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      • 무증상의 경쇄 acyl-CoA 탈수소효소 결핍증 1례

        이화평,김진섭,허림,조성윤,진동규,Lee, Hwapyung,Kim, Jinsup,Huh, Rimm,Cho, Sung Yoon,Jin, Dong-Kyu 대한유전성대사질환학회 2015 대한유전성대사질환학회지 Vol.15 No.2

        경쇄 acyl-CoA 탈수소효소 결핍증(short chain acyl-CoA dehydrongenase deficiency, SCAD)은 미토콘드리아에 존재하는 효소 중 하나인 경쇄 acyl-CoA 탈수소효소(short chain acyl-CoA dehydrongenase, SCAD)의 결핍으로 인하여 지방산 산화의 장애를 초래하는 대사질환이다. 이 질환의 임상증상은 성장 부전, 대사성 산증, 저혈당, 발달 지연, 발작 및 신경 근육 증상, 근력 저하 등 매우 다양하다. 저자들은 무증상 신생아에서 신생아 선별검사를 통해 혈청 C4-butyrylcarnitine이 증가하고 소변의 ethylmalonic acid가 증가된 소견이 관찰되어 경쇄 acyl-CoA 탈수소효소 결핍증을 진단하였다. 생후 8개월까지 특이 증상 없이 추적관찰 중으로 정상적인 성장과 발달을 보였기에 이에 증례를 보고하는 바이다. Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare mitochondrial fatty-acid oxidation disorder that is inherited as an autosomal recessive pattern. SCAD deficiency is caused by mutations in the ACADS gene (Acyl-CoA Dehydrogenase, Short-chain, OMIM #606885), which encodes SCAD, the mitochondrial enzyme that catalyzes the first reaction in the beta-oxidation of fatty acids four to six carbons in length. Here, we describe one Korean pediatric case of SCAD deficiency, which was diagnosed during newborn screening through tandem mass spectrometry. An increased concentration of butyrylcarnitine was detected on the newborn screening test, and the urine organic acid analysis showed increased urinary excretion of ethylmalonic acid. The patient has been asymptomatic and has shown normal growth and development by 8 months of age without any intervention during follow-up period.

