Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus

Primary ciliary dyskinesia (PCD), also known as Kartagener's syndrome, is a human syndrome that results from ciliary dysfunction. This syndrome is characterized by recurrent respiratory infections, situs inversus and infertility. In some cases, hydrocephalus is also observed. We have characterized an insertional mutation in a mouse axonemal dynein heavy chain gene (Mdnah5) that reproduces most of the classical features of PCD, including recurrent respiratory infections, situs inversus and ciliary immotility. These mice also suffer from hydrocephalus and die perinatally. Electron microscopic studies demonstrate the loss of axonemal outer arms. These results show that mutations in Mdnah5 are a primary cause of PCD and provide direct evidence that mutations in an axonemal dynein can cause hydrocephalus. Mutations in the human DNAH5 have recently been identified in PCD patients. Comparison of the mouse model and the human data suggests that the degree of ciliary dysfunction is causally related to the severity of human PCD, particularly the presence of hydrocephalus.     

An explanation of renal hemodynamics in acute renal failure based on sequential CT in patients with Korean hemorrhagic fever

The pattern of renal enhancement and washout of contrast medium was observed on sequential follow-up CT in 12 patients with Korean hemorrhagic fever, in which acute renal failure is one of the most important clinical features. Renal contrast enhancement and contrast medium washout were delayed longer in patients with severe oliguric renal failure. The delayed washout peaked at 4-5 days and did not return to normal until 8-9 days in the patients with severe oliguria; in the patients without severe oliguria the times were 1-2 days and 3-4 days, respectively. A characteristic "cart-wheel" pattern was observed during the washout stage in patients without severe oliguria. This "cart-wheel" pattern of washout is thought to result from relief of vasoconstriction and repair of tubular function. Multifocal "wedge-shaped" nonenhanced areas of the kidney, seen on the 2 week follow-up postcontrast CT, are thought to be ischemic zones due to persistent vasoconstriction. On the 6 week follow-up postcontrast CT in one patient, scarring of the kidney was detected in the same area that did not enhance on the 2 week CT. This scarring is thought to be a result of permanent vasoconstriction.     

二维超声评价原发性肾病综合征预后的价值

目的　探讨二维超声对原发性肾病综合征预后的判断价值。方法　根据临床检查结果将 12 0例原发性肾病综合征患者分为 3组 ,并与二维超声检查结果进行相关性分析。结果　完全缓解组的肾脏超声检查结果与对照组比较无显著性差异 (P >0 .0 5 ) ,部分缓解组的肾脏超声检查结果与对照组比较有显著性差异 (P <0 .0 5 ) ,无效组的肾脏超声检查结果与对照组比较有非常显著性差异 (P <0 .0 1)。结论　二维超声检查原发性肾病综合征患者的肾脏无异常时预后良好 ,而肾脏缩小越明显 ,肾皮质回声越强 ,则预后越差。     

肾综合征出血热多尿期肾图的变化及意义

目的 :研究肾综合征出血热 (HFRS)多尿期肾图的变化及其意义。方法 :静脉注射 1 31 I-邻碘马尿酸钠 (1 31 I- OIH) 3.7×10 9Bq(10 μCi) ,用闪烁照相法描记 15 min,通过电子计算机自动处理 ,得出肾图的各项参数。结果 :2 0例受检者均已进入多尿期 ,2 4h尿量在 2 0 0 0 ml以上 ,血尿素氮 (BUN)已正常或接近正常 ,但肾图却明显异常 ,表现为半排时间 (TC1 /2 )延长 (>8min) ,15min残留率 (C1 5 /b)超过 5 0 % ,肾脏指数大多低于 45 % ;同期作尿β2 -微球蛋白 (β2 - m )测定 ,也明显高于正常 ;8例作发射型电子计算机扫描 (ECT)检查 ,肾小球滤过率 (GFR)和有效肾血浆流量 (ERPF)分别为 (4 0 .8± 2 1.2 ) ml/min和 (35 0 .8± 10 2 .1) ml/min,均明显低于正常 (P<0 .0 1)。结论 :HFRS患者多尿期肾图大多呈排出不良和功能受损的图形 ,表明该期肾功能以及肾血流量尚未恢复正常 ,对症治疗仍需继续。     

药用辅料在制剂中的应用概述

药用辅料是药物制剂的基础材料的重要的组成部分,在制剂型和生产中起着关键作用,它不仅赋予药物一定剂型,并且与提高药物的疗效,降低毒副作用有很大的关系,因此,研究开发,合理应用辅仅可提高药物制剂质量和生产技术水平,而且可取得较大的社会及经济效益。     

