• 대한유전성대사질환학회지
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• 제12권1호
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• pp.23-34
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• 2012

목적: 발작은 소아기에 상당히 흔한 임상 증상으로 급성증상성발작은 대뇌의 구조적변화, 염증, 및 대사이상 등이 원인이 될 수 있다. 대사이상을 일으킬 수 있는 대사장애 질환들로는 유기산대사이상질환군, 리소솜축적질환군, 퍼옥시솜대사이상질환군, 미량원소의 이상질환군 등이 있다. 저자들은 발작을 일으키는 유기산대사이상 질환들의 중요성을 알아보기 위하여 본 연구를 시행하였다. 방법: 2007년 1월1일부터 2011년 12월 31일까지 만 5년 동안 유기산분석이 의뢰되었던 1,306명의 환자를 2개월까지의 신생아기, 2세까지의 영아기, 12세까지의 소아기 및 12세 이후의 청소년기이후의 4군으로 나누고, 발작의 형태는 전신발작, 국소발작 및 복합발작으로 나눴으며, 발달지연의 유무에 따라 SPSS의 student's t test를 이용하여 후향적으로 분석하였다. 결과: 전체적으로 1,306명의 환자에서 유기산분석에서 비정상소견을 보인 경우가 665명(51%)이었으며, MRCD가 394명(30.1%), mandelic aciduria가 127명(9.7%), 케톤분해이상이 81명(6.2%), 3-hydroxyisobutyric aciduria가 19명(1.4%), glutaric aciduria type II가 10명(0.8%) 이었고 뒤를 이어 ethylmalonic aciduria 4명, propionic aciduria 4명이었으며, 3명의 환자가 진단된 질환들이 methylmalonic aciduria, glutaric aciduria type I, pyruvate dehydrogenase deficiency, pyruvate carboxylase deficiency 등이 있었으며, 2례씩 진단된 질환들이 isovaleric aciduria, HMG-CoA lyase deficiency, 3-methylcrotonylglycinuria, fatty acid oxidation disorders 등이 있었고, 1례씩 진단된 질환들로 fumaric aciduria, citrullinemia, CPS deficiency, MCAD deficiency 등이 있었다. 결론: 신생아기에는 감염으로 인한 mandelic aciduriad의 빈도가 의미 있게 높았고, 전연령군에서 MRCD의 중요성이 큰 것으로 파악되었다. 신생아기이후에도 다양한 유기산대사이상들의 진단이 되고 있어 기본검사의 중요성이 높았으며, 증상이 있을 때의 초기검체를 이용한 검사가 중요하다고 판단되었다.

• Journal of Preventive Medicine and Public Health
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• 제23권3호
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• pp.345-357
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• 1990

Accumulated data on medical care utilization among the insured in Korea Medical Insurance Corporation can explain the health status of the population. The purpose of this study was to analyze a change of the disease-mix and utilization pattern by controlling the size of the population enrollment. Major findings of the study are as follows : 1. The changes of inpatient disease-mix a. Utilization rate was 139.2% in 1988 against 1980. b. Disease groups higher than the average utilization rate included neoplasms, endocrine, nutritional and metabolic diseases and immunity disorders, mental disorders etc. Meanwhile, disease groups seen less often were infections and parasistic diseases, diseases of blood and bloodforming, diseases of the digestive system etc. c. Utilization rate was up 106.3% in 1988 compared to 1985, and diseases above that average level were ill-defined intestinal infections, chronic liver disease and cirrhosis, diabetes mellitus, essential hypertension, etc. d. The disease-mix by institution in 1988 compared to 1985 shows that chronic disorders rank high in general hospitals whereas opthalmologic, obstetric, and orthopedic diseases rank high in private clinics. 2. The changes of outpatient disease-mix a. Utilization rate was up 175.2% in 1988 compared to 1980. b. Disease groups higher than the average utilization rate included neoplasms, endocrine, nutritional and metabolic diseases and immunity disorders, mental disorders etc. And disease groups seen less often were infections and parasistic diseases, diseases of the respiratory system, diseases of the genitourinary system. etc. c. Utilization rate was up 104.0% in 1988 compared to 1985, and diseases above that average level were gastric ulcer, diseases of hard tissues of teeth, etc. And diseases seen below that average level were acute nasopharyngitis(common cold). acute upper respiratory infections of multiple or unspecified sites, etc. It was concluded that medical care utilization level was increased, and that, from 1980 to 1988, disease-mix shifted to the chronic disorders. Chronic disorders accounted for more medical care utilization in general hospitals.

• 한국건강관리협회지
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• 제2권3호
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• pp.63-72
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• 2004

• 고려인삼학회:학술대회논문집
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• 고려인삼학회 1993년도 학술대회지
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• pp.3-13
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• 1993

• 한국건강관리협회지
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• 제2권2호
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• pp.209-214
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• 2004

• Journal of mucopolysaccharidosis and rare diseases
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• 제4권1호
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• pp.1-6
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• 2018

Lysosomal storage disorders are a group of rare inherited metabolic disorders with protean manifestations and variable severity ranging from attenuated forms to severe ones. It is necessary to diagnose and manage these disorders timely before irreversible damage occurs. Prior to the era of enzyme replacement therapy and newer therapeutics, only treatment option available was palliative care. Over the past two decades, extensive research in the lysosomal storage disorders has led to substantial expansion of our understanding about them. This mini review focusses on the spectrum, challenges faced in the diagnosis and therapy and remedial actions taken so far in lysosomal storage disorders in resource constrained country like India.

