Mutation analysis of the SDHD gene in four kindreds with familial paraganglioma: description of one novel germline mutation.

The familial paraganglioma syndrome is an autosomal dominant disorder characterized by the presence of carotid body paragangliomas and, less frequently, paragangliomas of the glomus jugulare, glomus vagale, and adrenal pheochromocytomas. Germline mutations of the genes for succinate dehydrogenase subunits D, B, or C (SDHD, SDHB, SDHC) have been identified in some kindreds with familial paraganglioma. In this study, we report the clinicopathologic features of four different kindreds with familial paraganglioma, which were screened for germline mutations in the SDHD gene. DNA was obtained from tumor and normal tissue, as well as from peripheral blood. Mutation analysis was performed by single-strand conformation polymorphism analysis and DNA sequencing. SDHD germline mutations were detected in the affected family members of the four families, as well as in several asymptomatic carriers. An identical mutation in exon 4 of SDHD (334-337delACTG) was identified in two apparently unrelated kindreds. The third family showed a germline mutation in exon 2 (W43X). The mutations present in these three families had been previously described in Spanish families, suggesting a founder effect. The fourth family exhibited a mutation in exon 2 of SDHD (170-171delTT), which had not been previously identified. The affected family members of the four kindreds showed paragangliomas, located in the head and neck region, and all of them were benign. These results confirm that genetic testing of SDHD may be a powerful tool for the identification of the syndrome in patients with multiple or bilateral paragangliomas.     

Influence of a self-etching primer on compound nerve action potentials

The aim of this study was to evaluate the effect of self-etching primers on nerve conductance. A self-etching primer (One Up Bond F) which combines etching and bonding in one step, and a fifth-generation bonding agent (Prime&Bond NT ) were tested. Isolated rat sciatic nerves were placed between two platinum electrodes in a bath containing Tyrode solution. The bonding agents were brought into contact with the nerves and the evoked compound action potentials (CAP) were recorded before and after contact with the materials. One Up Bond F caused total inhibition of the CAP within an average time of 7 min. All CAPs in this group were blocked irreversibly. As with Prime&Bond NT, the reduction in CAP was 45.9% after an application time of 15 min, after which readings were terminated. Recovery of the CAP in this group were maintained after rinsing with fresh tyrode solution. One Up Bond F elicited faster blocking of nerve conductance under the conditions of this model. In the context of dentin desensitization with bonding agents, the self-etching primer may be more effective, clinically.     

秦巴山区初中学生心理健康状况调查研究

目的　了解秦巴山区初中学生心理健康状况及其影响的主要因素。方法　采用 SCL-90临床症状自评量表随机对陕西省安康地区双溪乡初中学生进行心理健康测查。结果　秦巴山区双溪乡初中学生心理健康状况与全国初中学生心理健康常模比较 ,并未出现显著性差异 ;影响初中男生心理健康因素从大到小的顺序为 :抑郁 >躯体化 >焦虑 >强迫 >精神病性 >恐怖 >人际关系 >偏执 >其它 >敌对 ;影响女生心理健康因素从大到小的顺序为 :抑郁 >躯体化 >焦虑 >人际关系>强迫 >精神病性 >恐怖 >敌对 >其它 >偏执。结论　秦巴山区初中学生心理健康状况良好。影响秦巴山区初中学生心理健康的最主要因素为 :抑郁、躯体化和焦虑。     

Oral DNA vaccination with a plasmid encoding soluble ICAM-1 modulates cytokine expression profiles in nonobese diabetic mice

Adhesion molecules are important for leukocyte extravasation and for the delivery of costimulatory signals in T cell activation. We therefore interfered in the immune process leading to islet inflammation in diabetes prone NOD mice by oral vaccination with plasmid DNA encoding soluble ICAM-1. Female NOD mice were treated orally with ICAM-1, TGF-beta, or control plasmid DNA and received a single injection of cyclophosphamide for synchronization and acceleration of the disease process in the pancreas. Quantitative RT-PCR analysis of pancreatic mRNA showed that cyclophosphamide induced the expression of Th1 cytokines (IFN-gamma and IL-12p40) in vehicle- or control plasmid-treated mice. Treatment with ICAM-1 and TGF-beta DNA resulted in increased levels of IL-10 mRNA in the pancreas, indicating an anti-inflammatory regulatory immune response. Histological analysis of pancreatic islets showed that the DNA treatment did not alter islet infiltration in response to cyclophosphamide. Hence vaccination with the ICAM-1 plasmid had not suppressed leukocyte migration but rather modulated lymphocyte activity, similarly as seen for the TGF-beta-encoding plasmid. Neither of the three plasmids caused recognizable changes in cytokine expression in the small intestine, Peyer's patches, or mesenteric lymph nodes. We conclude that oral vaccination with DNA encoding immunoregulatory molecules such as ICAM-1 and TGF-beta represents an approach for modulating the ongoing inflammatory process in the pancreas of diabetes prone NOD mice.     

