• 대한본초학회지
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• 제27권3호
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• pp.101-106
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• 2012

Objectives : To evaluate the toxicity of KOB03, polyherbal medicine for the treatment of allergic rhinitis, we performed the dose-range finding test of KOB03 by oral supplementation for 4 weeks in Sprague-Dawley rats. Methods : The water extract of KOB03 consisting of five different herbs was supplied from GLP company. KOB03 was supplemented by gavage at 0, 500, 2,500 and 5,000 mg/kg/day for 4-week consecutive days. We recorded the clinical signs of toxicity, body weight, organ weights, hematology, gross and histological changes in target organs of rats, and clinical chemistry analysis. Results : KOB03 at all doses was shown no mortality or abnormal clinical signs in rats during at the observation period. Furthermore, there was no difference in body weight and food-take consumption, organ weight, gross pathological findings, and urine analysis among the groups of rats treated with different doses of KOB03. The hematological analysis and clinical blood chemistry data were revealed no toxic effects from KOB03-supplemented rats. Conclusions : The results suggest that KOB03 is a wide margin of safety on dose-range toxicity in rats. The no observable adverse effect level (NOAEL) of the test, KOB03 in rats is no less than 5,000 mg/kg/day.

• Neonatal Medicine
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• 제17권2호
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• pp.250-253
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• 2010

Citrullinemia는 요소 회로 이상으로 argininosuccinate synthetase의 결핍으로 기인한다. 저자들은 citrullinemia type I 환자와 그의 가족에서 새롭게 발견된 돌연변이를 경험하여 이를 보고하고자 한다. 환아는 광범위 신생아 선천성 대사이상 선별검사에서 citrulline이 고도의 증가 소견과 혈청 암모니아는 $982{\mu}mol/L$까지 증가 소견을 보였다. 혈청 아미노산 분석결과 citrulline 1,581 nmol/mL로 현저한 증가 소견을 보였으며 또한 소변 유기산 분석 검사결과 orotic acid가 3,566 mmol/mol Cr로 매우 증가된 소견을 보였다. Citrullinemia 확진을 위하여 환아와 가족에 대하여 ASS1 gene 검사를 시행하였다. 환아는 c.689G>C (p.G230A)와 c.892G>A (p.E298k)의 변이가 발견되어 ASS1 gene의 돌연변이에 의한 citrullinemia type I 으로 진단되었으며, 두 가지 돌연변이는 아직 국내에 보고된 적 없는 새로운 것으로 확인되었다. 국내에서 새롭게 발견된 citrullinemia type I 유전자를 보고하며 citrullinemia를 보인 경우 확진 및 유전상담을 위하여 가족 유전자 검사를 시행하는 것이 필요하다고 생각한다.

• 한국임상수의학회지
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• 제22권4호
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• pp.420-423
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• 2005

A 2-year-old 16-kg, intact female lindo was presented with weight loss and poor hair coat. Abnormal serum biochemical values included mild hypokalemia (3.9 mmol/L, reference range 4.37 to 5.35 mmol/L) and mild hyperglycemia (124 mg/dl, reference range 65 to 118 mg/dl). in the complete blood count and diagnostic imaging examination, abnormal changes wer not seen. The analysis of urine sample obtained from cystocentesis revealed glucosuria (> 100 mg/dl) and mild proteinuria. Repeated analysis after admission showed persistent glucosuria and hypokalemia. But blood glucose values did not exceed the renal threshold fur glucose reabsorption. To differentiate cause of the glucosuria, the glucose tolerance test and the low-dosage dexamethasone suppression test were indicated. Results of both tests were normal. In addition, the serum total thyroxine $(T_4)$ value was within normal range. The arterial blood gas analysis showed no remarkable changes. The fractional reabsorption rates of amino acids and phosphorus were calculated above $97\%$. Based on these findings, the dog was diagnosed as renal glucosuria due to proximal renal tubular dysfunction. But this persistent renal glucosuria with hypokalemia may be the initial sign of Fanconi's syndrome or proximal renal tubular acidosis.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.45-48
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• 2016

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid ${\beta}$-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric screening for inborn errors of metabolism have helped detect several metabolic disorders, including SCADD, without symptoms in the neonate period. This allows immediate initiation of treatment and monitoring, so they remain largely symptomless metabolic disease. Here, we report a 15-month-old asymptomatic male, who was diagnosed with SCADD by newborn screening. Spectrometric screening for inborn errors of metabolism 72 hours after birth revealed an elevated butyrylcarnitine (C4) concentration of $2.25{\mu}mol/L$ (normal, < $0.99{\mu}mol/L$). Urinary excretion of ethylmalonic acid was also elevated, as detected by urine organic acid analysis. To confirm the diagnosis of SCADD, direct sequencing analysis of 10 coding exons and the exon-intron boundaries of the ACADS gene were performed. Subsequent sequence analysis revealed compound heterozygous missense mutations c.164C>T (p.Pro55Leu) and c.1031A>G (p.Glu344Gly) on exons 2 and 9, respectively. The patient is now growing up, unretarded by symptoms such as seizure and developmental delay.

