染色体多态性与不良妊娠的关系及其核型分析

目的:探讨染色体多态性与不良妊娠的关系。方法:对1 086例有不良妊娠史的患者按常规技术方法制备外周血染色体,G显带,并对染色体核型进行分析。结果:有198例染色体核型异常,异常检出率为18.23%。其中,多态性变异59例,占异常核型的19.8%,包括次缢痕增长27例,9号染色体倒位9例,D/G组随体变异7例,Y染色体变异16例。结论:染色体多态性与不良妊娠存在明显关系,不能忽视其临床效应。     

不孕不育及自然流产患者染色体多态性分析

目的:分析遗传咨询门诊中不孕不育及自然流产患者染色体多态性的情况。方法:对817例不孕不育及有自然流产史患者行外周血淋巴细胞培养,常规G显带,必要时行C显带或N显带后染色体核型分析。结果:817例就诊者中,检出染色体多态85例,阳性率为10.40%,其中不孕不育患者381例,检出染色体多态38例,多态检出率10.00%;自然流产史436例,检出多态47例,多态检出率10.78%。涉及的染色体包括D/G组随体增加、1号及16号次缢痕、9号倒位、Y染色体长度异染质区变化。结论:染色体多态性与不孕不育和自然流产有一定的相关性。     

染色体多态性与生殖异常关系探讨

目的:研究染色体多态性与生殖异常的关系。 方 法：对2009年1月以来在我院妇产科就诊的1684例遗传咨询者行外周血染色体核型分析。结果：在 1684例女性遗传咨询者中检出染色体多态性核型31例, 占1.84%。根据多态性变异可主要归为下列4 种类型: (1) D/G组随体增加共4例,占多态性的12.90%; (2) 次缢痕增加(包括1、9、16号染色体)共4例,占多态性的12.90%; (3) 9号染色体臂间倒位共7例,占多态性的22.58%.(4)Y染色体多态性共16例,占多态性的51.61%。夫妻一方为染色体多态性者,其妻子自然流产发生率、复发性流产发生率明显高于正常对照人群,其不孕不育发生率也明显高于正常对照人群。染色体多态性男性,其不育症发生率、弱精少精和无精症发生率明显高于正常对照人群,精子密度和精子活率明显低于正常对照人群。在218例不孕不育遗传咨询者中检出染色体多态性核型13例, 占5.96%,在267例复发性流产女性遗传咨询者中检出染色体多态性核型14例, 占5.24%,在238例男性少精弱精无精症遗传咨询者中检出染色体多态性核型17例, 占7.14%。结论： 染色体多态性可以导致男女生殖异常,对不良妊娠史者应进行外周血染色体检查。     

体外受精助孕患者染色体核型特点分析

目的分析体外受精助孕患者染色体多态及异常检出率及主要异常核型者的临床特征。方法回顾性分析657对体外受精-胚胎移植/卵泡浆内单精子显微注射-胚胎移植(In vitro fertilization-embryo trans-fer/Intracytoplasmic sperm injection-embryo transfer,IVF-ET/ICSI-ET)治疗对象的核型,分析其多态及异常核型检出率,探讨主要异常核型与生殖异常的关系及Y染色体异常与精液质量的关系。结果 IVF/ICSI助孕患者中染色体核型多态及异常者的总检出率为8.07%。其中以Y染色体异常最常见,占8.52%,其次为1、9、16号染色体变异,占1.67%。不同多态及异常核型患者的临床特征不同。Y染色体多态及异常可影响精液质量。结论 IVF/ICSI助孕者中染色体核型多态及异常者的总检出率高于我国普通人群。染色体异常是不孕不育的重要因素之一,临床应予以重视。     

611例双胎孕妇羊水染色体核型结果分析

目的：分析双胎孕妇羊水细胞染色体核型结果。方法：2010年1月—2019年8月于广西医科大学第一附属医院行羊膜腔穿刺的309例双胎妊娠孕妇,抽取双胎羊水进行产前细胞遗传学诊断,分析双胎羊水染色体核型结果。结果：618例双胎羊水标本成功培养611例,培养成功率为98.87%。共检出染色体异常核型39例,检出率为6.38%,其中数目异常占17.95%（7/39）、结构异常43.59%（17/39）、嵌合体30.77%（12/39）和标记染色体7.69%（3/39）。染色体多态性18例,检出率为2.95%,涉及1、15、16、22、Y号染色体。结论：双胎孕妇通过羊水细胞培养进行染色体检查是双胎产前诊断的可靠方法,能有效减少双胎染色体异常患儿的出生。     

