간기능 이상을 초래하는 유전성 대사질환

유한욱,Yoo, Han-Wook 대한유전성대사질환학회 2013 대한유전성대사질환학회지 Vol.13 No.1

Inborn error of metabolism usually presents with a constellation of clinical pictures involving multiorgan systems. Because of its rarity and clinical diversity, it is difficult to make diagnosis accurately and efficiently. Many inborn error of metabolism shows predominantly hepatic symptoms and signs. The onset of symptoms is also varying depending the disease. The onset might be even prenatal, either neonatal or infantile, and late childhood. The major manifestation patterns are jaundice or cholestasis, hepatomegaly with or without splenomegaly, hypoglycemia and acute or chronic hepatocellular dysfunction. Based on pronounced hepatic symptoms and onset of symptoms, differential diagnosis can be more easily made with subsequent further laboratory investigation. In this review paper, major inborn error of metabolism with hepatic symptoms are described from the perspective of mode of clinical presentations.

노동수요 측면의 임금보조정책 연구

유한욱 한국개발연구원 2011 KDI Journal of Economic Policy (KDI JEP) Vol.33 No.2

As the ‘jobless growth’ is developing into a worldwide phenomenon, many countries try to recover a virtuous relationship between the growth and employment using various wage subsidy programs. This study focuses on wage subsidy to employers, labor demand-side wage subsidy for which one can think of two types-a tax credit(a flat wage subsidy) and a social insurance premium exemption(a proportional wage subsidy). For job creation, Korean government reintroduced a tax credit to small and medium-sized enterprises(SMEs) which have increased their employment level in 2010. But many experts has continuously insisted that it should be replaced with a social insurance premium exemption arguing only a few SMEs benefit from the tax credit as most of them are actually not paying any corporate or general income tax bills. However, as the insurance premium exemption accompanies an increase in the amount of budget with the coverage widen, one cannot confirm its cost effectiveness over the tax credit. This paper aims to provide a theoretical analysis to derive some formal conditions under which a social insurance premium exemption creates more jobs than a tax credit does given a budget constraint. We show that the former’s dominance over the latter depends on whether there exists a dead zone of social insurance or not. If there does not exist a dead zone, a social insurance premium exemption is more desirable in many cases, whereas one cannot guarantees its dominance over a tax credit if there exists a dead zone. Therefore in order to realize its dominance, the government should minimize a dead zone so that most SMEs effectively benefit from the insurance premium exemption. In addition, applying discriminative exemption rates which reflect each firm’s job conditions such as wage level and labor demand/supply sensitivity, the government try to enhance job creation effect. 고용창출효과를 제고하기 위해서 노동수요 측면의 임금보조를 현행 세액공제 방식에서 사회보험료감면 방식으로 대체해야 한다는 주장이 지속적으로 제기되고 있는 상황에서, 본 연구는 이론분석을 통해 이러한 주장의 타당성을 과학적으로 검증하기 위해 수행되었다. 분석 결과, 사회보험료감면 방식의 우월 여부는 사회보험 사각지대 존재 여부에 따라 다르게 나타나는데, 사각지대가 존재하지 않는 경우 사회보험료감면 방식이 고용창출 측면에서 세액공제 방식보다 우월하나, 사각지대가존재하는 경우에는 사회보험료감면 방식의 우월성이 보장될 수 없다. 따라서 사회보험료감면 방식의 우월성을 구현하기 위해서는 사회보험 사각지대를 최소화함으로써 모든 기업이 임금보조 혜택을 받을 수 있는 토대를 마련하는 것이 긴요하다. 또한 기업별 고용여건(임금수준, 고용반응도 등)을 고려하여 감면비율을 차등적용함으로써 고용창출효과 극대화를 도모할 필요가 있다.

유전성 대사질환의 임상증상과 진단

유한욱,Yoo, Han-Wook 대한유전성대사질환학회 2013 대한유전성대사질환학회지 Vol.13 No.1

Inherited metabolic disorders are individually rare but as a whole, they are nor rare. Since Archibald Garrod introduced a concept of "inborn error of metabolism" or "chemical individuality", more than 600 diseases are currently known, affecting approximately one in 500 newborns cumulatively. They frequently manifest with acute, life-threatening crisis that requires immediate specific intervention or they present with insidious diverse symptoms and signs involving multiple visceral organs or tissues as well as central nervous system, hampering a correct diagnosis. In addition, many pediatricians are not familiar with all diagnostic and therapeutic strategies for diverse inherited metabolic disorders. However, the prognosis of affected children are heavily dependent on rapid and effective treatment. In this lecture, practical guidelines for the specific diagnosis based on diverse clinical features of inherited metabolic disorders will be described. Many sophisticated laboratory tests are available for the confirmatory diagnosis of each disease, which is challenging to general pediatricians with respect to knowledge about biochemical metabolite assay test, enzymatic test and DNA diagnostic tests. Sample collections, indications, methods and interpretation of results in varying laboratory tests will be listed as well.

도시 안전을 위한 경기도의 노력과 성과

유한욱 한국셉테드학회 2013 한국셉테드학회 학술대회 Vol.2013 No.2

A case of Mowat–Wilson syndrome with developmental delays and Hirschsprung’s disease

유한욱,이다래,김자혜,조자항,오문연,이범희,김구환,최진호 대한의학유전학회 2014 대한의학유전학회지 Vol.11 No.2

Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facialdysmorphism, Hirschsprung’s disease, and other congenital anomalies. This disorder is caused by heterozygous mutationsor deletions in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Thus far, approximately 200 cases of Mowat-Wilsonsyndrome have been reported worldwide. In Korea, only one case with a 2q22 deletion, which also affects ZEB2, has beenpreviously reported. Here, we describe a patient with Mowat-Wilson syndrome who presented with developmental delays,typical facial dysmorphism, and Hirschsprung’s disease. Molecular analysis of ZEB2 identified a novel heterozygous mutationat c.190dup (p.S64Kfs*6). To our knowledge, this is the second report of a Korean patient with Mowat-Wilson syndrome thathas been confirmed genetically.