      • KCI등재

        직업성 만성폐쇄성폐질환의 업무관련성 심의 사례들과 산업의학적 평가에 대한 고찰

        이화평,고동희,이의철 大韓産業醫學會 2009 대한직업환경의학회지 Vol.21 No.1

        목적 많은 연구들을 통하여 만성폐쇄성폐질환의 직업성 원인에 대한 역학적 근거들이 제시되고 있지만 산재로 인정받는 경우는 아직 적은 편이다 본 연구에서는 산업안전보건연구원에서 근로복지공단의 의뢰를 받아 시행한 업무관련성 여부에 대한 심의 사례들을 조사하였으며 만성폐쇄성폐질환의 직업성 원인에 대한 근거들을 함께 고찰하여 직업성 만성폐쇄성폐질환에 대한 산업의학적 평가의 시행에 도움을 주고자 하였다 방법 1998년부터 2007년까지 10년간 산업안전보건연구원에서 이루어진 업무상 질병 여부에 대한 심의 기록들을 담고 있는 전산자료에서 만성폐쇄성폐질환을 진단명으로 하는 13건의 사례들을 수집하였다 이들 13건의 기록들로부터 질병명 병력 직업력 흡연력 해당 유해인자 사업장의 작업환경측정 기록 업무관련성 평가에 대한 심의 결과를 파악하였다 결과 총 13건의 사례들 중에서 업무관련성이 높다고 평가된 4건의 사례들은 다음과 같다 1) 도로상 미세 분진과 일반쓰레기 분진에 노출된 비흡연자인 환경미화원 2) 카드뮴 흄에 의해 폐손상을 입은 용접공 3) 방적공장의 면 분진에 의해 발생한 천식이 장기노출에 의해서 만성화되면서 비가역적으로 폐기능이 저하된 공조기 공기필터 관리작업자 4) 개인보호장구와 국소배기장치 없이 작업한 흡연력이 있는 주물공장 사상공 다음의 9건의 사례는 업무관련성이 낮은 것으로 평가되었다 1) 직업성 요인보다는 흡연에 의한 만성폐쇄성폐질환으로 판단된 경우 4례 2) 기존 질환(심한 결핵)의 악화에 의한 질병 발생의 가능성이 큰 경우 1례 3) 잘못 진단된 경우 1례 4) 작업 환경상 유해인자에 대한 노출의 정도가 너무 낮은 경우 2례 5) 유해인자에 노출되기 이전에 이미 발병한 경우 1례 흡연력이 있고 진폐가 없는 사상공의 경우 2006년에는 업무관련성이 낮은 것으로 평가되었으나 2007년에는 높은 것으로 평가되었다 결론 만성폐쇄성폐질환의 산업의학적 평가에 필요한 요소들은 다음과 같다 1) 폐기능 검사와 방사선학적 검사를 통한 만성폐쇄성폐질환의 정확한 진단과 다른 질환들의 배제 2) 해당 유해인자와 질병 발병 사이의 인과관계에 대한 충분한 근거 확보 3) 노출의 정도에 대한 평 가 4) 흡연으로 인한 발병가능성의 평가 산업의는 이러한 요소들을 충분히 고려하여 직업성 여부를 평가하여야한다 또한 환자가 흡연자라고 할지라도 직업성 유해인자에 의한 폐기능의 감소가 평균수명 혹은 건강수명의 실질적인 단축을 가져왔는가라는 문제를 충분히 고려하여 만성폐쇄성폐질환의 직업성 여부를 평가하여야 할 것이다 Objectives To analyse the characteristics of occupational COPD (Chronic obstructive pulmonary disease) cases that were evaluated by the Occupational Safety and Health Research Institute (OSHRI) of the Korea Occupational Safety & Health Agency (KOSHA) Methods Using the OSHRI database from KOSHA we collected 13 cases of occupational COPD that had been evaluated from 1998 to 2007 Results Four cases had been evaluated as occupational COPD 1) a nonsmoking road sweeper exposed to automobile exhaust gases and trash dust 2) an oxygen welding worker exposed to cadmium fumes 3) a cotton mill air conditioner cleaning worker exposed to cotton dust and 4) a foundry grinding worker exposed to dust gases vapors and fumes Nine cases had been evaluated as non-occupational COPD 1) 4 cases in which smoking was determined to be the main cause rather than occupational expo sure, 2) 1 case that was evaluated as another respiratory disease (severe tuberculosis sequelae) 3) 1 case that had been misdiagnosed as COPD 4) 2 cases in which the exposure levels in the workplace environments were too low and 5) 1 case that had developed before the employment Among these 13 cases a shipyard grinding worker had been evaluated in 2006 as having had a low occupational hazard but a similar case (a foundry grinding worker) was evaluated as having had a high hazard in 2007 Conclusions Proper evaluation of occupational COPD demands an accurate diagnosis of COPD itself and also the exclusion of other respiratory diseases that have similar symptoms an investigation of the relevant occupatioonal hazards and the amount of the exposure and a consideration of smoking history The evaluation should also take into account any substantial loss of life due to occupational hazards as well as any disease-free periods

      • KCI등재

        Outcome of Alagille Syndrome Patients Who Had Previously Received Kasai Operation during Infancy: A Single Center Study

        이화평,Ben Kang,최소윤,이상훈,이석구,최연호 대한소아소화기영양학회 2015 Pediatric gastroenterology, hepatology & nutrition Vol.18 No.3

