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51.
Xiang F Buervenich S Nicolao P Bailey ME Zhang Z Anvret M 《Journal of medical genetics》2000,37(4):250-255
Rett syndrome (RTT) was first described in 1966. Its biological and genetic foundations were not clear until recently when Amir et al reported that mutations in the MECP2 gene were detected in around 50% of RTT patients. In this study, we have screened the MECP2 gene for mutations in our RTT material, including nine familial cases (19 Rett girls) and 59 sporadic cases. A total of 27 sporadic RTT patients were found to have mutations in the MECP2 gene, but no mutations were identified in our RTT families. In order to address the possibility of further X chromosomal or autosomal genetic factors in RTT, we evaluated six candidate genes for RTT selected on clinical, pathological, and genetic grounds: UBE1 (human ubiquitin activating enzyme E1, located in chromosome Xp11.23), UBE2I (ubiquitin conjugating enzyme E2I, homologous to yeast UBC9, chromosome 16p13.3), GdX (ubiquitin-like protein, chromosome Xq28), SOX3 (SRY related HMG box gene 3, chromosome Xq26-q27), GABRA3 (gamma-aminobutyric acid type A receptor alpha3 subunit, chromosome Xq28), and CDR2 (cerebellar degeneration related autoantigen 2, chromosome 16p12-p13.1). No mutations were detected in the coding regions of these six genes in 10 affected subjects and, therefore, alterations in the amino acid sequences of the encoded proteins can be excluded as having a causative role in RTT. Furthermore, gene expression of MECP2, GdX, GABRA3, and L1CAM (L1 cell adhesion molecule) was also investigated by in situ hybridisation. No gross differences were observed in neurones of several brain regions between normal controls and Rett patients. 相似文献
52.
M De Paschale C Agrappi P Clerici P Mirri M T Manco S Cavallari E F Viganò 《Clinical microbiology and infection》2008,14(2):186-189
The decreasing prevalence of anti-Toxoplasma antibodies in Europe has re-opened the question of the appropriateness of serological screening during pregnancy. A study of 3426 pregnant women, resident in the Legnano area of Italy, revealed that the IgG seroprevalence according to ELISA was 21.5%, and that of IgM according to ELISA and enzyme-linked fluorescent assay was 1.2% and 0.9%, respectively. The incidence of infection, estimated on the basis of IgG avidity, was 0.9%. These results confirm a decrease in the prevalence of IgG, but indicate a high incidence of infection, thus suggesting that screening for anti-Toxoplasma antibodies during pregnancy should be maintained. 相似文献
53.
Immunoprecipitation of radiolabeled polypeptides from complex mixtures of proteins was performed in polystyrene microtiter plates using staphylococcus protein A and various antibody preparations. The method is (1) rapid, (2) uses multichannel micropipettor technology, (3) handles large numbers of specimen easily, (4) requires very small volumes of antigen and antibody (5–50 μl), (5) provides replicates for statistical analysis and (6) allows recovery of precipitated proteins for direct SDS-PAGE analysis of precipitated proteins. We have shown it is useful as a test to screen large numbers of sera or to characterize monoclonal antibody-containing samples. 相似文献
54.
An automated multiphasic-health-test system has been opened in Japan for the early detection and treatment of disease in adults. The centre utilises system simulation, digital computation and automated medical equipment, and has made it possible to handle many examinees daily, and to retrieve their data easily. This paper reports many new data and their analysis. 相似文献
55.
A computer model was designed as a relational database to assess breast cancer screening in a cohort of women where the growth and development of breast cancer originates with the first malignant cell. The concepts of thresholds for growth, axillary spread, and distant sites are integrated. With tumor diagnosis, staging was performed that includes clinical and sub-clinical states. The model was parameterized to have staging characteristics similar to data published by the Surveillance, Epidemiology, and End-Results (SEER) Program. Validation was accomplished by comparing simulated staging results with non-SEER sources, and simulated survival with independent clinical survival data. 相似文献
56.
