脊髓性肌萎缩运动神经元存活基因和神经元凋亡抑制蛋白基因缺失的研究

目的 :研究国人脊髓性肌萎缩 (SMA )基因缺失特点。方法 :应用 PCR扩增及限制性内切酶技术对 15例儿童型 SMA ( 型 7例 , 型 4例 , 型 4例 )和 2例成人型 SMA进行运动神经元存活基因 (SMN)第 7外显子和神经元凋亡抑制蛋白基因 (NAIP)第 5外显子缺失分析 ,并对 1例有阳性家族史的家系进行了羊水胎儿产前诊断。结果 :14例儿童型 SMA携有 SMN基因第 7外显子缺失 ,占 93% ;2例 型 SMA携有 NAIP基因第 5外显子缺失 ,占 2 8.6 %。 2例成人型 SMA未显示 SMN或 NAIP基因缺失。结论 :儿童型 SMA的 SMN基因缺失频率高 ,可应用于临床 ,提高 SMA诊断率 ,适于产前诊断及鉴别诊断。 NAIP基因缺失可能与 SMA的严重程度有关。成人型SMA与儿童型 SMA为非等位基因突变。     

中国西南地区汉族脊肌萎缩症患者SMA相关基因分子特征

目的 以中国西南地区汉族人群为研究对象,构建脊肌萎缩症（SMA）相关基因拷贝数变化频率,为SMA的临床诊断和分型提供依据。方法 收集62例临床诊断为SMA的无亲缘关系患者,以及50例无亲缘关系的正常人作为健康对照组,采用多重连接酶依赖的探针扩增技术（MLPA）分析运动神经元基因（SMN）和神经原凋亡抑制蛋白基因（NAIP）的拷贝数。 结果 62例患者中,SMAⅠ～Ⅳ型分别占30.65%（19/62）、41.94%（26/62）、16.13%（10/62）、11.29%（7/62）。SMN1基因外显子7纯合缺失占98.38%（61/62）,SMN1基因外显子8纯合缺失占82.26%（51/62）。SMAⅠ型患者中NAIP基因外显子5有68.42%（13/19)纯合缺失,26.32%（5/19）杂合缺失;SMAⅡ～Ⅳ型患者中NAIP基因外显子5有13.95%（6/43）纯合缺失,62.79%（27/43）杂合缺失。SMAⅠ型患者中68.42%（13/19）有1～2拷贝的SMN2基因,SMAⅡ型中84.62%（22/26)有2拷贝以上的SMN2基因,90.00%（9/10)SMAⅢ型和85.71%（6/7)SMAⅣ型患者有2拷贝以上的SMN2基因,且发现有5拷贝和6拷贝SMN2基因。结论 SMN1基因缺失是SMA的主要致病原因,SMN2和NAIP基因拷贝数变化可以影响SMA病情严重程度。     

成年起病脊肌萎缩症SMN基因外显子7缺失的初探

目的 探讨成年起病的脊肌萎缩症（SMA）患者的运动神经元存活基因SMN的缺失情况。方法 用聚合酶链反应－酶切技术对15例SMA病人及33例正常对照的外显子7进行检测，明显有无缺失。结果 3例SMA的SMN的基因外显子7纯合缺失，其余12例和对照组均阴性。结论 SMN基因外显子7缺失可作为成年起病SMA的辅助诊断，以提示SMA遗传的异质性。     

儿童型脊髓性肌萎缩症的基因诊断

目的：建立儿童型脊髓性肌萎缩症（SMA）的特异性基因诊断。方法：应用聚合酶链反应－限制性片段长度多态性（PCR－RFLP）技术,对11例临床诊断为SMA的患儿及21例正常儿童的运动神经元存活（SMN）基因进行了检测。结果：11例SMA患儿的SMN基因外显子7均有缺失。21例正常对照儿童均无SMN基因外显子7缺失。结论：应用PCR－RFLP技术对儿童型SMA患儿进行基因诊断,具有高度敏感性和特异性,简便易行。     

儿童型脊髓性肌萎缩症的基因诊断(附10例报告)

目的:建立儿童型脊髓性肌萎缩症(SMA)的特异性基因诊断平台。方法:应用聚合酶链反应-限制性片断长度多态性(PCR-RFLP)技术,对10例临床诊断为SMA的患儿及15例正常个体的运动神经元存活(SMN)基因第7、第8号外显子进行检测。结果:10例SMA患儿的SMN基因第7、第8外显子全部缺失,而15例正常个体均无SMN基因第7、第8外显子的缺失。结论:应用PCR-RFLP技术对儿童型脊髓性肌萎缩症患儿进行基因诊断具有高度的敏感性和特异性,可作为SMA的诊断方法。     

