• 대한유전성대사질환학회지
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• 제16권1호
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• pp.47-51
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• 2016

프로피온산혈증은 상염색체 열성유전에 의해 발생하는 질환으로, 혈중에 암모니아, 독성 물질 등이 축적되어 경한 증상에서부터 사망에까지 이르는 질환이다. 유병률은 50,000-100,000명당 1명이다. PCCA 또는 PCCB 유전자의 돌연변이로 발생하며, 이것을 규명하는 것이 가장 확실한 진단 방법이다. 두 유형에 따른 임상경과 차이는 뚜렷하게 밝혀져 있지 않다. 발병 시기에 따라 신생아기형과 후기형으로 나눌 수 있다. 증상 발현의 원인은 이화작용을 강화시키는 감염, 스트레스, 변비, 단백질의 과도한 섭취 등이며, 운동실조, 이상행동, 식욕부진, 주기적 구토, 성장장애, 신경발달이상 등의 광범위한 임상 경과를 보인다. 정확한 진단과 조속한 초기 치료가 환자의 생존율 및 신경 발달 장애 여부에 중요한 요소이다. 본 증례는 고암모니아혈증 및 대사산증이 심하지 않았으나 조기에 대사성 질환을 염두에 두고 PCCA와 PCCB 유전자의 돌연변이를 분석하여 프로피온산혈증을 진단하고 적극적인 금식 및 수액 치료와 진단을 통해 신체 발달 및 운동 및 치명적인 신경학적 장애 없이 성장한 고무적인 사례로 이를 보고하는 바이다.

• Biomolecules & Therapeutics
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• 제19권1호
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• pp.38-44
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• 2011

Cisplatin is widely used for various types of cancers. However, its side effects, most notably, renal toxicity often limit its clinical utility. Although previous metabolomic studies reported possible toxicity markers, they used small number of animals and statistical approaches that may not perform best in the presence of intra-group variation. Here, we identified urinary biomarkers associated with renal toxicity induced by cisplatin using NMR-based metabolomics combined with Orthogonal Projections to Latent Structures-Discriminant Analysis (OPLS-DA). Male Sprague-Dawley rats (n=22) were treated with cisplatin (10 mg/kg single dose), and the urines obtained before and after treatment were analyzed by NMR. Multivariable analysis of NMR data presented clear separation between non-treated and treated groups. The OPLS-DA statistical results revealed that 1,3-dimethylurate, taurine, glucose, glycine and branched-chain amino acid (isoleucine, leucine and valine) were significantly elevated in the treated group and that phenylacetylglycine and sarcosine levels were decreased in the treated group. To test the robustness of the approach, we built a prediction model for the toxicity and were able to predict all the unknown samples (n=14) correctly. We believe the proposed NMR-based metabolomics with OPLS-DA approach and the resulting urine markers can be used to augment the currently available blood markers.

• 한국임상수의학회지
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• 제24권2호
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• pp.82-87
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• 2007

태국에서 생산된 Pedigree사의 개 사료를 1개월 이상 섭취한 5마리의 개가 식욕절폐, 쇠약, 구토, 다음다뇨 증상을 보였으며 증상이 심한 개는 혈액성 설사와 저체온증을 보였다. 특징적인 임상병리학적 소견으로 BUN과 creatinine이 높았으며 일부의 개에서는 GGT, 무기인과 lipase가 높았으나 CBC는 특이적인 임상병리학적 소견이 없었다. 요분석에서는 혈뇨, 저비중뇨, 단백뇨와 calcium oxalate와 유사한 결정이 관찰되었다. 증상이 심한 두 마리는 폐사하였으며 나머지의 개는 사료의 변경과 보조요법에 의하여 점차 회복되었다. 전형적인 병리학적 소견은 신장에서 관찰되어 신장의 위축, 일부 사구체의 모세혈관 충혈, 세뇨관의 미만성 변성과 이영양성 석회화, 세뇨관의 괴사와 재생, 세뇨관 내강 내에 황갈색 판상 형광성 물질 또는 파편이 관찰되었다. 섭취한 사료와 동일한 개봉하지 않은 사료 내의 ochratoxin A와 citrinin의 농도를 분석한 결과 각각 372.8ppb와 8.3ppb가 검출되었다. 병력, 임상증상, 임상병리소견, 병리학적 소견 및 사료 내의 곰팡이독소의 분석을 통하여 ochratoxin A와 citrinin의 중독에 의한 신부전으로 최종진단을 내렸다.

