Molecular basis of von Hippel-Lindau syndrome in Chinese patients

Background  Von Hippel-Lindau (VHL) syndrome is an autosomal dominant familial cancer syndrome predisposing the affected individuals to multiple tumours in various organs. The genetic basis of VHL in Southern Chinese is largely unknown. In this study, we characterized the mutation spectrum of VHL in nine unrelated Southern Chinese families.

Methods  Nine probands with clinical features of VHL, two symptomatic and eight asymptomatic family members were included in this study. Prenatal diagnosis was performed twice for one proband. Two probands had only isolated bilateral phaeochromocytoma. The VHL gene was screened for mutations by polymerase chain reaction, direct sequencing and multiplex ligation-dependent probe amplification (MLPA).

Results  The nine probands and the two symptomatic family members carried heterozygous germline mutations. Eight different VHL mutations were identified in the nine probands. One splicing mutation, NM_000551.2: c.463+1G>T, was novel. The other seven VHL mutations, c.233A>G [p.Asn78Ser], c.239G>T [p.Ser80Ile], c.319C>G [p.Arg107Gly], c.481C>T [p.Arg161X], c.482G>A [p.Arg161Gln], c.499C>T [p.Arg167Trp] and an exon 2 deletion, had been previously reported. Three asymptomatic family members were positive for the mutation and the other five tested negative. In prenatal diagnosis, the fetuses were positive for the mutation.

Conclusions  Genetic analysis could accurately confirm VHL syndrome in patients with isolated tumours such as sporadic phaeochromocytoma or epididymal papillary cystadenoma. Mutation detection in asymptomatic family members allows regular tumour surveillance and early intervention to improve their prognosis. DNA-based diagnosis can have an important impact on clinical management for VHL families. 

     

某贫困山区已婚妇女妇科病普查与思考

目的 为掌握农村已婚妇女发病原因及影响因素,采取相应措施,保障妇女健康.方法 以乡为单位设点进行普查.结果 农村已婚妇女患病率高达86.44%,由于患病得不到及时治疗,小病拖大,因病返贫.讨论1.环境条件限制;2.经济贫穷影响;3.文化层次落后;4.早婚早育因素;5.卫生观念淡薄;6.防治措施不力.建议 1.加强政府行为,部门协调配合;2.改善自然条件,快速发展经济;3.加强健康教育,普及保健知识;4.健全妇幼网底,培训村级人员;5.采取有力措施,保障妇女健康;6.加强六期保健,提高妇女素质.     

寒天新战士增食脂肪和抗氧化剂对血脂及MDA无影响

目的　为进一步验证在寒冷环境下 ,高脂膳食是否引起人体血脂代谢的变化 .方法　选择驻寒区部队冬季入伍新战士 2个连队 1 5 8人 ,进行了现场研究 .设普食对照组 (脂肪生热比 :2 5 %左右 ) ,普食加 Zn 30 mg· d- 1 组 ,高脂组 (脂肪生热比 30 %左右 ) ,高脂加 Vit E30 0 mg· d- 1组 ,高脂加 Vit C6 0 0 mg· d- 1 组 .实验期 2 5 d.结果　实验前三酰甘油含量普食对照组、普食加 Zn组、高脂组、高脂加 Vit E组、高脂加 Vit C组分别为 (mmol· L- 1 ) 1 .5± 0 .5 ;1 .0± 0 .3;1 .9± 0 .6 ;1 .3±0 .6 ;1 .8± 0 .8.实验后分别为 (mmol· L- 1 ) 2 .0± 0 .8;1 .7±0 .8;1 .4± 0 .6 ;1 .3± 0 .5 ;1 .4± 0 .6 .总胆固醇含量 ,实验前各组分别为 (mmol· L- 1 ) 7.0± 2 .3;6 .3± 2 .1 ;6 .1± 1 .7;6 .2±1 .6 ;6 .1± 1 .7.实验后分别为 (mmol· L- 1 ) 4 .4± 1 .5 ;4.0±1 .3;4.5± 1 .8;4.7± 1 .7;5 .5± 1 .4.MDA含量实验前各组分别为 (nmol· L- 1 ) 6 .1± 1 .6 ;5 .1± 0 .9;6 .4± 1 .5 ;5 .4± 1 .2 ,5 .4± 1 .6 .实验后分别为 (nm ol· L- 1 ) 5 .3± 2 .1 ;5 .2± 2 .0 ;5 .7± 2 .3;5 .3± 2 .1 ;5 .4± 2 .2 .结论　实验期内适量补充脂肪和抗氧化剂不影响血脂水平和 MDA含量     

