• Journal of Genetic Medicine
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• v.11 no.2
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• pp.69-73
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• 2014

Purpose: Spinocerebellar ataxia (SCA) is a genetically heterogeneous disease for which more than 30 subtypes have been identified. However, 5 subtypes, SCA1, SCA2, SCA3, SCA6, and SCA7, account for more than 60% of cases. In this study, we report the distribution of these 5 subtypes in Korean patients. Materials and Methods: Six hundred and thirty-eight unrelated patients with a presumptive diagnosis of SCA were included in this study. Trinucleotide (CAG) repeat number (TNR) repeat number was determined using fluorescently labeled primers and fragment analysis. Results: A total of 128 unrelated patients (20.1% of all individuals tested) tested positive for SCA subtypes, including SCA1 (5 patients, 3.9% of those testing positive), SCA2 (38 patients, 29.7%), SCA3 (30 patients, 23.4%), SCA6 (39 patients, 30.5%), and SCA7 (16 patients, 12.5%). The mean copy number of pathogenic TNR alleles was $45{\pm}8.5$ for SCA1, $42{\pm}3.1$ for SCA2, $72{\pm}5.4$ for SCA3, $23{\pm}1.5$ for SCA6, and $50{\pm}11.4$ for SCA7. TNR copy number was inversely correlated with onset age in SCA2, SCA6, and SCA7. Conclusion: SCA2, SCA3, and SCA6 are common SCA subtypes in Korean patients and could be screened as a first-line test. Expanded pathogenic allele size was associated with early onset age.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.2
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• pp.459-462
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• 2012

Expression of estrogen-receptor (ER), progesterone-receptor (PR) and HER-2 has recently been linked with various breast cancer subtypes identified by gene microarray. This study aimed to document breast cancer subtypes based on ER, PR and HER-2 status in Thai women, where expression of these subtypes may not be similar to those evident in Western women. During 2009 to 2010, histological findings from 324 invasive ductal carcinomas (IDC) at Siriraj Hospital were studied. Various subtypes of IDC were identified according to expression of ER, PR and HER-2: luminal-A (ER+;PR+/-;HER-2-), luminal-B (ER+;PR+/-;HER-2 +), HER-2 (ER-;PR- ;HER-2+) and basal-like (ER-;PR-;HER-2-). As well, associations of tumor size, tumor grade, nodal status, angiolymphatic invasion (ALI), multicentricity and multifocality with different breast cancer subtypes were studied. Of 324 IDCs, 143 (44.1%), 147 (45.4%), 15 (4.6%) and 12 (3.7%) were T1, T2, T3 and T4, respectively. Most tumors were grade 2 (54.9%) and had no nodal involvement (53.4%). According to ER, PR and HER-2 status, 192 (59.3%), 40 (12.3%), 43 (13.3%) and 49 (15.1%) tumors were luminal-A, luminal-B, HER-2 and basal-like subtypes. HER-2 subtype presented with large tumor (p=0.04, ANOVA). Luminal-A IDC was associated with single foci (p<0.01, ${\chi}^2$). HER-2 and basal-like subtypes were likely to have high tumor grade (p<0.01, ${\chi}^2$). In addition, HER-2 subtype had higher number of nodal involvement (p=0.048, ${\chi}^2$). In conclusion, the luminal-A subtype accounted for the majority of IDCs in Thai women. Percentages of HER-2 and basal-like IDCs were high, compared with a recent study from the USA. The HER-2 subtype was related with high nodal invasion. The findings may highlight biological differences between IDCs occurring in Asian and Western women.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.15
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• pp.6151-6154
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• 2014

A growing body of literature is evidence that identifying subtypes of high-risk human papillomavirus (HR-HPV) has impacted on various steps of cervical cancer prevention.Thus, it is mandatory to determine the background prevalence and distribution of HPV subtypes for designing and implementing area-specific management. The present study was conducted to evaluate prevalence and distribution of HPV subtypes among women aged 30-70 years living in Lampang, an area with a high incidence of cervical cancer, through use of a mobile screening unit. Of 2,000 women recruited in this study, 108 (5.40%, 95%CI: 4.45-6.48) were found to have HR-HPV infection. Risk was significantly correlated with age and number of partners. Singly or in combination, the most common genotype was HPV 52 (17.6%), followed by HPV 16 (14.81%), HPV 58 (13.89%), HPV 33 (11.11%), HPV 51 (11.11%), and HPV 56 (9.26%). HPV 18 was found in only 5.6% of cases. Together, HPV 16/18 were noted in approximately 20.4% of cases. Eighteen(16.67%) women were positive with multiple subtypes of HR-HPV. Co-infection most frequently involved HPV 16 or HPV 58. These findings have obvious implications for vaccine policy.

