Fabry病1例并文献复习

目的了解遗传性疾病Fabry病的临床和病理特点。方法总结分析1例具有肾损害Fabry病患者的临床表现,并对其肾活检组织进行光镜、免疫荧光及超微结构观察,结合文献对Fabry病的临床病理、治疗和预后进行探讨。结果患者有皮疹、神经痛、听力下降、不完全性右束支传导阻滞等Fabry病肾外临床表现,同时有蛋白尿、镜下血尿及肾小球滤过率下降等肾脏受累表现。肾活检光镜下肾小球足细胞明显肿胀,空泡变性呈泡沫状,肾小管上皮细胞颗粒变性,小灶状萎缩。免疫荧光阴性。电镜下内皮细胞、足细胞、小管上皮细胞空泡变性,部分泡沫样改变。足突弥漫融合。泡沫状细胞胞浆内次级溶酶体增多,可见大量呈分层的环状的髓鞘样小体和斑马小体。结论 Fabry肾病患者可出现蛋白尿、血尿和肾功能损害,嗜锇性髓鞘样包涵小体是其特征性结构,早期α-Gal A酶替代治疗有望改善Fabry病患者的预后。     

Fabry病肾活检病理观察

目的： 探讨女性Fabry病的肾脏病理特点, 为临床诊断提供依据.方法： 对1例30岁有持续蛋白尿的女性患者行肾活检,标本在光镜和电镜下进行观察.结果： 肾活检的超微结构显示肾小球上皮细胞的胞浆中含有大量的嗜锇板层小体,呈圆形,由同心的致密层组成,直径约0.5～3 μm,板层小体的板层间隔周期约4～5 nm.结论： 肾小球脏层细胞内出现嗜锇板层小体是Fabry病特征性形态学改变.     

线粒体脑肌病合并脂质沉积性肌病1例报告并文献复习

目的 探讨线粒体脑肌病和肉毒碱缺乏的关系.方法 报道1例合并脂质沉积性肌病的线粒体脑肌病患者的临床和病理特点,并复习相关文献.结果 患者主要表现为癫痫大发作和四肢无力,激素治疗效果好.肌肉病理改变特点是许多肌纤维内可见细小空泡,被脂滴填充和较多不典型破碎红纤维(RRF).电镜下见大量脂肪滴,呈串珠样和片状分布;并出现线粒体增多和结构异常,可见嗜锇小体的形成.结论 此患者可以诊断为线粒体脑肌病合并脂质沉积性肌病,其发病机制可能是线粒体呼吸链的氧化缺陷使脂酰辅酶A过度聚集,导致继发性肉毒碱的缺陷.     

肾小球肾炎

肾小球肾炎简称肾炎,是以双侧肾脏肾小球病,变为主的一种肾的变态反应疾病。具有少尿、血尿、蛋白尿、水肿、常伴高血压、肾功能损伤等临床表现。从发病机制上可分为抗肾小球基底膜性肾炎和免疫复合物性肾炎二型。根据临床表现可分为急性肾炎、急进性肾炎、慢性肾炎和隐匿性肾炎。     

纤维样肾小球病病理分析

目的：光镜及电镜下观察纤维样肾小球病的病理特征,为纤维样肾小球病的诊断及鉴别诊断提供依据。方法：2例纤维样肾小球病患者（其中1例并发免疫触须样肾小球病）经皮肾穿刺取活检组织,HE、PAS、PAM-Masson染色,IgG、IgM、IgA、C3、C4、C1q免疫组化染色,于光镜下观察;病理分析（光镜和电镜）及免疫组织化学染色;铀铅双重染色透射电镜观察。结果：光镜下PAM-Masson染色膜性肾病示系膜区团块状、肾小球基底膜细小嗜复红蛋白沉积,而膜增殖性肾小球肾炎示肾小球基底膜局灶增厚、“双轨化”伴嗜复红蛋白沉积。免疫组织化学染色膜性肾病和膜增殖性肾小球肾炎在肾小球系膜区有IgG、IgM、IgA、C3免疫复合物沉积,而在血管襻区膜性肾病见IgG、C3免疫复合物沉积,膜增殖性肾小球肾炎可见IgM、C3、C1q免疫复合物沉积,但其刚果红染色阴性。电镜下膜性肾病和膜增殖性肾小球肾炎在系膜区、基底膜上皮下和（或）内皮下有电子致密物沉积,见无分支的纤维样结构（直径15~25 nm）,而膜增殖性肾小球肾炎还可见微管状结构（直径30~50 nm）。结论：纤维样肾小球病具有典型的形态学特征,确诊需依赖电镜特征性纤维样结构。     

具有肾小球弥漫结节样改变的肾脏病理诊断

目的 探讨肾小球弥漫结节样改变的病理学诊断特征.方法 回顾性总结分析127例肾小球以弥漫结节样改变为主的肾活检患者的病理诊断.结果 肾小球弥漫结节样改变在糖尿病肾病、淀粉样变性肾损害、膜增生性肾炎、Ⅳ型狼疮性肾炎中最为常见,还可见于轻链沉积病、冷球蛋白血症肾损害等少见疾病中.结论 肾小球弥漫结节样改变可有多种不同的肾脏病理诊断,我们应结合临床和实验室数据进行相应的鉴别诊断.     

