한국에서의 15년간 신생아 선별검사 실적 및 환아 발생률

최태윤,이동환,Choi, Tae Youn,Lee, Dong Hwan 대한유전성대사질환학회 2006 대한유전성대사질환학회지 Vol.6 No.1

Purpose : The Ministry of Health and Social Affairs adopted newborn screening for the low-income families in 1991 and expanded in 1997 to cover all newborns. At the beginning of the program 6 diseases were selected for screening but the number of screening items had been reduced to two (congenital hypothyroidism and phenylketonuria) from the year 1995. Now, the government program has a fifteen year history. The purpose of this study was to analyze results of neonatal screening tests and prevalence at birth of phenylketonuria and congenital hypothyroidism in Korea. Methods : The results of neonatal screening tests were collected from public health centers during 15 years from 1991 to 2005. These data were analyzed for number of tested newborns and prevalence at birth of the inborn errors of metabolism. Results : Neonatal screening test for inborn error of metabolism was performed for 3,707,773 newborns for 15 years. Among newborns who were screened 718 congenital hypothyroidisms and 86 phenylketonurias were detected, and these presented an prevalence at bith of congenital hypothyroidism 1/5,164 and that of phenylketonuria 1/43,114. The total prevalence of two diseases was 1/4,612. Conclusion : National screening program should be expanded to include all items of screening tests for whole newborns and established correct prevalence of other inherited metabolic diseases in Korea.

선천성 대사이상 검사 채혈지 및 외부정도관리 분석

최태윤 ( Tae Youn Choi ),김종원 ( Jong Won Kim ),민원기 ( Won Ki Min ),송운흥 ( Wung Heung Song ),윤혜란 ( Hye Ran Yoon ),이근 ( Keun Lee ),이동환 ( Dong Hwan Lee ),이홍균 ( Hong Kyun Lee ),조용균 ( Young Gyun Jo ) 한국모자보건학회 2003 한국모자보건학회지 Vol.7 No.1

Objective : The purpose of this study was to assess the quality of national screening program for inborn errors of metabolism in 2001. Methods : Neonatal screening test for inborn error of metabolism was performed for 382,338 newborns in 2001. Among them, 324,913 blood sample records for neonatal screening test were filed at Planned Parenthood Federation of Korea from February 2001 to January 2002. About 8% of the filed records (27,000 records) were proportionally sampled for 6 major metropolitan areas and 9 provinces. Data were abstracted from the blood sample records, various official records and quality control results. Results : Proportion of first, second, third and fourth or more birth order of the babies was 57.8%, 35.2%t 6.3% and 0.7%, respectively. The male : female birth ratio was 113.7 : 100. The maternal age distribution showed a high concentration in late 20s and early 30s; 44.0% in 25-29 years and 42.8% in 30-34 years age group. The mean birth weight was 3.25kg (male 3.29kgt female 3.21kg). Proportion of breast feeding was 16.3%, formula feeding 61.5%, both beast and formula feeding 19.3%, and other 2.9%. Seventy percent of newborns who had received neonatal screening test had only two items; TSH and phenylalane screening tests. About 9% of newborns had screenings for all six items. Among 382,338 newborns who were screened, 70 congenital hypothyroidisms and 9 phenylketonurias were detected, and these presented an incidence rate of congenital hypothyroidism 1/5,461 and that of phenylketonuria 1/42,482. The total incidence rate of inherited metabolic diseases was 1/4,839. Four trials of external quality assessment for tests of inborn error of metabolism were performed in 2001. Ten specimens for neonatal screening tests were distributed to 71 laboratories with 71 responses in the first trial, 70 responses in the second trial, 69 responses in the third trial and 68 responses in the fourth trial. The failed institutes were 0 in the first trial, 3 in the second trial, 3 in the third trial and 3 in the fourth trial. The pass rate were 95.8~ 100% in each trial. Sixty six of 71 institutes were passed all in four trials. Conclusion : National screening program should be expanded to include all items of screening tests for whole newborns under an appropriate quality control program.

