Connexin26 gene ( GJB2): prevalence of mutations in the Chinese population

The connexin26 gene ( GJB2) has been shown to be responsible for DFNB1 and DFNA3 (Autosomal Recessive Hereditary Nonsyndromic Deafness Locus 1 and Autosomal Dominant Hereditary Nonsyndromic Deafness Locus 3). Two hundred ten independently ascertained Chinese probands with nonsyndromic hearing loss (NSHL) were evaluated for mutations in GJB2, including 43 probands from families with more than one sib with NSHL, likely indicating dominant inheritance, and sporadic cases of NSHL, compatible with recessive inheritance. Of the 210 probands, 43 (20%) were homozygous or heterozygous for mutations in GJB2. Four different mutations were identified: 35delG, 109G-A, 235delC, and 299-300delAT. It was confirmed that GJB2 mutations are an important cause of hearing loss in this population. Of these four mutations, 235delC was the most prevalent at 93%; yet the 35delG mutation, which is the most common GJB2 mutation in Caucasian subjects (Europeans and Americans), was found in low frequency in the present study. It appears from our limited data and reports from other East Asians that 235delC is the most prevalent GJB2 mutation in these populations. GJB2 mutations are consistent with ethnic predilections.     

瞬目反射、脑干听觉诱发电位、经颅多普勒超声对椎基底动脉供血不足的诊断价值

目的：观察瞬目反射（ＢＲ）、脑干听觉诱发电位（ＢＡＥＰ）、经颅多普勒超声（ＴＣＤ）对椎基底动脉供血不足（ＶＢＩ）的诊断意义。方法：对４１例已经临床确诊的ＶＢＩ病人在间歇期进行ＢＲ、ＢＡＥＰ及ＴＣＤ检查。结果：ＴＣＤ、ＢＲ、ＢＡＥＰ异常率分别为８３％、８０％、６８％。ＢＲ提示脑桥损害１例、延髓损害１５例、广泛性脑干损害１７例；ＢＡＥＰ发现内耳听力减退２０例、脑干病变１３例；ＴＣＤ发现多血管流速异常１４例、一支流速改变１６例，有或伴有血管张力异常１３例。结论：由于ＢＲ、ＢＡＥＰ反射路径不同，检测结果不尽一致。联合检查有助于对病损部位进行定位。ＴＣＤ则有助于定性诊断     

Molecular mechanisms underlying IFN-{gamma}-mediated tumor growth inhibition induced during tumor growth inhibition induced during tumor immunotherapy with rIL-12

The present studnt Investigates the molecular by which IFN-produced as a result of in vitroIL-12 addministration exertsits anty-tumor,rIL-12 was administered three or five times intomice bearing CDA1M fibrosarcoma, OV-HM ovarian carcinoma orMCH-1-A1 fibosarcoma. This regimen induced complete regressionof CSA1M and OV-HM tumors but only transient growth inhibitionof MCH-1-A1 tumors. The anty-tumor effects of Il-12 were associatatedwith enhanced induction of IFN-becouse these effects were abrogatedby pretreatment of hosts with anti-IFN- antibody.Exposure inin vitro of the three types of tumor cells to rIFN- resultedin moderate to potent inhibition of tumor cell growth.IFNstimulatedthe expression of mRNAs for an inducible type of NO synthasa(INOS)in CSA1M cells and indoleamine 2,3-dioxygenasa (IDO),an enzyme capable of degrading tryptophan, in OV-HM cells ,but induced only marginal levels of these mRNAs in MCH-I-ALcells. In association withiNOS gene expression, INF--stimulatedCSA1M cells produced a large amount of NO which functioned toinhibit their own growth in vitro. Although OV-HM and MCH-1-A1cells did not produce NO, they also exhibited NO susceptibility.Whereasthe tumor masses from IL-12-treated CSA1M-bearing mice inducedhigher levels of INOS (for CSA1M) or IDO and iNOS (for OV-HM)mRNAs,the MCH-1-A1 tumor mass expressed lower levels of iNOS mRNAalone.Moreover, massive infiltration of CD4⁺and CD8⁺ T cellsand Mac-1⁺ cells was seen only in the CSA1M and OV-HM tumors.Thus, these results indicate that IFN- produced after IL-12treatment induces the expression of various genes with potentialto modulate tumor cells and growth by acting directly on tumorecells or stimulating tumor-infiltrating lymphold cells and thatthe effectiveness of IL12 therapy is assoiated with the operation if these mechanisms.     