• 대한유전성대사질환학회지
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• 제3권1호
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• pp.86-93
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• 2003

Background : The SCL began screening of newborns and high risk group blood spots with tandem mass spectrometry (MS/MS) in April 2001. Our goal was to determine approximate prevalence of metabolic disorders, optimization of decision criteria for estimation of preventive effect with early diagnosis. This report describes the ongoing effort to identify more than 30 metabolic disorders by MS/MS in South Korea. Methods : Blood spot was collected from day 2 to 30 (mostly from day 2 to 10) after birth for newborn. Blood spot of high risk group was from the pediatric patients in NICU, developmental delay, mental retardation, strong family history of metabolic disorders. One punch (3.2 mm ID) of dried blood spots was extracted with $150{\mu}L$ of methanol containing isotopically labelled amino acids (AA) and acylcarnitines (AC) internal standards. Butanolic HCl was added and incubated at $65^{\circ}C$ for 15 min. The butylated extract was introduced into the inlet of MS/MS. Neutral loss of m/z 102 and parent ion mode of m/z 85 were set for the analyses of AA and AC, respectively. Diagnosis was confirmed by repeating acylcarnitine profile, urine organic acid and plasma amino acid analysis, direct enzyme assay, or molecular testing. Results : Approximately 31,000 neonates and children were screened and the estimated prevalence (newborn/high risk group), sensitivity, specificity and recall rate amounted to 1:2384/1:2066, 96.55%, 99.98%, and 0.73%, respectively. Confirmed 28 (0.09%) multiple metabolic disorders (newborn/high risk) were as follows; 13 amino acid disorders [classical PKU (3/4), BH4 deficient-hyperphenylalaninemia (0/1), Citrullinemia (1/0), Homocystinuria (0/2), Hypermethioninemia (0/1), Tyrosinemia (1/0)], 8 organic acidurias [Propionic aciduria (2/1), Methylmalonic aciduria (0/1), Isovaleric aciduria (1/1), 3-methylcrotonylglycineuria (1/0), Glutaric aciduria type1 (1/0)], 7 fatty acid oxidation disorders [LCHAD def. (2/2), Mitochondrial TFP def. (0/1), VLCAD def. (1/0), LC3KT def. (0/1). Conclnsion : The relatively normal development of 10 patients with metabolic disorders among newborns (except for the expired) demonstrates the usefulness of newborn screening by MS/MS for early diagnosis and medical intervention. However, close coordination between the MS/MS screening laboratory and the metabolic clinic/biochmical geneticists is needed to determine proper decision of screening parameters, confirmation diagnosis, follow-up scheme and additional tests.

• Kidney Research and Clinical Practice
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• 제36권1호
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• pp.48-57
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• 2017

Background: Hepatic steatosis measured with controlled attenuation parameter (CAP) using transient elastography predicts metabolic syndrome in the general population. We investigated whether CAP predicted metabolic syndrome in chronic kidney disease patients. Methods: CAP was measured with transient elastography in 465 predialysis chronic kidney disease patients (mean age, 57.5 years). Results: The median CAP value was 239 (202-274) dB/m. In 195 (41.9%) patients with metabolic syndrome, diabetes mellitus was more prevalent (105 [53.8%] vs. 71 [26.3%], P < 0.001), with significantly increased urine albumin-to-creatinine ratio (184 [38-706] vs. 56 [16-408] mg/g Cr, P = 0.003), high sensitivity C-reactive protein levels (5.4 [1.4-28.2] vs. 1.7 [0.6-9.9] mg/L, P < 0.001), and CAP (248 [210-302] vs. 226 [196-259] dB/m, P < 0.001). In multiple linear regression analysis, CAP was independently related to body mass index (${\beta}=0.742$, P < 0.001), triglyceride levels (${\beta}=2.034$, P < 0.001), estimated glomerular filtration rate (${\beta}=0.316$, P = 0.001), serum albumin (${\beta}=1.386$, P < 0.001), alanine aminotransferase (${\beta}=0.064$, P = 0.029), and total bilirubin (${\beta}=-0.881$, P = 0.009). In multiple logistic regression analysis, increased CAP was independently associated with increased metabolic syndrome risk (per 10 dB/m increase; odds ratio, 1.093; 95% confidence interval, 1.009-1.183; P = 0.029) even after adjusting for multiple confounding factors. Conclusion: Increased CAP measured with transient elastography significantly correlated with and could predict increased metabolic syndrome risk in chronic kidney disease patients.