• 대한한방내과학회지
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• 제30권4호
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• pp.761-771
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• 2009

Objectives : The aim of this study was to assess the relationship between metabolic syndrome and erythrocyte deform ability in acute stroke patients. Methods : Among 88 of the recruited patients, 52 were diagnosed as metabolic syndrome. We assessed their general characteristics, risk factors. We compared the assessed variables between metabolic syndrome and control group. We analyzed the relationship between metabolic syndrome and erythrocyte deform ability. We analyzed relationship between cardiovascular risk factors and erythrocyte deformability. Results : The general characteristics waist and hip circumference, waist/hip ratio were higher in metabolic syndrome group. The metabolic syndrome group was also diagnosed with hypertension, DM, and hyperlipidemia more often than the control group. The blood test metabolic syndrome group showed higher triglycerides, total lipids, fasting blood sugar, and 2 hours postprandial plasma glucose level and lower HDL-cholesterol than the control group. There were more patients diagnosed with Dampness-Phlegm in the metabolic syndrome group. There were more patients showing lower erythrocyte deform ability in the metabolic syndrome group. The plasma homocysteine level was negatively correlated with erythrocyte deform ability. Conclusion : The results reconfirmed that the risk factors are more in metabolic syndrome group. The results indicated that metabolic syndrome lead to a lower erythrocyte deform ability in small vessel disease stroke patients. The Plasma homocysteine level was negatively correlated with erythrocyte deform ability.

• 대한유전성대사질환학회지
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• 제18권2호
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• pp.35-42
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• 2018

목적: 한국 유전학 연구소에서 실시한 광범위 신생아 스크리닝 검사(Newborn screening, NBS)로 진단된 선천성 대사질환 및 내분비질환을 가진 한국인 환아의 추적 관찰 및 장기적인 예후를 평가하기 위하여 본 연구를 시작하였다. 방법: 2000년 1월부터 2017년 12월까지 태어난 283,626명의 신생아를 대상으로 하였으며 출생 48시간 이후에 발뒤꿈치, 혹은 정맥혈액을 채취하여 특수여과지에 묻혀 건조시켰다. 건조 혈액여지를(Dried blood spot, DBS) 이용하여 탠덤 질량 분석법과 형광 면역 측정법을 사용하여 광범위 신생아 스크리닝 검사(NBS)를 실시하였다. 신생아 스크리닝 선별검사 프로그램은 갈락토오스 혈증, 선천성 갑상선 기능 저하(Congenital hypothyroidism, CH), 선천성 부신 과형성증(Congenital adrenal hyperplasia, CAH), 아미노산, 지방산 및 유기산 대사질환등 예방 가능한 질환 50여종을 선별하여 검사를 시행하였다. 결과: 광범위 신생아 스크리닝 검사(Extended NBS)를 통해 아미노산 대사질환 28예, 유기산 대사질환 75예, 지방산 대사질환 27예, 요소회로 대사질환 51예, CH 127예, CAH 14예, 갈락토스혈증 15예가 선별하여 확진검사로 진단되었다. 아미노산 대사 장애, 갈락토스혈증, CH, CAH 환자는 조기에 발견 치료 할 경우 예후가 더 좋았다. 단풍당뇨(MSUD) 환아에서는 조기 진단 치료로 90% 이상이 정상 성장 발달을 보였다. 그러나 유기산 혈증 환아에서는 32%에서 발달 지연 및 신경학적 휴유증이 관찰되었다. 지방산 대사 질환에서는 다양한 결과가 나타났다. 단쇄지방산(SCAD, EMA)와 중쇄지방산(MCA, MCAD) 환자는 예후가 좋았으나 초장쇄지방산(VLCAD) 환자는 대부분 심각한 신경학적 장애를 보이거나 사망하였다. 요소회로 대사질환(UCD) 환아는 조기진단과 치료에도 불구하고 75%가 심각한 신경학적 합병증과 높은 사망률을 경험했다. 결론: 전국적인 신생아 스크리닝(NBS) 프로그램은 국가적인 차원에서 전국민을 대상으로 포괄적인 검사, 관리, 치료가 필요하다. 이를 위하여 숙련된 의료진과 환아의 부모 혹은 관련된 가족에 대한 특수교육이 필요하다.

• Natural Product Sciences
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• 제19권1호
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• pp.1-7
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• 2013

AMP-activated protein kinase (AMPK) is a major cellular energy sensor and master regulator of metabolic homeostasis. On activation, this cellular fuel sensing enzyme induces a series of metabolic changes to balance energy consumption via multiple downstream signaling pathways controlling nutrient uptake and energy metabolism. This pivotal role of AMPK has led to the development of numerous AMPK activators which might be used as novel drug candidates in the treatment of AMPK related disorders, diabetes, obesity, and other metabolic diseases. Consequently, a number of patents have been published on AMPK activators from natural products and other sources. This review covers the patented AMPK activators from natural products and their therapeutic potential in treatment or prevention of metabolic diseases including diabetes and obesity.

• 대한유전성대사질환학회지
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• 제5권1호
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• pp.94-107
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• 2005

Prenatal diagnosis (PND) such as amniocentesis or chorionic villi sampling has been widely used in order to prevent the birth of babies with defects especially in families with single gene disorderor chromosomal abnormalities. Preimplantation genetic diagnosis (PGD) has already become an alternative to traditional PND. Indications for PGD have expanded beyond those practices in PND (chromosomal abnormalities, single gene defects), such as late-onset diseases with genetic predisposition, and HLA typing for stem cell transplantation to affected sibling. After in vitro fertilization, the biopsied blastomere from the embryo is analyzed for single gene defect or chromosomal abnormality. The unaffected embryos are selected for transfer to the uterine cavity. Therefore, PGD has an advantage over PND as it can avoid the risk of pregnancy termination. In this review, PGD will be introduced and application of PGD in inborn error metabolic disorder will be discussed.