1432例男性不育患者的细胞遗传学分析

目的通过对1432例男性不育患者进行细胞遗传学分析,初步探讨外周血染色体异常与男性不育的关系及分析研究染色体异常在男性不育中的诊断意义。方法对1432例男性不育患者进行外周血染色体G显带检查,分析其外周血染色体核型。结果共检出染色体异常患者217例,占总数的15.15%（217/1432）,包括性染色体异常70例,占染色体异常者总数的32.26%（70/217）,检出率4.89%（70/1432）,其中性染色体数目异常16例,Y染色体结构异常52例,性反转2例;常染色体结构异常147例,占染色体异常者总数的67.74%（147/217）,检出率10.27%（147/1432）,其中平衡易位11例,倒位21例（9号倒位20例）,插入3例（未知来源的2例）,染色体多态性变异112例。结论染色体异常是导致男性不育的重要原因,对男性不育患者常规进行细胞遗传学检查很有必要。     

不良孕产史夫妇外周血细胞遗传学和临床特征分析

目的 探讨湛江地区遗传咨询者外周血淋巴细胞染色体核型异常、多态发生率及类型,帮助临床诊疗、指导优生优育和提高湛江地区出生人口素质。方法 选取该院行遗传咨询的223对夫妇,其中将不良孕产的104对夫妇设为不良孕产组,正常孕产的119对夫妇设为正常孕产,对两组外周血淋巴细胞进行培养、制片及G显带染色体核型的分析。结果 不良孕产组染色体核型异常检出率明显高于正常孕产组(11.5%vs 1.3%,P<0.01);不良孕产组的染色体核型中主要表现为染色体呈多态性占33.3%,臂间倒位占33.3%,平衡易位占29.2%,常染色体数目异常占4.2%。结论 夫妻双方染色体核型异常和染色体多态性是生育异常的重要因素之一,需对生育异常的夫妇进行染色体检查,以提高人口质量。     

染色体多态性与复发性流产关系的探讨

目的探讨染色体多态性与复发性流产关系。方法对538对(1 076例)复发性流产及271对(542例)无生殖异常夫妇行染色体核型分析。结果复发性流产组(RSA组)染色体多态性126例,占全部受检者的11.71%,明显高于正常组染色体多态性发生率2.58%,(P<0.01)。染色体多态性中1、9、16号染色体次缢痕增长检出49例,D/G组染色体短臂和随体区延长31例,Y染色体多态性25例,9号染色体臂间倒位21例,RSA组各类染色体多态性检出率均高于正常组的发生率(P<0.05)。随着流产次数增加,染色体多态性检出率增加。结论染色体多态性与复发性流产有相关性。     

2880例染色体检查结果分析

目的为探讨智力低下、闭经、不良生育史和性征异常的病因.方法采用细胞遗传学的方法对2 880例遗传咨询者进行了染色体检查.结果检出异常核型408例,检出率14.2%.其中染色体数目异常250例,占异常的61.3%,染色体结构异常158例,占异常的38.7%.此外,检出染色体多态变异53例,其中大Y 49例,小Y 14例.并从细胞遗传学的角度,对患者发病的原因进行了探讨.结论染色体异常是智力低下、闭经、不良生育史和性征异常的重要病因之一.染色体核型分析可为这类疾病的诊断和治疗提供有效的和重要的依据.     

9号染色体多态性的细胞遗传学分析

目的分析9号染色体多态性的遗传效应,以及与不良产史等临床表现之间的关系。方法采用1640培养基,常规染色体培养、制片、核型分析。结果3250例病人中检出42例多态9号染色体,占1.29%,其中9号染色体倒位[inv(9)(p11q13)]者30例,占0.92%,9号染色体长臂次缢痕增加(9qh+)8例,占0.25%,9号染色体长臂次缢痕减少(9qh-)4例,占0.12%。inv(9)与不良生产史的发生率最高,占61.9%(26/42),其次为智能低下,占16.67%。结论inv(9)与不良生产史有关。     

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.     

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.     

Scientific principles and rigorous processes should be followed in developing clinical guidelines for therapeutic interventions of integrative medicine

A clinical guideline for the therapeutic interventions of integrative medicine may be defined as a written document which states a series of recommendations on therapeutic interventions of integrative medicine for a special disease or condition. The guideline may provide assistance to medical professionals in making clinical decisions aimed at improving the clinical outcome of patients and reducing the costs of medical care（~＇4~. Recommendations issued by a guideline should be based on the best available evidence in both Western and Chinese medicine. For fulfilling this purpose, the development of clinical guidelines for therapeutic interventions in the field of integrative medicine should follow scientific principles and undergo a rigorous processes.