• Journal of Food Hygiene and Safety
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• v.25 no.3
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• pp.220-225
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• 2010

Distribution of foodborne E. coli strains, antimicrobial resistant genes and antimicrobial susceptibility have been carried out on E. coli isolated from commercial and cooked foods distributed food in Seoul. Of total 1,313 samples, fifty samples(3.8%) were found E. coli that included one of the ETEC and EPEC, respectively. The serotype of ETEC in seasoning raw meat was E. coli O26 and produced Verotoxin 2. Fifty percentage of total isolates were susceptible to all antimicrobial agents. Specially, there were ampicillin(36%), amoxicillin/clavulanic acid(32%) and tetracycline(22%) etc. Resistant gene (tetB) were found in four tetracycline resistant E. coli strains, and TEM gene was found in one ampicillin resistant E. coli isolate.

• Journal of Medicine and Life Science
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• v.17 no.3
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• pp.94-97
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• 2020

Ultrasonography is used to examine gross or microscopic hematuria without side effects. It is one of the methods of diagnosing bladder lesions, but in some cases, the lesions are not found. We attempted to identify the problems during the ultrasonic examination by analyzing the symptoms, location of lesion, and medical history of urothelial cancer for cases of undetected bladder lesions. Thirty-three patients who underwent transurethral resection of a bladder tumor from January 1 to May 4, 2018 in one hospital were enrolled in this study. Patients who underwent preoperative ultrasonography and cystoscopy were treated. Ultrasonography did not detect bladder lesions in five patients. The size of the lesion was 0.5~2.5 cm in various locations, such as the side, front, and so on. Ultrasonic examination requires more attention if there is gross hematuria or a history of urothelial cancer, and it is necessary to detect recurrence by conducting cystoscopy at the same time, especially when there are lesions on the anterior wall of the bladder.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.2
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• pp.48-54
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• 2017

Purpose: Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal-recessive disorder characterized by early-onset hypotonia associated with brain malformations in dystroglycanopathy. Although the wide spectrum of congenital muscular dystrophies causes difficulty in diagnosis, correlating the genotype with the clinical phenotype can help diagnose FCMD. Here, we evaluated the correlation of targeted molecular genetic analysis of FKTN gene mutation with the FCMD phenotype. Methods: This study was conducted retrospectively with 9 subjects. Inclusion criteria included clinical symptoms characterized by early-onset hypotonia with magnetic resonance imaging (MRI) featuring brain malformations. FKTN gene-alteration analysis was performed using various FKTN gene-analysis methods, including sequencing. Results: Among the 9 subjects studied, 4 (44.4%) were male and 5 (55.6%) were female. The median age of onset of the first symptom was 3.1 months. The first symptom was a delayed milestone in 6 cases (66.7%). All 9 subjects (100%) presented with early-onset hypotonia and global delayed development. All subjects presented with cortical malformation in their brain MRIs. Of the 9 subjects, 6 subjects had previously undergone muscle biopsy and 4 cases (4/6; 66.7%) showed dystrophic or myopathic features. Pathogenic mutations causing FCMD were identified in 3 cases. Conclusions: In this study, all 3 subjects with FKTN mutations showed important MRI findings (pachygyria and cerebellar dysplasia). These data suggest that patients with characteristic phenotypes who show pachygyria and cerebellar abnormalities in brain MRIs may have a high probability of being diagnosed with FCMD.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.103-108
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• 2017

Kabuki syndrome is a rare congenital disorder that causes multiple birth defects and mental retardation. Mutation of the lysine methyltransferase 2D (KMT2D) gene is the primary cause of Kabuki syndrome. We report a 4-year-old Korean girl diagnosed with Kabuki syndrome based on distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows, depressed nasal tip, prominent ears), skeletal anomalies, short stature, and molecular analysis, which revealed a novel frameshift mutation in the KMT2D gene. A 4-year-old patient had a past history of congenital cardiac malformations (coarctation of the aorta, ventricular septal defect, atrial septal defect, patent ductus arteriosus), subclinical hypothyroidism and dysmorphic features at birth including webbed neck, short fingers, high arched palate, micrognathia and horseshoe kidney. She showed unique facial features such as a long palpebral fissure, long eyelashes, arched eyebrows with sparseness of the lateral third, broad nasal root, anteverted ears, and small mouth. Her facial features suggested Kabuki syndrome, and genetic analysis discovered a novel heterozygous frameshift mutation (c.4379dup, p.Leu1461Thrfs*30) in exon 15 of the KMT2D gene. The diagnosis of our 4-year-old patient was made through thorough physical examination and history taking, and genetic testing. It is challenging to diagnose patients with Kabuki syndrome at birth, since the characteristic facial features are expressed gradually during growth. Clinical suspicion aroused by regular follow-ups may lead to earlier diagnosis and interventions.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.23-34
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• 2012

