多发性硬化干扰素β治疗效果初步观察

目的初步探讨干扰素(IFN-β)用于中国早期多发性硬化(MS)的疗效。方法对6例MS患者采用IFN-β治疗,并随访4~27个月。根据扩展的功能缺损状况量表评分(EDSS)、磁共振(MRI)T2加权病灶演变及持续缓解的时间,综合评价IFN-β的治疗疗效。结果6例患者随访期EDSS评分明显改善,T2W病灶负荷明显缩小,无复发者。结论IFN-β用于中国MS患者能改善其神经功能障碍,并减少复发。     

Goosecoid-like (Gscl), a candidate gene for velocardiofacial syndrome, is not essential for normal mouse development

Velocardiofacial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of abnormalities, including conotruncal heart defects, velopharyngeal insufficiency, craniofacial anomalies and learning disabilities. In addition, numerous other clinical features have been described, including frequent psychiatric illness. Hemizygosity for a 1.5-3 Mb region of chromosome 22q11 has been detected in >80% of VCFS/DGS patients. It is thought that a developmental field defect is responsible for many of the abnormalities seen in these patients and that the defect occurs due to reduced levels of a gene product active in early embryonic development. Goosecoid-like ( GSCL ) is a homeobox gene which is present in the VCFS/DGS commonly deleted region. The mouse homolog, Gscl, is expressed in mouse embryos as early as E8.5. Gscl is related to Goosecoid ( Gsc ), a gene required for proper craniofacial development in mice. GSCL has been considered an excellent candidate for contributing to the developmental defects in VCFS/DGS patients. To investigate the role of Goosecoid-like in VCFS/DGS etiology, we disrupted the Gscl gene in mouse embryonic stem cells and produced mice that transmit the disrupted allele. Mice that are homozygous for the disrupted allele appear to be normal and they do not exhibit any of the anatomical abnormalities seen in VCFS/DGS patients. RNA in situ hybridization to mouse embryo sections revealed that Gscl is expressed at E8.5 in the rostral region of the foregut and at E11.5 and E12.5 in the developing brain, in the pons region and in the choroid plexus of the fourth ventricle. Although the gene inactivation experiments indicate that haploinsufficiency for GSCL is unlikely to be the sole cause of the developmental field defect thought to be responsible for many of the abnormalities in VCFS/DGS patients, its localized expression during development could suggest that hemizygosity for GSCL, in combination with hemizygosity for other genes in 22q11, contributes to some of the developmental defects as well as the behavioral anomalies seen in these patients. The mice generated in this study should help in evaluating these possibilities.      

犬颈总动脉和股静脉输注异丙酚至脑电静息对循环和呼吸的影响

目的比较犬颈总动脉和股静脉持续输注异丙酚至脑电静息时循环、呼吸变化及异丙酚的用量。方法杂种犬8条,通过颈总动脉或股静脉持续输注异丙酚直至麻醉深度指数(CSI)等于零,并维持CSI在0-5之间波动持续60min停药。记录意识消失、恢复时间及异丙酚用量,观察犬血流动力学和呼吸的变化。结果达脑电静息所用时间和停药后苏醒时间,颈总动脉给药明显快于静脉给药(P<0.05)。颈总动脉和股静脉给药在意识消失时、CSI=0-5持续10s、30min和60min时异丙酚的用量分别为(76.1±24.3)mg和(146.9±48.3)mg(P=0.000)、(221.3±47.4)mg和(353.3±89.2)mg(P=0.000)、(474.9±122.5)mg和(845.8±206.8)mg(P=0.000)以及(721.3±204.0)mg和(1401.4±410.4)mg(P=0.000)。在脑电静息各时点,颈总动脉给药对平均动脉压和呼吸的影响与静脉给药比较统计学差异非常显著,动脉给药血流动力学和呼吸指标变化更平稳。结论异丙酚颈动脉麻醉至脑电静息比静脉麻醉用药量少,对循环、呼吸影响小。     

胎儿期肾盂积水出生后超声检查的变化

目的利用超声技术评价产前发现的胎儿肾积水在出生后的转归情况,指导临床适时进行干预措施的实施.方法对孕期发现肾盂积水的48例新生儿的87只肾,在生后3天至24个月期间定期进行超声检查,采用二维超声和彩色多普勒技术测定肾盂、肾盏、输尿管及肾血管阻力指数的变化.结果肾盂积水程度＜15mm且≥10mm的68只肾中,40只肾在生后24个月内积水程度减轻或消失.肾盂积水程度≥15mm且＜20mm的13只肾中4只程度减轻,1只经手术解除梗阻.肾盂积水程度≥20mm的6只肾中,5只经手术解除梗阻.肾血管阻力指数RI≥0.7者肾盂积水程度均≥15mm.结论孕期发现的肾盂积水出生后的转归与肾盂积水程度有关,超声技术可安全、方便、准确地反映其动态变化.     

超声诊断胎儿囊状淋巴管瘤1例

孕妇 23岁.第1胎孕5月超声检查,超声检查所见:宫内孕单胎,胎儿头颅光环完整,脊柱排列规整,胎心搏动良好,双顶径5.1cm,胎儿头颈部及胸腹部可见数个囊性包块,壁薄 ,较大者约为9.8cm×5.4cm,内有分隔,胎儿腹腔可见液性暗区,最深处为 2.3cm,可见肠管漂浮(图1),超声诊断:①宫内孕单活胎;②胎儿畸形:囊状淋巴管瘤合并腹水.次日引产,病理证实为淋巴管瘤.     

