神经管畸形患儿还原叶酸载体基因和叶酸之间交互作用

目的 探讨神经管畸形(neural tube defects,NTDs)患儿还原叶酸载体基因(reduced folate carrier gene,RFCI）A80G多态性与母亲孕早期未增补叶酸之间的关联性,为寻找NTDs危险因素的遗传易感标志物提供流行病学依据。方法采用限制性片段长度多态性-聚合酶链反应方法,对104个NTDs患儿及其母亲和100名正常儿童及其母亲的外周血DNA进行RFCI第80位单核苷酸多态性检测,通过病例对照研究,调查了后代RFCI A80G基因型与母亲孕期前后增补叶酸之间的基因环境交互作用。结果 RFCI GG基因型的子代发生NTDs危险高于AA基因型子代(OR=2．56,95％CI=1．04～6．36);母亲孕早期不增补叶酸,生育NTDs的危险高于增补叶酸的母亲(OR=7．69,95％CI=2．86～21．75);母亲孕期未增补叶酸,其子代GG基因型,发生NTDs的危险是AA基因型的3．30倍(95％CI=1．15～9．65);在叶酸和RFCI基因交互作用研究中,母亲未增补叶酸和子代GG基因型同时存在,发生NTDs的危险是8．80(95％CI=2．86～29．82),交互作用系数为1．45,,结论 在中国人群中,RFCI GG基因型可能是NTDs发生的遗传易感基因之一,子代RFCI GG基因型与母亲孕期叶酸缺乏之间存在交互作用,可能增加NTDs的发病危险。     

Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region

Approximately 5% of children with neural tube defects (NTDs) have a congenital heart defect and/or cleft lip and palate. The cause of isolated meningomyelocele, congenital heart defects, or cleft lip and palate has been largely thought to be multifactorial. However, chromosomal, teratogenic, and single gene causes of combinations of NTDs with congenital heart defects and/or cleft lip and palate have been reported. We report on 3 patients with meningomyelocele, congenital heart defects, and 22q11 deletions. Two of the children had the clinical diagnosis of velo-cardio-facial syndrome (VCFS); both also have bifid uvula. The third child had DiGeorge sequence (DGS). The association of NTDs with 22q11 deletions has not been reported previously. An accurate diagnosis of the 22q11 deletions is critical as this micro-deletion and its associated clinical problems is transmitted as an autosomal dominant trait due to the inheritance of the deletion-bearing chromosome. We recommend that all children with NTDs and congenital heart defects, with or without cleft palate, have cytogenetic and molecular studies performed to detect 22q11 deletions. © 1994 Wiley-Liss, Inc.     

Screening for coeliac disease as a possible maternal risk factor for neural tube defect

Coeliac disease is an important cause of malabsorption, particularly of folic acid, in adults. We investigated the possibility that it might be a maternal risk factor for neural tube defect (NTD)-associated pregnancy by screening affected mothers using serum endomysial antibody (EmA) which has high sensitivity and specificity for coeliac disease. One (1.6%) of 60 patients was EmA positive and had a diagnosis of coeliac disease confirmed by the finding of villous atrophy on jejunal biopsy. In conclusion, the majority of NTD-associated pregnancies are not associated with maternal coeliac disease and our study is additional evidence that abnormalities of folic acid metabolism rather than absorption are the most important risk factors for NTD. Further studies are needed to determine whether the coeliac disease prevalence among women with NTD-affected pregnancy is higher than that of the general population.     

引导管芯在更换经口气管导管的应用

目的 观察应用引导管芯做引导，更换经口气管内导管的临床效果。方法 随机选择26例已完成气管内插管的病人，将引导管芯插入气管导管内至隆突水平，并拔出气管导管；将欲更换的气管导管套在引导管芯外，在管芯引导下将气管导管插入气管内，完成换置；结果 全部病例均顺利完成更换导管，换管过程中病人氧合良好，术后未发生与更换导管相关并发症；结论 应用引导管芯更换气管内导管，方法安全，简便易行，可替代传统换管方法。     