Chronic treatment of enbrel in rats with isoproterenol- induced congestive heart failure limits left ventricular dysfunction and remodeling

Objective To investigate the effect of chronic treatment of enbrel (EB), a TNF- α antagonist, in a well defined congestive heart failure (CHF) rat model and test the hypothesis that chronic treatment of EB in CHF rats may limit the progression of Left ventricular (LV) dysfunction and structure remodeling and decrease cardiac IL- 1β levels. Methods We measured cardiac conformation, contractile performance and cytokines level in 8 age- matched normal adult rats (control group) and 8 rats with isoproterenol (ISO)- induced Heart failure (ISO group) and 8 rats with ISO- induced lesion but received EB treatment (EB group). Results LV end diastolic diameter and LV end systolic diameter in EB group were significantly less and LV fractional shortening was significantly larger than ISO group (9. 2±0. 3 mm vs 9. 5±0. 2 mm, 5. 8±0. 5 mm vs 6. 5±0. 3 mm, 0. 37±0. 03 vs 0. 31±0. 02,P<0. 05,P<0. 01,P<0. 01 respectively）, but there was no significant difference of LV posterior wall thickness at end diastole between the two groups; LV end systolic pressure (P ES ), dp/dt max in EB group were significantly greater than ISO group (104. 8±4. 6 mm Hg vs 98. 4±4. 9 mm Hg, 8395±940 mm Hg/s vs 6898±612 mm Hg,P<0. 05,P<0. 01 respectively), and LV end diastolic pressure (P ED ), dp/dt min , time constant of LV relaxation were significantly lower than ISO group (3. 8±0. 6 mm Hg vs 7. 1±0. 8 mm Hg, -5963±475 mm Hg/s vs -5030±316 mm Hg/s, 15. 4±0. 8 ms vs 21. 3±1. 4 ms,P<0. 01, respectively）. Although cardiac contractile performance in the EB group was greatly improved, there still was a big gap when compared with the control group. The ratio of LV weight to body weight in the EB group was significantly higher than control group （2. 82±0. 07 mg/g vs 2. 28±0. 08 mg/g,P<0. 01）, but there was no significant difference when compared with the ISO group. There was no significant difference between the serum level of TNF- α in EB group and ISO group, the it could not be detected in control group. TNF- α levels in LV of EB group was significantly higher than control group, （757. 6±46. 8 pg/g vs 367. 5±22. 7 pg/g,P<0. 01）, but there was no significant difference when compared with ISO group. The IL- 1β level in LV of EB group was significantly lower than ISO group （356. 2±28. 5 pg/g vs 518. 4±32. 5 pg/g,P<0. 05）, and it could not be detected in control group. The serum level of IL- 1β could not be detected in any rats. Conclusion EB administered as soon as possible when ISO induced myocardial necrosis occurs can greatly improve cardiac contraction, and the improvement may be partly due to a decrease in the IL- 1β level in LV, besides the direct blocking effect of EB on TNF- α. EB can alleviate cardiac remodeling by its effect on LVEDD.      

