• Journal of Genetic Medicine
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• 제11권2호
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• pp.63-68
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• 2014

Purpose: The mutation of the SLC26A4 gene is the second most common cause of congenital hearing loss after GJB2 mutations. It has been identified as a major cause of autosomal recessive nonsyndromic hearing loss associated with enlarged vestibular aqueduct and Pendred syndrome. Although most studies of SLC26A4 mutations have dealt with hearing-impaired patients, there are a few reports on the frequency of these mutations in the general population. The purpose of this study was to evaluate the prevalence of SLC26A4 mutations that cause inherited deafness in the general Korean population. Materials and Methods: We obtained blood samples from 144 Korean individuals with normal hearing. The samples were subjected to polymerase chain reaction to amplify the entire coding region of the SLC26A4 gene, followed by direct DNA sequencing. Results: Sequencing analysis of this gene identified 5 different variants (c.147C>G, c.225G>C, c.1723A>G, c.2168A>G, and c.2283A>G). The pathogenic mutation c.2168A>G (p.H723R) was identified in 1.39% (2/144) of the subjects with normal hearing. Conclusion: These data provide information about carrier frequency for SLC26A4 mutation-associated hearing loss and have important implications for genetic diagnostic testing for inherited deafness in the Korean population.

• Health Policy and Management
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• 제27권2호
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• pp.114-120
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• 2017

The hospital standardized mortality ratio (HSMR) is a widely used generic measure for assessing quality of hospital care in many countries. However, the validity of HSMR as a quality indicator is still controversial. We critically reviewed characteristics of HSMR and suggested how to use HSMR as a quality indicator in the Korean setting. The association between HSMR and other quality measures of hospital care is inconclusive. In addition current HSMR model has shortcomings in risk adjustment because of the lack of clinical data, accuracy of disease coding, coding variation among hospitals, end-of-life care issues, and so on. Therefore, HSMR should be used as an indicator for improvement, not for judgement such as public reporting and pay-for-performance. More efforts will be needed to tackle practical and methodological weaknesses of HSMR in the Korean setting.

• Journal of Pharmacopuncture
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• 제14권4호
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• pp.63-69
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• 2011

Objectives: This study was to investigate the clinical effect of additional Jungsongouhyul Pharmacopuncture on radial nerve palsy patients. Methods & Results: The patients were hospitalized or outpatients in Department of traditional korean medical hospital, Dongshin University from 28th, Oct. 2009 to 25th, Aug, 2010. All patients were treated by additional Jungsongouhyul Pharmacopuncture. To evaluate the wrist drop and numbness of fingers, coding result, Verbal numerical scale (VNS) were used. As the result, symptoms are improved remarkably according to improvement of coding result, VNS score. Conclusions: Patients were treated during 3.5 weeks in average. All cases were excellent results by additional Jungsongouhyul Pharmacopuncture. But further studies are required to investigate exact effects.

• Genomics & Informatics
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• 제16권4호
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• pp.23.1-23.5
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• 2018

Virus taxonomy was initially determined by clinical experiments based on phenotype. However, with the development of sequence analysis methods, genotype-based classification was also applied. With the development of genome sequence analysis technology, there is an increasing demand for virus taxonomy to be extended from in vivo and in vitro to in silico. In this study, we verified the consistency of the current International Committee on Taxonomy of Viruses taxonomy using an in silico approach, aiming to identify the specific sequence for each virus. We applied this approach to norovirus in Caliciviridae, which causes 90% of gastroenteritis cases worldwide. First, based on the dogma "protein structure determines its function," we hypothesized that the specific sequence can be identified by the specific structure. Firstly, we extracted the coding region (CDS). Secondly, the CDS protein sequences of each genus were annotated by the conserved domain database (CDD) search. Finally, the conserved domains of each genus in Caliciviridae are classified by RPS-BLAST with CDD. The analysis result is that Caliciviridae has sequences including RNA helicase in common. In case of Norovirus, Calicivirus coat protein C terminal and viral polyprotein N-terminal appears as a specific domain in Caliciviridae. It does not include in the other genera in Caliciviridae. If this method is utilized to detect specific conserved domains, it can be used as classification keywords based on protein functional structure. After determining the specific protein domains, the specific protein domain sequences would be converted to gene sequences. This sequences would be re-used one of viral bio-marks.

• Journal of Sasang Constitutional Medicine
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• 제24권2호
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• pp.47-53
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• 2012

1. Objectives : The aim of the present study was to describe the Korea Constitutional Multicenter Bank (KCMB), which was various clinical data bank for scientific advancement of constitutional diagnosis and treatment. 2. Methods and Results : The KCMB is based on the 28 multi-institute cooperative clinical research networks including domestic and international institute. Since the KCMB was founded in 2006, data have been accumulated from 10,412 subjects. The KCMB consists of three parts: The clinical constitutional data, the measurement data, and the biological data. The method of data entry is via web based electronic Case Report From (eCRF). The eCRF has been developed and programed to ensure the efficient entry of data. We also developed coding manual, ongoing quality control assessment to obtain high-quality data. 3. Conclusions : The KCMB with various data contribute to providing the scientification of Sasang Constitutional Medicine.