Molecular characterization of hepatitis B virus surface antigen mutants in Singapore patients with hepatocellular carcinoma and hepatitis B virus carriers negative for HBsAg but positive for anti‐HBs and anti‐HBc

Background and Aims : Mutations on the a‐determinant of hepatitis B virus surface antigen (HBsAg), capable of escaping detection and vaccination, are identified in HBsAg‐positive/anti‐HBs‐positive vaccinated infants. We studied the prevalence of these mutants in HBsAg‐negative/anti‐HBc‐positive chronic HBV carriers and patients with hepatocellular carcinoma (HCC). Methods : DNA sequence coding for the antigenic a‐determinant of HBsAg was amplified from either HCC genomic DNA or serum samples of the selected patients and sequenced. The replicative mutant genomes were reconstituted in vitro and their reactivity to commercial kits measured. Results : Mutations within and/or outside the a‐determinant were identified in patients seronegative for HBsAg. They were then reconstituted in vitro and transiently transfected into HepG2 cells. Culture medium containing secreted HBV viral particles was collected and assayed for their binding to commercial kits. Drastic decrease of reactivity to these kits was seen with most of the identified mutations, including those located outside the a‐determinant. Conclusion : The existence of a more complex antigenic structure of HBsAg is indicated by the decreased reactivity to detection of mutations, some of which are outside the a‐determinant, escape vaccination and may persist in seronegative patients. The high proportion of HBsAg mutants that are integrated in HCC genomes suggests a role of these mutants in hepatocarcinogenesis, possibly leading to mutant HBV‐related HCC. © 2002 Blackwell Publishing Asia Pty Ltd     

Primary study on correlation between β2-adrenoceptor haplotypes and asthma in children of Han nationality in Chongqing

Objective: To investigate the correlation between β2-adrenergic receptors (β2-AR) haplotypes and asthma of Hah nationality children in Chongqing region. Methods: PCR and restriction fragment analysis were used to study 16, 27loci of the β2-AR polymorphism in 76 unrelated asthmatic children and in 100 healthy children and adults of Han nationality as control. A statistical analysis of the correlation between glycine (Gly)16 allele, Gly16/glutamine (Gln)27 haplotype and asthmatic clinical status was carried out. Results: There was no significant increase of the frequency of Gly16 and Gln27 allele in the asthmatic group as compared with the control group (P＞0.05). There was a significant increase of the frequency of Gly16 allele and Gly16/Gln27 haplotype in severe asthmatic cases than in the mild and moderate asthmatic ones (P＜0.01, 0.05). Conclusion: It is considered that asthma is not caused by Gly and Gln alleles ofβ2-AR polymorphisms. Glyl6 allele and Gly16/Gln27 haplotype are possibly correlated with the severity of the clinical manifestations in the children of Han nationality in Chongqing.     

儿童肾恶性横纹肌样瘤CT表现

目的 观察儿童肾恶性横纹肌样瘤（MRTK）的CT表现。方法 回顾性分析经病理证实的19例MRTK患儿,观察其CT表现。结果 19例MRTK中,11例以血尿为主诉就诊;病变位于左肾10例、右肾9例,均为单发病灶,位置多邻近肾门,最大径4.53~15.32 cm,平均（8.42±2.77） cm;其中11例呈类圆形,8例为不规则形;12例边缘呈分叶状,7例边缘基本光滑;13例边界不清,6例边界清楚;CT平扫呈混杂密度肿块,增强后肿瘤实性部分强化程度低于正常肾实质,内见多发坏死囊变;其中14例见较明显的偏心性囊变,囊实性交界区多模糊不清;12例瘤体内见出血,5例见细线状或砂砾状钙化;10例肾周包膜下积液/血,6例肾包膜增厚;9例侵犯肾盂或肾窦。术后病理提示9例侵犯肾包膜,4例淋巴结转移;免疫组织化学染色19例整合酶相互作用蛋白1（INI-1）均（－）。结论 儿童MRTK的CT表现具有一定特征性,有助于诊断。     

超声引导下臂丛神经阻滞在上肢手术中的应用效果分析

目的 探究超声引导下臂丛神经阻滞在上肢手术中的应用效果.方法 方便选取2014年3月-2015年3月期间于该院接受单侧上肢手术的96例患者纳入该次研究,随机平均分为传统解剖组和超声引导组,传统解剖组采用传统的盲探穿刺法,触及到前中斜角肌间沟再进针寻找异感.超声引导组在超声引导下,阻滞针与带上无菌手套的探头平行,并且处于同一平面,整个过程都能清楚看到穿刺针的移动,等确定位置后,进行臂丛神经阻滞,两组患者均使用神经刺激器和局部麻醉药(0.4%罗哌卡因)30 mL,观察两组患者在手术中的麻醉效果、阻滞效果及并发症情况.结果 经过对96例在该院接受单侧上肢手术的患者进行传统解剖和超声引导的神经阻滞对比,超声引导组麻醉效果的优良率95.93%显著高于传统解剖组73.46%,超声引导组发生止血带反应的几率2.03%明显低于传统解剖组17.34%、血管神经损伤率10.41%明显低于传统组32.64%、寒战或惊厥发生率9.18%明显低于传统组34.68%,差异有统计学意义(P<0.05).结论 在神经刺激器的作用下,超声引导下臂丛神经阻滞可以缩短麻醉时间,提高麻醉效果,延长麻醉作用的时间,减少并发症的发生.