Amniotic fluid folate, vitamin B12 and transcobalamins in neural tube defects

Levels of folate, vitamin B12, the vitamin B12 binding proteins, apotranscobalamin I, II and III (TC I, II and III) and the unsaturated vitamin B12 binding capacity (UBBC) were measured in mid-trimester amniotic fluids from normal pregnancies, and from those where the fetus had open spina bifida, anencephaly or omphalocoele, and where the fetus was normal but the mother had had a previous neural tube defect pregnancy. At 15-19 weeks' gestation, vitamin B12 levels were low in the fluids of all the types of abnormal fetuses, and also of normal fetuses where there had been a previous NTD sib. In contradistinction, TC I, II and III and UBBC levels were generally abnormally high in all these groups. Low vitamin B12 levels in the face of high carrier protein levels suggest deranged vitamin B12 production or transport. Since these abnormalities are present in fluids from normal sibs of NTD individuals as well as from those with midline lesions, an inherited defect is implied. We propose that at least part of the genetic predisposition to NTD, and possibly other midline defects, could reside in an abnormality connected with vitamin B12 production, transport or metabolism, and a mechanism is suggested.     

bFGF和EGF对胚胎神经干细胞分化为神经元及神经胶质细胞的影响

目的：观察碱性成纤维生长因子（bFGF）和表皮生长因子（EGF）对体外培养胚胎神经管神经干细胞生长和分化的影响。方法：从孕12天大鼠胚胎神经管分离神经干细胞，进行原代培养，分为bFGF组、EGF组、bFGF＋EGF组及对照组：培养过程中观察干细胞的生长，培养2小时做nestin染色鉴定神经干细胞，培养第5天用免疫组化方法检测培养细胞神经元特异烯醇化酶（NSE）和胶质纤维酸性蛋白（GFAP）的表达，以观察神经干细胞分化为神经元及神经胶质细胞的状况。结果：取材细胞大部分为nestin免疫阳性细胞；各实验组均可促进培养细胞的生长和分 化。免疫组化中，EGF使神经干细胞增殖成团，增加GFAP的表达（P＜0．01）；bFGF能明显增加NSE及GFAP的表达（P＜0．01）；两种因子联合应用，神经元和神经胶质细胞均比对照组增多（P＜0．01）。结论：EGF和bFGF两类生长因子均能促进胚胎神经干细胞的生长，在分化方面，EGF倾向于诱导干细胞增并向着胶质细胞分化，bFGF则诱导干细胞分 成更多的神经元。     

电视腹腔镜胆囊切除术胆漏的预防和处理

目的：降低电视腹腔镜胆囊切除术（LC）胆漏的发生率,提高治愈率,防止胆漏对病人的危害。促进愈合。方法：分析1991年12月－1998年12月我院开展LC4000例,出现胆漏29例的原因,用线扎代替钛夹处理胆囊管和胆囊血管,简化了胆囊三角的过多解剖;术中针对性的置放引流管防止胆汁性腹膜炎;特殊情况的胆囊作特殊处理。结果：拓宽了LC的适应范围,大大减少了手术中胆管的损伤、出血。发生胆漏的病人中有41％（12／29）困术中置管引流而未出现胆汁性腹膜炎,并很快康复。术后B超动态观察胆囊窝积液情况,及时引流,胆漏多能自愈。结论：熟练的操作技巧能避免手术损伤,认真线扎处理胆囊管和胆囊血管并针对性置放引流管,能有效防止胆漏和胆汁性腹膜炎;及时发现、及时处理是减少胆漏危害的关键。     

脑室出血的治疗

目的探讨脑室出血的治疗方法。方法选择原发性脑室出血19例,继发性脑室出血21例,其原发出血灶血肿量严格限制在30ml以下,全部病人均采用双侧侧脑室双腔管引流,尿激酶脑室灌注及间断腰穿放液。结果死亡7例,死亡率17．5％,明显低于内科治疗80％的死亡率。结论双腔管双侧脑室引流尿激酶脑室灌注和间断腰穿放液等为目前治疗脑室出血的较为有效的方法。     

改质炉高温炉管运行损伤及剩余寿命分析

对高温运行70000h至90000h改质炉炉管进行试验研究及材料损伤分析,结果表明,炉管的材料性能已严重劣化（脆化）,炉管的内外壁已有微小裂纹萌生,测定了炉管材料在950℃、各种应力水平下的断裂时间,根据时间-温度参数L-M公式,推测炉管的剩余寿命为8510h。