지연성 운동장애와 5-$HT_{2A}$ 수용체 유전자 T103C 다형성과의 관계

한상우,신정원,최태윤,우성일,정한용,정희연,한선호,Hahn, Sang Woo,Shin, Jeong Won,Choi, Tae Youn,Woo, Sung Il,Jung, Han Yong,Jung, Hee Yeoun,Han, Sun Ho 대한생물정신의학회 2003 생물정신의학 Vol.10 No.2

Objective:Some candidate gene polymorphisms were reported to be associated with tardive dyskinesia (TD). The aim of this study was to investigate the association of the 5-$HT_{2A}$ receptor gene polymorphisms with TD in Korean schizophrenic subjects. Method:Subjects were of 59 schizophrenic patients with TD and 60 schizophrenic patients without TD for studying of 5-$HT_{2A}$ receptor gene polymorphisms. TD was evaluated using the Abnormal Involuntary Movement Scale(AIMS). Genomic DNA was amplified by PCR and digestion with MspI and BsmI. Result:There were no statistically significant differences in the demographic variables, such as age, male to female percentage, duration of illnesses and duration of antipsychotic drug exposure between the TD group and control group. 1) T102C polymorphisms and TD Comparing the TD group and control group, the 102T/C allele was associated with a significantly increased risk for TD (${\chi}^2$=5.560, df=1, p=0.018). 2) Three AIMS categories of TD and T102C genotype. There were statistically significant differences in the three AIMS categories(${\chi}^2$=6.835, df=2, p=0.033). Conclusion:These result suggest 102T/C genotypes of the 5-$HT_{2A}$ receptor gene are related to the development of TD. The 102T/C genotypes were associated with significantly higher AIMS orofacial dyskinesia scores. These findings suggest that the 5-$HT_{2A}$ receptor gene is significantly associated with susceptibility to TD in patients with chronic schizophrenia.

마이코박테리아 검출을 위하여 MGIT 양성 신호를 보인 세균에 오염된 검체 재처리 과정의 효율성 평가

정해용,방해인,최태윤,Jung, Haeyong,Bang, Hae In,Choi, Tae Youn 대한임상검사과학회 2019 대한임상검사과학회지(KJCLS) Vol.51 No.2

BACTEC MGIT 960 system의 mycobacteria growth indicator tube (MGIT) 오염 제거과정의 효율성을 평가하기 위하여 기존 3% Ogawa media와 마이코박테리아의 배양 양상을 비교하였다. 검체는 5% sodium hydroxide (NaOH)과 0.5% N-acetyl-L-cysteine (NALC)를 처리하여 MGIT와 Ogawa media에 접종하였다. 배양된 마이코박테리아는 결핵균(mycobacterium tuberculosis, TB) 항원 kit로 동정하였다. 만약 MGIT에서 5일 이내에 오염균 배양되면 오염제거 과정을 반복하였다. BACTEC MGIT 960 system에 장착한 MGIT 4,790건 중 1,190건(24.8%)이 배양 양성의 결과를 보였고 이중 278건을 재처리 하였다. MGIT와 Ogawa media 사이의 결과를 비교하였을 때 불일치 결과(weighted kappa value: 0.283)를 보였고, 특히 TB 1건과 nontuberculous mycobacteria (NTM) 10건이 재처리한 MGIT에서만 배양되었다. 비록 소수이지만 재처리 과정으로 검출할 수 없었던 마이코박테리아를 검출하였다. 이는 마이코박테리아 검출을 위하여 MGIT와 Ogawa media을 동시에 시행할 뿐 아니라 MGIT에서 위양성을 보이는 경우, 검체의 재처리 과정을 추가하는 것이 필요하다 생각된다. A comparative study between commercially available mycobacteria growth indicator tubes (MGIT) in the BACTEC MGIT 960 System and the conventional Ogawa media was carried out to assess the effectiveness of the re-decontaminating process for the recovery of mycobacteria. Processed specimens with 5% sodium hydroxide and 0.5% N-acetyl-L-cysteine were inoculated into MGIT and Ogawa media. The acid fast bacilli (AFB) recovered from the cultures were identified using a mycobacterium tuberculosis (TB) antigen kit. If contaminants were observed in the MGIT tubes within five days, a decontaminating process was repeated. A total of 1,190 out of 4,790 (24.8%) specimens showed positive results using the BACTEC MGIT 960 system. Among them, 278 specimens were reprocessed. When the MGIT and Ogawa results were compared, it showed discordant results (weighted kappa value: 0.283). One TB and 10 nontuberculous mycobacteria (NTM) were newly detected in MGIT only. The likely benefit of the re-decontaminating process is the detection of additional mycobacteria that could not be detected without a re-decontaminating process despite being small in number. In addition to the combination of MGIT and Ogawa, the re-decontaminating process is recommended in the case of contaminations to recover mycobacteria.