注意缺陷多动障碍儿童的智力结构及社会适应行为特点

①目的　探讨注意缺陷多动障碍 (ADHD)儿童智力结构及社会适应行为特点。②方法　选取ADHD病儿 4 8例 ,健康儿童 4 8例 ,利用韦氏学龄智力量表和社会适应行为评定量表评定其智力和社会适应能力 ,比较其智力结构和适应行为特点。③结果　智力方面ADHD病儿言语智商 (10 1.2 3± 7.4 5 )高于其操作智商 (89.72± 8.0 0 ) ,差异有显著性 (t=2 .2 4 1,P <0 .0 5 ) ,ADHD病儿言语、操作及总智商 (10 1.2 3± 7.4 5 ,89.72± 8.0 0 ,94 .12±10 .2 8)均低于对照组 (10 5 .4 6± 8.70 ,10 2 .85± 9.36 ,10 4 .2 0± 8.5 7) ,差异有显著性 (t=2 .0 12～ 2 .5 4 7,P <0 .0 5 ) ;不分心因子和获得因子得分 (16 .10± 3.86 ,2 5 .4 7± 5 .0 1)低于对照组 (2 0 .0 0± 3.94 ,2 9.33± 4 .4 6 ) ,差异有显著性(t=2 .76 4 ,3.2 2 3,P <0 .0 1)。社会适应方面ADHD病儿独立功能因子得分和认知因子得分 (6 1.2 0± 6 .14 ,5 6 .80± 5 .86 )高于对照组 (5 1.6 6± 5 .4 7,4 8.2 4± 4 .98) ,差异有显著性 (t=2 .5 6 0 ,2 .5 89,P <0 .0 5 ) ,而社会 自制因子得分 (40 .32± 6 .2 2 )显著低于对照组 (5 7.86± 6 .0 3) (t =2 .4 12 ,P <0 .0 5 )。④结论ADHD病儿智力结构和社会适应能力存在缺陷 ,积极防治对保证其智力发     

血液粘度正常范围调查及130例临床分析

用全自动血液流变学检测系统测定 14 6例健康成人 ,6 5例心脑血管疾病 ,6 5例高血压病的全血粘度值和血浆粘度值。结果显示 :14 6例健康成人血液粘度测定值 :切变率为 2 0 0S-1、30S-1、3S-1时 ,全血粘度值 ( x±s以下同 )男性分别为 :6 .2 4± 0 .48、7.10± 0 .5 9、12 .34± 1.32 ,女性分别为 :5 .87± 0 .47、6 .5 9± 0 .48、12 .2 0± 1.30 ,血浆粘度值男性 1.6 2±0 .1、女性 1.5 4± 0 .0 9;不同性别间血液粘度测量指标差异有显著性 (P <0 .0 1)。疾病组高血压症全血粘度 ,男性 :8.14± 1.36、8.97± 1.5 1、16 .6 1± 2 .81,女性 :7.31± 1.2 1、8.0 1± 1.34、15 .18± 2 .6 4,血浆粘度值男性 :1.6 1± 0 .18、女性 :1.6 7± 0 .19;脑栓塞组全血粘度值男性为 :8.99± 2 .2 0、9.92± 2 .2 7、18.71± 4.94,女性 7.39± 1.10、8.15± 1.2 1、15 .2 1± 2 .34,血浆粘度男性 :1.6 5± 0 .2 1、女性 :1.75± 0 .2 0 ;冠心病组全血粘度 :7.41± 1.30、8.18± 1.44、15 .40± 2 .84,血浆粘度值 :1.6 4± 0 .2 4;脑出血全组全粘度值 :7.34± 1.2 0、8.11± 1.32、15 .2 0± 2 .40 ,血浆粘度 :1.75± 0 .2 0。疾病组血液粘度明显高于健康成人组 (P <0 .0 1)。     

新生儿脐血血液流变学观察

目的 :观察新生儿脐血的血液粘度、血浆粘度、红细胞压积、血沉、红细胞电泳情况。方法 :新生儿分娩断脐后立即抽取脐血 4ml+肝素抗凝 ,并立即送检 ,采用北京普利生 L BY- N6 A自清洗旋转式粘度计检验。结果 :母体为正常生理妊娠的新生儿组 :全血低切粘度 8.91± 6 .79m pa· s,全血高切粘度 5 .6 6± 2 .0 mpa· s,血浆粘度 1 .46± 0 .2 4m pa· s,红细胞压积 5 0 .1±1 8.4% ,血沉 2 .1 4± 1 .36 mm/ h,红细胞电泳 1 5 .82± 3.79s;母体为妊高征的新生儿组 :全血低切粘度 1 1 .96± 7.38m pa· s,全血高切粘度 6 .48± 1 .5 7mpa· s,血浆粘度 2 .5 3± 1 6 .4mpa· s,红细胞压积 31 .47± 0 .35 % ,血沉 1 .6 8± 1 .43mm/ h,红细胞电泳1 5 .6 8± 3.43s;正常妇女组 :全血低切粘度 2 2 .33± 6 .88mpa· s,全血高切粘度 4.5 0± 0 .5 4mpa· s,血浆粘度 1 .73± 0 .0 9mpa· s,红细胞压积 41 .0 9± 2 .6 0 % ,血沉 1 7.0 9± 6 .35 mm/ h,红细胞电泳 2 1 .0 4± 1 .44 s。结论 :孕期母体血液流变学变化对新生儿影响较小     

