Association analysis of COMT polymorphisms and schizophrenia in a Chinese Han population: a case-control study.

Schizophrenia is a common disease with complex mode of inheritance; great efforts have been made to identify the susceptible genes. Catechol-O-methyltransferase (COMT) gene has long been considered as a candidate gene mainly because of two reasons: First, it encodes a key dopamine catabolic enzyme. Second, it maps to the velocardiofacial syndrome (VCFS) region of chromosome 22q11, which is associated with schizophrenia predisposition. Numerous case-control and family-based studies have been conducted, majority of them focused on a functional Val/Met polymorphism (rs4680). Unfortunately, these studies have produced conflicting results. In a previous report, Shifman et al. found a three-marker haplotype (rs737865-rs4680-rs165599) that showed significant association with schizophrenia. In this study, we try to replicate their findings in Chinese Han population and failed to find any associations.     

淋巴结血管内T细胞淋巴瘤1例报道及文献复习

目的　探讨血管内淋巴瘤 (IVL)的临床病理特征。方法　对 1例腹股沟淋巴结IVL临床、病理组织学及免疫表型进行观察分析并复习文献。结果　男性 31岁 ,不明原因高热伴消瘦 5 0天 ,右腹股沟直径 1cm淋巴结 1枚 ,B超示肝脏轻度增大 ,血LDH明显升高伴ESR及转氨酶轻度升高 ,外周血WBC 3 3× 10 7/L ,骨髓像、多种病原及各肿瘤相关抗原检测均无异常。病理活检 :腹股沟淋巴结大部分破坏 ,代之以大量扩张的中小血管 ,腔内充满大量异型淋巴样细胞 ,局部伴管壁、管周浸润并累及结外脂肪组织。瘤细胞免疫表型CD4 5、CD4 5RO、CD3阳性 ,CK、CD6 8、CD79α、CD2 0均阴性 ,血管壁及内皮细胞CD31、CD34阳性。行CHOP化疗后症状缓解 ,现仍在随访中。结论　IVL是一罕见的非霍奇金淋巴瘤 ,好发于中枢神经系统及皮肤 ,其他部位少见 ,绝大数为B细胞型 ,T型罕见 ,以浅表淋巴结活检确诊者尚无报道。临床表现有一定提示性 ,确诊靠组织病理学检查 ,部分病例对化疗敏感 ,但多数病例预后差     

戊型肝炎病毒Ⅰ、Ⅱ与Ⅲ、Ⅳ基因型B细胞抗原表位的异同

目的：制备戊型肝炎病毒(HEV)缅甸株和墨西哥株ORF2重组蛋白(p166Bur和p166Mex)的单克隆抗体(McAbs)，用于分析HEV不同基因型B细胞抗原表位的特点。方法：将免疫BALB/C小鼠脾细胞与SP2/0骨髓瘤细胞融合，获得分泌抗-p166Bur和抗-p166Mex McAbs的杂交瘤细胞株，然后采用ELISA和免疫印迹法测定McAbs与不同基因型HEV ORF2编码蛋白p166的免疫反应性。结果：获得4株杂交瘤细胞株，即分泌抗-p166Bur McAbs的2G2、2B1以及分泌抗-p166Mex McAbs的D8G10和E5E12，其中2B1分泌的McAb仅能与第Ⅰ、Ⅱ基因型编码的重组蛋白结合，而其余3株分泌的McAbs既能与Ⅰ、Ⅱ基因型HEV的p166重组蛋白发生反应，也能与Ⅲ、Ⅳ基因型的p166蛋白反应。结论：HEV第Ⅰ、Ⅱ基因型与Ⅲ、Ⅳ基因型ORF2编码蛋白既有共同又有不同的B细胞抗原表位。     

Alterations in extracellular matrix components in transplant glomerulopathy

The distribution pattern of extracellular matrix (ECM) components in transplant glomerulopathy was studied in relation to light microscopic features, actin expression of mesangial cells, and intraglomerular inflammatory cells. Nine cases of mild (group I) and nine cases of severe (group II) transplant glomerulopathy were stained with antisera against fibronectin (FN), tenascin (TN), collagen types III and IV, smooth muscle actin, CD45RO, CD68, and Ki-67 antigen. The composition of ECM was similar in the two groups. The expanded mesangium was diffusely stained by type-IV collagen, FN and TN, and focally and weakly stained by type-III collagen and smooth muscle actin. Type-IV collagen was linearly stained along the capillary walls, imparting a double-contour feature, whereas FN and TN showed granular staining along the capillary walls. CD68 positive cells were increased in severe transplant glomerulopathy, but this increase was not related to ECM deposition. These findings suggest that increased glomerular deposition of normal and abnormal ECM components participate in the evolution of transplant glomerulopathy. Received: 5 October 1999 / Accepted: 17 January 2000     