파브리병에 대한 임상적 개괄

유한욱,Yoo, Han-Wook 대한유전성대사질환학회 2012 대한유전성대사질환학회지 Vol.12 No.2

유전성 대사질환의 임상증상과 진단

유한욱 대한소아청소년과학회 2006 Clinical and Experimental Pediatrics (CEP) Vol.49 No.11

Inherited metabolic disorders are individually rare but as a whole, they are nor rare. Since Archibald Garrod introduced a concept of “inborn error of metabolism” or “chemical individuality”, more than 500 diseases are currently known, affecting approximately one in 500 newborns cumulatively. They frequently manifest with acute, life-threatening crisis that require immediate specific intervention or they present with insidious diverse symptoms and signs involving multiple visceral organs or tissues as well as central nervous system, hampering a correct diagnosis. In addition, many pediatricians are not familiar with all diagnostic and therapeutic strategies for diverse inherited metabolic disorders. However, the prognosis of affected children are heavily dependent on rapid and effective treatment. In this lecture, practical guidelines for the specific diagnosis based on diverse clinical features of inherited metabolic disorders will be described. Many sophisticated laboratory tests are available for confirmatory diagnosis of each disease, which challenge to general pediatricians with respect to knowledge about biochemical metabolite assay test, enzymatic test and DNA diagnostic tests. Sample collections, indications, methods and interpretation of results in varying laboratory tests will be listed as well.

노동수요 측면의 임금보조정책 연구

유한욱,YOO, Hanwook 한국개발연구원 2011 韓國 開發 硏究 Vol.33 No.2

고용창출효과를 제고하기 위해서 노동 수요 측면의 임금보조를 현행 세액공제 방식에서 사회보험료감면 방식으로 대체해야 한다는 주장이 지속적으로 제기되고 있는 상황에서, 본 연구는 이론분석을 통해 이러한 주장의 타당성을 과학적으로 검증하기 위해 수행되었다. 분석 결과, 사회보험료감면 방식의 우월 여부는 사회보험 사각지대 존재 여부에 따라 다르게 나타나는데, 사각지대가 존재하지 않는 경우 사회보험료감면 방식이 고용창출 측면에서 세액공제 방식보다 우월하나, 사각지대가 존재하는 경우에는 사회보험료감면 방식의 우월성이 보장될 수 없다. 따라서 사회보험료감면 방식의 우월성을 구현하기 위해서는 사회보험 사각지대를 최소화함으로써 모든 기업이 임금보조 혜택을 받을 수 있는 토대를 마련하는 것이 긴요하다. 또한 기업별 고용여건(임금수준, 고용반응도 등)을 고려하여 감면비율을 차등적용함으로써 고용창출효과 극대화를 도모할 필요가 있다. As the 'jobless growth' is developing into a worldwide phenomenon, many countries try to recover a virtuous relationship between the growth and employment using various wage subsidy programs. This study focuses on wage subsidy to employers, labor demand-side wage subsidy for which one can think of two types-a tax credit(a flat wage subsidy) and a social insurance premium exemption(a proportional wage subsidy). For job creation, Korean government reintroduced a tax credit to small and medium-sized enterprises(SMEs) which have increased their employment level in 2010. But many experts has continuously insisted that it should be replaced with a social insurance premium exemption arguing only a few SMEs benefit from the tax credit as most of them are actually not paying any corporate or general income tax bills. However, as the insurance premium exemption accompanies an increase in the amount of budget with the coverage widen, one cannot confirm its cost effectiveness over the tax credit. This paper aims to provide a theoretical analysis to derive some formal conditions under which a social insurance premium exemption creates more jobs than a tax credit does given a budget constraint. We show that the former's dominance over the latter depends on whether there exists a dead zone of social insurance or not. If there does not exist a dead zone, a social insurance premium exemption is more desirable in many cases, whereas one cannot guarantees its dominance over a tax credit if there exists a dead zone. Therefore in order to realize its dominance, the government should minimize a dead zone so that most SMEs effectively benefit from the insurance premium exemption. In addition, applying discriminative exemption rates which reflect each firm's job conditions such as wage level and labor demand/supply sensitivity, the government try to enhance job creation effect.

Caucher 환자의 효소 대치요법에 따른 Chititriosidase 활성도 변화

유한욱,임대성,양송현,YOO, Han Wook,IM, Dae Seong,YANG, Song Hyun 대한유전성대사질환학회 2006 대한유전성대사질환학회지 Vol.6 No.1

Gaucher disease is an inherited disorder due to a deficiency in the activity of glucocerebrosidase (EC. 3.2.1.45) by genetic mutation which resulted from missense, nonsense, frameshift, deletion in long arm 21 of chromosome 1 (1q21). Gaucher disease is classified into the main three types as type 1 (nonneuronopathic), type 2 (acute neuronopathic) and type 3 (subacute neuronopathic) according to the progressive phase of manifestations and nervous system involvement. Gaucher disease patients had been treated by using the method as splenectomy and bone marrow transplantation. But enzyme replacement therapy as a more effective treatment has been available since the early 1990's. In order to treat Gaucher disease efficiently by using ERT, it is necessary to chase the progress of the therapy. In this study, therefore, we tried to chase the progress of the ERT by using the measurement of chitotriosidase activity in Gaucher disease patients.

영유아의 당뇨병 발병과 관리

유한욱 사단법인 한국당뇨협회 1997 당뇨 Vol.93 No.-