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세 명의 대한민국 제 V형 당원축적근육병(McArdle 병) 환자들의 유전학적 및 임상적 특성 보고
이성희,강은구,김윤명,이범희,김구환,유한욱,Lee, Sunghee,Kang, Eungu,Kim, Yoonmyung,Lee, Beom Hee,Kim, Gu Hwan,Yoo, Han Wook 대한유전성대사질환학회 2016 대한유전성대사질환학회지 Vol.16 No.2
목적: McArdle 병은 당원분해의 주요 속도 조절 단계인 당원인산화의 장애로 운동 초기에 적절한 에너지 공급이 이루어지지 않아 운동내성 및 근력약화가 발생하는 상염색체 열성 근육병으로, 저자의 관점 하에 현재까지 보고된 대한민국 McArdle 병은 4례로, 본 논문은 대한민국 McArdle 병 환자를 추가 보고하고 이들의 임상증상 및 유전학적 변이를 밝히고자 한다. 방법: 2006년부터 2011년까지 임상증상과 일반 혈액 및 생화학 검사, 그리고 PYGM 유전자 검사로 확진된 총 3명의 McArdle 병 환자의 전자 차트를 후향적으로 검토하여, 검사 소견, 시행된 운동요법과 약물치료, 그리고 예후를 확인하였다. 돌연변이 분석은 말초 혈액에서 분리한 DNA에서 genomic DNA를 분리하고, primer를이용해PYGM의 20개 exon과 intronic flanking 배열을 증폭한 후 전기영동으로 DNA 염기서열을 분석하였다. 결과: 세 증례의 증상 발생 평균 연령은 $10.33{\pm}4.73$ 세로, 공통적으로 심한 근육통, 근육부종을 동반한 잦은 횡문근융해증, 높은 기저 혈청 크레아틴키나아제과 마이오글로빈 농도, 뚜렷하지 않은 second wind phenomenon을 보였다. 근육생검 결과, 증례 1은 정상소견을 보였으나, 증례 2는 subsarcolemmal 공간 내 당원침착과 적색열의 퇴행 및 괴사, 증례 3은 periodic acid Schiff stain에 염색되는 물질을 갖는 공포와 내핵을 포함한 근섬유 소견을 보여 당원축적증에 합당한 양상을 보였다. 결론: PYGM 염기서열 분석 결과에서는 증례 1에서 $p.Arg50^*$;p.Trp798Arg, 증례 2에서 $p.Arg50^*$;p.Glu779 del, 증례 3에서 $p.Asp511Thrfs^*28$;p.Phe710 del 복합 이형 접합자 돌연변이를 보였다. Purpose: McArdle disease, glycogen storage disease type V (GSD V), is one of the most common adolescent-onset glycogen storage diseases. It is caused by recessive mutations in PYGM encoding myophosphorylase, which is critical to glycogen metabolism. Since only a few korean patients have been reported, we will observe the clinical and genetic features of three korean patients with McArdle disease. Methods: We retrospectively reviewed the medical records of three patients with genetically confirmed McArdle disease, including the results of forearm ischemic exercise test, electromyogram, nerve conduction velocity, muscle biopsy, and PYGM analysis in peripheral leukocytes. Results: All three cases were males and their age of symptom onset was 12, 5, 14 years old, respectively. A high basal level of serum creatine kinase was noted in all three patients. They experienced the recurrent episodes of rhabdomyolysis, but second wind phenomenon was not definite. In muscle biopsy, subsarcolemmal space vacuoles including periodic acid schiff stained materials were found in two patients, while no evidence of glycogen storage disease was found in the other. A total of five different mutations, $p.Arg50^*$, p.Trp798Arg, $p.Arg50^*$, p.Glu779del, $p.Asp511Thrfs^*28$ and p.Phe710del, were found in three patients. Avoidance of isometric exercise, aerobic exercise and glucose intake before each exercise were recommended for all patients. Conclusion: The three Korean patients with McArdle disease showed the typical manifestations of the condition. The most mutations were private. Therefore, identification of more cases with long-term follow-up will be required to understand the clinical and genetic features of this disease among Korean population.
