Drug-resistant Mycobacterium tuberculosis strains in tuberculosis inpatients in Bangui, Central African Republic.
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Biomedical subjects
Publications and source records attributed to V Vincent.
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The construction of an accurate family pedigree is a fundamental component of a clinical genetic evaluation and of human genetic research. Previous surveys of genetic counselors and human genetic publications have demonstrated significant inconsistencies in the usage of common pedigree symbols representing situations such as pregnancy, termination of pregnancy, miscarriage, and adoption, as well as less common scenarios such as pregnancies conceived through assisted reproductive technologies. The Pedigree Standardization Task Force (PSTF) was organized through the Professional Issues Committee of the National Society of Genetic Counselors, to establish recommendations for universal standards in human pedigree nomenclature. Nomenclature was chosen based on current usage, consistency among symbols, computer compatibility, and the adaptability of symbols to reflect the rapid technical advances in human genetics. Preliminary recommendations were presented for review at three national meetings of human genetic professionals and sent to > 100 human genetic professionals for review. On the basis of this review process, the recommendations of the PSTF for standardized human pedigree nomenclature are presented here. By incorporating these recommendations into medical genetics professional training programs, board examinations, genetic publications, and pedigree software, the adoption of uniform pedigree nomenclature can begin. Usage of standardized pedigree nomenclature will reduce the chances for incorrect interpretation of patient and family medical and genetic information. It may also improve the quality of patient care provided by genetic professionals and facilitate communication between researchers involved with genetic family studies.
Diagnosis is often difficult for mycobacteria because of the limitations of both direct microscopy and cell culture. Polymerase chain reaction (PCR), widely developed in microbiology, could provide major progress in the diagnosis of tuberculosis and atypical mycrobacterial diseases. Sensitivity rarely exceeds 80% and can be lower than 60% compared with traditional culture techniques. The specificity of tuberculosis PCR is rarely better than 97% so that the positive predictive value varies from 5 to 75% depending on the incidence of tuberculosis in the tested population (from 0.2 to 10%). The sensitivity of PCR compared with traditional culture varies from 2 to 90% depending on the laboratory. The proportion of false negative usually varies from 3 to 20%. Reliability should be improved with standardized simplified techniques, but quality control remains essential to validate the method in each laboratory. Current management strategies cannot be developed or changed solely on the grounds of PCR results.
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We cloned and sequenced two DNA fragments (DT1 and DT6) from Mycobacterium avium serotype 2 for use in the identification of members of the M. avium-M. intracellulare complex (MAC). Reference strains of MAC belonging to serovars 1 to 28 were examined by using these DNA fragments as probes. The study revealed that the DT6 probe hybridized with DNAs from M. avium strains (serovars 1 to 6, 8 to 11, and 21), while the DT1 probe hybridized with DNAs from serovars 2, 3, 7, 12 to 20, and 23 to 25. DT1- and DT6-derived oligonucleotides were selected for use as primers in a polymerase chain reaction test. Amplification of the DT1 and DT6 sequences may provide the basis for a rapid and reliable assay for the detection of mycobacteria belonging to MAC.
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Computers may be used by Poison Control Centres (PCCs) for literature retrieval, as answering aids and for case registration. Experience now shows that in each of these uses the computer may be valuable but many of these programs are still in their infancy and there is undoubtedly scope for further development both for service and research applications. The present debate about the role of computers in PCCs is of considerable importance since it must be hoped that it will be possible to make the best use of finances and develop an approach which assists rather than confounds international understanding.
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