• Korean Journal of Veterinary Service
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• v.40 no.1
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• pp.15-20
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• 2017

A two-tube reverse transcription loop-mediated isothermal amplification (RT-LAMP) assay was designed for the rapid visual detection of the M gene of all subtypes of avian influenza virus (AIV) and the H5 gene of the H5 subtype of highly pathogenic AIV (HPAIV). The reaction carried out in two tubes in a single step at $58^{\circ}C$ for 40 min, and the assay results could be visually detected by using hydroxynaphthol blue dye. Using M or H5 gene-specific primers, the assay successfully detected all subtypes or H5 subtypes of AIVs, including the Korean representative H5N1 and H5N8 HPAIVs. The detection limit of the assay was approximately $10^{2.0}$ $EID_{50}/reaction$ for the M and H5 genes of H5N1 HPAIV, respectively, and was more sensitive than that of previously reported RT-LAMP and comparable to that of real-time RT-PCR. These results suggest that the present RT-LAMP assay, with its high specificity, sensitivity, and simplicity, will be a useful diagnostic tool for surveillance of currently circulating H5 HPAIVs and other subtypes of AIV in bird population, even in under-equipped laboratories.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.21
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• pp.9379-9383
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• 2014

Background: Pathologic complete response (pCR) is one of the most important target end-points of neoadjuvant chemotherapy (NACT) in patients with breast cancer (BC). In present study, we aimed to investigate the relationship between molecular subtypes and NACT in patients with BC. Materials and Methods: Using the Akdeniz University database, 106 patients who received NACT for operable breast cancer were retrospectively identified. Prognostic factors before and after NACT were assessed. According to the molecular subtypes, molecular shifting after NACT and tumoral and nodal response to NACT were analyzed. Results: The distribution of subtypes was: Luminal A, 28.3% (n=30); Luminal B, 31.1% (n=33); HER2-like, 24.5% (n=26); and basal like/triple negative (BL/TN), 16.0% (n=17). According to molecular subtypes, pCR rates in both breast and axillary were 0%, 21.4%, 36.4% and 27.3% for luminal A, luminal B, HER2-like and BL/TN, respectively (p=0.018). Molecular subtype shifting was mostly seen in luminal A type (28.6%) after the NACT. The pCR rate in breast and axillary was significantly higher in patients with HER2-like type BC. Conclusions: In patients with HER-2 like type BC, NACT may be offered in early stages. Additionally, due to molecular shifting, adjuvant treatment schedule should be reviewed again, especially in the luminal A group.

• Korean Journal of Veterinary Research
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• v.39 no.5
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• pp.995-1005
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• 1999

Staphylococcus aureus is one of most prevalent intramammary pathogens and have characteristics which are not easily eradicated. Recently, to understand the sources and transmission of S aureus, many studies have focused on the subtyping of field isolate. This study was preformed to investigate the distribution pattern and characteristics of the isolates using phenotyping and genotyping. Samples were collected from milk of each udder, cow bodies (perianal region, vagina, tail, udder skin, sole) and environment (floor, liner, milker's hands, water, towel, insect) from 6 herds located in Kyung-gi province. Forty five strains of S aureus were isolated from 3 dairy herds (A, B, C) and were typed by hemolytic pattern, antibiotic resistant pattern, enterotoxin typing and PCR-based DNA fingerprinting. Slime productivity was also compared by each subtype to examine potential infectiousness. Of 45 strains, 41 were isolated from milk samples and 4 were isolated from liners. No strains isolated in the bodies and environment. Forty five strains isolated were classified as 18 subtypes by phenotyping and genotyping. There was common subtype between A and B herd, but the subtype of C herd showed different pattern. Among predominant subtypes, 60% of S aureus strain isolated from A and B herd showed subtype I and 50% of S aureus strain isolated from C herd belonged to subtype VI and X II. Neither somatic cell count (SCC) nor slime production was significantly different between predominant and minor subtypes. In summary, the study revealed that liners play more important roles in the mode of transmission than environmental sources. Several subtypes can be found in a herd, only a few subtype, however, was largely associated with the majority of infection.

