• Korean Journal of Clinical Laboratory Science
• /
• v.50 no.4
• /
• pp.422-430
• /
• 2018

The inappropriate and widespread use of quinolones in humans and animals may cause accelerated emergence and spread of antimicrobial-resistant determinants. In this study, we investigated quinolone resistance mechanisms in a total of 65 nalidixic acid-resistant E. coli isolated from swine rectal swabs (N=40) and clinical specimens (N=25). Antimicrobial susceptibilities were determined by the disk diffusion method. PCR and DNA sequencing were performed for investigations of genes and mutations associated with quinolone resistance. In our study, 62 of 65 nalidixic acid-resistant E. coli harbored mutations in gyrA, parC, and/or parE genes; of the 65 isolates, 62 (95.4%) had mutations in the gyrA gene, 35 (53.8%) had mutations in the parC gene, 7 (10.8%) had mutations in the parE gene. The 35 isolates harbored mutations in two genes, gyrA and parC. Plasmid-mediated quinolone resistance (PMQR) determinants were investigated in the 65 isolates. Thirteen of 65 nalidixic acid-resistant E. coli contained the qnrS gene and 10 of those isolates had mutations in the gyrA, parC, and/or parE genes. We confirmed that an important mechanism of quinolone resistance in E. coli isolated from human and swine involves chromosomal mutations in the gyrA, parC, and/or parE genes with increasing use of quinolone for treatment or additives.

• Journal of the Korean Institute of Intelligent Systems
• /
• v.13 no.4
• /
• pp.480-485
• /
• 2003

We Propose a Path planning method to reduce the Inspection time of AOI (automatic optical inspection) machines in SMT (surface mount technology) in-line system. Inspection windows of board should be clustered to consider the FOV (field-of-view) of camera. The number of clusters is desirable to be minimized in order to reduce the overall inspection time. We newly propose a genetic algorithm to minimize the number of clusters for a given board. Comparative simulation results are presented to verify the usefulness of proposed algorithm.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• v.13 no.1
• /
• pp.7-22
• /
• 2010

Purpose: Nodular gastritis is a characteristic finding of Helicobacter pylori infection in children. The aim of this study was to evaluate the difference in gene expression in the gastric mucosa of H. pylori-infected and non-infected children, and to analyze the difference in gene expression using cDNA microarray analysis of nodular gastritis caused by H. pylori infection. Methods: Twelve children (6 boys and 6 girls; mean age 9.8 years) who underwent upper gastrointestinal endoscopy and biopsy at Seoul National University Bundang Hospital were included in the study. The subjects were divided into three groups according to the presence of H. pylori infection and nodular gastritis on endoscopic examination. Gastric mucosa tissue was kept at $-70^{\circ}C$ and RNA was extracted to perform cDNA microarray analysis in each patient. Results: cDNA microarray analysis in children revealed a clear distinction between H. pylori-infected and non-infected gastric mucosa. Specifically, 182 over-expressed genes and 29 under-expressed genes were identified in H. pylori-infected gastric mucosa compared to non-infected mucosa. H. pylori-infected nodular gastritis revealed different gene expression patterns from H. pylori-infected normal gastric mucosa; five genes were over-expressed and five genes were under-expressed. Conclusion: In the presence of H. pylori infection, gastric mucosa shows distinct differences in gene expression, and nodular gastritis with H. pylori infection in children may be associated with over- or under-expression of some genes. Further studies are required to clarify the host response and the pathogenesis of nodular gastritis in children.

• Journal of Genetic Medicine
• /
• v.4 no.2
• /
• pp.122-127
• /
• 2007

• Proceedings of the Korean Society of Food Hygiene and Safety Conference
• /
• 2002.05a
• /
• pp.43-53
• /
• 2002

• Neonatal Medicine
• /
• v.18 no.2
• /
• pp.370-373
• /
• 2011

Citrin deficiency caused by the SLC25A13 gene mutations is associated with both neonatal-onset type II citrullinemia (CTLN2), also known as neonatal intrahepatic cholestasis caused by citrin deficiency and adult-onset CTLN2. Neonatal-onset CTLN2 is an autosomal recessive disorder characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline. A 16-days old infant with hyperammonemia was referred for evaluation of increased plasma citrulline diagnosed using tandem mass spectrometry. Blood amino acid analysis showed significant elevation of citrulline. Mild elevation in serum galactose levels had been found. DNA analysis of the SLC25A13 gene in this patient showed two novel compound heterozygous mutations, c.221C>T in exon4 and c.1645C in exon16 (p.[Ser74Phe]+[Gln549X]). We suggest that infants with a high serum citrulline level on a tandem mass screening test are candidates for gene analysis and blood amino acid analysis for neonatal-onset CTLN2.