• 한국환경보건학회지
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• 제45권5호
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• pp.541-555
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• 2019

Objectives: The aim of this study is to examine heavy metal exposure levels in the blood and urine of a nationally representative adult population in Korea, and to identify the major influence factors for exposure through linkage analysis using questionnaire data. Methods: Biological samples and questionnaire data were collected from adults aged 18 and over who had participated in the Korean National Environmental Health Survey from 2009 to 2017. Lead, mercury, and cadmium exposure levels were presented with geometric mean and 95th percentiles. Multiple regression analysis was performed to determine the factors affecting heavy metal concentrations. Results: Blood lead levels increased slightly in Cycle 2 compared to Cycle 1, but decreased in Cycle 3. Blood and urinary mercury and urinary cadmium levels decreased over time. The main influence factors included gender, age, and smoking status for blood lead levels; gender, age, and intake of fish at least once a week for blood mercury levels; and age for urinary cadmium levels. Conclusion: The Korean National Environmental Health Survey is an effective tool for confirming over-time changes in exposure to lead, mercury, and cadmium in Korean adults and to identify its influence factors. The results of this study are expected to present basic data for calculating reference values and baseline exposure levels for environmental chemicals in Korean adults.

• 대한임상독성학회지
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• 제17권2호
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• pp.118-125
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• 2019

Purpose: Non-benzodiazepine hypnotic drugs (including zolpidem) are associated with an increased risk of suicide and suicidal ideation. Considering the wide usage of zolpidem, this drug should be considered a possible etiology for stupor or coma in any patient exposed to this drug. However, there are no reports on zolpidem blood levels in emergency department patients in Korea. We therefore reviewed the analyzed data of a toxicology laboratory at one university affiliated hospital. Methods: The sex, age, chief symptoms, suspiciousness of poisoning, and presumption of poison were analyzed from January 2018 to June 2019. The detection frequency and level of zolpidem in the patient blood were compared to the mental changes presented, which is the main consequence of zolpidem. Results: A total of 229 toxicological analyses, requested to a toxicological laboratory at one university affiliated hospital, were reviewed. Among 229 patients, the mean age was 54.3±20.7 years old with 113 women and 116 men. 8.7% of patients have psychiatric illness and 39.7% were poisoned intentionally. The chief symptoms detected were: mental change 55.0%, gastrointestinal 14.4%, cardiovascular 10.5%, focal neurological 7.4%, respiratory 3.5%, none 8.7%, and unknown 0.4%. A request for detailed reports revealed that causative poisons were specified only in 20.1% cases. Zolpidem was detected in 22.3% cases (51/229), with median blood level 1.26 mg/L (interquartile 0.1, 5.06 mg/L) and urine 0.90 mg/L (interquartile 0.11, 5.6 mg/L). Furthermore, zolpidem was more frequently detected in toxicology analysis of patients where mental change was the primary symptom, as compared to other symptoms (32.5% vs. 9.7%, p<0.01). Conclusion: This study reported the blood level of zolpidem in suspected poisoning patients admitted to the emergency department.

