染色体和遗传

79例XY性腺发育异常患者性腺肿瘤发生情况分析，光谱核型分析技术在标记染色体诊断中的应用，10号与21号染色体易位伴多囊卵巢综合征一例报告及文献复习，原核形态、卵裂胚发育与染色体异常关系的研究，306例孕中期羊水细胞染色体核型分析，习惯性流产1例细胞遗传学及家系特征分析     

4号染色体臂间倒位家系分析

人类染色体倒位涉及到每号染色体,现已有记载的约50余种。大量报道了倒位是引起流产、死产、胎儿致畸的一个重要因素。但常染色体仅报导9号倒位引起原发性闭经。我室在遗传咨询中发现一例4号染色体臂间倒位伴发原发性闭经,且家系中调查发现几人为携带者。现报告如下:     

先天性外中耳畸形染色体核型分析及家系研究

目的:通过对存在先天性外中耳畸形合并耳前瘘管家族的染色体研究,探讨染色体与先天性外中耳畸形合并耳前瘘管家族的遗传因素关系。方法:收集3个先天性外中耳畸形合并耳前瘘管的家系成员的临床资料,绘制家系图谱,抽取家系成员的外周静脉血样进行染色体核型分析。结果:收集3个家族三代家族成员共21例,其中发现染色体异常9例,其中患者3例,携带者6例,包括3个家族中父亲及祖父,表现均为染色体结构异常。结论:这3个家族先天性外中耳畸形合并耳前瘘管的遗传模式符合常染色体隐性遗传,家系调查有助于先天性外中耳畸形的进一步研究。     

STR-PCR分析诊断常见染色体三体及其亲源性、染色体不分离时期

[目的]通过采用短串联重复序列结合聚合酶链反应(STR-PCR)技术对胎儿进行产前诊断以及对已知染色体21三体的病例进行检测，探讨STR-PCR技术诊断常见三体综合征。同时判断额外染色体的双亲来源以及染色体不分离发生时期。[方法]收集了51个家系的174例样本，其中产前诊断组35个家系，包括18例单胎妊娠和17例多胎妊娠家系：已知为染色体21三体患者16个家系。采用STR-PCR技术，扩增21号染色体4个位点；18、13号染色体各3个位点，诊断这些染色体三体综合征，与染色体核型对照；并判断额外染色体双亲来源和染色体不分离发生时期。[结果]检出18例完全型染色体三体综合征，包括21三体16例；18三体和13三体各1例，其中4例为产前诊断的胎儿。1例罗氏易位型和1例嵌合型21三体未能检出。14例21三体及1例18三体、1例13三体可确定额外染色体的亲代来源和不分离时期。[结论]STR-PCR技术在诊断多种完全型染色体三体的同时，可判断额外染色体的亲源性及分析染色体不分离时期。但对嵌合型和易位型染色体异常的诊断有待改进。     

STR-PCR分析诊断常见染色体三体及其亲源性、染色体不分离时期

[目的]通过采用短串联重复序列结合聚合酶链反应(STR-PCR)技术对胎儿进行产前诊断以及对已知染色体21三体的病例进行检测,探讨STR-PCR技术诊断常见三体综合征,同时判断额外染色体的双亲来源以及染色体不分离发生时期.[方法]收集了51个家系的174例样本,其中产前诊断组35个家系,包括18例单胎妊娠和17例多胎妊娠家系;已知为染色体21三体患者16个家系.采用STR-PCR技术,扩增21号染色体4个位点;18、13号染色体各3个位点,诊断这些染色体三体综合征,与染色体核型对照;并判断额外染色体双亲来源和染色体不分离发生时期.[结果]检出18例完全型染色体三体综合征,包括21三体16例;18三体和13三体各1例,其中4例为产前诊断的胎儿.1例罗氏易位型和1例嵌合型21三体未能检出.14例21三体及1例18三体、1例13三体可确定额外染色体的亲代来源和不分离时期.[结论]STR-PCR技术在诊断多种完全型染色体三体的同时,可判断额外染色体的亲源性及分析染色体不分离时期.但对嵌合型和易位型染色体异常的诊断有待改进.     