Purpose: Acute symptomatic seizures are caused by structural changes, inflammation or metabolic changes of brain, such as tumor, stroke, meningitis, encephalitis and metabolic disorders. Inherited metabolic disorders that can cause seizures are organic acidopathies, lysosomal storage disorders, peroxisomal disorders and mineral disorders. We have done this study to find out the importance of organic acidopathies causing seizure disorders in Korean childhood and adolescent patients. Method: Retrograde analysis for 1,306 patients with seizure disorders whose clinical informations are available and have done urine organic acid analysis for 5 years period, between Jan. 1st 2007 to Dec. 31th 2011. Statistical analysis was done with Student's t test using SPSS. Result: Out of 1,306 patients, 665 patients (51%) showed abnormalities on urine organic acid analysis. The most frequent disease was mitochondrial respiratory chain disorders (394, 30.1%), followed by mandelic aciduria (127, 9.7%), ketolytic defects (81, 6.2%), 3-hydroxyisobutyric aciduria (19, 1.4%), glutaric aciduria type II (10, 0.8%), ethylmalonic aciduria (4), propionic aciduria (4), methylmalonic aciduria (3), glutaric aciduria type I (3), pyruvate dehydrogenase deficiency (3), pyruvate carboxylase deficiency (3), isovaleric aciduria (2), HMG-CoA lyase deficiency (2), 3-methylcrotonylglycinuria (2), fatty acid oxidation disorders (2), fumaric aciduria (1), citrullinemia (1), CPS deficiency (1), MCAD deficiency (1). Conclusion: On neonatal period, mandelic aciduria due to infection was found relatively frequently. Mitochondrial disorders are most frequent etiologic disease on all age group, followed by ketolytic defects and various organic acidopathies. The number and diversities of organic acidopathies emphasize meticulous evaluation of basic routine laboratory examinations and organic acid analysis with initial sample on every seizure patient.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.87-94
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• 2018

We present the case of long-term observation of a patient with chronic kidney disease (CKD) caused by advanced focal segmental glomerulosclerosis (FSGS) resulting from underlying congenital chloride diarrhea (CLD). A 20-year-old woman was admitted for prolonged proteinuria despite conservative treatment for CLD. She was diagnosed with CLD and started taking KCl salt supplementation from the time of birth. Mild proteinuria was first found at 12 years of age, which progressed to moderate proteinuria at 16 years of age. At 16 years of age, CKD stage 2 with FSGS was diagnosed based on the initial assessment of the glomerular filtration rate (GFR) and kidney histology. On admission, we re-assessed her renal function, histology and genetic analysis. GFR had deteriorated to CKD stage 4 and renal histology revealed an advanced FSGS combined with tubulointerstitial fibrosis. A homozygous mutation in the SLC26A3 gene (c.2063-1G>T) was found by diagnostic exome sequencing and may have been inherited from both parents. CLD patients can be more vulnerable to renal injury, which may also cause progression of renal failure. Therefore, even if there is an early diagnosis and adequate salt supplementation, close monitoring of renal function and tailored treatment should be emphasized for renal protection and favorable CLD prognosis.

