 77.5%. The function of the grafted liver and kidney remained normal. Conclusion： This rat model of combined liver-kidney transplantation can be established in common laboratory conditions with high success rate and meet the needs of renal transplantation experiment.     

安心颗粒对急诊经皮冠状动脉介入术后生活质量影响的研究

目的：评价使用安心颗粒对急诊经皮冠状动脉介入术（PPCI）术后生活质量的影响.方法：将160例接受PPCI的急性ST段抬高型心肌梗死患者随机分为安心颗粒组（术前顿服安心颗粒8.8g,术后安心颗粒4.4 g/次,每日2次）和对照组（仅接受基础药物治疗）.所有患者均服用阿司匹林、氯吡格雷和阿托伐他汀.分别在入院时、出院前1d、出院后180 d时,应用心肌梗死多维度量表（MIDAS）、中文版SF-36评价量表对患者生活质量评分.并观察术后30 d以内的出血并发症、血小板减少症发生情况.结果：入院时和出院前1d,两组患者的心肌梗死MIDAS、SF-36量表评分比较无差异（P＞0.05）;出院后180 d时,与对照组比较,安心颗粒组MIDAS、SF-36评分明显减低（P＜0.05）;组内与入院时比较,两组出院前1d、出院后180 d时,MIDAS、SF-36评分均降低（P＜0.05）.两组患者在随访期间均无大量出血、少量出血、重度和极重度血小板减少症发生,安心颗粒组有4例、对照组有7例发生不明显出血（P＞0.05）.两组发生轻度血小板减少症的患者数比较无差异（P＞0.05）.结论：PPCI使用安心颗粒,能改善急性ST段抬高型心肌梗死患者的生活质量,且不增加出血风险.     

The comparative studies of the influences of Urapidil and Nicardipine on sino-atrial node function, atrio-ventricular node function and hemodynamics

Objective:To investigate the influences of urapidil and nicardipine on rabbit sinus function,atrio-ventricular node function and hemodynamics.Methods:Thirty-two Angora's rabbits were selected and randomly divided into four groups.U1 group:urapidil 0.25 mg/kg;U2 group:urapidil 0.5 mg/kg;N1 group:nicardipine 10 μg/kg;N2 group:nicardipine 20 μg/kg.All these medicine were administrated within 30 seconds.Measurements were taken before and after the administration of urapidil or nicardipine for the following data:mean blood pressure(MAP),heart rate(HR),sino-atrial conduction time(SACT),maximal sinoatrial recovery time(SNRTmax)corrected sinus node recovery time(CSNRT),index of sinus node recovery time(SNRTI),Wenckebach A-V conduction frequency (WB),and P-R interval.Results:Significant MAP and HR changes were identified in all of the four groups before and after administration of both urapidil and nicardipine.No significant changes could be found in the rest of the parameters.Intergroup analysis showed that SACT and CSNRT of N1 and N2 groups were shorter than those of the U2 group(P＜0.01);the MAP decreased(P＜0.01)and the HR increased drastically(P＜0.01).Conclusions:Neither urapidil(0.25 mg/kg,0.5 mg/kg)nor nicardipine(10μg/kg,20μg/kg)has any significant influence on rabbit sinus function or rabbit atrio-ventricular node function.Nicardipine could be a better choice than urapidil for parafunctional sinus node patients.     

Expression of OPGmRNA and ODFmRNA in the patients of hip fracture due to osteoporosis

Objective：To investigate the gene expression of osteoprotegerin（OPG） and osteoclast differentiation factor（ODF） in the bone tissue of patients with hip fracture due to osteoporosis. Methods：OPGmRNA and ODFmRNA in the bone tissue in 50 cases of osteoporosis sufferers（over 50 years old） with hip fracture（Observer Group） and 30 cases of hip facture sufferers with no osteoporosis（Control group） were analyzed with the Semi-Quantitative RT-PCR method. Results：The mRNA expressed of ODF, OPG were both high in the patients with hip fracture. In the control group, the expression of OPG mRNA was observed, while the expression of ODF mRNA was very slight. Conclusion：Aged patients contained all signals including OPG, ODF that are essential for inducing osteoclastogenesis and promoting bone resorption.     

