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991.
We report a cytogenetic and fluorescence in situ hybridization study of a family in which a female child showed all the main characteristics of Angelman syndrome. Her karyotype revealed a translocation between chromosomes 5 and 15 with a partial deletion from 15pter to the Angelman region. Several members of her family appeared to be carriers of the same translocation, but showed no symptoms. The karyotypes showed a marker chromosome, that was not present in the female with Angelman syndrome. Fluorescence in situ hybridization revealed that the marker chromosome corresponded to material from chromosome 15. The present study is in agreement with the suggestion that genomic imprinting is one of the mechanisms involved in Angelman syndrome.  相似文献   
992.
BACKGROUND: The usefulness of and problems associated with an ultrasound catheter probe in the pretreatment staging of endoscopically early gastric cancer remain unexplored. METHODS: Endoscopic ultrasonography using a 15 MHz catheter probe of 2.6 mm diameter was performed in a prospective study to determine the pretherapy staging of endoscopically early gastric cancer in 78 patients. The results of the ultrasound images were compared with the histologic findings of the specimens obtained by endoscopic mucosal resection or surgical resection. RESULTS: The accuracy of the catheter probe for depth of invasion of endoscopically early gastric cancers was 67% (52 of 78 patients). The accuracy in determining depth of invasion in relation to endoscopic type was significantly higher for the elevated type (91%) than for the depressed type of early cancer (56%) (p < 0.01). The staging accuracy classified by histologic type was significantly higher for differentiated (86%) than for undifferentiated (18%) cancer (p < 0.01). Staging accuracy decreased as tumor size increased. The accuracy, sensitivity, and specificity for nodal staging were 80%, 17%, and 90%, respectively. CONCLUSIONS: A 15 MHz ultrasound catheter probe is most useful for determining depth of invasion when the tumor is histologically differentiated and endoscopically of the small elevated type early gastric cancer, but it is unreliable in the diagnosis of metastatic lymph nodes.  相似文献   
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A biosensor based on magnetoresistance technology   总被引:1,自引:0,他引:1  
We are developing a biosensor that will measure, at the level of single molecules, the forces that bind DNA-DNA, antibody-antigen, or ligand-receptor pairs together. The Bead Array Counter (BARC) will use these interaction forces to hold magnetic microbeads to a solid substrate. Microfabricated magnetoresistive transducers on the substrate will indicate whether or not the beads are removed when pulled by magnetic forces. By adapting magnetoresistive computer memory technology, it may be possible to fabricate millions of transducers on a chip and detect or screen thousands of analytes. The multi-analyte capability of this portable sensor would be ideal for on-site testing, while the potential to directly gauge intermolecular interaction strengths suggests drug discovery applications.  相似文献   
997.
Efficient computational methods based on first and second order approximations (FORM/SORM) of the tails of a random variable, which is defined as a function of a set of basic variables, are given. Interesting examples of these types of functions are the probabilities of occurrence of the root events of fault trees or nodes in a Bayesian network. The method allows estimation of extreme percentiles and high confidence one-sided probability intervals of the target variables. Several examples of applications to real cases are used to illustrate the whole process.  相似文献   
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A quantitative microbial assay was used to study the stability of known mutagenic and carcinogenic compounds in cell culture medium. Ten direct-acting carcinogens, when incubated in culture medium with 15% fetal bovine serum at pH 7.2-7.4 and 37 degrees C, became inactive at varying rates. Biologic half-lives of the test compounds ranged from 8 minutes to 67 hours. In contrast, six procarcinogens showed no significant inactivation after 3 weeks' incubation. The biologic half-lives of each compound were presented, and the significance of these findings as they relate to cell culture carcinogenesis and mutagenesis assays was discussed.  相似文献   
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