• Journal of Radiation Protection and Research
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• v.37 no.3
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• pp.159-166
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• 2012

The present study was performed to investigate the toxicity of low-dose-rate irradiation in BALB/c mice. Twenty mice of each sex were randomly assigned to four groups of five mice each and were exposed to 0 (sham), 0.02, 0.2, or 2 Gy, equivalents to low-dose-rate irradiation to 3.49 $mGy{\cdot}h^{-1}$. Urine, blood, and blood biochemistry were analyzed, and organ weight was measured. The low-dose-rate irradiation did not induce any toxicologically significant changes in mortality, clinical signs, body weight, food and water consumption, urinalysis, and serum biochemistry. However, the weights of reproductive organs including the testis, ovary, and uterus decreased in a dose-dependent manner. Irradiation at 2 Gy significantly decreased the testis, ovary, and uterus weights, but did not change the weights of other organs. There were no adverse effects on hematology in any irradiated group and only the number of neutrophils increased dose dependently. The low-dose-rate irradiation exposure did not cause adverse effects in mice at dose levels of 2 Gy or less, but the reproductive systems of male and female mice showed toxic effects.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1991.06a
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• pp.28-28
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• 1991

후두암의 수직절제 수술후의 후두 재건 목적은 기관절개를 통하지 않고 후두를 통한 호흡이 가능하도록 하면서 연하시 기도흡인을 피하기 위한 sphincter 능력의 보존, 그리고 발성이 가능하도록 성대진동 mechanism을 재건하는데 있다. 오늘날 수많은 후두학자들에 의해서 고안 개발된 다양한 재건 방법이 있다. 연자는 광범위한 후두절제에 따른 큰 결손을 메우기 위해 bulky하면서도 점막 상피의 재생이 용이한 재건 피판으로 흉유돌근골막 피판을 이용하여 후두 결손부를 재건하여 보았다. 방법은 성견 3마리를 대상으로하여 thiopental sodium 정맥주사로 전신마취를 시행한 후 설골에서부터 흉골상까지 경부 정중앙의 피부를 절개하고 후두를 노출시켜 후두 수직절제술을 시행하였다. 흉유돌근과 흉골에 부착된 골막을 박리하여 흥유돌근골막 피판을 제작한 후 골막이 후두강 안쪽으로 되도록하여 골막연과 후두점막을 봉합하였다. 그리고 3, 5, 9개월에 후두적출술을 시행하여 병리조직학적 및 수술후 경과를 관찰하였다. 3실험견 모두 기관절개술 없이 후두를 통한 호흡이 가능하였고 흡입성 폐렴이나 피하기종등의 합병증없이 창상이 치유되었으며 발성도 양호하였다. 이식된 골막위로 신생혈관의 출현과 함께 점막재생이 잘되 있었다. 단지 봉합사 주위에 소량의 육아종이 관찰되었다. 조직학적으로는 섬유조직위로 편평상피가 재생되었으며 성문하부에서는 일부 섬모가 있는 호흡기 점막도 관찰되고 골막하부에 신생골 형성은 관찰할 수 없었다. 골막 피판은 그 유연성 때문에 결손부위의 점막연에 맞춰도 tension이 없고 공기 누출이 되지 않게 봉합이 가능할 뿐 아니라 점막이 재생할 수 있는 frame-work의 역할을 하는 것으로 사료되었다. 이상과 같은 사실로 미루어 흉유돌근 자체가 견실하고 골막에 혈류공급이 잘되어 창상치유에 좋을 뿐 아니라 큰 후두결손부의 재건이 가능하리라고 사료되었다.로서 몇가지 앞으로의 치료지침에 도움이 되는 결과를 얻었기에 보고하는 바이다. 1) 성별 분포는 남자 16(39 %), 여자 25 (61%)이었으며 1 : 1.5의 빈도를 보였다. 2) 연령 분포는 20대와 30대에서 남녀 모두 25명으로 대부분을 차지하였다. 3) 부식제의 종류는 빙초산이 26명 (63.4 %)으로 대부분을 차지하였고 염산 7 (17.1 %) Lye 3 (0.7 %) 의 순이었다. 4) 음독후 12시간내에 식도경술을 받은 환자가 3명(0.7 %) 12-24시간에 받은 환자가 17명(41.5 %), 24 - 48시간에 받은 환자가 11명(26. 8%)으로 48시간 내에 시행받은 환자가 전체의 75.6%를 차지하였다. 5) 식도경 검사상 나타난 식도화상은 Grade I 11명 (26.8%) G.ade II 18(43.9%) Grade III 7명(17.1%) 이었으며 Grade II 인 경우가 18명(43.9%)로 가장 많았으며 Grade I 11명(26.8 %), Grade III 7명 (17.1 %) Normal 5명 (12.2 %) 순이었다. 6) 조기 식도경 검사에서 41명중 oral cavity burn이 없었던 경우가 15명(36. 1 %) 이었으며, oral cavity burn이 있었던 26명중 5명(19 .2 %)에서 Esophageal burn이 없었다 특히 Esophageal burn의 Grade II, III 25명 중 9명(29.6 %)에서 oral cavity burn이 없었다. 7) 식도 부식중 환자의 치료 원칙으로 Grade I, II, III에서 항생제 및 보존적 치료를 하였으며 Grade I에선 oral feeding을 시켰고 Steroid는 경우에 따라 투여하였으며 Grade III에선 원칙적으로 사용치 않았다. 식도조영술은 Grade I II III에서 3주 후에 모두 시행하였다. 8) 3주 후 식도조영술을 실

