Efficacy of Getong Tongluo Capsule(葛酮通络胶嚢)for Convalescent-Phase of Ischemic Stroke and Primary Hypertension:A Multicenter,Randomized,Double-Blind,Controlled Trial

Objective:To evaluate whether the efficacy of Getong Tongluo Capsule(葛酮通络胶囊,GTC,consisted of total flavone of Radix Puerariae)on improving patients'quality of life and lowering blood pressure are superior to the extract of Ginkgo biloba(EGB)for patients with convalescent-phase ischemic stroke and primary hypertension.Methods:This randomized,positive-drug-and placebo-controlled,double-blind trial was conducted from September 2015 to October 2017.Totally 477 eligible patients from 18 hospitals in China were randomly assigned in a 2:1:1 ratio to the following interventions,twice a day for 12 weeks:(1)GTC 250 mg plus EGB-matching placebo 40 mg(237 cases,GTC group),(2)EGB 40 mg plus GTC-matching placebo 250 mg(120 cases,EGB group)or(3)GTC-matching placebo 250 mg plus EGB-matching placebo 40 mg(120 cases,placebo group).Moreover,all patients were orally administered aspirin enteric-coated tablets 100 mg,once a day fo r 12 weeks.The primary outcome was the Barthel Index(Bl).The secondary outcomes included the control rate of blood pressure and National Institutes of Health Stroke Scale(NIHSS)scores.The incidence and severity of adverse events(AEs)were calculated and assessed.Results:The Bl relative independence rates,the clinical recovery rates of NIHSS,and the total effective rates of NIHSS in the GTC and EGB groups were significantly higher than the placebo group at 12 weeks after treatment(P<0.05),and no statistical significance was found between the GTC and EGB groups(P>0.05).The control rate of blood pressure in the GTC group was significantly higher than the EGB and placebo groups at 12,18 and 24 weeks after treatment(P<0.01).There were no statistically significant differences in the incidences of AEs,adverse drug reactions,or serious AEs among the 3 groups(P>0.05).Conclusion:GTC exhibited significant efficacy in improving patients'quality of life as well as neurological function and controlling hypertension.     

抗震救灾中的传染病防治工作原则

人类的历史教训证明,包括大地震在内的严重自然灾害,对地域生态环境和人类居住条件造成极大的破坏,对灾区人员的健康造成沉重的打击.在这种情况下,发生重大传染病流行的风险将会显著增加.汶川大地震发生后,搜寻生还者,抢救伤病员是抗震救灾第一阶段的重点.     

A Bibliometrics Analysis on Academic Influence of Chinese Journal of Integrated Traditional and Western Medicine

Objective:To illustrate the academic influence of Chinese Journal of Integrated Traditional and Western medicine,and provide suggestions for further development of the Journal.Methods:Taking the China National Knowledge Infrastructure(CNKI)database as main source and the Chinese Science Citation Database(CSCD)as reference,the researchers retrieved the related data of the Journal such as its publication quantity,citations,fund projects,authors,institutions and regions from 1981 to 2018,analyzed these data by means of bibliometrics and information visualization with EXCEL,SPSS,VISIO,MATLAB and other softwares.Results:Through the analysis of the main indicators,the relevant indicators of the Journal’s academic influence revealed the developing trend of the Journal.Cardiovascular and cerebrovascular diseases,endocrine,digestive system,pharmacological research of Chinese medicine and gynecology,as the hot topics in the discipline and academic,were clarified.Conclusions:All indicators show that the Journal is a high-quality journal reflecting the excellent achievements in the field of integrated Chinese and Western medicine in China.Through further analysis of relevant indicators,the authors put forward some specific suggestions on how to run the Journal well.     

考试制度管理与改革之我见

分析目前考试制度存在的主要问题有命题、复习题、补考制度等方面的弊端,提出考试制度的改革要在加强"三风"建设、做好试题的编审工作、建立完善的考试管理制度、严肃补考纪律等方面下工夫,让严肃的考风带动良好的学风,从而提高教学质量.     

