男性不育症患者中YRRM2基因缺陷的研究

YRRM基因是控制精子生成与成熟的一个重要因素，一旦该基因缺陷，将会造成无精或少精。本研究对340例无精与少精患者的外周血标本进行了PCR基因扩增筛查，结果发现7例为该基因缺陷，占2％。证明YRRM2的缺陷也是造成中国人群男性不育的一个原因，从而可作为指导医生采用适当治疗方法的一个可靠指标。在实验过程中，采用直接加热白细胞提取基因组DNA，并以此作为模板对YRRM2基因进行扩增，既节省时间和经费，又保持良好的扩增效果，使之可用于临床医院作为常规检查。     

Propriospinal myoclonus after treatment with ciprofloxacin.

The clinical and electrophysiological features of a truncal myoclonus in a 55-year-old man are described. The electromyographic characteristics point toward propriospinal myoclonus. It is suggested that a myoclonic generator was released after use of ciprofloxacin, by antagonising the gamma-aminobutyric acid metabolism.     

不同脑保护方法中炎症反应对脑组织的影响

目的 通过观察体外循环中采用不同脑保护方法时脑组织中各种炎性细胞因子的变化，探讨脑保护对炎症反应的影响。方法 将18只健康成年杂种犬随机均分为3组：常温体外循环组（normothermic cardiopulmonary bypass，NCPB组），深低温停循环组（deep hypothermic circulatory arrest，DHCA组），深低温停循环＋间断选择性顺行性脑灌注组（intermittent selective antegrade cerebral perfusion，ISACP，DHCA＋ISACP组）。术后检测犬脑组织的含水量，分离并取出海马，制备脑组织匀浆，采用放射免疫法测定白细胞介素-1β（IL-1β）和肿瘤坏死因子-α（TNF—α）的含量。在透射电子显微镜（TE）下检测海马脑组织的细胞形态学变化。结果 DHCA组的IL-1β和TNF—α含量明显高于NCPB组和DHCA＋ISACP组（P〈0．01），但NCPB组与DHCA＋ISACP组间比较差别无统计学意义（P〉0．05）；TNF—α和IL-1β含量与脑水肿的程度呈正相关（r=0．987，0．942；P〈0．01）。TE检查显示DHCA组超微结构破坏较严重，而NCPB组和DHCA＋ISACP组破坏较轻。结论 长时间DHCA会造成脑损伤，DHCA＋ISACP有一定的脑保护作用，IL-1β和TNF—α在长时间DHCA中对脑损伤起一定的作用。     

戊糖的立体异构差异对风味物质形成的影响

采用HS-SPME与GC—MS结合的方法，通过对戊糖的4种立体异构物（核糖、木糖、阿拉伯糖、来苏糖）与半胱氨酸Maillard反应挥发性产物的分析，确定了部分挥发物的相对质量分数，并对其随反应时间的变化情况进行了比较分析，进而推测戊糖的结构与反应活性的关系。0．4mol／L等摩尔浓度的戊糖与L-半胱氨酸在磷酸盐缓冲液中，120℃，反应40min时，核糖产生的挥发性产物量远高于其他3种戊糖，说明其反应活性最高；当反应时间达到3h后，4种戊糖的挥发性产物量趋同。     

LONG-TERM OUABAIN ADMINISTRATION DOES NOT ALTER BLOOD PRESSURE IN CONSCIOUS SPRAGUE-DAWLEY RATS

1. We tested the ability of ouabain to cause chronic hyper tension by continuously infusing ouabain for 28 days (mini-osmotic pump implantation; i.p.). The blood pressure and metabolic effects of sham (150 mmol/L NaCI; n= 12) or ouabain infusion (10 μg/kg per day; n= 14; 100 μg/kg per day; n = 14) were examined in conscious Sprague-Dawley rats. 2. Plasma ouabain concentrations measured after 28 days of ouabain infusion were as follows: sham, not detectable (n= 11); ouabain 10 μg/kg per day, 0.60 ± 0.07 nmol/L (n= 14); and ouabain 100 μg/kg per day, 7.17 ± 0.57 nmol/L (n= 14; P < 0.001). 3. Sham or ouabain infusion did not alter food intake, bodyweight, water intake or urine output in conscious rats. 4. Blood pressure was not altered by sham treatment. Ouabain at 10 μg/kg per day or 100 μg/kg per day did not produce consistent rises in blood pressure. Ouabain at 10 μg/kg per day increased blood pressure on treatment day 12 only (+ 6mmHg; P < 0.05), while at 100μg/kg per day blood pres sure increased on treatment days 16 (+ 9 mmHg; P < 0.05) and day 18 (+ 8mmHg; P < 0.05) only. There was no significant difference in blood pressure between sham and ouabain groups. 5. Renal blood flow was decreased in rats infused with ouabain at 10 μg/kg per day (2.0 ± 0.3 mL/min per 100 g body-weight; n= 5; P < 0.01) and 100 μg/kg per day (2.2 ± 0.4 mL/ min per 100 g bodyweight; n= 7; P < 0.05) compared with sham treatment (3.5 ± 0.2 mL/min per 100 g bodyweight; n= 6). Renal vascular resistance was increased in rats treated with ouabain at 10 μg/kg per day (65.5 ± 12.6 mmHg/mL per min per 100 g bodyweight; n= 5; P < 0.01) and 100 μg/kg per day (66.0 ± 15.6 mmHg/mL per min per 100 g bodyweight; n= 7; P < 0.05) compared with sham treatment (32.6 ± 2.5 mmHg/mL per min per 100 g bodyweight; n= 6). 6. High plasma concentrations of ouabain do not cause consistent increases in blood pressure in conscious Sprague-Dawley rats.     