人类白细胞抗原-G突变体cDNA克隆及在K562细胞上的表达

目的：克隆人类白细胞抗原-G(Human leukocyte antligen-G，HLA-G)突变体cDNA，并使其在HLA-I类阴性的K562细胞上获得稳定表达，为研究配-受体之间的识别机制奠定基础。方法：用RT-PCR方法从人子宫蜕膜组织扩增出HLA-GcDNA，得到全长HLA-GPCR产物后，用桥式PCR方法进行定点点突变，将突变的目的基因亚克隆于逆转录，将突变的目的基因亚克隆于逆转录mG-pLNCX表达载体，采用感染的方法将重组质粒转入K562细胞，最后经G418筛选及有限稀释，利用单克隆抗体W6/32进行FACS及mRNA检测，观察HLA-G突变体在靶细胞表面的表达。结果：HLA-G突变体分子在经mG-pLNCX转染的靶细胞表面获得稳定高表达。结论：成功构建了mG-pLNCX表达载体，并使HLA-G突变体分子在HLA-I类阴性的靶细胞K562细胞上获得稳定表达。     

Health education for pregnant women: the role of background characteristics

This was a pilot study with the purpose of determining the effect of health education in enhancing the self-care agency of pregnant women and to define the role of their background characteristics in the success of this education. Subjects of this study were 30 pregnant women who visited a university hospital for check. The success of the given education was measured by pre- and post-tests that were applied before and after health education using "self-care agency scale". Data were evaluated according to t-test and variance analysis. After health education, the self-agency scores of the pregnant women increased significantly (P < 0.05). It was defined that pregnant women with the least self-care agency scores before health education, displayed the best progress after the education.     

Family-based association study of neuregulin-1 gene and psychosis in a Spanish sample.

Neuregulin 1 (NRG1) is one of the most exciting candidate genes for schizophrenia since its first association with the disorder in an Icelandic population. Since then, many studies have analyzed allele and haplotype frequencies in European and Asian populations in cases and controls yielding varying results. We investigated the association of NRG1 with psychosis in a total sample set of 575 individuals from 151 Spanish nuclear families. We tested eight SNPs across 1.2 Mb along NRG1 including regions previously associated to schizophrenia in association studies. After correction for multiple testing, the TDT analysis for each marker did not show a significant over-transmission of alleles from the parents to the affected offspring for any of the markers (P > 0.05). The haplotypic analysis with TRANSMIT and PDT did not show preferential transmission for any of the haplotypes analyzed in our sample. These results do not seem to suggest that the investigated NRG1 markers play a role in schizophrenia in the Spanish population, although the finding of a trend for association with one SNP in the 3'of the gene warrants further investigation.     

A quantitative study on the sacrum of the dog.

The aim of this study was to record sacral bone morphometry that may help in selection of the implant type and proper size in sacroiliac separation. For this reason, sacral lengths and width, the length of each sacral vertebrae, distances between cranial and caudal articular processes, vertical and transversal diameters of the cranial endplate, sacral tuberositas and articular surface areas were obtained from 11 dogs. Additionally, the transverse and vertical diameters of the bony structure and sacral canal were measured from six cross-sections. The data of the study were determined to be representative of the sacral values for average-sized dogs, which was confirmed statistically. The highest value was the sacral width among the linear measurements. The ventral sacral length was longer than the dorsal sacral length. The total lateral area of the sacral wing was measured as 677.46 (142.1)mm2. The transverse diameters of the first sacral vertebra important for screw implantation were 46.02 (4.33)mm and 44.18 (5.29)mm in the first and second cross-sections, respectively.     

A-raf oncogene localizes on mouse X chromosome to region some 10–17 centimorgans proximal to hypoxanthine phosphoribosyltransferase gene

The localization of the A-rafcellular oncogene on the mouse X chromosome has been determined using Xbal-restricted DNAs prepared from progeny of an interspecies backcross between the B6.CBA.R1 and the Spe/Pas mouse strains. This localization to the proximal part of the mouse X chromosome has been confirmed by the use of somatic cell hybrids, carrying partially deleted X chromosomes and suggests that the A-raf oncogene localizes to a region lying some 10–17 centimorgans proximal to the hypoxanthine phosphoribosyltransferase (Hprt) gene between the locus DXPas4and the locus DXPas7defined by the cross-reacting human X chromosome-specific probe DXS32 (M2C). This localization on the mouse X chromosome is compatible with the presence of the A-rafoncogene on the short arm of the human X chromosome between the centromere and Xp21.     

Regulation of membrane histamine H1-Receptor binding sites by guanine nucleotides,mono- and divalent cations

Agonist interaction with histamine H₁-receptor in [³H] mepyramine bovine aortic membranes labeled with [³H] mepyramine is selectively regulated by cations and guanine nucleotides. GTP and his nonhydrolisable analog Gpp(NH)p' markedly decrease histamine affinity for [³H] mepyramine binding sites. The effect of GTP is reversed in the presence of divalent cation, magnesium. Calcium and sodium ions have little effect on histamine binding whereas magnesium ions decrease the affinity of histamine for the radioantagonist binding sites about tenfold.GTP has little effect on [³H] mepyramine binding and the interaction of H₁-antagonist triprolidine with histamine H₁-receptors. The above results indicate that the effect of guanine nucleotides, mono and divalent cations involves the effect on membrane signal transducing mechanism probably GTP-binding protein(s) cation regulatory site(s) rather than receptor binding site directly.