国际心肺移植新进展——2006年第26届国际心肺移植协会年会报道

2006年4月5日至4月8日第26届国际心肺移植协会(ISHLT)年会在西班牙马德里隆重召开,来自全世界从事心肺移植的专家,包括心外科、胸外科、心内科、呼吸科、麻醉科、ICU、病理科、供体协调等从事基础及临床研究等相关科室的专家共2 000多人参加了此次盛会.     

Vogt-小柳-原田综合征误诊1例报告

1临床资料 患者,男,29岁.入院前10d双眼视力突然下降,伴轻微头痛,曾就诊于其他医院,经眼科常规检查及眼部B超检查,诊断为原发性视网膜脱离,用药不详,因治疗效果不佳,于2002年10月18日来本院就诊.入院时自诉头痛明显,全身状况不佳,视力:右眼指数/1 m,左眼指数/1 m,双眼轻度睫状充血,角膜后可见细小点状沉着物,房水闪辉阳性,瞳孔呈药物性散大,直径5.5 mm,晶体不混浊,玻璃体可见条状混浊,眼压正常.     

婴幼儿游泳探讨

游泳是人类生活中最自然的生理活动和本能之一。不仅人类，哺乳动物也常有游泳行为，是生活中自然形成和掌握的一种本能。我们认为人和动物一样，生来就具有适应环境的能力。很多动物，无论大小都有游泳本领，不用谁来教，在水中通过多种姿势和划水方法，他们都会把鼻子露出水面，往岸上游。可是人类这种本能后来泯灭了。我们认为社会就是大海，人生就如在大海中游泳，从小让孩子在水中学会挣扎，锻炼拼搏精神，促进胎儿到婴幼儿神经及各脏器的持续发育，使生长的过程得到进一步、更高质量的发展，这对他们一生的好处都是不可估量的。     

头孢氨苄胶囊致过敏反应1例

1 临床资料 患者,男,66岁.因受凉后出现咳嗽、咯痰2d,其家属给予头孢氨苄胶囊0.5g口服后约10min后患者出现胸闷、心慌、呼吸困难、口唇紫绀,继而出现心悸出汗、全身无力、意识丧失、血压下降(60/30mmHg).医护人员迅速到达现场急救,立即给予吸氧、肌注肾上腺素1mg,静注地塞米松10mg,异丙嗪25mg,用药10min后病情好转,测血压80/60mmHg,1h后恢复正常.     

中国医药生物技术协会纳米生物技术分会批准成立大会在深圳召开

2007年12月31日,中国医药生物技术协会纳米生物技术分会批准成立大会在深圳市召开来自全国纳米生物技术领域的近百所大学、中科院研究所、医院、药厂、公司的院士、教授、主任医师、工程技术人员、企业主管出席了成立大会.会议由中国科学院姚开泰院士、中国工程院何继善院士、上海交通大学彭志海教授主持.复旦大学、北京大学、中南大学、清华大学、上海交通大学、四川大学、中山大学、浙江大学、中科院理化所、解放军总医院、石药集团、纳米生物技术公司等单位作了重要发言.     

东方大峡谷的民族医药之花——云南傈僳族医药简介

傈僳族是我国民族大家族中一个人数不多但却古老的成员.主要聚居在云南省怒江傈僳族自治州,在丽江和迪族、大理、保山、德宏、临沧等州县,以及四川省的盐源、盐边等县也有分布.根据2000年第5次全国人口普查统计,傈傈族人口数为634912.     

EDM1: a novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia

Background Multiple epiphysis dysplasia (MED) is a common skeletal dysplasia with a significant locus heterogeneity.In the majority of clinically defined.cases,mutations have been identified in the gen...     

多发性骨骺发育不良患者软骨寡聚物基质蛋白基因突变的研究

目的：探讨我国多发性骨骺发育不良患者中软骨寡聚物基质蛋白(COMP)基因的突变情况。方法：应用聚合酶链反应—单链构象多态性技术(PCR-SSCP)结合DNA直接测序对我国临床诊断为多发性骨骺发育不良的10例患者，其10名父母及30名正方对照进行COMP基因第10，13和14外显子区域突变分析。结果：正方对照SSCP分析均表现为相同带型。1例散发重型患者COMP基因外显子14区检测到单链泳动变位，测序结果显示第14内含子的近5′端存在纯合性G→A变异。结论：该变异可能是一种新型点突变，与患儿临床表型有关，也可能是COMP基因第14内含子中的一种单核苷酸多态。     