伴22号染色体异常的腓肌萎缩症Ⅱ型一家系报告

本文报道染色体显性遗传的腓肌萎缩型Ⅱ型一个家系。家系中共２７人，其中６例在成年后出现四肢远端缓渐肌萎缩伴无力，下肢明显。２例肌电图呈神经性损害，周转神经传速度正常。１例胫骨前岂活检示神经原性萎缩，电镜见轴索变性。２例２２号染色体短臂增生。 ，     

遗传性成骨不全家系分析

目的探讨遗传性成骨不全（osteogenesis imperfecta,oI）一家系特征。方法2011年6月对河南安阳0I家系进行问卷调查、专科检查,搜集临床资料,绘制家系图谱,分析临床特点和遗传方式。结果该家系4代40人,患者10例,现存活患者7例,其中男5例,女2例。存活7例均存在骨折病史、骨骼畸形、蓝色巩膜、牙齿发育异常,3例听力受损,3例出现骨折愈合不良。结论该家系临床诊断符合SillenceI型成骨不全,遗传方式为常染色体显性遗传。     

染色体平衡易位遗传效应的相关研究

目的研究染色体平衡易位的遗传效应.方法应用外周血淋巴细胞培养、染色体显带技术进行核型分析,通过遗传咨询进行跟踪随访.结果在4 498例外周血检查对象中,发现52个染色体平衡易位家系、68例染色体平衡易位个体,检出率1.51%,其中相互易位40个家系54例,罗伯逊易位12个家系14例,检出率分别为1.20%和0.31%.平衡易位涉及两条常染色体间与X染色体和多条染色体间相互易位.有异常表型者13例,占19.12%,表现为生长发育落后、智力低下及各种先天异常.结论部分染色体平衡易位个体有异常表型伴智力低下,对智力低下患者可作染色体核型分析.复杂型易位表型异常风险随断裂点数目增加而增高,自发性流产率及生育畸形儿的风险也随之增高.     

人类第9号染色体一种新的变异二例

人类染色体的多态性与主体异染色质有关。第9号染色体异染色质区的大小和位置的改变在人群中出现的频率很高,特别引人瞩目。迄今为止,已有大量的文献报道了9号染色体的这种多态现象。最近,我们在三例无血缘关系的家庭中发现了9号染色体一种新的变异:在增长的次缢痕异染色质区内,出现一条明显的深带。现将已做家系调查的两例报道于下。例1.王××(遗883号),男,18岁,因肌肉萎缩于1981年11月来遗传门诊。外周血淋巴细胞染色体 G 显带检查发现一条9号染色体 qh 增长,其中部有一条明显的深染带,其它染色体未发现异常。追查其家系,发     

染色体平衡易位遗传效应的相关研究

目的研究染色体平衡易位的遗传效应。方法应用外周血淋巴细胞培养、染色体显带技术进行核型分析,通过遗传咨询进行跟踪随访。结果在4498例外周血检查对象中,发现52个染色体平衡易位家系、68例染色体平衡易位个体,检出率1．51％,其中相互易位40个家系54例,罗伯逊易位12个家系14例,检出率分别为1．20％和0．31％。平衡易位涉及两条常染色体间与X染色体和多条染色体间相互易位。有异常表型者13例,占19．12％,表现为生长发育落后、智力低下及各种先天异常。结论部分染色体平衡易位个体有异常表型伴智力低下,对智力低下患者可作染色体核型分析。复杂型易位表型异常风险随断裂点数目增加而增高,自发性流产率及生育畸形儿的风险也随之增高。     

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.     