• 유기물자원화
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• 제27권2호
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• pp.57-66
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• 2019

본 연구는 유기성폐자원(가축분뇨, 음식물류폐기물, 음식물류폐수 등)의 바이오가스 이용에 대한 적정 설계 및 운전 기술지침서 마련하고자 현장조사와 정밀모니터링 등을 실시하였다. 정부의 중장기 바이오가스화 정책에 따라 폐자원의 자원화 시설 확충이 활발히 추진되고 있다. 하지만 생산된 바이오가스를 이용하여 도시가스 및 수송용으로 활용하는 시설은 효율이 아직은 저조하다. 전국 7개소 유기성폐자원 바이오가스화 시설을 대상으로 정밀모니터링을 실시하였다. 사계절 평균으로 정밀모니터링 결과를 정리하였을 때, 유기성폐자원 별 효율성 분석에서 유기성분해율은 VS기준 평균 66.3 %로 분석되었다. 전처리 전후 바이오가스 성상을 분석한 결과 철염 및 탈황(건식, 습식)을 이용하여 전체 시설의 $H_2S$ 평균은 949.7 ppm으로 측정되었으며, 고품질화 정제설비 전단 및 후단에서 29.0 ppm과 0.3 ppm으로 나타났다. 메탄 함량은 소화조 후단에서 65.6 %, 고품질화 정제설비 전단 및 후단에서 63.5 %와 97.5 %까지 감소하는 것을 확인하였다.

• 생명과학회지
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• 제29권1호
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• pp.37-44
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• 2019

조릿대 잎은 항염, 해열, 이뇨작용 등의 약리효과를 가지고 있어 예로부터 전통의약에서 사용되어 왔다. 본 연구팀은 열수 추출한 후 남는 잔사로부터 식물화합물을 다량으로 함유한 잔사 추출물(PRE)을 제조하는 방법을 보고 바 있다. 본 연구는PRE의 고요산 혈증 저감소재로서 활용 가능성을 평가하기 위하여 수행하였다. Potassium oxonate(PO)로 유도한 고요산 혈증 생쥐 모델에서 PRE는 혈액 내의 요산, 요소 질소, 크레아틴 농도는 감소시켰고, 오줌 내의 요산과 크레아틴 농도는 증가하였다. 또한, PRE 투여한 고용산 혈증 생쥐에서 간 내 요산 농도와 xanthine oxidase 활성이 대조군에 비해 감소하였고, PRE는 PO에 의해 유도된 간 조직의 상해를 보호하였다. 이 결과는 PO로 유도된 고요산 혈증 생쥐에서 PRE는 항염증 및 세포보호 작용에 기인하는 것으로 판단된다. 부가적으로 PRE에 의한 신장조직에서 transcriptome의 반응 변화를 RNA 서열분석법으로 분석하였다. PRE는 주로 면역반응, 염증반응 및 대사과정에 관여하는 유전자의 발현에 영향을 미치는 것으로 나타났다. 본 연구 결과는 염증을 동반하는 고요산 혈증을 개선하는 소재로서의 PRE의 활용 가능성을 제시해 준다.

• 한국환경보건학회지
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• 제46권6호
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• pp.655-666
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• 2020

Objectives: The purpose of this study was to evaluate urinary arsenic concentrations by arsenic species and to identify related factors among local residents near abandoned metal mines in Korea. Methods: Among the subjects of the Health Survey of Residents Near Abandoned Metal Mines for 2013-2017, 664 people were enrolled in this study. Urinary arsenic species analysis was performed using ICP/MS. Result: The geometric means (95% Confidence Interval) by urinary arsenic species were 0.15 (0.13-0.17) ㎍/L for AsIII, 0.64 (0.55-0.75) ㎍/L for AsV, and 1.21 (1.05-1.40) ㎍/L for inorganic arsenic. The geometric means of urinary MMA and DMA were 1.58 (1.35-1.86) ㎍/L and 77.93 (72.61-83.63) ㎍/L, respectively, and that of organic arsenic was 83.15 (77.80-88.88) ㎍/L. The concentration of inorganic arsenic in the group using groundwater as drinking water was 1.36 (1.13-1.64) ㎍/L, which was statistically significantly higher than the 1.00 (0.80-1.25) ㎍/L in the other drinking water groups. Regarding rice consumption, the concentration of inorganic arsenic in urine in the group whose consumption was more than half rice produced in the residential area was 1.32 ㎍/L, which was statistically significantly higher than that of the 1.12 ㎍/L for the group whose consumption was less than half. Conclusion: In the analysis of the factors affecting the urinary inorganic arsenic concentration of the residents of the abandoned metal mine area, the use of groundwater as drinking water and consumption of rice produced in the residential area were considered related factors.