천연물 도포가 UVB 파로 손상된 C57BL/6 mouse 피부의 색소침착과 염증생성에 미치는 영향

최욱희,안형수,최태윤,진소영,안령미,Choi, Wook-Hee,Ann, Hyoung-Soo,Choi, Tae-Youn,Jin, So-Young,Ahn, Ryoung-Me 한국환경보건학회 2006 한국환경보건학회지 Vol.32 No.5

Ultraviolet(UV) radiation causes a variety of biological effects on the skin, including inflammation, pigmentation, photoaging and cancer. Free radicals are involved in inflammatory skin reactions induced by UVB radiation. In this study, we investigated the effects of antioxidants(Tea, Korean red ginseng, Ginkgo biloba extract) on UVB-induced skin damage. Tea, KRG and EGb 761 were topically treated to dorsal skin of ICR mouse. The mice were also treated soon after IMED ($1.4KJ/m^{2}$) of UVB irradiation. Skin pigmentation of irradiated mouse was observed by a chromameter after 2 weeks. Topical application of Tea, KRG and EGb 761 for 2 weeks decreased skin pigmentation compared to DVB control group(p<.05). Tea, KRG and EGb 761 also reduced UVB-induced infiltration of inflammatory cells. These results showed that Tea, KRG and EGb 761 as a topical application may have preventive effect against UVB-induced skin damage.

악성흉막삼출액을 동반한 다계열형성이상 급성골수백혈병

서영익 ( Young Ik Seo ),최태윤 ( Tae Youn Choi ),신정원 ( Jeong Won Shin ),원종호 ( Jong Ho Won ),이상철 ( Sang Cheol Lee ),박희숙 ( Hee Sook Park ),이남수 ( Nam Soo Lee ),박노진 ( Ro Jin Park ) 대한결핵 및 호흡기학회 2008 Tuberculosis and Respiratory Diseases Vol.65 No.1

We report a case of acute myeloid leukemia with multilineage dysplasia accompanying malignant pleural effusion. A 73 year-old male patient was admitted complaining of febrile sensations and right chest pain. The cytology of the pleural fluid revealed malignant pleural effusion showing many blasts, which had previously been identified in his bone marrow when he was diagnosed with acute myeloid leukemia with multilineage dysplasia two months earlier. His age and poor general condition had precluded chemotherapy with the exception of hydroxyurea and conservative treatment. Unfortunately, he succumbed to the disease 4.5 months after diagnosis. This case highlights the importance of determining if the pleural effusion of acute leukemia is malignant or not because it can suggest a pleural metastasis and influence the prognosis.

혈액투석 환자의 영양 상태와 혈장 아미노산

윤동진(Dong Jin Youn),김진국(Jin Kook Kim),최수정(Soo Jeong Choi),최태윤(Tae Youn Choi),황승덕(Seung Duk Hwang) 대한내과학회 2002 대한내과학회지 Vol.62 No.5

Background: Many studies document the presence of abnormalities in amino acids metabolism in chronic uremia. These abnormalities have been attributed to low protein intake, deficiency of excretory and metabolic functions of the diseased kidneys, toxic effects of uremia on the intermediary metabolism of amino acids and in dialysis patients, loss of protein and amino acids by the dialytic procedure. Methods: This study was designed to compare anthropometric measurement, biochemical characteristics and plasma amino acid concentration between patients with end stage renal disease on maintenance hemodialysis (HD) and normal controls. A cross sectional study of overnight fasting plasma amino acids and plasma albumin, prealbumin, triglyceride (TG), cholesterol, transferrin concentration were performed on 20 hemodialysis patients and 20 normal controls, matched by age and sex. Results : The concentrations of prealbumin (25.60±7.05 mg/dL vs 35.08±8.11 mg/dL, p<0.005), transferrin (158.30±39.66 mg/dL vs 275.50±55.46 mg/dL, p<0.001) were found to be lower in HD patients. No differences in albumin, cholesterol and TG were observed between the two groups. Several amino acids (taurine, cystine, phosphoserine) were found to be higher in the HD patients, while the concentrations of other five amino acids (serine, alanine, valine, leucine, tyrosine) were lowered in HD patients. No differences in nine amino acids (asparagine, glutamine, proline, glycine, methionine, isoleucine, lysine, histidine, arginine) were observed between the two groups. Conclusion: Our results suggest that chronic renal failure patients have malnutrition and amino acids abnormalities. To correct the amino acids abnormalities and improve nitrogen utilization in hemodialysis patients, correction of acidosis and supplementation of the diet with serine should be considered.(Korean J Med 62:522-529, 2002)