原发性肺癌患者的血液流变学研究

观察了原发性肺癌患者血液流变学的变化,采用血液比粘度计检测正常组(42例),肺癌组(58例),慢性阻塞性肺病(COPD)组(76例)患者的血沉降率、血球压积、全血比粘度、血浆比粘度及全血还原比粘度。结果:1 COPD组血球压积、低及中切变率时全血比粘度较正常组、肺癌组显著升高(P<0.05).2 肺癌组血沉降率较正常组、COPD组显著升高(P<0.05).3 肺癌组的血球压积、低及中切变率时的全血比粘度较正常组无显著性差异(P>0.05).4 3组高切变率时全血比粘度、全血还原比粘度与血浆比粘度无显著性差异(P>0.05).5正常组与COPD组血沉降率无显著性差异(P>0.05)。结论:肺癌患者血沉降率增高提示其红细胞聚集力增强,而其血粘度无明显改变,可能与红细胞压积无明显改变有关。COPD患者血球压积、血粘度明显增高,可能与长期缺氧有关。     

雌性大鼠下丘脑5-羟色胺1A和2A受体亚型的定位分布

本研究应用免疫细胞化学技术观察了雌性成年SD大鼠下丘脑内5-HT1A受体亚型(5-HT1AR)和5-HT2AR免疫阳性结构的分布。结果显示:5-HT1AR免疫阳性神经元在视前区大细胞核、视前室周核、视上核和下丘脑外侧前核等核团内密集分布。在内侧视前核、外侧视前区、下丘脑室周核、下丘脑外侧区、背内侧核、腹内侧核、结节核、结节乳头体核、乳头体内侧核和乳头体外侧核等结构内也有较多的分布;而在正中视前核、视交叉上核、下丘脑室旁核、下丘脑背侧核、弓状核、乳头体上核和乳头体前核等部位有散在的分布。与5-HT1AR不同,5-HT2AR免疫阳性反应产物主要见于纤维和终末,阳性胞体少且染色淡。5-HT2AR阳性胞体见于下丘脑室旁核、视上核、腹内侧核、结节核、视前内侧区、外侧区、外侧前核、下丘脑背内侧核等处。另外,在视前区前内侧视前核、视交叉上核背侧和外侧可见围绕血管分布、密集成团簇状、带有大小不同膨体的阳性神经纤维缠结。本文结果提示5-HT1AR阳性结构广泛地分布于大鼠下丘脑,而5-HT2AR在下丘脑分布较为局限。二者不同的分布特点,提示它们可能介导5-HT在下丘脑的不同生理功能。     

Effect of recombinant interleukin-4 on immunoglobulin synthesis in a culture of mononuclear cells isolated from human peripheral blood

The effect of recombinant interleukin-4 on the synthesis of immunoglobulins is studied in a culture of mononuclear cells isolated from peripheral blood of healthy donors and patients with hay fever. It is shown that interleukin-4 stimulates production of IgE in cells of healthy donors, but not of hay fever patients, and does not affect the synthesis of other isotypes in either group. At the same time, increased cell proliferation under the influence of interleukin-4 was observed in cultured cells of both healthy donors and patients. Translated fromByulleten' Eksperimental'noi Biologii i Meditsiny, Vol. 118, N ^o 10, pp. 426–428, October, 1994 Institute of Pulmonology, Ministry of Health, Moscow. (Presented by D. S. Sarkisov, Member of the Russian Academy of Medical Sciences)     

Effect of pulsed hydrodynamic influences on blood cells in vitro and in vivo

(Presented by Academician of the Academy of Medical Sciences of the USSR A. N. Klimov.) Translated from Byulleten' Éksperimental'noi i Biologii i Meditsiny, Vol. 110, No. 12, pp. 604–606, December, 1990.     

中枢神经系统感染患者血清NSE和sICAM-1的改变

目的 :探讨中枢神经系统感染患者血清中NSE和sICAM 1水平的改变。方法 :采用ELISA法检测了 30例CNS感染的患者和 2 0例正常健康人血清中的NSE和sICAM 1水平。结果 :在CNS感染患者血清中NSE( 12 5 .6 8± 14 .38μg/L)和sICAM 1( 4 48.94± 96 .70μg/L)显著高于正常对照组的NSE( 6 .6 6± 1.2 5 μg/L)和sICAM 1( 2 91.78± 39.18μg/L) ,P <0 .0 1。在CNS感染各组中病毒性脑炎患者的NSE亦显著高于其他各组 ;sICAM 1在CNS感染各组间无显著性差异 ,P >0 .0 5。结论 :提示NSE和ICAM 1可作为CNS损害和感染的监测指标