• Journal of Life Science
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• v.22 no.3
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• pp.324-331
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• 2012

Bacteriological examination of spring water in Jeju City was conducted. A total of 21 spring water samples were collected from January to April, 2010. During the study period, the range of temperature was 0.6 to $15.4^{\circ}C$, and the results of the analyses showed that hydrogen ion concentrations (pH) for spring water were 0.43 to 7.9. Salinity levels for the samples averaged from 3.0 to 1.64%, and levels of water-dissolved oxygen were 1.85 to 6.06 mg/l. The range of total coliforms in spring water samples at 21 stations located in the designated spring water were <1.8->1,600 MPN/100 ml. Furthermore, the range of geometric means of total coliforms was 9.9-151.6 MPN/100 ml, while the range of fecal coliforms in spring water samples at 21 stations located in the designated spring water area was <1.8->1,600 MPN/100 ml. Finally, the range of geometric mean of fecal coliforms was 3.1-151.6 MPN/100 ml. The level of microbial contamination was examined in 21 samples for indications of bacterial contamination such as heterotrophic bacteria, Escherichia coli O157:H7, Salmonella spp., Vibrio parahaemolyticus, Staphylococcus aureus, and Shigella spp. were frequently detected in the spring water. Salmonella spp., Shigella spp., Vibrio parahaemolyticus, and S. aureus were detected in the range of $0-0.5{\times}10^1$, $0-0.1{\times}10^1$, $0-0.1{\times}10^1$, and $0-0.3{\times}10^1$ CFU/ml, respectively, while E. coli O157:H7 was not detected in the examined spring water samples.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.1
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• pp.11-17
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• 2017

Purpose: Phenylketonuria (PKU) results from a deficiency of phenylalanine hydroxylase (PAH). The mutation of the PAH gene results in decreased phenylalanine hydroxylase enzyme activity in hyperphenylalaninemia (HPA) patients. This study reports ten cases of patients with the benign HPA genotype c.158G>A (p.Arg53His, R53H) variant in the PAH gene and aims to evaluate the clinical significance of the R53H variant. Methods: Ten Korean patients with the HPA genotype the R53H variant were included in this study. A retrospective medical record review was conducted. We characterized the phenotypes of the patients with HPA with the R53H variant using the following system: classic PKU, moderate PKU, mild PKU, Mild HPA, and benign HPA. Results: Five patients had the R53H variant with the "Pathogenic" variants (R413P, R241C, $Y356^*$, c.442-1G>A, $Y325^*$), Two patients had the "Likely pathogenic" variants ($W187^*$, A259T), Two patients had the "Uncertain significance" variants (R53H, G344D), and One patient had the "Not provided" variant (c.1066-14C>G). Nine patients genotyped with the R53H variant were the patient with benign HPA and One patient genotyped with the R53H homozygote was within normal range of plasma phenylalanine. None of the ten patients required dietary restriction of phenylalanine or pharmacotherapy to maintain their plasma phenylalanine levels and showed no clinical symptoms of HPA. Conclusion: Ten patients with HPA genotype the R53H variant were the patient with benign HPA and showed no clinical symptoms of HPA. Thus, the R53H variant, which was previously classified as an "Uncertain significance" mutation in HPA patients, should be re-classified as "Benign."