Genetic analysis and serum level of cartilage oligomeric matrix protein in patients with pseudoachondroplasia

Background Pseudoachondroplasia （PSACH） is an autosomal-dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein （COMP）.Clinical diagnosis of PSACH is based primarily on family history, physical examination, and radiographic evaluation.There is evidence that decreased serum COMP concentration may serve as a diagnostic marker in PSACH.Here, we investigated the role of this gene and the serum COMP concentration in Chinese patients with PSACH.Methods A family with three patients and a sporadic case were recruited.Genomic and phenotypic data were recorded.The diagnosis of PSACH was made on the base of clinical evaluation.The genomic DNA was extracted from peripheral blood leukocytes.The 8-19 exons and flanking intron-exon boundary sequences of COMP were amplified by polymerase chain reaction （PCR） and screened for mutation by direct DNA sequencing.Serum COMP concentrations of 4 patients and age-compatible control group of 20 unrelated healthy subjects were analyzed on the basis of an ELISA Kit for human cartilage oligomeric matrix protein.Results A deletion （c.1447-1455del） was identified in exon 13 in the sporadic case.The mean serum COMP concentrations of four patients （3.12±2.28） were significantly lower than those of control group （10.86±2.21, P 〈0.05）.There was no overlap in the distribution of serum COMP concentration between PSACH patients and controls.Conclusions Mutations in COMP gene are responsible for the PSACH.Serum COMP concentration may be suggested as an additional diagnostic marker to aid clinical findings in suspected cases of PSACH.     

汉族家族性肥厚型心肌病患者的MYH7基因R663H、E924K突变

目的研究中国人家族性肥厚型心肌病(HCM)的致病基因突变位点,分析基因型与临床表型的相互关系。方法对5个家族性HCM的先证者进行β-肌球蛋白重链基因(β-MHC)扫描,聚合酶链反应(PCR)扩增其功能区外显子片段,双脱氧末端终止法测序。对阳性测序结果者进行家系中其他成员筛查,并分析患者临床表型特点。结果在其中2个家系中分别发现R663H、E924K杂合突变,而正常对照组同一位置未见异常,E924K在我国HCM患者中首次发现。结论β-MHC为我国家族性HCM的致病基因之一。其临床表型的异质性提示多因素参与了HCM的发生及外显。     

GJA8基因错义突变致先天性白内障一家系遗传分析

目的 通过使用外显子测序定位分析一先天性白内障家系中GJA8基因致病错义突变。方法 对2020年6月在昆明医科大学第二附属医院就诊的一个先天性白内障家系全体成员进行详细的临床眼科检查及全身查体。采集先证者及6个亲属外周血并提取基因组DNA,应用全外显子测序筛查可疑致病基因,使用生物信息工具对可疑基因突变进行致病性分析,并对家系全部成员进行Sanger测序验证候选致病突变。结果 外显子测序及生物信息学分析显示GJA8基因存在一个错义突变c.593G> A,p.R198Q,导致其第198位氨基酸残基由谷氨酰胺取代了原有的脯氨酸。氨基酸保守性分析显示该突变影响的氨基酸在物种间高度保守。在家系全部受检者中进行的Sanger测序结果表明该突变与疾病表型共分离,可以认定该突变是该突变为该家系的致病性突变,系谱分析显示该突变所致先天性白内障呈现常染色体显性遗传。结论 位于GJA8基因的错义突变c.593G>A,p.R198Q是导致该家系出现先天性白内障的遗传病因,遗传方式为常染色体显性遗传。     

X性连锁少汗性外胚叶发育不良一家系的基因诊断

目的利用直接测序法对一中国汉族人X性连锁少汗性外胚叶发育不良家系进行基因诊断。方法采用聚合酶链反应扩增该家系中两名临床诊断为X性连锁少汗性外胚叶发育不良的患者、患者父母以及100例健康对照者ED1基因的8个外显子,进行DNA直接测序。结果两名患者ED1基因的第9外显子第1045位的碱基鸟嘌呤G被腺嘌呤A替代,患者母亲同一位置碱基呈现G～A杂峰,患者父亲和100例无关健康对照均未见此改变。结论错义突变c.1045A〉G是导致该X性连锁少汗性外胚叶发育不良家系临床表型的主要原因。     