脑梗死患者血浆神经肽Y、降钙素基因相关肽、神经降压素、胃动素动态变化及其临床意义

观察脑梗死(CI)患者神经肽Y(NPY)、神经降压素(NT)、胃动素(MTL)、降钙素基因 相关肽(CGRP)浓度变化及其临床意义。方法选择C162例,用放免法检测血浆NPY、NT、MTL与CGRP浓度。结果NPY、NT与MTL浓度显著高于对照组(P<0.0001);于发病后24h内显著升高,7d内达高峰,8～15d开始下降,15d后仍在较高水平。NPY浓度重型与大灶组显著高于轻型(P<0.05)与小灶组(P<0.01);发病积分≥6分组显著高于<6分组(P<0.05);高血压组显著高于正常血压组(P<0.05)。NT与MTL浓度重型组显著高于中(P<0.05)、轻型组(P<0.01);高血糖组显著高于正常血糖组(P<O.01)。CGRP浓度显著低于对照组(P<0.0001),发病24h内即显著降低,2～7d进一步降低,8～15d开始升高,15d后逐渐升至正常水平。重型与大灶组显著高于轻型(P<0.0001)、中型(P<0.01)与小灶组(P<0.01);伴发病积分≥6分组显著低于<6分组(P<0.05)。结论CI患者NPY、NT、MTL、CGRP浓度变化以7d内最显著,15d后逐渐恢复正常水平;四种浓度监测可作为判断CI患者病情严重程度、病灶大小及伴发病的实验室指标。     

蠕变局部损伤开裂的有限元模型

建立了蠕变局部损伤法模型,并给出单元进入损伤态的判据和失效的临界拉伸应变条件,局部蠕变损伤理论的实质就是试样是多种不同蠕变性能材料的统一,并由蠕变应力再分布得到证实,应用有限元对双缺口圆试样作了蠕变局部损伤分析,启裂时间和断裂蠕变应变值均与实验结果相吻合。     

Study of therapeutic mechanism of acupuncture in treating bronchial asthma

Ｉｔｈａｓｂｅｅｎｃｏｎｓｉｄｅｒｅｄｂｙｍｏｄｅｒｎｍｅｄｉｃｉｎｅｔｈａｔｂｒｏｎｃｈｉａｌａｓｔｈｍａｉｓａｃｈｒｏｎｉｃａｉｒｗａｙａｌｌｅｒｇｉｃｉｎｆｌａｍｍａｔｉｏｎ（ＡＡＩ）ｗｈｉｃｈｉｓｔｈｅｍａｊｏｒｆａｃｔｏｒｔｈａｔｉｎｄｕｃｅｓｒｅｖｅｒｓｉｂｌｅａｉｒｗａｙｖｅｎｔｉｌａｔｉｎｇｄｉｓｔｕｒｂａｎｃｅａｎｄｂｒｏｎｃｈｉａｌｈｙｐｅｒ ｒｅ ｓｐｏｎｓｉｖｅｎｅｓｓ（ＢＨＲ）ｉｎａｓｔｈｍａｔｉｃｐａｔｉｅｎｔｓ,ａｓｗｅｌｌａｓａｃｏｒｒｅｌａｔｉｏｎｂｅｔｗｅｅｎｔ…     

Off-clamp Retroperitoneoscopic Tumour Evacuation for Sporadic Renal Angiomyolipomas with High RENAL Nephrometry Scores: A Novel Surgical Technique and Its Outcomes

BackgroundPartial nephrectomy or angioembolisation is commonly used for sporadic renal angiomyolipomas (RAMLs) with high RENAL scores, but there is a risk of reduced renal function, postoperative complications, and recurrence.ObjectiveTo describe a new technique for off-clamp laparoscopic evacuation of sporadic RAMLs with high RENAL scores that promotes maximal renal function maintenance and low postoperative complication and lesion recurrence rates.Design, setting, and participantsA retrospective cohort of patients undergoing off-clamp laparoscopic evacuation for sporadic RAMLs with RENAL scores ≥9 from January 2013 to June 2018 was included.Surgical procedureWe highlighted the curettage, suction, packing, and binding (CSPB) technique, a new off-clamp retroperitoneoscopic evacuation technique for sporadic RAMLs.MeasurementsDemographics, preoperative, intraoperative, and postoperative outcomes were assessed.Results and limitationsA total of 141 cases were included. The median (interquartile range [IQR]) tumour size was 7 (6.2–8.2) cm. The median (IQR) RENAL score was 10 (9–11). The median (IQR) operative time was 80 (65–125) min, with a median (IQR) estimated blood loss of 130 (90–362.5) ml. Conversion to neither open surgery nor standard laparoscopy occurred. The warm ischaemia time was zero for all cases. Postoperatively, 13 minor complications (Clavien grade 1) were recorded. No blood transfusions were reported. The glomerular filtration rate did not change significantly from preoperative period to 12-mo follow-up. Recurrence did not occur at the median follow-up period of 48 (36–60) mo. The retrospective design and lack of a control group are limitations of this study.ConclusionsOff-clamp retroperitoneoscopic tumour evacuation using the CSPB technique is feasible, safe, and effective for treating complex sporadic RAMLs.Patient summaryWe report a curettage, suction, packing, and binding technique for off-clamp retroperitoneoscopic evacuation of sporadic renal angiomyolipomas that leads to complete lesion clearance, excellent renal function preservation, and minimal perioperative complications.