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ALPL 유전자의 돌연변이를 가진 양성 주산기 저인산증 1례
김준일,강은구,김윤명,이범희,김구환,유한욱,Kim, Joonil,Kang, Eungu,Kim, Yoon-Myung,Lee, Beom Hee,Kim, Gu-Hwan,Yoo, Han-Wook 대한유전성대사질환학회 2016 대한유전성대사질환학회지 Vol.16 No.3
저인산증은 드문 선천성 대사 이상 질환으로, 조직-비특이 알칼리 포스파테이스(TNSALP)의 결핍으로 인해 발생한다. 상염색체 우성 혹은 열성 유전이 모두 가능하며, 발생시기에 따라서 주산기, 영아기, 아동기, 성인기로 나뉘고, 증상이 일찍 발현할수록 예후가 나쁜 것으로 알려져 있다. 혈청 알칼리 포스파테이스가 감소해 있으면서 구루병 혹은 골연화증을 보이는 환자에서 ALPL 유전자 변이를 규명하는 것이 저인산증을 진단하는 가장 확실한 방법이다. 본 증례 보고는 산전 초음파에서 장골의 이상과 출생 후 저포스파테이스증이 확인되어 ALPL 유전자 검사를 통해 양성 주산기 저인산증으로 진단된 환자 보고이다. 환자는 출생 당시 호흡곤란이나 고칼슘혈증, 피리독신 의존성 발작 등의 합병증 없이 경과가 양호하였다. 생후 12개월 이후 성장 지연이 확인되었지만, 생후 53개월까지 골격의 무기질화가 호전된 양성 경과를 가지게 되었다. 현재 재조합 TNSALP인 asfotase alfa가 개발되어 주산기 및 영아기 저인산증 환아에서 조속한 진단과 치료가 더욱 중요해진 바, 좀더 많은 환자들의 진단이 이루어져야 하겠다. Hypophosphatasia is caused by the mutations in ALPL, which encodes tissue-nonspecific alkaline phosphatase (TNSALP). It can be inherited either in an autosomal dominant or recessive manner. Clinically, hypophophosphatasia is characterized by skeletal findings similar to those in rickets or osteomalacia, but serum alkaline phosphatase levels are decreased in the affected patients. Hypophosphatasia can be classified into six clinical forms according to age at diagnosis and severity of symptoms: perinatal lethal, infantile, childhood, adult, odontohypophosphatasia, and perinatal benign. As being a very rare disease, only one case has been reported in Korean population. Here we describe a case with perinatal benign hypophosphatasia with recessive ALPL mutations. Bowing of lower legs was detected in prenatal period and low serum alkaline phosphatase level was noted after birth. During the follow-up evaluation for 4.5 years, bone mineralization and legs bowing were improved but the growth retardation was persistent. As the recombinant bone-targeted human TNSALP became available, the clinical improvement of the affected patients is expected including the case described here with this treatment. More efforts are needed to identify the cases affected by hypophosphatasia.
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정순종(Soonjong Jeong),이대수(Daesu Lee),송재성(Jaesung Song),홍원표(Younpyo Hong),강은구(Eungu Kang),최원종(Wonjong Choi) 한국생산제조학회 2005 한국생산제조시스템학회 학술발표대회 논문집 Vol.2005 No.5
This paper presents a method to reduce hysteresis in multilayer ceramic actuator by connecting the actuator with a capacitor in a series circuit. The change in hysteresis with respect to the capacitor was examined. 0.2Pb(Mg<SUB>1/3</SUB>Nb<SUB>2/3</SUB>)O₃-0.8Pb(Zr<SUB>0.475</SUB> Ti<SUB>0.525</SUB>)O₃ ceramic material was used as a piezoelectric material for the actuator. Displacement of the actuator was measured in a capacitive gap sensor measuring system. In case of inserting a capacitor in a total circuit, hysteresis became dramatically decreased, and then finally the hysteresis value can be reduced below 0.2%. It was found in this present study that reducing the hysteresis in the actuator is dependent upon the characteristics of the capacitor in total circuit and also operating frequency.
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전하 제어법을 이용한 압전 액추에이터의 스트로크이력제어
정순종(Soonjong Jeong),김민수(MinSoo Kim),이대수(Daesu Lee),박언철(Eonchul Park),홍원표(Younpyo Hong),강은구(Eungu Kang),최원종(Wonjong Choi) 한국생산제조학회 2006 한국공작기계학회 춘계학술대회논문집 Vol.2006 No.-
This paper presents a novel way to reduce hysteresis in piezoelectric actuator by connecting the actuator with a capacitor in a series circuit. The change in hysteresis with respect to the capacitor was examined. 0.2Pb(Mg1/3Nb2/3)O₃-0.8Pb(Zr?.₄?? Ti?.?₂?)O₃ ceramic material was used as a piezoelectric material for the actuator. Displacement of the actuator was measured in a capacitive gap sensor measuring system. In case of inserting a capacitor in a total circuit, hysteresis became dramatically decreased, and then finally the hysteresis value can be reduced below 0.3%.
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전하 제어법을 이용한 압전 액추에이터의 스트로크이력제어
정순종(Soonjong Jeong),김민수(MinSoo Kim),이대수(Daesu Lee),박언철(Eonchul Park),홍원표(Younpyo Hong),강은구(Eungu Kang),최원종(Wonjong Choi) 한국생산제조학회 2006 한국생산제조시스템학회 학술발표대회 논문집 Vol.2006 No.5
This paper presents a novel way to reduce hysteresis in piezoelectric actuator by connecting the actuator with a capacitor in a series circuit. The change in hysteresis with respect to the capacitor was examined. 0.2Pb(Mg<SUB>1/3</SUB>Nb<SUB>2/3</SUB>)O₃-0.8Pb(Zr?.₄?? Ti?.?₂?)O₃ ceramic material was used as a piezoelectric material for the actuator. Displacement of the actuator was measured in a capacitive gap sensor measuring system. In case of inserting a capacitor in a total circuit, hysteresis became dramatically decreased, and then finally the hysteresis value can be reduced below 0.3%.
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