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FAH gene novel mutation을 가진 만성형 Hereditary tyrosinemia 1형
양성민,최효원,강윤구,이진성,남궁미경,Yang, Sungmin,Choi, Hyo Won,Kang, Yun Koo,Lee, Jin-Sung,Namgoong, Mee Kyung 대한유전성대사질환학회 2020 대한유전성대사질환학회지 Vol.20 No.2
HT-1은 FAH의 돌연변이에 의한 FAH의 결함으로 타이로신 대사의 중간산물인 FAA, SA가 간세포, 신세뇨관 세포에 축적되어 증상을 일으키는 대사이상 질환의 일종이다. 생후 6개월 내에 증상이 발현되는 급성형의 경우 간기능 저하에 따른 간부전, 응고장애, Fanconi 증후군, FAA 축적에 의한 델타-아미노레부릭산 탈수효소의 기능 저하에 의한 포르피린증 유사 증상이 발생한다. 증상이 생후 12개월 이후 발현되는 만성형의 경우 간경화, 간세포암종, 저인산혈증 구루병, 인지기능 저하와 같은 증상이 발생할 수 있다. 본 증례는 생후 20개월 경 간비장비대, 내반슬, 대상산증으로 대사이상질환 감별을 위하여 시행한 탠덤매스 분석에서 특이 소견이 보고되지 않았으나, 57개월에 시행한 복부 초음파 검사에서 간경화, 소변 유기산 분석에서 SA 상승, NGS에서 FAH 돌연변이 c.107T>C (p.Ile 36Thr), c.614T>C (pPhe205Ser)가 확인되어 HT-1이 진단된 증례로, 환아는 현재까지 NTBC 및 단백제한식이를 유지하며 특이 합병증 없이 외래 추적관찰 중이다. HT-1은 혈장 타이로신 농도가 증가하지 않는 경우도 있으며, 만성형의 경우 임상양상이 생후 12개월 이후에 나타나므로 탠덤매스 검사에서 음성 소견이 보고되어도 임상적으로 의심되는 경우 소변 유기산 분석과 같은 추가적 검사가 필요하다. 또한 기존의 탠덤매스 분석을 통하여는 HT-1이 진단되지 않는 경우가 있을 수 있어, 신생아 선별검사에서 혈장 타이로신 농도뿐 아니라 SA 농도도 추가로 확인하는 것의 비용 편익에 대한 추가적 연구가 필요하다. A 22-month-old girl who had taken iron supplements due to iron deficiency anemia, presented bloody mucoid stool for one month. She had a bruise at the right periorbital area due to minor trauma and hepatosplenomegaly. Laboratory studies showed anemia, thrombocytopenia, elevated alkaline phosphatase (ALP), hypophosphatemia, decreased haptoglobin, hypocomplementemia, negative direct/indirect Coomb's test, normal vitamin D3 level and high PTHi. Wrist x-ray showed no signs of rickets. The abdominal ultrasound showed only accessory spleen. Tandem mass spectrometry was normal. During follow up, bloody stool regressed after seven days of withdrawal of iron supplement and cow milk, and the total CO2 level had been within 15-20 mEq/L with normal anion gap. NGS (next generation sequencing) panel test for evaluation of renal tubular acidosis showed negative results. After low dose steroid and vitamin D supplements under the impression of hypocomplementemic vasculitis, thrombocytopenia, C3/C4, decreased haptoglobin, and elevated ALP level became normal. At 57 months of age, laboratory findings showed elevated liver enzyme, ALP and gamma-glutamyl transferase again. And liver cirrhosis with splenomegaly and diffuse renal disease were reported with abdomen CT scan. Liver biopsy reported macro- and micronodular cirrhosis. Urine organic acid profile showed elevated succinylacetone level. Whole exome sequencing revealed novel compound heterozygous mutations (NM_00137.2:c.107T>C, NM_00137, 2:c.614T>C) in FAH gene and confirmed by Sanger sequencing. Consequently, the patient was diagnosed as chronic hereditary tyrosinemia type I. She started low phenylalanine/tyrosine diet and nitisinone treatment. Our case had presented symptoms very slowly, which is the first case of chronic tyrosinemia type I in South Korea.
다기능을 갖는 기계의 Job-Shop Scheduling
양성민 경성대학교 생산기술연구소 1994 생산기술연구지 Vol.1 No.-
This study is concerned with job-shop scheduling for a production system with multi-functional machines. The objetive is to develop and evaluate heuristic algorithms that optimize make-span. mean flowtime and machine utilization. A numerical example illustrates the proposed MPTMF algorithm. The result shows that the our algorithm provides better solution in multiple performance measures than another heuristic alogorithms.
양성민 경성대학교 공학기술연구소 2003 공학기술연구지 Vol.S2 No.2
This study considers a SCM inventory system and RFID technology. We review the general overview of RFID technique and SCM inventory problem. We find a RFID technology about a SCM inventory problem. Also we find out the effect of a RFID technology introduction. We present an introduction plan of RFID technique at SCM optimization.
양성민 경성대학교 공학기술연구소 1999 공학기술연구지 Vol.6 No.-
This study is concerned with job shop scheduling for a production system with multi-functional machines. The purpose of this study is to develop the heuristic algorithm using tabu search for job shop scheduling to optimize make-span, mean flow time or machine utilization. To apply tabu search for multi-functional job shop scheduling, in this study we propose the appropriate definitions of tabu attributes and a efficient method that generates the neighborhood solution, and present a rescheduling procedure that yields active schedules, and discuss the tabu search techniques of diversifying the search of solution space.
양성민 경성대학교 생산기술연구소 1997 생산기술연구지 Vol.4 No.-
This study considers a scheduling problem with ready times for multi-functional machines. The objective is to develop and evaluate heuristic algorithms that optimize the make-span, the mean flow time and the machine utilization. A numerical example illustrates the proposed heuristic algorithm. The result shows that the our algorithm provides better solution in multiple performance measures than another heuristic algorithms.
양성민 경성대학교 공학기술연구소 2002 공학기술연구지 Vol.9 No.-
This study is concerned with a operating system for a Call Center. The purpose of this study is to design an optimal operating system for a general call taxi type call center using simulation stduy. To design an optimal operating system, we must decide the number of staffs and the member size of service facilities satisfying customer's service level. To analyze a call center system, we introduce a simulation study using ARENA and SIMAN. And a Case study for B Call Center in Busan is performed.
모바일 서비스 SCM의 최적화 연구 : 다단계 재고관리 시스템 Multi-Echelon Inventory System
양성민,한상근 경성대학교 공학기술연구소 2003 공학기술연구지 Vol.10 No.-
This study is concerned with a multi-echelon inventory system for Supply Chain Management. The purpose of this study is to analyze and construct a multi-echelon inventory system. To analyze and construct multi-echelon inventory system for the Supply Chain, we apply the information technology such as IDEF and UML rather than the optimization theory. These information approach method are appropriate for the Supply Chain.
양성민 경성대학교 공학기술연구소 2003 공학기술연구지 Vol.S1 No.2
This study considers a operating system for a Call Center. The purpose of this study is to analyze optimal operating system for a general call taxi type call center using ARENA simulation study. To analyze an optimal operating system, we must decide the number of staffs, telephone lines and the member size of service facilities satisfying customer's service level. This study also develops a ARENA simulation model for B Call Center in Busan.