少汗性外胚叶发育不全(HED)家系ED1基因的突变检测

目的：研究少汗性外胚叶发育不全引起先天缺牙的ED1基因突变。方法：对3个少汗性外胚叶发育不全核心家系进行外周血基因组DNA的提取。利用聚合酶链反应、DNA直接测序进行突变检测，进一步采用限制性内切酶酶切验证突变。结果：3个家系中的每位患者均存在ED1基因外显子不同位点的单碱基错义突变，分别为C412G、A1201G和C1375T，其中前两个突变位点是国内外首次报道的。结论：ED1基因的单碱基突变是引起此3个核心家系少汗性外胚叶发育不全的致病突变。     

Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas

Background  Multiple osteochondromas (MO), an inherited autosomal dominant disorder, is characterized by the presence of multiple exostoses on the long bones. MO is caused by mutations in the EXT1 or EXT2 genes which encode glycosyltransferases implicated in heparin sulfate biosynthesis.

Methods  In this study, efforts were made to identify the underlying disease-causing mutations in patients from two MO families in China.

Results  Two novel EXT1 gene mutations were identified and no mutation was found in EXT2 gene. The mutation c.497T>A in exon 1 of the EXT1 gene was cosegregated with the disease phenotype in family 1 and formed a stop codon at amino acid site 166. The fetus of the proband was diagnosed negative. In family 2, the mutation c.1430-1431delCC in exon 6 of the EXT1 gene would cause frameshift and introduce a premature stop codon after the reading frame being open for 42 amino acids. The fetus of this family inherited this mutation from the father.

Conclusions  Mutation analysis of two MO families in this study demonstrates its further application in MO genetic counseling and prenatal diagnosis.

     

家族性腺瘤性息肉病家系成员APC基因胚系突变分析

目的分析家族性腺瘤性息肉病(familial adenomatous polyposis pedigree,FAP)一家系成员结肠腺瘤性息肉病(aenomatous polyposis coli,APC)基因突变类型。方法对本区一家系3代9人抽取静脉血试剂盒提取白细胞DNA,应用聚合酶链反应(Polymerase chainreaction,PCR)方法扩增APC全基因,制备DNA测序的模板,用DNA自动测序仪进行测序,并利用生物信息学方法进行分析。结果9名家族性腺瘤性息肉病家系成员结果一致,共检出2类APC基因突变类型,无意义突变:1493(ACG>ACA)、1756(TCT>TCG)和错义突变:1822(GTC>GAC)。结论9名家系成员具有一致的APC基因突变类型组合,这种组合可能是引起该家系临床表型的原因。     

常染色体显性遗传性听神经病家系全外显子组测序分析

目的：在多年围绕1个常染色体显性遗传性非综合征型听神经病家系开展系统分子遗传学研究的基础上,进一步探讨该家系耳聋的致病机制,以期发现新的听神经病致病基因和突变位点。方法：对3例耳聋患者和1例配偶进行全外显子组测序,初步筛选出与家系耳聋相关的候选致病基因。采用PCR-Sanger测序法,检测上述候选基因变异是否与家系表型共分离。最后,以50例与研究家系无关的听力正常人为对照,检测候选致病突变在正常群体中的突变频率和SNPs遗传多态性。结果：全外显子测序分析得到41个候选致病基因突变;用PCR-Sanger测序法对核心家系的9名成员和2名家系外听力正常人进行验证,仅发现1个基因突变（ALOX15B 7942797 C>T）与家系耳聋表型共分离。选取50例家系外正常对照的DNA样本对ALOX15B基因进行PCR扩增和序列分析,结果显示有2例听力正常人也检测到该基因的同一变异,提示该变异为SNPs遗传多态性。结论：对核心家系成员的全外显子组测序分析和Sanger测序法验证未发现有意义的突变位点,排除了该家系耳聋由基因编码区突变及Indels致病的可能性。