BLOOD PRESSURE CHANGE WITH AGE IN SALT-SENSITIVE TEENAGERS

Objective To observe blood pressure change with age in salt-sensitive teenagers whose salt sensitivity were determined by repeated testing.Methods Salt sensitivity was determined through intravenous infusion of normal saline combined with volume-depletion by oral diuretic furosemide in 55 teenagers. After five years, salt sensitivity was re-examined and subject blood pressure was followed up. Blood pressure changes in salt-sensitive teenagers were compared to that of non-salt sensitive teenagers over five years.Results After 5 years, the repetition rate of salt sensitivity determined by intravenous saline loading is 92.7%. In teenagers with salt sensitivity on the baseline, both the systolic blood pressure increments and increment rates were much higher than non-salt sensitive teenagers (12.7±12.1 mmHg vs. 2.8±5.2 mmHg, P＜ 0.01; 12.2%± 12.0% vs. 2.5% ±4.4%, P＜ 0.001,respectively). There was a similar trend for diastolic blood pressure (8.4 ± 6.4 mmHg vs. 3.7 ± 6.4 mmHg, P = 0.052; 13.2% ±10.6 % vs. 6.8%± 10.1%, P = 0.053, respectively).Conclusions Salt sensitivity determined by intravenous saline loading showed good reproducibility. Blood pressure increments with age were much higher in salt-sensitive teenagers than non-salt sensitive teenagers, especially in terms of systolic blood pressure.     

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.     

Dynamic Changes in Serum Estradiol and Progesterone levels in Patients of Premenstrual Syndrome with Adverse Flow of Liver-qi

Objective:To probe into the influence of changes of ovarian hormones on the pathogenesis of the specific sub-type premenstrual syndrome(PMS)and reveal partial microcosmic mechanisms of adverse flow of liver-qi.Methods:Estradiol(E2)and progesterone(P)levels in serum were determined at different phases of menstrual cycle by radioimmunoassay.Results:In the group of PMS with adverse flow of liver-qi.the secretive peak value Of E2 and P at the follicular phase significantly decreased,and the secretive peak value at the luteal phase did not come into being.Conclusions:Low E2 and P secretive peak at the follicular phase and absence of secretive peak at the luteal phase is one of the microcosmic mechanisms of PMS with adverse flow of liver-qi.One of the pathophysiologic mechanisms of specific sub-type PMS is probably the continuous low level of E2and P.     

Real-time Three-dimensional Echocardiography in Assessment of Left Ventricular and Right Ventricular Volumes

Real-time three-dimensional echocardiography (RT3DE)is a new ultrasound technique that enables dynamic threedimensional visualization and quantification of the heart in real time. Investigation of feasibility and methodology of RT3DE in determining left ventricular (LV) and right ventricular (RV) volumes, RT3DE was performed in 35 normal adults using Philips SONOS 7500 system with a 2-4 MHz matrix array transducer. The 60°×60° "pyramid" volume database was obtained and analyzed on a TomTec echo workstation. Both LV and RV volumes were calculated with four 3DE methods (i.e. apical 2, 4, 8, and 16-plane) through manually tracing ventricular endocardial borders in end diastole and end systole. Stroke volumes were then calculated. LV volume was also measured by 2DE Simpson's rule using GE VIVID 7 ultrasound machine.     

SCREENING FOR A 21-CHROMOSOME ABNORMALITY IN PREIMPLANTED EMBRYOS OF ELDERLY WOMEN

Increasing maternal age is the only etiological factor unequivocally linked to Down's syndrome in humans. The occurrence rate of newborns with Down's syndrome is about 1/220 in women over 35 years old. However, the occurrence rate in embryos fertilized in vitro, of the elder woman is unclear. Using FISH we screened the number of chromosome 21 in preimplanted embryos of 5 elderly women (average age, 38.4 years) to study the feasibility and necessity of screening trisomy 21 in embryos in patients over 35 years old at the in vitro fertilization (IVF) center.