浅谈中医对慢性肾炎病人的护理

慢性肾炎又被称为是慢性肾小球肾炎,这种疾病在临床中是比较普遍的一种慢性肾脏疾病,主要是因为多种病因所导致的原发在肾小球的免疫性炎症性疾病,这个疾病的特点为病程很长,治疗比较困难,疾病会呈进行性发展。在我国的中医典籍中,慢性肾炎病名一直都无从查找,依据慢性肾炎患者的临床表现不同,可以归属在中医学的"血尿、水肿"等疾病的范围内。经过临床长期的实践,中医在不断地积累中有了丰富的治疗经验,因此,中医在对慢性肾炎实施对症治疗的过程中表现的优越性是很大的。慢性肾炎中医属肺、脾、肾三脏为病,病程迁延难愈,在该病的中医护理中提倡综合护理,从饮食、情志、起居、用药及健康教育等多方面进行,方能收到满意效果。     

313例6岁以下小儿肾脏疾病病理特点及其与临床表现的关系

目的:了解6岁以下小儿肾脏疾病病理特点及其与临床表现的关系.方法:对313例临床诊断为14种肾脏疾病的6岁以下小儿进行肾组织病理检查.采用快速经皮肾活检术,将穿刺取得的组织分成3部分,按常规方法所有病例分别进行光镜、电镜及免疫荧光检查,标本均作HE,PAS,PASM及Masson染色,均应用免疫荧光检测肾组织中IgG,IgM,IgA,C3,C4,C1q及Firibn,部分病例根据血化验乙肝抗原阳性者加做免疫荧光检测肾组织中的HBsAg,HBeAg和HBcAg.本组290例(92.65%)进行了电镜检查.结果:313例肾活检成功率为100%;临床主要表现为持续性血尿103例(32.92%),单纯性肾病82例(26.21%),急性肾炎综合征63例(20.14%),紫癜性肾炎26例(8.32%),乙肝相关性肾炎15例(4.79%),孤立性蛋白尿8例(2.56%)等;病理改变主要为系膜增生性肾A炎162例(51.75%),IgM肾病26例(8.31%),微小病变扣轻微病变25例(7.99%),IgA肾病23例(7.35%),毛细血管内增生性肾小球肾炎16(5.11%),局灶节段性肾小球硬化14例(4.47%),薄基底膜病14例(4.47%),膜性肾病14例(4.47%)等.通过电镜检查,使Alport综合征、先天性肾病、薄基底膜病得以明确诊断.通过肾活检组织免疫病理学检查,使IgA肾病、IgM肾病及C1q肾病得以确诊.结论:临床表现类似的疾病病理类型不同,同一病理类型的疾病,临床表现可以多样.肾活检病理诊断对6岁以下小儿肾脏疾病的诊断、治疗、估计预后均有重要价值.电镜在肾病理检查中起到不可忽视的作用.     

脂蛋白肾病1 例报告及文献复习

回顾性分析2011 年6 月在中南大学湘雅二医院诊断的1 例脂蛋白肾病的临床表现、实验室以及肾活检病理检查结果。本病例以肾病综合征为主要临床表现,实验室检查有血浆载脂蛋白(apo)E 和apoB 升高,肾活检光镜显示肾小球毛细血管呈血管瘤样扩张,管腔内充满淡染的板层状空泡样物质;免疫组织化学测定显示毛细血管腔内apoE 染色阳性;透射电镜显示毛细血管腔内充满大小不一的空泡样脂肪凝聚物,呈簇状或层状排列。脂蛋白肾病无特异性临床表现,诊断脂蛋白肾病除根据临床表现外, 还应结合肾脏病理检查,特征性的病理表现在诊断脂蛋白肾病中起重要作用。     

轻链沉淀病肾脏损害（附二例附告）

２例轻链沉淀病肾脏损害。肾活检病理示肾小球毛细血管基膜、肾小管基膜增厚，免疫酶标和免疫荧光示抗Ｋ轻链阳性。临床表现肾病综合征，不合并多发性骨髓瘤。轻链沉淀病首发和主要表现为肾脏损害。肾脏免疫病理是明确诊断的重要依据。     

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.