Homozygosity for the transthyretin-Met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences

Familial amyloidotic polyneuropathy (FAP) with a mutation in position 30 of transthyretin (TTR) (previously called prealbumin) is an autosomal dominant inherited disorder characterized by varying degrees of peripheral neuropathy, nephropathy, gastrointestinal problems, and vitreous amyloid. We have earlier diagnosed homozygosity for the TTR-Met30-gene using Southern analysis in four Swedish individuals. We have found it possible to detect homozygosity for the Met-30 mutation by amplifying discrete regions of the TTR-gene using polymerase chain reaction (PCR), and the amplification products restricted with NsiI analysed by gel electrophoresis. Clinical data on seven homozygous individuals, including three new cases, are presented.     

Allergy to barium sulfate suspension with angioedema of the stomach and small bowel

Hypersensitivity reactions occurring during barium studies of the gastrointestinal tract are rare. A case is presented with radiographically demonstrated angioedema in the stomach and small bowel accompanied by allergic rhinitis, which was apparently an allergic response to the barium sulfate suspension. The reaction was documented twice during separate challenges to the barium suspension performed several months apart.     

dC14可抑制小鼠SRS腹水瘤的发病和生长

作者曾经体外实验证明,均聚寡脱氧胞嘧啶核苷酸片段(dC14)有抗病毒活性,现继续研究其在体内的作用。不给dC14的对照组小鼠,接种腹水瘤细胞后:100％发病和死亡,潜伏期为6d,存活期11d;给每只小鼠dC14 1.3～3.2 mg,发病率和死亡率降低至20％,疾病潜伏期和存活期推迟。在未经dC14处理的种瘤细胞和淋巴组织与经处理的淋巴组织中,多聚酶链反应(PCR)法都检测到病毒核酸,而正常小鼠中则无此种病毒核酸顺序。研究结果提示,dC14对小鼠SRS腹水瘤的发病和生长有抑制作用。此种抑制作用可能是通过抑制病毒基因的表达来实现的。     

全植入式药泵行肝血管灌注治疗晚期肝癌

对２４例不能切除的晚期肝癌采用完全植入式药泵行肝动脉和门静脉双灌注化疗。结果：部分缓解（ＰＲ）１５例（６２．５％），稳定（Ｓ）８例（３３．３％），进展（Ｐ）１例。平均生存期为９．１７月，半年生存率为６６．７％，１年为２５％。在ＡＦＰ＞４００μｇ／Ｌ的１０例中，５例下降。     

Autopsy findings in two cases of neonatal herpes simplex virus infection: detection of virus by immunohistochemistry, in situ hybridization and the polymerase chain reaction

We describe the pathological findings in two fatal cases of neonatal infection with herpes simplex virus. One had an encephalitis caused by herpes simplex virus type 2 (HSV-2); the other had a disseminated infection with herpes simplex virus type 1 (HSV-1). Confirmation of the diagnosis was obtained by use of the polymerase chain reaction to amplify viral DNA from paraffin sections of autopsy tissues. By using primers which amplify fragments of the HSV-1 thymidine kinase gene and HSV-2 glycoprotein gene respectively it was possible to discriminate between infection with HSV-1 and HSV-2. In contrast, immunohistochemistry and in situ hybridization using commercially available reagents did not distinguish between HSV-1 and HSV-2 infection. However, immunohistochemistry and in situ hybridization are probably more reliable than the polymerase chain reaction for assessment of the distribution of virus in different tissues.