Clinical significance of serum cardiac troponin T in patients with congestive heart failure

Objective To determine whether the level of serum cardiac troponin T (cTnT) was increased in patients with congestive heart failure (CHF). Methods This study consisted of 265 patients with CHF and 75 healthy people. Serum cTnT was measured by electrochemiluminescence immunoassay using an Elecsys 1010 automatic analyzer. Results cTnT concentration was 0. 181±0. 536 ng/mL in CHF patients and 0. 003±0. 001 ng/mL in controls (P&lt;0. 001). Patients were categorized according to the levels of heart function and left ventricular ejection fraction (LVEF). In the first group consisting of 105 patients with LVEF≤35%, cTnT was 0. 311±0. 221 ng/mL. In the second group of 106 patients with LVEF&gt;35%, cTnT was 0. 07±0. 0 5ng/mL (P&lt;0. 01). In patients with NYHA class Ⅰ, Ⅱ, Ⅲ and Ⅳ, cTnT values were 0. 062±0. 022 ng/mL, 0. 113±0. 121 mg/mL, 0. 191±0. 231 mg/ml and 0. 384±0. 211 mg/mL, respectively (class Ⅰ vs class Ⅱ P&gt;0.05, class Ⅱ vs clas s Ⅲ P&lt;0. 01, class Ⅲ vs class Ⅳ P&lt;0. 01). A negative correlation was observed between serum cTnT concentration and LVEF in 265 patients with CHF ( r=-0. 493, P&lt;0. 001). Conclusions This study shows that the level of serum cTnT is increased in patients with CHF and that the increased level indicates the severity of CHF.     

改良S.T.O.N.E.肾结石评分系统预测软性输尿管镜碎石术术后结石清除率的准确性研究

目的：　对已建立的改良S.T.O.N.E.肾结石评分系统进行外部验证,评价该预测模型用于软性输尿管镜碎石术（flexible ureteroscopic lithotripsy,FURL）后结石清除率的有效性。方法：　收集2018年5月至2021年10月北京大学第三医院泌尿外科一期FURL治疗肾结石的连续病例资料,对改良S.T.O.N.E.肾结石评分系统进行评分,应用logistic回归模型分析改良S.T.O.N.E.评分及其变量与结石清除率的相关性,分别应用受试者工作特征曲线（receiver operating characteristic curve,ROC）和Hosmer-Lemeshow 拟合优度检验验证预测模型的区分度和校准度。结果：　本组396例FURL手术均成功完成,一期结石清除率为76.8%,改良S.T.O.N.E. 肾结石评分4~12分,中位数6分,评分结果与FURL术后SFR显著相关（OR=6.627,95%CI=3.620~12.131,P=0.001）,FURL术后结石清除状态的ROC的AUC为0.778（95%CI=0.723~0.834）,Hosmer-Lemeshow 拟合优度检验结果显示拟合度良好（χ²=0.824,P=0.844）。结论：　改良S.T.O.N.E.肾结石评分系统预测FURL术后的结石清除状态准确性高,有助于术前评估和临床决策。     

Increased expression of myocardial semaphorin 3A in isoproterenol-induced heart failure rats

Background  Maintenance of normal cardiac function is controlled by the autonomic nervous system. In congestive heart failure (CHF), sympathetic nerve denervation is increasingly recognized. The sympathetic fiber density depends on the balance between neurotrophins and neural guidance molecules. Semaphorin 3A (sema3a), a secreted neural guidance factor, is a well characterized member of the newly found semaphorin family. It can induce sympathetic growth cone collapse and axon repulsion. We conducted this study to investigate cell sources of sema3a in the heart, the expression level of sema3a in CHF and discuss the possible role of sema3a in CHF.