Mutations in the human fibrillin 1 gene (FBN1) cause the Marfan syndrome (MFS), an autosomal dominant connective tissue disorder. Knowledge about FBN1 mutations is important for early diagnosis, management, and genetic counseling. However, mutation detection in FBN1 is a challenge because the gene is very large in size ( approximately 200 kb) and the approximately 350 mutations detected so far are scattered over 65 exons. Conventional methods for large-scale detection of mutations are expensive, technically demanding, or time consuming. Recently, a high-capacity low-cost mutation detection method was introduced based on denaturing high-performance liquid chromatography (DHPLC). To assess the sensitivity and specificity of this method, we blindly screened 64 DNA samples of known FBN1 genotype exon-by-exon using exon-specific DHPLC conditions. Analysis of 682 PCR amplicons correctly identified 62 out of 64 known sequence variants. In three MFS patients of unknown FBN1 genotype, we detected two mutations and eight polymorphisms. Overall, 20 mutations and two polymorphisms are described here for the first time. Our results demonstrate 1) that DHPLC is a highly sensitive (89-99%, P = 0.05) method for FBN1 mutation detection; but 2) that chromatograms with moderate and weak pattern abnormalities also show false positive signals (in all 45-59%, P = 0.05); 3) that the difference in the chromatograms of heterozygous and homozygous amplicons is mostly independent of the type of sequence change; and 4) that DHPLC column conditions, additional base changes, and the amounts of injected PCR products influence significantly the shape of chromatograms. A strategy for FBN1 mutation screening is discussed. 相似文献
57.
The ethical and legal issues arising from genetic screening in embryo donation are discussed in relation to two recent cases where embryos with uncertain genetic health were offered for donation. 相似文献
58.
Field evaluation of the efficacy and immunogenicity of recombinant hepatitis B vaccine without HBIG in newborn Vietnamese infants 总被引:4,自引:0,他引:4
A study involving more than 2,000 infants was conducted in Vietnam to assess the field effectiveness and immunogenicity of recombinant hepatitis B vaccine given at birth, 1 month, 2 months, without concomitant hepatitis B immune globulin (HBIG). All received a 5 microg dose of H-B-VAX II at birth. Infants born to non-carrier mothers (Group 1; N = 1798) then received 2.5 microg doses at 1 and 2 months of age, while infants of HBeAg-negative (Group 2; N = 125) or HBeAg-positive (Group 3; N = 88) carrier mothers received 5 microg doses. No Group 1 or 2 vaccinees were infected. In Group 3, 12 (14.6%) of 82 infants did become infected (estimated efficacy 84%). 98.0-98.6% of uninfected infants who were tested for anti-HBs developed a seroprotective concentration > or = 10 IU/L. In hyperendemic Vietnam, where routine maternal screening and passive-active prophylaxis of high-risk infants with vaccine plus HBIG is not feasible, administration of vaccine alone to all newborns may control effectively HBV infection. 相似文献
59.
Simon Gilbody David Richards Michael Barkham 《The British journal of general practice》2007,57(541):650-652
There is increased emphasis on routine assessment of depression in primary care. This report is the first UK validation of two self-completed measures: the Patient Health Questionnaire (PHQ-9) and the Clinical Outcomes in Routine Evaluation-Outcome Measure (CORE-OM). Optimum cut-off points were established against a diagnostic gold standard in 93 patients. PHQ-9 sensitivity = 91.7% (95% confidence interval [CI] = 77.5 to 98.3%) and specificity 78.3% (95% CI = 65.8 to 87.9%). CORE-OM sensitivity = 91.7% (95% CI = 77.5 to 98.2%) and specificity = 76.7% (95% CI = 64.0 to 86.6%). Brief self-rated questionnaires are as good as clinician-administered instruments in detecting depression in UK primary care. 相似文献
60.
A mass screening programme for cervical cancer is in progress in three pilot regions in The Netherlands. All women living in these regions aged 35-53 are invited to undergo screening at three-year intervals. The MISCAN simulation model was developed for the analysis and optimization of screening programmes. In this paper the model-based approach to evaluation is first outlined and then illustrated by analysing data from the first two screening rounds in the pilot regions. This analysis resulted in a rather restricted range of data-compatible assumptions for the mean duration of preclinical disease (14-19 yr) and the frequency of spontaneous regression of preinvasive lesions (45-65%), as well as a rather wide sensitivity range for the Pap smear (50-90%). These preliminary findings are compared with those of a previous MISCAN analysis of cervical cancer screening in British Columbia. On the basis of an assumed 18-yr duration, 50% regression and 70% sensitivity, a number of screening policies relating to the same age ranges but with different intervals are compared. Both the analysis and the policy comparisons are preliminary, but the findings are nevertheless reasonable and consistent with those of previous studies. A more complete MISCAN-based analysis of the Dutch screening programme and subsequent optimization of screening policies will be possible when further results become available and a cost-effectiveness analysis procedure has been incorporated into the MISCAN programme. 相似文献