1,388 research outputs found

    Application and evaluation of the MLVA typing assay for the Brucella abortus strains isolated in Korea

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    <p>Abstract</p> <p>Background</p> <p>A Brucella eradication program has been executed in Korea. To effectively prevent and control brucellosis, a molecular method for genetic identification and epidemiological trace-back must be established. As part of that, the MLVA typing assay was evaluated and applied to <it>B. abortus </it>isolates for analyzing the characteristics of the regional distribution and relationships of foreign isolates.</p> <p>Results</p> <p>A total of 177 isolates originating from 105 cattle farms for the period 1996 to 2008 were selected as representatives for the nine provinces of South Korea. A dendrogram of strain relatedness was constructed in accordance with the number of tandem repeat units for 17 loci so that it was possible to trace back in the restricted areas. Even in a farm contaminated by one source, however, the <it>Brucella </it>isolates showed an increase or decrease in one TRs copy number at some loci with high DI values. Moreover, those 17 loci was confirmed in stability via <it>in-vitro </it>and <it>in-vivo </it>passage, and found to be sufficiently stable markers that can readily identify the inoculated strain even if minor changes were detected. In the parsimony analysis with foreign <it>Brucella </it>isolates, domestic isolates were clustered distinctively, and located near the Central and Southern American isolates.</p> <p>Conclusion</p> <p>The MLVA assay has enough discrimination power in the <it>Brucella </it>species level and can be utilized as a tool for the epidemiological trace-back of the <it>B. abortus </it>isolates. But it is important to consider that <it>Brucella </it>isolates may be capable of undergoing minor changes at some loci in the course of infection or in accordance with the changes of the host.</p

    Autosomal Recessive Multiple Epiphyseal Dysplasia in a Korean Girl Caused by Novel Compound Heterozygous Mutations in the DTDST (SLC26A2) Gene

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    Multiple epiphyseal dysplasia is caused by heterogenous genotypes involving more than six genes. Recessive mutations in the DTDST gene cause a phenotype of recessive multiple epiphyseal dysplasia (rMED). The authors report a 9-yr old Korean girl with the rMED phenotype having novel compound heterozygous mutations in the DTDST gene, which were inherited from both parents. This is the first Korean rMED case attributed to DTDST mutations, and expands the spectrum of diseases caused by DTDST mutations

    Genetic Variations Mir-10Aa\u3eT, Mir-30Ca\u3eG, Mir-181At\u3eC, and Mir-499Ba\u3eG and the Risk of Recurrent Pregnancy Loss in Korean Women

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    This study investigated the genetic association between recurrent pregnancy loss (RPL) and microRNA (miRNA) polymorphisms in miR-10aA\u3eT, miR-30cA\u3eG, miR-181aT\u3eC, and miR-499bA\u3eG in Korean women. Blood samples were collected from 381 RPL patients and 281 control participants, and genotyping of miR-10aA\u3eT, miR-30cA\u3eG, miR-181aT\u3eC, and miR-499bA\u3eG was carried out by TaqMan miRNA RT-Real Time polymerase chain reaction (PCR). Four polymorphisms were identified, including miR-10aA\u3eT, miR-30cA\u3eG, miR-181aT\u3eC, and miR-499bA\u3eG. MiR-10a dominant model (AA vs. AT + TT) and miR-499bGG genotypes were associated with increased RPL risk (adjusted odds ratio [AOR] = 1.520, 95% confidence interval [CI] = 1.038−2.227, p = 0.032; AOR = 2.956, 95% CI = 1.168−7.482, p = 0.022, respectively). Additionally, both miR-499 dominant (AA vs. AG + GG) and recessive (AA + AG vs. GG) models were significantly associated with increased RPL risk (AOR = 1.465, 95% CI = 1.062−2.020, p = 0.020; AOR = 2.677, 95% CI = 1.066−6.725, p = 0.036, respectively). We further propose that miR-10aA\u3eT, miR-30cA\u3eG, and miR-499bA\u3eG polymorphisms effects could contribute to RPL and should be considered during RPL patient evaluation

    PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets

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    X-linked hypophosphatemic rickets (XLH) results from mutations in the PHEX gene. Mutational analysis of the PHEX gene in 15 unrelated Korean patients with hypophosphatemic rickets revealed eight mutations, including five novel mutations, in nine patients: two nonsense mutations, two missense mutations, one insertion, and three splicing acceptor/donor site mutations. Of these, c.64G>T, c.1699C>T, c.466_467 insAC, c.1174-1G>A, and c.1768+5G>A were novel mutations. To analyze the correlation between genotype and phenotype, phenotypes were compared between groups with and without a mutation, in terms of mutation location, mutation type, and sex. Skeletal disease tended to be more severe in the group with a mutation in the C-terminal half of the PHEX gene, but no genotype-phenotype correlation was detected in other comparisons. Further extensive studies of the PHEX gene mutations and analyses of the genotype-phenotype relationships are required to understand PHEX function and the pathogenesis of XLH

    A Case of Moyamoya Disease in a Girl with Thyrotoxicosis

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    Moyamoya disease is a cerebrovascular disorder of unknown cause, characterized by slowly progressive bilateral stenosis or occlusion of the internal carotid arteries and produces collateral vessels. Moyamoya syndrome has rarely been reported in association with Graves' disease, especially in children. Several reports suggest that a cerebral infarction might have occurred in patients with clinical and laboratory evidence of hyperthyroid function. We report a case of Moyamoya disease in a girl with Down syndrome and thyrotoxicosis, and we review the relevant literature. To our best knowledge, this is the first report of Moyamoya disease associated with thyrotoxicosis in a young person in Korea

    Classification of Metastatic versus Non-Metastatic Axillary Nodes in Breast Cancer Patients: Value of Cortex-Hilum Area Ratio with Ultrasound

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    Purpose: To investigate the significance of the cortex-hilum (CH) area ratio and longitudinal-transverse (LT) axis ratio and the blood flow pattern for diagnosis of metastatic axillary lymph nodes by ultrasound in breast cancer patients. Methods: From October 2005 to July 2006, we prospectively evaluated axillary nodes with ultrasound in 205 consecutive patients who had category 4B, 4C or 5 breast lesions according to the Breast Imaging Reporting and Data System-Ultrasound (BI-RADS-Ultrasound ®). Among the 205, there were 24 patients who had pathologic verification of breast cancer and axillary lymph node status. For a total of 80 axillary nodes we measured the areas of the cortex and hilum of lymph nodes and calculated the area ratio. We also measured the length of the longitudinal and transverse axis of the lymph nodes and calculated the length ratio. We evaluated the blood flow pattern on power Doppler imaging and classified each lymp
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