• The Journal of Korean Medicine
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• v.28 no.4
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• pp.1-7
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• 2007

Objectives : This study investigated stroke types, ischemic stroke subtypes, risk factors for stroke, stroke complications and Sasang constitutions in both sexes. Methods : 307 patients with acute stroke within 14 days onset were included, who were admitted to Kyunghee Oriental Medical Center from October 2005 to May 2007. Stroke types, ischemic stroke subtypes, risk factors for stroke, stroke complications and Sasang constitutions in both sexes were examined. Results : Mean age was higher among women than men (64.82${\pm}$10.21 years versus 62.18${\pm}$11.52 years for the 137 female and 170 male patients, respectively, p=0.037). There were no significant differences in stroke type, ischemic stroke subtypes, or stroke risk factors except smoking and Sasang constitutions. Current smoking was more frequent in male patients (p<0.001). Stroke complications, especially urinary tract infection (UTI), were significantly more common in women (p=0.002). Conclusion : Sex does not seem to influence stroke types, ischemic stroke subtypes, or stroke risk factors except current smoking and Sasang constitutions. UTI should be taken into consideration to manage female stroke patients. Smoking cessation is indicated to prevent stroke in men.

• Animal cells and systems
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• v.4 no.1
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• pp.63-70
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• 2000

The distribution of receptor subtypes for endothelin (ET) in the kidney of the freshwater turtle, Amyda japonica, was examined by quantitative in vitro receptor autoradiography using iodinatd mammalian type ET-1 ($^125$/I-ET-1)as a radiolabeled ligand. Specific $^125$/I-ET-1 bindings were localized to renal tubules, renal arteries and ureter with binding densities of 111.21 $\pm$ 19.14, 182.13$\pm$10.57 and 219.46$\pm$12.83 amol/$mm^2$. respectively. Binding dissociation constants in renal tubules, renal arteries and ureter were 1.05 $\pm$ 0.63, 2.03 $\pm$0.56 and 1.70$\pm$0.47nM, respectively. Receptor subtypes for ET in the kidney were characterized by competition with BQ 123 and BQ 788 as specific antagonists for ET receptors, type A (ET$_A$ ), and type B (ET$_B$) subtypes, respectively. Specific $^125$/I-ET-1 bindings in renal arteries and ureter were potently inhibited by BQ 123 in a dose-dependent manner, whereas BQ 788 was not in competing for specific $^125$/I-ET-1 bindings in this structure. However, specific $^125$/I-ET-1 bindings in renal tubules were inhibited more potently by BQ 788. Therefore, these results indicate that specific ET receptors are localized in renal tubules, renal arteries and the ureter of the freshwater turtle. Results also suggest that the predominant ET receptor subtypes are like the ETA receptor in renal arteries and ureter, and like the ET/$_A$ receptor in the renal tubule.

• Genomics & Informatics
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• v.11 no.4
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• pp.239-244
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• 2013

Somatic mutation is a major cause of cancer progression and varied responses of tumors against anticancer agents. Thus, we must obtain and characterize genome-wide mutational profiles in individual cancer subtypes. The Cancer Genome Atlas database includes large amounts of sequencing and omics data generated from diverse human cancer tissues. In the present study, we integrated and analyzed the exome sequencing data from ~3,000 tissue samples and summarized the major mutant genes in each of the diverse cancer subtypes and stages. Mutations were observed in most human genes (~23,000 genes) with low frequency from an analysis of 11 major cancer subtypes. The majority of tissue samples harbored 20-80 different mutant genes, on average. Lung cancer samples showed a greater number of mutations in diverse genes than other cancer subtypes. Only a few genes were mutated with over 5% frequency in tissue samples. Interestingly, mutation frequency was generally similar between non-metastatic and metastastic samples in most cancer subtypes. Among the 12 major mutations, the TP53, USH2A, TTN, and MUC16 genes were found to be frequent in most cancer types, while BRAF, FRG1B, PBRM1, and VHL showed lineage-specific mutation patterns. The present study provides a useful resource to understand the broad spectrum of mutation frequencies in various cancer types.

• Korean Journal of Schizophrenia Research
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• v.24 no.1
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• pp.8-16
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• 2021

Objectives: Although the characteristics of different aggression subtypes provide important information in establishing treatment and prevention strategies in schizophrenia patients, limited information is available about the characteristics of the aggressive subtype in schizophrenia patients in South Korea. The present study was designed to compare the demographic and psychological characteristics across the impulsive and premeditated aggression subtypes in schizophrenia patients in South Korea who had committed a crime. Methods: We enrolled 116 schizophrenia spectrum disorder patients who were admitted to the National Forensic Psychiatric Hospital. Using the criminal and interview records, the study subjects were divided into 83 impulsive and 33 premeditated aggression groups. The subjects' demographic and psychological characteristics were summarized and compared across aggression subtypes. Results: Compared to the premeditated aggression group, the impulsive aggression group had a higher intelligent quotient and a lower rate of physical and sexual abuse experience. Conclusion: To our knowledge, this is the first study to describe the characteristics of aggression subtypes in schizophrenia patients in South Korea who had committed a crime. Our results suggest that different treatment and prevention strategies should be considered for each aggression subtype.