湖北地区306例极重度聋患儿基因芯片筛查分析

目的：通过检测湖北地区极重度感音神经性聋患儿常见耳聋基因突变情况,分析该人群的分子病因学特点,为临床耳聋防治和遗传咨询提供参考。方法：收集306例湖北地区极重度感音神经性聋患儿,抽取外周血,提取DNA,应用遗传性耳聋基因芯片检测GJB2、GJB3、SLC26A4和线粒体12SrRNA4个基因的9个突变热点。对所有携带SLC26A4基因突变患者进行颞骨CT扫描。结果：306名患儿中,132例（43．14％）检出携带不同基因突变,其中有2例携带双基因突变。GJB2基因突变检出率为29．41％（90／306）,SLC26A4基因突变检出率为13．72％（42／306）,线粒体12SrRNA基因突变检出率为O．65％（2／306）。本组患者未检出GJB3基因突变。36例携带SLC26A4基因突变者颞骨CT扫描显示前庭水管扩大。结论：GJB2基因和SLC26A4基因是本组患儿最主要的致聋基因,其中235delC突变为最常见的突变位点,其次为1VS7—2A〉G突变。筛查SLC26A4基因常见突变有助于大前庭水管综合征的诊断。     

超声引导下微波凝固治疗肝癌前后患者免疫指标的动态变化

 目的　观察超声引导下微波凝固治疗肝癌前后患者免疫指标的动态变化。方法　分别于微波治疗前1周及治疗后1、2、3、4周采集患者外周静脉血,用Cr51释放法检测自然杀伤细胞活性,放射免疫法测定白细胞介素-2水平,酶联免疫法测定可溶性白介素2受体水平。结果　肝癌患者存在严重免疫功能低下,与正常人比NK细胞活性与IL-2水平下降;SIL-2R水平上升,均有统计学意义(P<0.01)。微波凝固治疗肝癌后,NK细胞活性明显上升(P<0.05),SIL-2R水平明显降低(P<0.01)。结论　微波热疗后机体免疫功能增强,提高了抗肿瘤能力。     

Ribose conversion with amino acids into pyrraline platform chemicals – expeditious synthesis of diverse pyrrole-fused alkaloid compounds

One-pot conversion of sustainable d-ribose with l-amino acid, methyl esters produced pyrrole-2-carbaldehydes 5 in reasonable yields (32–63%) under pressurized conditions of 2.5 atm at 80 °C. The value-added pyrraline compounds 5 as platform chemicals were utilized for quick installation of poly-heterocyclic cores for the development of pyrrole-motif natural and artificial therapeutic agents. A pyrrole-fused piperazin-2-one scaffold 6 was prepared by reductive amination of pyrralines 5 with benzylamine. While further cyclization of pyrralines 5 with ethane-1,2-diamine produced pyrrolo-piperazin-2-ones 7 with an extra imidazolidine ring, the reaction with 2-amino alcohols derived from natural l-amino acids, alanine, valine, and phenylalanine, respectively provided pyrrolo-piperazin-2-ones 8, 9, and 10 with oxazolidine as the third structural core. Cell viability and an anti-inflammatory effect of the synthesized compounds were briefly tested by the MTT method and the Griess assay, among which 8h and 10g exhibited significant anti-inflammatory effects with negligible cell toxicity.

One-pot conversion of sustainable d-ribose with l-amino acid, methyl esters produced pyrrole-2-carbaldehydes 5 in reasonable yields (32–63%) under pressurized conditions of 2.5 atm at 80 °C.     

Neutrophil chemotaxis in acutely infected and clinically stable cystic fibrosis patients*

Abstract Purpose : The aim of the present study was to evaluate the role of neutrophil chemotaxis in cystic fibrosis (CF) and to also determine whether an acute bacterial infection and the nutritional status of a child can affect neutrophil chemotaxis.
Methods : Twelve acutely infected and 12 clinically stable CF patients and 10 healthy age-matched controls were studied. Neutrophil chemotaxis and random migration were investigated in vitro in the peripheral blood of subjects by the Boyden chamber method and the results were expressed as chemotactic index (CI). The nutritional status of the cases was evaluated as body mass index (BMI).
Results : The CI values in the acutely infected group were found to be significantly lower than the clinically stable and healthy control groups ( P <0.05 and P <0.005, respectively). There was no significant difference between the clinically stable CF group and the healthy control group ( P >0.1). No significant correlation was detected between the CI and BMI of the two groups of CF patients ( P >0.05).
Conclusions : The present study confirms that neutrophil chemotaxis and random migration are normal in clinically stable CF patients. The decreased CI in the acutely infected patients indicates the possible role of infection itself on neutrophil chemotaxis.     