Methods  Rats were divided into four groups: 30 days control group rats, 30 days CHF rats, 60 days control group rats, 60 days CHF rats. The heart failure model was induced by injection of isoproterenol (ISO) 340 mg/kg continuously two days. All animals underwent echocardiography and haemodynamics measurements. Cardiac expression of sema3a was determined by real time polymerase chain reaction (RT-PCR) and Western blotting analysis. Immunohistochemical analysis was used to determine the cell source of sema3a in the heart.

Results  Isoproterenol induced 30 days and 60 days CHF rats displayed left ventricular dilation, systolic and diastolic function decrease. Sema3a was secreted by the cardiocytes and increased significantly in 30 days and 60 days CHF rats compared with the controls (RT-PCR: 30 days group: 0.32±0.05 vs. 0.58±0.06, P <0.01; 60 days group: 0.34±0.08 vs. 0.71±0.07, P <0.01. Western blotting: 30 days group: 0.25±0.10 vs. 0.46±0.10, P <0.05; 60 days group: 0.29±0.10 vs. 0.55±0.16, P <0.01. Immunohistochemical analysis：30 days group: 2.91±0.20 vs. 5.31±0.30, P <0.01; 60 days group: 2.94±0.30 vs. 5.80±0.30, P <0.01).

Conclusions  Sema3a was expressed in the heart by cardiocytes. Increased expression of sema3a may partly account for sympathetic denervation in CHF; modulation of this pathway may prove beneficial in heart failure sympathetic remodeling.

     

耳内镜诊断治疗外耳道胆脂瘤

目的探讨耳内镜手术治疗外耳道胆脂瘤的方法、疗效及适应证。方法分析经临床和病理确诊的21例外耳道胆脂瘤的临床情况：按Holt分期：I期17耳,Ⅱ期2耳,Ⅲ期2耳。I期局限于外耳道的外耳道胆脂瘤行外耳道胆脂瘤清除术;II期伴外耳道狭窄或闭锁的外耳道胆脂瘤行胆脂瘤清除术加外耳道戍形术;Ⅲ期侵及中耳的外耳道胆脂瘤行改良乳突根治术。所有患者随访3个月-半年。结果20耳术后无复发,Ⅱ期1例外耳道狭窄术后复发加作外耳道成形。结论外耳道胆脂瘤不同分期采用不同手术方法治疗。耳内镜手术治疗适用于外耳道胆脂瘤I期。     

急诊彩超对腹部外伤诊断的价值

目的:探讨急诊彩超对腹部外伤诊断的价值。方法:采用回顾性分析的方法,分析120例腹部外伤患者的临床资料。结果:超声检查腹部外伤诊断结果与手术探查结果差异无统计学意义(P>0.05)。结论:急诊彩超对腹部外伤诊断准确率高,可作为腹部外伤首选检查方法,值得临床推广应用。     

硬通道技术脑室外引流与传统方法的比较

目的报告一种简单、快捷的脑室外引流方法。方法分析比较传统方法(颅骨钻孔脑室外引流24例)与硬通道技术方法(采用YL-1型针钻一体针行脑室外引流42例)行脑室外引流的效果。结果硬通道技术脑室外引流与传统方法脑室外引流两组病例:引流时间上,前者较后者引流时间长,而脑脊液漏发生率(P<0.01)及颅内感染率低(P<0.05)。手术时间上,前者较后者明显缩短。结论硬通道技术脑室外引流手术简单、快捷,能于床旁施行,创伤小,能颅骨自锁,封闭性好,脑脊液不易渗漏。硬通道技术脑室外引流优于传统的颅骨钻孔脑室外引流。     

左肝外叶切除治疗左肝内胆管结石79例疗效分析

日的探讨左肝外叶切除术治疗左肝内胆管结石的效果．方法对近4a来昆明医学院第二附属医院肝胆外二科收住的79例左肝内胆管结石行左肝外叶切除术病例进行回顾性分析．结果单纯左肝外叶切除术15例,左肝外叶切除加胆道切开术48例,肝叶切除加胆道探查术后胆肠吻合术16例．本组无手术死亡．经随访,72例治疗效果优良．结论左肝外叶切除是治疗左肝内胆管结石的理想而有效的手术方式．     