        Purpose: Infants with Alagille syndrome (AGS) are occasionally misdiagnosed as biliary atresia and subsequently undergo Kasai operation. The purpose of this study was to investigate the outcome of patients with AGS who had previously received Kasai operation during infancy.Methods: This retrospective study was conducted at the Department of Pediatrics, Samsung Medical Center. We compared the prognosis and mortality between those who had undergone Kasai operation during infancy (Kasai group) and those who had not (non-Kasai group).Results: Among the 15 children with AGS, five had received Kasai operation, while 10 had not. All subjects in the Kasai group revealed neonatal cholestasis, while 70% of the non-Kasai group showed neonatal cholestasis. Liver transplantation was performed in 100% (5/5) among the Kasai group, and 20.0% (2/10) among the non-Kasai group (p=0.007). Mortality was observed in 60.0% (3/5) among the Kasai group, and 10.0% (1/10) among the non-Kasai group (p=0.077). Conclusion: Although overall mortality rate did not significantly differ between the two groups, the proportion of pa-tients receiving liver transplantation was significantly higher in the non-Kasai group. The relatively worse outcome in AGS patients who had received Kasai operation may be due to the unfavorable influences of Kasai operation on the clinical course of AGS, or maybe due to neonatal cholestasis, irrespective of the Kasai operation.

      • KCI등재

        Imaging Findings of Brain Death on 3-Tesla MRI

        손철호,이화평,박준범,장혁원,김일만,김은희,박의준,김형태,구정훈 대한영상의학회 2012 Korean Journal of Radiology Vol.13 No.5

        Objective: To demonstrate the usefulness of 3-tesla (3T) magnetic resonance imaging (MRI) including T2-weighted imaging (T2WI), diffusion weighted imaging (DWI), time-of-flight (TOF) magnetic resonance angiography (MRA), T2*-weighted gradient recalled echo (GRE), and susceptibility weighted imaging (SWI) in diagnosing brain death. Materials and Methods: Magnetic resonance imaging findings for 10 patients with clinically verified brain death (group I) and seven patients with comatose or stuporous mentality who did not meet the clinical criteria of brain death (group II) were retrospectively reviewed. Results: Tonsilar herniation and loss of intraarterial flow signal voids (LIFSV) on T2WI were highly sensitive and specific findings for the diagnosis of brain death (p < 0.001 and < 0.001, respectively). DWI, TOF-MRA, and GRE findings were statistically different between the two groups (p = 0.015, 0.029, and 0.003, respectively). However, cortical high signal intensities in T2WI and SWI findings were not statistically different between the two group (p = 0.412 and 1.0, respectively). Conclusion: T2-weighted imaging, DWI, and MRA using 3T MRI may be useful for diagnosing brain death. However, SWI findings are not specific due to high false positive findings.

