瞬目反射及脑干听觉诱发电位对脑干梗死疗效的评价

目的探讨瞬目反射和脑干听觉诱发电位对脑干梗死患者疗效的评价作用。方法40例经临床症状、体征定位于脑干髓内并经头部MRI检查明确诊断的脑干梗死患者(脑桥梗死31例、中脑梗死4例和延髓梗死5例),分别计算治疗前后瞬目反射各成分的平均潜伏期;观察脑干听觉诱发电位波形及各波潜伏期、峰间期的变化。结果经治疗后40例患者临床症状及体征均有不同程度改善,治疗前后瞬目反射各成分平均潜伏期之间差异无统计学意义(P>0.05);3例脑桥梗死患者R1波恢复正常,临床基本痊愈。治疗前后脑干听觉诱发电位各波潜伏期及峰间期比较,差异亦无统计学意义(P>0.05);治疗后中脑梗死及脑桥梗死患者各有2例恢复正常,临床症状明显好转。结论瞬目反射与脑干听觉诱发电位均能敏感地反映脑干功能的变化,与临床表现具有一致性,但在发病15d内大部分病例的电生理活动不能恢复正常。     

Effect of AVP on brain edema following traumatic brain injury

Objective: To evaluate plasma arginine vasopressin (AVP) level in patients with traumatic brain injury and investigate the role of AVP in the process of brain edema. Methods: A total of 30 patients with traumatic brain injury were involved in our study. They were divided into two groups by Glasgow Coma Scale: severe traumatic brain injury group (STBI, GCS≤8) and moderate traumatic brain injury group ( MTBI, GCS >8). Samples of venous blood were collected in the morning at rest from 15 healthy volunteers (control group) and within 24 h after traumatic brain injury from these patients for AVP determinations by radioimmunoassay. The severity and duration of the brain edema were estimated by head CT scan. Results: plasma AVP levels (ng/L) were (mean±SD): control, 3. 06±1. 49; MTBI, 38. 12±7. 25; and STBI, 66. 61±17. 10. The plasma level of AVP was significantly increased within 24 h after traumatic brain injury and followed by the reduction of GCS, suggesting the deterioration of cerebral injury (P<0. 01). And the AVP level was correlated with the severity (STBI r =0.919, P < 0.01; MTBI r = 0.724, P < 0.01) and the duration of brain edema (STBI r = 0. 790, P < 0. 01; MTBI r = 0. 712, P<0.01). Conclusions: The plasma AVP level is closely associated with the severity of traumatic brain injury. AVP may play an important role in pathogenesis of brain edema after traumatic brain injury.     

选择性髂内动脉结扎与栓塞对盆腔血供的影响

目的：旨在探讨选择性髂内动脉结扎与栓塞两种方法对盆腔血供的影响。方法：将两组犬在膀胱上动脉分支以下之髂内动脉分别行结扎与栓塞，对比观察两组膀胱创面出血、盆腔动脉造影及盆腔脏器组织学变化，以确定其盆腔脏器的血供情况。结果：①结扎组膀胱创面出血明显大于栓塞组；②结扎组髂内动脉侧支循环建立时间明显早于且数目多于栓塞组；③两组盆腔脏器均未见缺血坏死。结论：栓塞组阻断髂内动脉侧支循环的数目多于结扎组，故对盆腔血供的影响大于结扎组。避免髂内动脉阻断范围过广可减少盆腔脏器缺血坏死的机会。     

核黄素等抗甲基苄基亚硝胺的致细胞突变作用

采用ＣＨＯ细胞ＨＧＰＲＴ位点突变测定系统观察了核黄素、尼克酰胺和锌等微量营养素对甲基苄基亚硝胺（ＭＢＮＡ）致细胞突变作用的影响。结果表明，在ＲＰＭＩ１６４０培养基中添加核黄素（２．６～１３．０μｍｏｌ／Ｌ）或尼克酰胺（４０～１２０μｍｏｌ／Ｌ）可显著抑制ＭＢＮＡ的致细胞突变作用。联合应用核黄素、尼克酰胺和锌效果更佳。提示：核黄素等微量营养素可能具有阻止细胞癌变的作用，为应用微量营养素干预治疗癌变过程提供了一定的理论依据。     