• 대한유전성대사질환학회지
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• 제11권1호
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• pp.52-73
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• 2011

Since we have started organic acid analysis on Jul. 1997, we have been collecting data about organic acidemias in Korea. The data presented here is our 3 years experience in organic acid analysis. We have collected 712 samples from major university hospitals all over the Korea, large enough for relatively accurate incidence of organic acid disorders. We are using solvent extraction method with ethylacetate, MSTFA for derivatization and quantitation of 83 organic acids simultaneously. Out of 712 patients sample, 498 patients sample (70%) showed no evidence of organic acid abnormalities. Out of 214 remaining samples we have found very diverse disorders such as methylmalonic aciduria(6), propionic aciduria (10), biotinidase deficiency (6), maple syrup urine disease (3), isovaleric aciduria (4), tyrosinemia type II (4), tyrosinemia type IV (1), glutaric aciduria type I (1), glutaric aciduria type II (22), 3-methylglutaconic aciduria type I (3), 3-methylglutaconic aciduria type III (7), HMG-CoA lyase deficiency (1), hyperglyceroluria (2), cytosolic 3-ketothiolase deficiency (55), mitochondrial 3-ketothiolase deficiency (3), 3-hydroxyisobutyric aciduria (2), L-2-hydroxyglutaric aciduria (2), fumaric aciduria (2), lactic aciduria with combined elevation of pyruvate (most likely PDHC deficiency) (28), lactic aciduria without combined elevation of pyruvate (most likely mitochondrial respiratory chain disorders) (35), SCAD deficiency (3), MCAD deficiency (1), 3-methylcrotonylglycineuria (1), orotic aciduria (most likely urea cycle disorders) (7) and 2-methylbranched chain acyl-CoA dehydrogenase deficiency (1). In conclusion, though the incidence of indivisual organic acidemia is low, the incidence of overall organic acidemia is relatively high in Korea. Most of the patients showed some signs of neurological dysfunction. In other words, organic acid analysis should be included in the diagnostic work up of all neurological dysfunctions.

• 생명과학회지
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• 제23권2호
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• pp.306-310
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• 2013

본 연구는 요중 아플라톡신 M1 (AFM1)의 농도를 측정할 수 있는 competitive ELISA 방법의 특성을 HPLC-fluorescence detector (HPLC-FLD) 방법과 비교하여 평가하였다. ELISA 방법에서의 AFM1의 회수율은 105% (73-124%)였고 측정의 변이계수는 6.85%로 나타났다. ELISA 방법에서의 검출한계와 정량한계는 각각 0.20 pg/ml과 0.62 pg/ml로 조사되었으며, 두 방법을 이용하여 측정한 요중 AFM1 농도는 상관계수 0.96의 매우 높은 상관성이 있는 것으로 확인되었다(p<0.01). 그러나, 이렇게 높은 상관성에도 불구하고, ELISA 방법을 이용한 요중 AFM1의 농도는 HPLC-FLD 방법으로 측정한 값에 비해 상대적으로 높게 나타나는 경향을 보여 ELISA를 이용한 방법이 단시간에 많은 시료를 분석할 수 있는 장점은 있으나 그 결과는 HPLC-FLD 방법을 이용해서 얻은 회귀식을 이용하여 보정을 한 후 제시할 필요가 있는 것으로 판단된다.

• Journal of Genetic Medicine
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• 제9권1호
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• pp.42-46
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• 2012

Short-chain acyl-CoA dehydrogenase deficiency (SCADD; OMIM # 201470) is an autosomal recessive inborn error of mitochondrial fatty acid ${\beta}$-oxidation, presenting with a variety of clinical signs and symptoms. Developmental delay, hypertonia or hypotonia, ketotic hypoglycemia, and epilepsy are most frequently reported. In general, patients diagnosed through newborn screening have shown normal growth and development in contrast to those diagnosed as a result of clinically initiated evaluations. Here, the case of an asymptomatic Korean newborn with SCADD identified by tandem mass spectrometry is reported. The patient showed an elevated concentration of butyrylcarnitine detected on newborn screening. Urinary excretion of ethylmalonic acid was elevated by urine organic acid analysis. To confirm the diagnosis of SCADD, a direct sequencing analysis of 10 coding exons and the exon-intron boundaries of the ACADS gene were performed. Genetic analysis of ACADS showed the following novel compound heterozygous missense mutations: c.277C>A (p.Leu93Ile) on exon3 and c.682G>A (p.Glu288Lys) on exon6. These results will provide further evidence of mutational heterogeneity for SCADD.