• Journal of the Korea Convergence Society
• /
• v.10 no.6
• /
• pp.65-71
• /
• 2019

The propose of this study has been conducted to examine expression of c-Myc and Thymosin-${\beta}4$ in liver cirrhosis model from liver fibrosis and For the method of study, the experiment was conducted in 2 groups; liver cirrhosis model experiment group due to liver fibrosis and control group with distilled water. This study outcome showed that liver cirrhosis model experiment group had significantly higher expression of c-Myc and Thymosin-${\beta}4$. with changes to hepatic tissue of special staining and electron microscopy. In conclusion, in clinical tests regarding liver function, molecular evaluation of c-Myc and Thymosin-${\beta}4$ and their expression along with serological change and histological assessment can be utilized as a reference for diagnosing liver disease for prevention and diagnosis of the disease, Based on this research in the future, we will carry out an in-depth study by adding the types of experimental groups and related genes.

• Proceedings of the KSAR Conference
• /
• 2001.03a
• /
• pp.50-50
• /
• 2001

혈액형을 지배하는 유전자는 진화에 대하여 중립적인 작용을 하고 있어서 집단의 유전적 구조의 특성 파악, 계통분류학 등에 많이 응용되고 있다. 본 연구는 칡소에 대한 유전학적 특성을 구명하고자 혈액형 분석기술을 응용하여 실시하였다. 공시동물은 (주)한경게놈텍 목장에서 사육중인 외모적으로 칡소의 특징을 보이는 25두를 이용하였다. 혈액은 경정맥에서 헤파린 처리된 진공 채혈관에 무균적으로 채취하여 혈장, 백혈구 및 적혈구로 원심분리한 후 냉동 혹은 냉장 보관하여 각 실험에 이용하였다. 적혈구 항원형의 검출은 2% 적혈구 부유액과 축산기술연구소에서 생산된 항혈청 11종을 이용하여 용혈반응으로 실시하였고, 혈액단백·효소를 지배하고 있는 6개의 유전자 좌위에 대하여 전분 혹은 포리아크릴 아미드겔 전기영동으로 다형 검출을 실시하였다. 용혈반응으로 검출한 적혈구 항원형의 반응양상은 검사한 11종의 항체에 대하여 6종은 50%이상의 개체에서 양성반응을 보였다. 이와 같은 결과는 일반 한우에서 보이는 양성반응율보다는 높은 것으로 판단되어진다. 전기영동법으로 분석한 6개의 혈액단백·효소 지배 유전자 좌위 중 ALB좌위을 제외한 5개 유전자 좌위에서 다형이 관찰되었다. HB, AMY-1, GC 및 PTF-2 유전자 좌위는 2개의 대립유전자가 관찰되었고, TF 유전자 좌위는 4개의 대립유전자가 관찰되었다. 표 1에서 같이 칡소에서 관찰된 각 유전자 좌위의 대립유전자 빈도의 구성은 일반적인 한우와는 상이한 결과를 보였으나 평균 이형접합도는 칡소가 0.438, 일반한우가 0.442로 계산되어 유전적 변이성은 유사한 것으로 추정되었다. 이상의 결과로 본 연구에서 분석한 칡소는 다른 한우집단과는 상이한 유전적 구조를 가지고 있으나, 유전적 다형성은 비교적 높은 것으로 시사되었다. 보다 정확하고 많은 량의 유전정보 수집을 위하여 Microsatellite DNA 및 모색 관련 유전자를 분석할 필요성이 있을 것으로 사료된다.(Table Omitted)

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.15 no.1
• /
• pp.1-8
• /
• 2015

Purpose: 3-methylcrotonyl CoA carboxylase deficiency (3MCCD) is leucine metabolic disorder caused by mutation in MCCC1 or MCCC2 gene. Clinical manifestations are variable, ranging from fatal neonatal onset to asymptomatic individuals. There is no retrospective study of Korean patients undergoing long-term treatment for 3MCCD. We reported this study to find out clinical symptoms and gene analysis of 3MCCD patients. Methods: This study was based on data of patients diagnosed with 3MCCD in Soonchunhyang university hospital between April 2009 and September 2013. We report clinical, enzymatic and mutation data of 3MCCD patients found by newborn screening. Results: In tandem mass spectrometry, 3-OH-isovalerylcarnitine (C5OH) of all patients increased. And all 7 patients were elevated 3-methylcrotonylglycine (3MCG) and 3-hydroxyisovaleric acid (3HIVA) in urine. MCCC mutation was identified in 2 patients and MCCC2 was mutated in 5 patients. We found mutation occurred in 8 different parts of nucleotide and such mutation caused 7 different types of changes in amino acid. All patients are on medication of L-carnitine and L-glycine. 4 patients are taking biotin. And 4 patients are eating leucine free formula. After starting treatment, there were no significant changes of urine 3MCG and 3HIVA levels. Conclusions: According to our data, MCCC2 gene mutation was more common than MCCC1 gene mutation. But the level of 3HIVA or 3MCG in urine has no correlation with phenotype. All patients has no symptoms and are shown normal development.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.23 no.1
• /
• pp.25-30
• /
• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.