林县冬贮菜中亚硝酸盐及维生素C的含量分析

对林县食管癌高发区两种冬贮菜中亚硝酸盐和维生素C的动态分析,表明亚硝酸盐含量随蔬菜冬贮时间延长而增加,维生素C含量则逐渐降低,两者成负相关。提示蔬菜冬贮过程中应尽量减少维生素C的破坏。     

石棉相关肿瘤p53基因突变的免疫组化及PCR—SSCP研究

为了分析石棉相关肿瘤ｐ５３基因的突变特点，对石蜡包埋的石棉相关肿瘤ｐ５３基因突变体蛋白的表达进行了免疫组化观察，提取染色体ＤＮＡ，对ｐ５３基因的第５、７、８外显子进行ＰＣＲ－ＳＳＣＰ及测序分析。免疫组化观察发现：在分析的１０例病例中有５例阳性。ＰＣＲ－ＳＳＣＰ分析发现７例（８处）发生突变，其中４处集中在第８外显子上。５例腺癌中有４例发生ｐ５３基因突变。测序发现热点区突变。提示：石棉相关肿瘤ｐ５３基因突变率高。     

冠心病患者血清甲状腺激素变化及临床意义

观察３０例正常对照组１４例冠心病心衰患者，２０例冠心病心功能代偿期患者血清Ｔ３，Ｔ４，ｒＴ３，ＦＴ３，ＦＴ４，ＴＳＨ的变化，结果：两组患者与对照组比较，均有Ｔ３下降ｒＴ３升高，尤以冠心病心衰患者表现更明显，同时伴Ｔ４及ＦＴ３下降，有显著性差异，３组之间ＦＴ４比较无差异。结果提示：测定冠心病患者血清甲状腺激素水平，有助于了解病情的严重程度及判断其预后。     

X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.

A three generation family with X linked myotubular myopathy (MTM1) was studied with several polymorphic markers from the distal long arm of the X chromosome. A recombination between the disease gene and four markers (loci DXS52, DXS134, DXS15, F8C) from the Xq28 cluster was detected. A new polymorphic marker (U6.2) defining the locus DXS304 in the Xq27-28 region proximal to the Xq28 cluster did not show any recombination with MTM1. These results suggest the following order of loci in distal Xq: cen-DXS42-DXS105-(DXS304, MTM1)-(DXS52, DXS134, DXS15, F8C)-tel.     

Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family

Brachydactyly type A (BDA) is defined as short middle phalanges of the affected digits and is subdivided into four types (BDA1‐4). To date, the molecular cause is unknown. However, there is some evidence that pathogenic variants of HOXD13 could be associated with BDA3 and BDA4. Here, we report a Chinese autosomal dominant BDA3 pedigree with a novel HOXD13 mutation. The affected individuals presented with an obviously shorter fifth middle phalanx. The radial side of the middle phalanx was shorter than the ulnar side, and the terminal phalanx of the fifth finger inclined radially and formed classical clinodactyly. Interestingly, the index finger was normal. The initial diagnosis was BDA3. However, the distal third and fourth middle phalanges were also slightly affected, resulting in mild radial clinodactyly. Both feet showed shortening of the middle phalanges, which were fused to the distal phalanges of the second to the fifth toes, as reported in BDA4. Therefore, this pedigree had combined BDA3 and atypical BDA4. By direct sequencing, a 13 bp deletion within exon 1 of HOXD13 (NM_000523.4: c.708_720del13; NP_000514.2: p.Gly237fs) was identified. The 13 bp deletion resulted in a frameshift and premature termination of HOXD13. This study provides further evidences that variants in HOXD13 cause BDA3‐BDA4 phenotypes.