The clinicopathological and immuohistochemical analysis of solid-pseudopapillary tumor of the pancreas： report of 9 cases

Objective：To investigate the clinical features, pathological characteristics and immunophenotype of solid-pseudopapillary tumor of the pancreas（SPTP）. Methods：Nine surgically treated cases of SPTP were retrospectively reviewed. Hematoxylin and Eosin（HE） staining and immunohistochemical staining were used to analyze all cases, and the general clinical data was collected. Results：Six patients were asymptomatic except for a palpable mass. Two patients complained of vague-epigastric pain. One patient appeared jaundice. The tumor was encapsulated and solid tissues alternately with cystic tissues. Histologically, the histological structure of solid portion was pseudopapillary with a fibrovascular core. Tumor cells were uniform and medium-sized which were arranged in sheets ets or nests or pseudopapillary patterns. Immunohistochemical studies demonstrated that SPTP proved positive in vimentin（9/9 cases）, AAT（9/9 cases）, NSE（9/9 cases）, ACT（7/9 cases）, CK20（2/9 cases）, CgA（1/9 cases）, S-100（3/gcases）, PR（4/gcases）, Syn（3/9 cases） and CD56（5/9cases）, negative in CEA and ER. Conclusion：SPTP is a tumor predominantly occurring in young women frequently without special symptoms. This tumor has various characteristical histological patterns with different immunophenotype.     

Electro-Acupuncture Combined with the Trigger Point Needle-Embedding for Treatment of Primary Trigeminal Neuralgia in 31 Cases

In recent years, the author of this essay has applied electro-acupuncture combined with the trigger point needle-embedding for treatment of primary trigeminal neuralgia in 31 cases, yielding satis- factory results as reported in the following.     

Investigation of Matrix Metalloproteinase -1, 2 and tissue inhibitor of matrix metalloproteinases-1 in Endometriosis

Objective： To explore the role of matrix metalloproteinase-1,2 （MMP-1, MMP-2） and tissue inhibitor of matrix metalloproteinases-1 （TIMP-1） in endometriosis. Methods： The eutopic and ectopic endometria from 40 subjects suffering from endometriosis and regular.endometria from 40 subjects （excluding endometriosis） were collected and examined by in situ hybridization technology and western blot assay. Results： Both expressions of MMP-1 and -2 were stronger in ectopic endometrium and eutopic endometrium than in normal endometrium. On the contrary, the expression of TIMP-1 in ectopic endometrium and eutopic endometrium was lower. The differences were significant （P 〈 0.01 ）. Moreover, there was no relationship among the expressions of MMP-1, 2 and TIMP-1 in ectopic endometrium. Conclusion： The expressions of MMP-1, 2 and TIMP-1 lose balance and lack of periodic changes in ectopic endometrium , which explains the biological invasive behavior of endometriosis. It was suggested-that regulating the balance between the MMPs and TIMP-1 should be an ideal therapeutic target to endometriosis.     

Shi Da-zhuo (史大卓) —An outstanding cardiologist of integrative medicine

Prof. SHI Da-zhuo, Ph.D., male, was born on March 20, 1960. Prof. SHI entered the Ph.D. program in 1990 at the China Academy of Chinese Medical Sciences under the supervision of Prof. CHEN Ke-ji, majoring in the treatment of cardiovascular diseases. After receiving his Ph.D. degree in 1993, Prof. SHI started working at the Cardiovascular Center in Xiyuan Hospital affiliated to China Academy of Chinese Medical sciences.     

Persist in and Carry Forward the Integrative Medical Research——Speech at the 6th National General Congress of Chinese Association of Integrative Medicine by Academician CHEN Zhu,Minister of Ministry of Health

The 6th National General Congress of Chinese Association of Integrative Medicine （CALM） was convened at 19-20, April 2008 in Beijing. Academician CHEN Zhu, the minister of Ministry of Health indicated at the congress that the integration of Chinese and Western medicine is very well in keeping with the situation of our country and the general rule of development in medical science; and as a good integration of Chinese medicine and Western medicine, it is mutually beneficial and advantageous to both of them. Seeing the creativity shown in integrative medical investigation in theoretic and methodological sides, we should and must persist in and develop it.