• 대한의생명과학회지
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• 제24권4호
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• pp.430-434
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• 2018

Candida glabrata is the second most prevalent causative agent for candidiasis following C. albicans. The opportunistic yeast, C. glabrata, is able to cause the critical bloodstream infections in hospitalized patients. Conventional identification methods for yeasts are often time consuming and labor intensive. Therefore, recent studies on sequence-based identification have been conducted. Recently, sequencing the D1/D2 domain of the large subunit ribosomal RNA gene and the internal transcribed spacers (ITS) 1 and ITS2 regions of the ribosomal DNA has proven useful for DNA-based identification of most species of fungi. In the present study, therefore, fungal ITS and D1/D2 domain regions were targeted and analyzed by DNA sequencing for the accurate identification of C. glabrata clinical isolates. A total of 102 C. glabrata clinical isolates from various clinical samples including bloodstream, catheterized urine, bile and other body fluids were used in the study. The results of the DNA sequence analysis showed that the mean standard deviation of species identity percent score between ITS and D1/D2 domain regions was $97.8%{\pm}2.9$ and $99.7%{\pm}0.46$, respectively. These results revealed that the D1/D2 domain region might be a better target for identifying C. glabrata clinical isolates based on DNA sequences than the ITS1 and ITS2 regions. However, in order to evaluate the usefulness of D1/D2 domain region for species identification of all Candida species, other Candida species such as C. albicans, C. tropicalis, C. dubliniensis, and C. krusei should be verified in further studies additionally.

• 한국환경보건학회지
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• 제48권4호
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• pp.216-226
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• 2022

Background: The amount of smoking in adolescence increases with a younger age of smoking initiation and affects physical health. To establish and evaluate smoking-related policies, it is important to determine actual smoking status. Validation of self-reported questionnaires can identify the accuracy of the questionnaire data reflecting smoking status. Objectives: The purpose of this study was to evaluate the validity of self-reported smoking status and identify factors affecting the accuracy of self-reported smoking in South Korean adolescents. Methods: This study investigated the consistency between cotinine concentrations and self-reported questionnaire data through the analysis of urine samples collected from 922 adolescents aged 13~18 among the participants of Cycle 3 of the Korean National Environmental Health Survey. Smoking status was classified using the cotinine cut-off point of 39.85 ㎍/L in adolescents, and factors affecting the accuracy were analyzed through multiple logistic regression analysis. Results: The smoking rates according to the self-reported questionnaire and cut-off point-based cotinine concentrations among adolescents were 3.1% and 5.1%, respectively. The results found 97.1% consistency between self-reported smokers and smokers according to cotinine concentration. Factors affecting the discrepancy showed a significant relationship, including gender, secondhand smoke, and use of e-cigarettes. Conclusions: The results can be used as basic data to establish a smoking policy for adolescents through continuous monitoring and improvement of questionnaire items of factors affecting the discrepancy.

• Journal of Periodontal and Implant Science
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• 제52권6호
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• pp.509-521
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• 2022

Purpose: Systemic health has a profound effect on dental treatment. The aim of this study was to evaluate peri-implant bone loss and health screening data to discover factors that may influence peri-implant diseases. Methods: This study analyzed the panoramic X-rays of patients undergoing health screenings at the Health Promotion Center at Seoul St. Mary's Hospital in 2018, to investigate the relationship between laboratory test results and dental data. The patients' physical data, such as height, weight, blood pressure, hematological and urine analysis data, smoking habits, number of remaining teeth, alveolar bone level, number of implants, and degree of bone loss around the implant, were analyzed for correlations. Their associations with glycated hemoglobin, glucose, blood urea nitrogen (BUN), creatinine, and severity of periodontitis were evaluated using univariate and multivariate regression analysis. Results: In total, 2,264 patients opted in for dental health examinations, of whom 752 (33.2%) had undergone dental implant treatment. These 752 patients had a total of 2,658 implants, and 129 (17.1%) had 1 or more implants with peri-implant bone loss of 2 mm or more. The number of these implants was 204 (7%). Body mass index and smoking were not correlated with peri-implant bone loss. Stepwise multivariate regression analysis revealed that the severity of periodontal bone loss (moderate bone loss: odds ratio [OR], 3.154; 95% confidence interval [CI], 1.175-8.475 and severe bone loss: OR, 7.751; 95% CI, 3.003-20) and BUN (OR, 1.082; 95% CI, 1.027-1.141) showed statistically significant predictive value. The severity of periodontitis showed greater predictive value than the biochemical parameters of blood glucose, renal function, and liver function. Conclusions: The results of this study showed that periodontal bone loss was a predictor of peri-implant bone loss, suggesting that periodontal disease should be controlled before dental treatment. Diligent maintenance care is recommended for patients with moderate to severe periodontal bone loss.