Sonic Hedgehog信号在小脑早期发育中的作用

目的:研究Sonic Hedgehog(Shh)信号在小脑发育早期对小脑外颗粒层的颗粒细胞前体(GCP)细胞增殖迁移的影响?方法:通过石蜡切片免疫荧光观察小脑外颗粒层GCP细胞增殖情况;建立体外培养小鼠脑片系统,检测小脑外颗粒层GCP细胞的增殖和动态迁移情况?结果:小鼠出生后7 d小脑外颗粒层增殖的GCP细胞最多;Shh信号通路促进小脑外颗粒层GCP细胞的增殖,用环巴胺(cyclopamine,CPA)抑制信号通路后小脑外颗粒层GCP细胞增殖受到抑制,但迁移不受影响?结论:Shh信号通路是促进小脑外颗粒层细胞增殖及有丝分裂必不可少的一部分,且它的作用只部分局限于外颗粒层?     

取自体颅骨外板修补颅骨缺损

目的:探讨取自体颅骨外板修补颅骨缺损的临床应用.方法:采用自制颅骨外板取材工具,根据缺损面积大小,取自体颅骨外板修补颅骨缺损. 结果:通过自制颅骨外板取材工具,取自体颅骨外板安全、可靠,对20例不同面积的颅骨缺损修补后,其组织相容性、稳定性、安全性均良好,未出现并发症,而且具有美观、经济实惠等优点.结论:取自体颅骨外板修补颅骨缺损效果良好,值得推广.     

微型外固定支架治疗掌、指骨骨折

目的探讨微型外固定支架用于治疗掌、指骨骨折的临床疗效。方法总结该院2004年4月至2007年4月用微型外固定支架治疗42例掌、指骨骨折病例,分析治疗效果。结果42例患者骨折全部愈合,大部分患者于术后4~6周拆除外固定支架。结论应用微型外固定支架治疗掌、指骨骨折具有使用方便、固定可靠、可进行早期功能锻炼、疗效满意等优点。     

30例外耳道胆脂瘤的临床分析

目的探讨外耳道胆脂瘤的临床特点及治疗方法。方法采用回顾性研究方法分析30例外耳道胆脂瘤的临床诊疗情况。结果本组30例病例均有不同程度的骨性外耳道扩大,按Holter分期,Ⅰ期15例,Ⅱ期10例,Ⅲ期5例。I期行外耳道胆脂瘤清除术,Ⅱ期伴外耳道狭窄或闭锁,行外耳道胆脂瘤清除术＋外耳道成形术。Ⅲ期侵及中耳,行改良乳突根治术。本组根据病变范围采用耳内镜或显微镜下清除病灶,术后随访0．5～1年,30例术后无复发,2例发生外耳道狭窄。结论根据有无感染及病变范围采取不同的麻醉及手术方法,早期彻底清除病灶是治疗本病、预防并发症的根本方法。     

从针灸、推拿的起源谈中医外治法的发展

目的:追寻针灸、推拿疗法的起源,探求中医外治法的机理,使人们真正认识和了解中医外治法的本质,从而为中医外治法的发展开阔思路.方法:通过对人类社会发展历史的推理分析,揭示外治法治疗疾病的基本原理.结论:人类最早的外治法工具就是自己的双手;只要给穴位或疾病的反应点一个刺激,通过经络、腧穴的良性调节作用,就能治疗疾病.这一结论为今后发明新的外治疗法奠定了基础.     

内扎外切加缝合术治疗环状混合痔的临床观察

目的:观察用内扎外切加缝合术治疗环状混合痔的效果。方法:对120例环状混合痔用二种术式治疗。对照组60例,采用分段内扎外切术:治疗组60例,采用内扎外切加缝合术,对两组进行疗效对比观察。结果:治疗组病人疗效确切,伤口愈合快,并发症少。结论:用内扎外切加缝合术治疗环状混合痔是一次性根治环状混合痔的良好术式。