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome

The Smith-Lemli-Opitz syndrome (SLOS; also known as the RSH syndrome) is an autosomal recessive genetic disorder, leading to characteristic multi-organ developmental abnormalities, dysmorphic facies, limb malformations and mental retardation. Mutations in the gene for Delta(7)-dehydrocholesterol reductase (Delta(7)-reductase), which catalyzes the last step in cholesterol biosynthesis, cause the disease. We screened 32 patients with SLOS, 28 from the USA and four from Sweden. Twenty-two different nucleotide changes, predicted to be disease-causing mutations, were identified; 20 missense mutations, one nonsense mutation and one splice-site mutation involving the exon 9 acceptor site (IVS8 -1G-->C) were detected. All probands were heterozygous for mutations. Twelve of these mutations have not been reported previously, including missense mutations L148R, F168I, D175H, P179L, P243R, F284L, N287K, F302L, R404S, Y462H, R469P and one nonsense mutation W37X [corrected]. Coupled with previously reported mutations, these findings bring the total of different Delta(7)-reductase mutations to 36. These are distributed throughout the coding sequence of the Delta(7)-reductase gene except exons 3 and 5, with a clustering in exon 9. Three mutations account for 54% of those observed in our cohort, the splice acceptor site mutation IVS8 -1G-->C (22/64 alleles, 34%), T93M (8/64, 12.5%) and V326L (5/64, 7.8%). Severity of SLOS was negatively correlated with both plasma cholesterol and relative plasma cholesterol, but not with 7-dehydrocholesterol, the immediate precursor, confirming previous observations. However, no correlation was observed between mutations and phenotype, suggesting that the degree of severity may be affected by other factors. We estimate that between 33 and 42% of the variation in the SLOS severity score is accounted for by variation in plasma cholesterol. Thus, factors other than plasma cholesterol are additionally involved in determining severity.     

Development of fungal mycelia as a skin substitute: characterization of keratinocyte proliferation and matrix metalloproteinase expression during improvement in the wound-healing process

SACCHACHITIN membranes, prepared from the waste residue of the fruiting body of Ganoderma taugae, were used in our previous study to enhance skin wound healing in animal models. In the present study, the effects of the membrane on the growth of keratinocytes and the activity of matrix metalloproteinases (MMPs), as well as on the healing of skin wounds in humans, were estimated. Fresh human foreskin was employed as the source of the keratinocyte culture, and a modified keratinocyte-SFM medium supplemented with 0.2 ng/mL of recombinant epidermal growth factor and 30 microg/mL bovine pituitary extract was used to enhance the successful growth of keratinocytes under an atmosphere of 5% CO2, at 37 degrees C. The results indicated that 0.01% SACCHACHITIN enhanced the proliferation of keratinocytes in the culture on the fourth and fifth days, and cells showed neither morphological alteration nor disordered proliferation. This evidence clearly indicated that SACCHACHITIN was not cytotoxic to and was safe for the growth of keratinocytes. Thus, SACCHACHITIN might play a positive role in the proliferation and differentiation of keratinocytes around wounds and in accelerated wound healing of epidermal tissue. In addition, microscopic observations during the growth of keratinocytes showed that normal proliferation and differentiation took place along the margin of the SACCHACHITIN membrane. This indicates that SACCHACHITIN is possibly cytocompatible with keratinocytes. Electrophoretic analysis and inhibition tests for the binding effect of SACCHACHITIN on MMPs showed that SACCHACHITIN reduced MMPs in extracellular matrix degradation and facilitated establishment of an extracellular matrix around wounds; these effects resulted in rapid wound healing. SACCHACHITIN was used as a skin dressing for patients who had skin chronicle ulcer, which had not healed for over 7 months. Preliminary clinical observations showed that the wound improved and began to heal. An analysis of MMPs by ELISA in tissue of the wound indicated a significant decrease in MMP levels.     

克罗米酚的抗癫癎作用

目的:了解雌激素受体调节剂克罗米酚(clomiphene citrate,CC)对海人藻酸(kainic acid, KA)致癎大鼠癫癎发作行为的影响。方法:健康雌性SD大鼠40只,均行双侧卵巢切除术,术后第八天将动物随机分4组:茶油对照组(OIL组)、KA组、雌二醇(E2) KA组、E2 CC KA组,每组10只。 OIL组、KA组连续5天腹腔注射茶油;E2 KA组连续5天腹腔注射E2(20mg／kg,10mg／ml);E2 CC KA组连续5天腹腔注射E2和CC(2mg／kg,2mg／ml),最后一次打药结束1 h后,致癎各组大鼠(KA 组、E2 KA组、E2 CC KA组)经腹腔注射KA(10mg／kg,2mg／ml),OIL组腹腔注射生理盐水后,连续观察大鼠2 h的行为改变。记录癎样发作的潜伏期、出现重型发作的时间以及发作程度。结果:E2 CC KA组的癫癎发作潜伏期为61．75±19．04 min,较E2 KA组的潜伏期23．8±6．03 min延长,且出现重型癫癎发作的时间晚,为50．20±20．37 min,而E2 KA组出现重型癫癎发作时间平均为30．70 ±13．58 min,两组比较差异有显著意义(P<0．05)。致癎2 h后,致癎各组大鼠的癫癎发作Racine分级比较差异显著意义(P>0．05)。结论:CC有拮抗雌激素的致癎作用,延缓癫癎的发作。