      • KCI등재

        경기도 지역 119 구급대원들의 자동제세동기 사용에 대한 고찰

        이재성,이화평,손유동,안희철,고봉연,왕순주 대한응급의학회 2008 大韓應急醫學會誌 Vol.19 No.1

        Purpose: The purpose of this study was to investigate the use of an AED by 119 rescuers in prehospital cardiac arrest. Methods: 132 patients who experienced prehospital cardiac arrest and was defibrillated by 119 rescuers using AED from January 2003 to December 2004 were included in this study. They were reviewed retrospectively based on 119 rescue service records and ECG. We analyzed patients’ general characteristics, types of ECG rhythm, time intervals from EMS activation to arrival and from EMS activation to the first defibrillation, numbers of defibrillation, and return of spontaneous circulation (ROSC). Results: The mean age was 57.33±17.84 years with 92 males and 40 females. 68 patients showed shockable rhythms (coarse ventricular fibrillation 41, fine ventricular fibrillation 24, pulseless ventricular tachycardia 3) and 39 patients showed unshockable rhythms (pulseless electrical activity 19 , asystole 18, normal sinus rhythm 2) as an initial rhythm at EMS arrival. Unshockable rhythms were changed to shockable rhythms after cardiopulmonary resuscitation. 25 patients had no ECG rhythms on 119 rescue service records. In the patients with shockable rhythms initially (68 patients), 18 patients experienced ROSC, whereas only 1patients experienced ROSC in the patients with unshockable rhythms initially (39 patients). The patients with shockable rhythms initially had higher ROSC rates than the patients with unshockable rhythms initially (26.1% vs 2.6%, p=0.001) and received less defibrillation than the patients with unshockable rhythms initially (1.37±0.60 vs 2.49± 1.87, p=0.016). There were no significant differences in the time intervals from EMS activation to arrival (5.74±2.13 minutes vs 7.12±4.33 minutes, p=0.529) and from EMS activation to the first defibrillation (14.20±7.97 minutes vs 13.75±7.30 minutes, p=0.542) between ROSC group & non-ROSC group. There was no significant difference in ROSC between male and female (13% vs 17.5%, p=0.164). Conclusion: The patients with shockable rhythms initially had higher ROSC rates than the patients with unshockable rhythms initially (26.1% vs 2.6%, p=0.001) and received less defibrillation than the patients with unshockable rhythms initially (1.37±0.60 vs 2.49±1.87, p=0.016).

      • KCI등재

        Pediatric Mycoplasma pneumoniae Infection Presenting with Acute Cholestatic Hepatitis and Other Extrapulmonary Manifestations in the Absence of Pneumonia

        송원재,강빈,이화평,조중범,이해정,최연호 대한소아소화기영양학회 2017 Pediatric gastroenterology, hepatology & nutrition Vol.20 No.2

        Mycoplasma pneumoniae infections mainly involve respiratory tract; however, also can manifestate other symptoms by site involved. Extrapulmonary manifestations of M. pneumoniae infection are rarely known to occur without pneumonia. Herein we report a case of a 9-year-old boy who presented with acute cholestatic hepatitis in the absence of pneumonia. Rhabdomyolysis, skin rash, and initial laboratory results suspicious of disseminated intravascular coagulopathy were also observed in this patient. M. pneumoniae infection was identified by a 4-fold increase in immunoglobulin G antibodies to M. pneumoniae between acute and convalescent sera by enzyme-linked immunosorbent assay. This is the first pediatric case in Korea of M. pneumoniae infection presenting with acute cholestatic hepatitis in the absence of pneumonia.

      • KCI등재

        한국인 뇌졸중 예측모형에 의한 뇌졸중 10년 발생 위험도와 경동맥 내중막 두께의 관련성

        정보우,손효경,양진훈,이화평,이채용 대한신경과학회 2012 대한신경과학회지 Vol.30 No.4

        Background: Both carotid intima-media thickness (IMT) and global risk score of cardiovascular disease were independent risk factors of stroke and heart disease. We assessed the correlation between the 10-year risk of Korean Stroke Risk Prediction model (KSRP) and carotid intima-media thickness. Additionally, from a perspective of carotid IMT measurement following KSRP risk stratification, we analyzed the difference of carotid IMT and plaque according to the KSRP risk strata. Methods: Subjects were 282 persons who visited one hospital for the screening of stroke. The 10-year risk was calculated automatically based on the equation of KSRP model. The maximal carotid IMT and the plaque were adopted as the study variables. The sensitivity and the positive predictive value of the KSRP risk categories were calculated. Results: The correlation coefficient between the KSRP risk and the maximal carotid IMT was 0.29 (p<0.01). The mean (±standard deviation) of KSRP risk of the group with carotid plaque was statistically significantly higher, 5.3 (±4.1), than that of the group without plaque, 3.3 (±3.1) (p≤0.01). The sensitivity of the risk stratum with more than 6% of KSRP risk for the plaque was 28.2%. The positive predictive value of the above cut-point was 48.8%. Conclusions: The 6% of KSRP risk may be considered as the beginning point of intermediate risk stratum to recommend the carotid ultrasonography. However, generalization needs further studies for various populations.

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