成年起病脊肌萎缩症SMN基因外显子7缺失的初探

目的探讨成年起病的脊肌萎缩症(SMA)患者的运动神经元存活基因SMN的缺失情况。方法用聚合酶链反应-酶切技术对15例SMA病人及33例正常对照的外显子7进行检测,明确有无缺失。结果3例SMA的SMN基因外显子7纯合缺失,其余12例和对照组均阴性。结论SMN基因外显子7缺失可作为成年起病SMA的辅助诊断,以提示SMA遗传的异质性。     

应用聚合酶链式反应-酶切法进行脊髓性肌萎缩的基因诊断及产前诊断

目的：建立一种高效,快速的脊髓性肌萎缩（SMA）的基因诊断与产前诊断的方法。方法：基于运动神经元生存基因（SMN）基因的两个同源拷贝碱基上的差异,采用聚合酶链反应（PCR）－酶切的方法,选择特异的酶切位点对11例SMA患儿进行SMN基因检测。同时采用SMN基因内部及旁侧的C161,C171,C212,C272等4对（CA)n对4个家系进行连锁分析。结果：11例SMA患儿中10例患儿缺失SMNt7,8号外显子,1例患儿仅缺失7号外显子。4个SMA家系中有3个胎儿未发现与先证者完全相同的SMN基因片段,1个胎儿检测到与先证者完全相同的SMN基因片段。结论：该方法快速,简便,适合临床推广。     

SMN基因诊断小儿脊髓性肌萎缩症

目的了解儿童期发作的进行性脊髓性肌萎缩(SMA)患者的运动神经元存活基因(SMN)的缺失,探讨聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法用于SMA疾病的诊断价值。方法应用PCR-RFLP方法对3例SMA可疑患儿及其父母5例的SMN1基因外显子7和8进行了检测,并对其进行基因测序。结果3例SMA可疑患儿中3例均有SMN1基因缺失,为外显子7和8联合缺失。其父母均无SMN1基因缺失。基因测序支持诊断。结论用PCR-RFLP法对高度可疑儿童型SMA的病例进行诊断,具有较高敏感性和特异性,简便易行。     

南充地区脊髓性肌萎缩症携带者筛查及高风险胎儿产前诊断分析

目的:分析南充地区脊髓性肌萎缩症(SMA)携带者筛查及高风险胎儿产前诊断。方法:选取4 325例定期产检且因不良妊娠史就医的育龄期女性及183名配偶为研究对象。采用荧光定量聚合酶链式反应(QF-PCR)法检测运动神经元存活基因1(SMN1)7号外显子(E7)的拷贝数。E7拷贝数1为携带者，对夫妻双方均是SMA携带者应用多重连接探针扩增技术(MLPA)验证胎儿SMN1基因拷贝数变异。结果:共检测到SMA携带者70例，携带率为1/64.4,其中E7和8号外显子(E8)双位点杂合缺失的64例(1/70.4),E7位点杂合缺失6例(1/751.3)。对夫妻双方均为杂合性缺失胎儿基因检测发现，胎儿SMN1基因为0个拷贝数，运动元存活基因2(SMN2)为3个拷贝数，最终通过遗传咨询预防了SMA患儿的出生。结论:南充地区SMA的携带率为1/64.4,QF-PCR检测结合MLPA家系验证，并对高风险胎儿进行产前诊断，对减少SMA患儿的出生具有重要诊断价值，对本地区出生缺陷防控有重要的意义。     

茂名地区育龄妇女脊髓性肌萎缩症SMN1突变携带者筛查与分析

目的 对茂名地区育龄妇女进行脊髓性肌萎缩症(SMA)运动神经元存活基因1(SMN1)突变携带者筛查,掌握SMA流行病学数据,为SMA家系进行遗传咨询、基因筛查和产前诊断提供依据。方法 收集2020年5月-2021年8月在茂名市妇幼保健院进行孕检的1 898名妇女临床资料和肘静脉外周血样本。采用MGB探针实时多重荧光定量PCR法,分别对SMN1第7外显子和第8外显子的拷贝数进行相对定量检测,并分析目的基因的缺失情况及携带频率,为男女双方均为阳性携带者的夫妇进行产前诊断。结果 在1 898名育龄妇女中,共检测出脊髓性肌萎缩症SMN1突变携带者49例,携带率为2.58%;其中SMN1-7杂合缺失/SMN1-8杂合缺失最多33例(1.74%),其次为SMN1-7未见缺失/SMN1-8杂合缺失12例(0.63%)和SMN1-7杂合缺失/SMN1-8未见缺失4例(0.21%)。2对双方均为阳性携带者夫妻的3例胎儿羊水标本中2例为SMN1-7杂合缺失/SMN1-8杂合缺失和SMN1-7杂合缺失/SMN1-8未见缺失,建议继续妊娠;1例为SMN1-7纯合缺失/SMN1-8纯合缺失,建议对胎儿进行终止妊...     

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.