혈액투석을 받는 만성콩팥병 환자에서 Ochrobactrum antoropi에 의한 감염성 심내막염의 경험 1례

고희자 ( Hee Ja Ko ),이은정 ( Eun Jung Lee ),김태형 ( Tae Hyong Kim ),조아라 ( A Ra Cho ),박연희 ( Yon Hee Park ),전진석 ( Jin Seok Jeon ),최태윤 ( Tae Youn Choi ) 대한신장학회 2009 Kidney Research and Clinical Practice Vol.28 No.6

Ochrobactrum anthropi is an aerobic, gram-negative, motile, non-lactose-fermenting, oxidase-producing, and urease-positive bacillus. We reported a case of aortic valve endocarditis due to O. anthropi in a hemodialysis patient. To our knowledge, this is the first case of O. anthropi endocarditis in a hemodialysis patient in Korea. The organism was resistant to β-lactam antibiotics and susceptible to ciprofloxacin, amikacin, trimethoprim-sulfamethoxazole, gentamicin and carbapenem. We treated O. anthropi endocarditis with meropenem for 6 weeks and the patient recovered completely.

양파의 알코올 추출물이 코콜레스테롤혈증 환자의 지질 성상에 미치는 영향

남경희(Nam Kyung Hui),백현욱(Baik Hyun Wook),최태윤(Choi Tae Youn),윤순규(Yoon Soon Gyu),박세원(Park Se Won),정효지(Joung Hyojee) 韓國營養學會 2007 Journal of Nutrition and Health Vol.40 No.3

It is known that onion increases anti oxidative and antibiotic capacity, and decreases blood pressure and cholesterol levels. The study was carried out to investigate whether ethanol extract of onion can enhance blood lipid profiles in hypercholesterolemic patients. Fourty three hypercholesterolemic patients were randomly divided into 2 groups; 25 in controls and 18 in experimental group. The control group was offered to take placebo for 4 weeks (200 ㎖/day), and experimental group was offered to consume ethanol extract of onion for 8 weeks (200 ㎖/day that corresponds to 500 g of onion). There were no differences in sex, age, body mass index (BMI) and educational levels between groups before treatment. After 8 weeks of onion extract consumption, plasma triglycerides level was significantly decreased in experimental group compared to control (p<0.05). Total cholesterol level was tended to decrease in experimental group, but there was no significant difference of change between control and experimental group. The levels of plasma glucose and LDL-cholesterol were not changed significantly after onion extract consumption. In summary, alcohol extract of onion may have a positive effect on the lipid profiles of hypercholesterolemia patients through decreasing plasma triglyceride concentration. (Korean J Nutr 2007; 40(3): 242~248)

한국에서의 유전성 대사 질환에 대한 탄뎀 매스 검사의 경제성 분석

류형옥(Hyoung Ock Ryu),이동환(Dong Hwan Lee),최태윤(Tae Youn Choi),윤혜란(Hye-Ran Yoon) 대한의학유전학회 2007 대한의학유전학회지 Vol.4 No.1