• Biomedical Science Letters
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• 제26권1호
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• pp.22-27
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• 2020

Tuberculosis is airborne disease caused by Mycobacterium tuberculosis (MTB). Host genetic factors of these tuberculosis play an important role in determining individual difference in susceptibility or resistance to infectious diseases including tuberculosis. CD247 is named CD3zeta chain or CD3ζ. CD247 gene is a protein-coding gene involved in phagocytosis and signal transduction of the T cell receptor (TCR). Also, downregulation of the CD3ζ chain has been associated to chronic inflammation. The aim of this study was to research association of the genetic polymorphisms for CD247 gene and tuberculosis. We analyzed association of CD247 and Mycobacterium tuberculosis using 149 imputed single nucleotide polymorphisms (SNPs) with Korean population. And the results of this study show that seven SNPs of CD247 were identified to associate with tuberculosis. The most significant SNP was rs858545 (OR=1.22, CI: 1.05~1.42, P=0.009481). This study suggests that polymorphisms of CD247 may affect the T cell receptor signaling pathway, which may associate the infection of tuberculosis.

• Experimental and Molecular Medicine
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• 제50권12호
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• pp.7.1-7.14
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• 2018

Dysregulation of long noncoding RNA (lncRNA) expression is linked to the development of various diseases. Recently, an emerging body of evidence has indicated that lncRNAs play important roles in the pathogenesis of inflammatory bowel diseases (IBDs), including Crohn's disease (CD) and ulcerative Colitis (UC). In IBD, lncRNAs have been shown to be involved in diverse processes, including the regulation of intestinal epithelial cell apoptosis, association with lipid metabolism, and cell-cell interactions, thereby enhancing inflammation and the functional regulation of regulatory T cells. In this review, we aim to summarize the current knowledge regarding the role of lncRNAs in IBD and highlight potential avenues for future investigation. We also collate potentially immune-relevant, IBD-associated lncRNAs identified through a built-by association analysis with respect to their neighboring protein-coding genes within IBD-susceptible loci. We further underscore their importance by highlighting their enrichment for various aspects of immune system regulation, including antigen processing/presentation, immune cell proliferation and differentiation, and chronic inflammatory responses. Finally, we summarize the potential of lncRNAs as diagnostic biomarkers in IBD.

• Korean Journal of Microbiology
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• 제54권4호
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• pp.442-444
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• 2018

Recently, we isolated a multidrug-resistant Escherichia coli strain KBN10P04869 from a patient with acute myeloid leukemia. We report the complete genome of this strain which consists of 5,104,264 bp with 4,457 protein-coding genes, 88 tRNAs, and 22 rRNAs, and the co-occurrence of multidrug- resistant genes including $^{bla}CMY-2$, $^{bla}TEM-1$, $^{bla}CTX-M-15$, $^{bla}NDM-5$, and $^{bla}OXA-18$.

• Journal of Korean Neurosurgical Society
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• 제53권2호
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• pp.72-76
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• 2013

Objective : Cerebral aneurysm (CA) is an important acquired cerebrovascular disease that can cause catastrophic results. MicroRNAs (miRNAs) are small non-coding RNAs, playing essential roles in modulating basic physiologic and pathological processes. Currently, evidences have been established about biologic relationship between miRNAs and abdominal aortic aneurysms. However, biologic roles of miRNAs in CA formation have not been explained yet. We employed microarray analysis to detect and compare miRNA expression profiles in late stage of CA in rat model. Methods : Twenty-six, 7-week-old male Sprague-Dawley rats underwent a CA induction procedure. The control animals (n=11) were fed a normal diet, and the experimental animals (n=26) were fed a normal diet with 1% normal saline for 3 months. Then, the rats were sacrificed, their cerebral arteries were dissected, and the five regions of aneurysmal dilation on the left posterior communicating artery were cut for miRNA microarrays analysis. Six miRNAs (miRNA-1, miRNA-223, miRNA-24-1-5p, miRNA-551b, miRNA-433, and miRNA-489) were randomly chosen for validation using real-time quantitative PCR. Results : Among a set of differentially expressed miRNAs, 14 miRNAs were over-expressed more than 200% and 6 miRNAs were down-expressed lower than 50% in the CA tissues. Conclusion : The results show that miRNAs might take part in CA formation probably by affecting multiple target genes and signaling pathways. Further investigations to identify the exact roles of these miRNAs in CA formation are required.

• Clinical and Experimental Pediatrics
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• 제48권11호
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• pp.1252-1255
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• 2005

Abnormalities in the levels of thyroxine-binding globulin (TBG) are not associated with clinical disease and they do not require treatment. Congenital TBG deficiency is inherited in an X-linked manner. To date, some complete and partial TBG variants and one polymorphism have been identified by analysis of the TBG gene. Two male neonates were referred to us because of their low $T_4$ levels that were noted on the neonatal screening test. They showed normal levels of free $T_4$ and TSH. Their serum TBG was not detectable and those values of their parents were within the normal ranges. The genomic DNA was extracted from their white blood cells and the four coding exons of the TBG gene were amplified by using polymerase chain reaction. Sequencing of the four coding regions and all the intron/exon junctions revealed a single nucleotide deletion of the first base of the codon 352 of the mature protein in both of the neonates. This mutation resulted in a frameshift and a premature stop codon (TGA) 374. Their mothers were shown to be heterozygotes. We detected a single nucleotide deletion resulting in a frameshift in two male Korean neonates who had complete TBG deficiency.