rhBMP-2对骨骼肌卫星细胞增殖与粘附的影响

目的：探讨人重组骨形态发生蛋白(rhBMP)一2对骨骼肌卫星细胞增殖与粘附的影响。方法：体外分离与培养骨骼肌卫星细胞，分别用0、50、100、500、1000ng/ml的rhBMP-2诱导培养基培养48h。利用MTT法测定细胞增殖能力的变化，通过荧光法测定接种后1h的粘附细胞率。结果：rhBMP-2可促进骨骼肌卫星细胞的增殖，这种作用从BMP浓度为500ng/ml即可表现出来，并随着浓度的增加而越发明显。在rhBMP-2作用下骨骼肌卫星细胞的粘附率增高，在500ng/ml的浓度时达最高，但当BMP浓度进一步增加时，细胞粘附率却不再增加。结论：rhBMP-2可促进骨骼肌卫星细胞的增殖，增强其粘附特性。     

Aetiology and outcome of acute renal failure secondary to war related trauma and infectious disease in Croatia

Summary: The aim of our study was to explore the aetiology and the outcome of acute renal failure (ARF) during the war in Croatia. of the 2132 patients admitted to our hospital between April 1990 and November 1992 due to war related trauma, 11 (0.5%) developed ARF. We believe that the development of ARF in these patients was secondary to an overwhelming septic process. Most of our patients suffered from multiple organ failure. of the 11 patients suffering from ARF due to war related trauma only four recovered (63.6% had died). We attribute the lethal outcome to the progression of the septic process. Patients who developed ARF due to infectious diseases unrelated to trauma had a different prognosis. Acute renal failure caused by the Hantan virus ran a benign course, in both its oliguric and non-oliguric form. Patients who developed ARF as a complication of leptospirosis also had a good prognosis. Although ARF is usually of a multifactorial genesis, our study aimed to emphasize the importance of disseminated septic processes as a cause of ARF.     

Course of Shock in Rats with Different Resistance to Shockogenic Trauma during Crush Syndrome

Experiments on narcotized rats with crush syndrome showed that low resistant animals developed pronounced hypovolemia, hemoconcentration, blood hyperviscosity, impairment of oxygen metabolism, and central and peripheral hemodynamic disturbances, whereas in highly resistant rats the hemodynamics and oxygen supply to tissues were maintained at a sufficient level, while hemoconcentration and the increase in blood viscosity were less pronounced.     

Medical Progress in China }， RECENT ADVANCES IN OBSTETRICS AND GYNECOLOGY IN CHINA

With the progress in perinatology, due attention has been paid to Women Health Care in the last few years in China. Since 1985 when the OB/GYN Society set up a Section for Women Health Care, several symposia have been held on women health care from early childhood to the elderly. In 1988, under the guidance of the Preventive Medical Association, maternal and child health care workers came together to organ- ize the Sociaty of Women and Children Health Care.     

Expression of CD1d in the duodenum of patients with cow's milk hypersensitivity

CD1 cell surface glycoproteins represent a family of non-major histocompatibility complex (MHC) encoded antigen-presenting molecules. All members of the CD1 family appear to mediate the recognition of microbial or endogenous lipid and glycolipid antigens. The recognition of CD1d by a unique subset of natural killer (NK) T cells that leads to rapid production of large amounts of both type 1 and type 2 cytokines can be augmented by some synthetic glycolipids. Because of the proposed role of such CD1d-restricted T cells in immunoregulation, we hypothesized that CD1d molecules participate in mucosal immune responses in patients with gastrointestinal symptoms owing to food hypersensitivity. Patients of that category represent a heterogeneous group in which poorly defined immunological mechanisms are believed to contribute to disease pathogenesis. The expression of CD1 in duodenal biopsy samples from six patients with verified intolerance to cow's milk and six healthy controls was studied by immunoperoxidase staining of cryostat sections using a panel of mouse monoclonal antibodies (MoAbs) specific for CD1a, b, c, and d. Large numbers of CD1d positive cells were found in the lamina propria of all the patients, both during the symptomatic and the asymptomatic periods, whereas healthy controls were virtually devoid of CD1d expression in the duodenum. The localization of CD1d positive cells corresponded to areas where B cells, plasma cells and dendritic cells (DC) were present. A positive correlation was found between the numbers of CD1d(+) and CD19(+) cells in the lamina propria. In contrast to previous reports, no CD1d expression was found on the epithelial cells. Although less numerous than CD1d(+) the CD1c(+) cells were also present in all the patients and in five out of six controls. No staining for CD1a or CD1b was detected in the duodenal biopsy samples from any of the subjects. The exclusive presence of CD1d in the duodenal lamina propria of the patients with cow's milk hypersensitivity might suggest the participation of these molecules in the pathogenesis of allergic reactions to food.