탄뎀 매스를 이용한 신생아 대사 이상 검사는 여과지에 묻힌 소량의 혈액으로 기존의 스크리닝 검사로는 진단되지 않는 30여 종의 아미노산 대사 이상 질환, 유기산 대사 이상 질환, 그리고 여러 지방산 대사 이상 질환을 선별할 수 있는 효과적인 방법이다. 연구자들은 이러한 탄뎀 매스 검사를 집단 선별 검사로 사용하였을 경우 경제적 효용성에 대해 알아보았다. 2001년 4월부터 2004년 3월까지 3년 간 총 79,179명의 정상 신생아를 대상으로 탄뎀 매스 검사를 시행하였다. 탄뎀 매스 검사를 이용하여 선별 검사를 한 경우, 탄뎀 매스 검사비용 및 질환이 진단되었을 때의 입원비, 각종 검사료, 특수분유 비용, 각 질환에 따른 치료비를 합하여 계산하였고, 탄뎀 매스 검사를 시행하지 않은 경우에는 발생한 정신지체아의 보호 양육비 및 이들이 정상적인 생활을 하였을 경우 이들의 노동력을 합한 비용을 계산하여 비교분석하였다. 79,179명의 건강한 신생아 가운데 유전성 대사 이상 질환으로 진단받은 신생아는 총 28명으로 2,827명 당 1명이었다. 이 중 아미노산 대사 이상 질환은 총 13례로 각각 페닐케톤뇨증 4례, tetrahydrobiopterin (BH4) 결손증 2례, 시트룰린혈증 3례, 타이로신혈증 1례, 단풍당뇨증 2례, 고오르니틴혈증-고암모니아혈증-고호모시트룰린혈증증후군(hyperammone mia-hyperornithinemia-homocitrullinemia syndrome, HHH syndrome) 1례가 발견되었고, 유기산 대사 이상 질환은 총 10례로 프로피온산뇨증 4례, 이소발레릭산뇨증 3례, 3-methylcrotonylglycinemia 1례, 글루타릭산뇨증 1형 1례가 발견되었으며, 지방산 대사 이상 질환은 총 5례로 long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) 결손증 3례, very long chain acyl-CoA dehydrogenase (VLCAD) 결손증 1례, short-chain acyl-CoA dehydrogenase (SCAD) 결손증 1례가 발견되었다. 탄뎀 매스 검사를 시행하였을 때와 시행하지 않았을 때 들어가는 총 비용을 비교한 결과, 페닐케톤뇨증은 1:2.26, BH4 결손증은 1:1.68, 시트룰린혈증은 1:3.74, 단풍당뇨증은 1:4.54, 프로피온산뇨증은 1:2.24, 이소발레릭산뇨증은 1:2.66, 글루타린산뇨증 1형은 1:0.39, LCHAD 결손증은 1:5.03로 탄뎀 매스 검사를 시행하는 것이 시행하지 않는 것 보다 경제적 이득이 있는 것으로 나타났으며, 50만 명의 신생아 모두에게 탄뎀 매스 검사를 시행하더라도 전체적으로 1.40배의 경제적 이득이 발생함을 알 수 있었다. 또한 탄뎀 매스 검사는 97.67%의 민감도와 99.28%의 특이도를 나타내었고, 0.05%의 재검률(recall rate)과 6.38%의 양성 예측치를 나타내어 진단적인 가치가 우수함을 알 수 있었다. 유전성 대상 질환에 대한 집단 선별 검사로써의 탄뎀 매스검사를 시행하는 것이 시행하지 않는 것 보다 경제적임을 알 수 있다. Purpose : Tandem mass spectrometry (M S/M S) is effective screening test for inherited metabolic diseases. In this study, we estimate potential costs and benefits of using tandem mass spectrometry (M S/ M S) to screen newborns for inherited metabolic diseases (phenylketonuria, BH4 deficiency, citrullinemia, maple syrup urine disease, propionic aciduria, isovaleric aciduria, glutaric aciduria type 1, LCHAD deficiency) in Korea. Methods : From April 2001 to March 2004, 79,179 newborns were screened for amino acid disorders, organic acid disorders, and fatty acid oxidative disorders. Twenty-eight newborns were diagnosed with one of the metabolic disorder and the collective estimated prevalence amounted to 1 in 2,800 with a sensitivity of 97.67%, a specificity of 99.28%, a recall rate of 0.05%, and a positive preditive value of 6.38%. We calculated and compared the total costs in case when neonatal screening on phenylketonuria, BH4 deficiency, citrullinemia, maple syrup urine disease, propionic aciduria, isovaleric aciduria, glutaric aciduria type 1, LCHAD deficiency is implemented, and when not. Results : If the neonatal screening on phenylketonuria, BH4 deficiency, citrullinemia, maple syrup urine disease, propionic aciduria, isovaleric aciduria, glutaric aciduria type 1, LCHAD deficiency is implemented, total benefits far exceed costs at a ratio of 1.40:1. Conclusion : Although, this study only concerns the monetary aspects of the neonatal screening, tandem mass spcetrometry for neonatal screening is cost-effective compared with not screening. The study appears to support the introduction of tandem mass spectrometry into a Korea neonatal screening programme for inherited metabolic diseases.