Lesch-Nyhan 증후군 1례

김준성,이재승,노하영,김병주,우영종,박지민,김명관,김구환,유한욱,Kim, Joon-Sung,Lee, Jae-Seung,Noh, Ha-Young,Kim, Byung-Ju,Woo, Young-Jong,Park, Jee-Min,Kim, Myung-Gwan,Kim, Gu-Hwan,Yoo, Han-Wook 대한소아청소년과학회 2003 Clinical and Experimental Pediatrics (CEP) Vol.46 No.5

저자들은 빈번한 구토와 성장 장애, 발달 지연 등을 주소로 내원한 1년 7개월된 남아에서 HPRT에 대한 생화학적 효소 분석을 통해 진단하고, HPRT 유전자에 대한 분자유전학적 분석을 시행하여 병인이 되는 돌연변이가 확인된 Lesch-Nyhan 증후군 1례를 경험하였기에 이를 문헌고찰과 함께 보고하는 바이다. Lesch-Nyhan syndrome is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive, self-injurious behavior. This disorder results from a complete deficiency of the purine salvage enzyme, hypoxanthine-guanine phosphoribosyl transferase(HPRT). We report here on a case of Lesch-Nyhan syndrome in a 1-year, 7-month-old male who presented with frequent vomiting, failure to thrive, and developmental delay. The diagnostic work-up revealed hyperuricemia, hyperuricosuria, and medullary nephrolithiasis. The HPRT activity in the erythrocytes was undetectable with a biochemical assay. We also identified de novo mutation which was a deletion of the 649th base, adenosine, in HPRT gene(649delA) by analysis of cDNA using RT-PCR technique coupled with direct sequencing.

조경수관리

김준성,Kim, Jun-Seong 한국조경수협회 2009 造景樹 Vol.112 No.-

청소년에서 컴퓨터 작업의 종류와 작업 시간이 눈깜박임 횟수와 안구건조에 미치는 영향

김준성,조경준,송종석.Jun Sung Kim. M.D.. Kyung Jun Cho. M.D.. Jong-Suk Song. M.D. 대한안과학회 2007 대한안과학회지 Vol.48 No.11

Purpose: To evaluate the change in blink rate in adolescents according to the type and duration of computer tasks and to analyze the risk of ocular dryness using an ocular protection index. Methods: Fifteen male high school students played computer games and viewed Internet lectures for 20 minutes each. Blink rate was measured by USB camera, and ocular protection index (OPI, the ratio of BUT to inter-blink interval) was calculated for each subject during the two tasks. In addition, 7 of the 15 subjects played computer games again for 40 minutes on another day, and the change in blink rate according to the duration of computer games was observed. Results: The average blink rate was 5.44±3.29 per minute (median 5, range 2-12.75) while playing computer games and 20.63±11.21 per minute (median 18.25, range 4.93-42.2) while viewing Internet lectures, and this difference was statistically significant (p=0.001). The percentage of subjects with OPI values less than 1 was 53% for computer games and 13% for Internet lectures (p=0.025). While playing computer games for 40 minutes, the mean of total blinks during ten-minute intervals decreased over time: 59.43 times (median 57) during the first 10 minutes, 33.86 times (median 41) during the last 10 minutes. Conclusions: The blink rate in adolescents was significantly lower and the risk of ocular dryness was higher while playing computer games compared with that of viewing internet lectures. As playing time increased, the blink rate decreased and risk of ocular dryness increased.

Polyethylene Terephthalate (PET) FOAM의 전과정 환경성 평가(LCA)적 고찰

김준성,Kim, Jeun-Seong 한국복합신소재구조학회 2013 복합신소재학회논문집 Vol.4 No.1

상부 위장관 출혈

김준성,Kim, Joon Sung 대한소아소화기영양학회 2008 Pediatric gastroenterology, hepatology & nutrition Vol.11 No.suppl2

소아에서의 급성 상부 위장관 출혈은 흔하지는 않지만 잠재적으로 심각한 위험을 초래할 수 있는 문제이다. 상부 위장관 출혈의 원인은 환아의 연령에 따라 다양하기 때문에 소아 환자를 평가할 때는 각 연령대 별로 흔한 특정 원인들을 미리 염두에 두는 것이 필요하다. 환자의 상태가 위중할 때는 신속한 병력 청취와 활력 징후 측정, 정맥 확보 및 특정 검사 등이 빠른 시간내에 이루어지는 것이 중요하다. 응급 상황에서는 기도 확보, 호흡, 순환 등 초기 심폐소생술을 먼저 시행한 후에 자세한 병력 청취, 신체 검사와 함께 상부 위장관 출혈을 일으킨 기저 질환을 확인하기 위하여 더 자세한 특수한 진단적 검사 등이 필요하고, 이를 근거로 각각의 원인에 따른 적절한 치료가 시행되어야 한다. Upper gastrointestinal bleeding (UGIB) is defined as bleeding in the gastrointestinal tract where the source of bleeding is proximal to the ligament of Treitz. UGIB is uncommon, but a potentially serious lifethreatening problem in children. The clinical manifestation of UGIB in children ranges from asymptomatic microcytic anemia to hypovolemic shock. As the etiology of UGIB varies with age, it is important to be aware of the specific etiologies at different ages when assessing children with UGIB. It is imperative that each child with UGIB be evaluated carefully, including an assessment of the patient's cardiorespiratory status along with other diagnostic studies for determining the underlying cause of bleeding.

$Mg_2$Ni계 수소저장합금전극의 퇴화거동에 미치는 불화 처리 영향

김준성,최재웅,이창래,강성군,Kim, Jun-Seong,Choe, Jae-Ung,Lee, Chang-Rae,Gang, Seong-Gun 한국재료학회 2001 한국재료학회지 Vol.11 No.4

기계적 합금화 방법을 이용하여 제작한 Ni-MH 전지용 $Mg_2$Ni전극의 표면 불화처리에 대한 전기화학적 충.방전 특성이 조사되었다. 20시간 밀링을 통해 제조된 $Mg_2$Ni합금은 나노결정을 가졌으며 그 $Mg_2$Ni전극의 KOH전해질내에서 충.방전 실험 결과, 초기 방전 용량이 280mAh/g이상으로 증가하였으나 10cyc1e이내에 급격히 퇴화되었다. 전극표면에서 지속적이고 안정한 불화층 형성을 목적으로 KOH용액에 잉여의 불소이온이 첨가된 $Mg_2$Ni전극의 내구성은 크게 향상되었으며 특히 2N KF를 첨가했을 경우 전극의 내구성이 가장 크게 향상되었다. 고율 방전실험의 경우도 그 성능이 90-100mAh/g으로 유지되었다 이러한 내구성 향상의 이유는 표면에 얕고 다공성인 $Mg_2$Ni층의 형성으로 인해 퇴화의 주요인인 Mg(OH)$_2$의 생성이 억제되었기 때문이었다. Effects of the surface fluorination on the electrochemical charge-discharge properties of $Mg_2$Ni electrode in Ni-MH batteries fabricated by mechanical alloying were investigated. After 20h ball milling, Mg and Ni powder formed nanocrystalline $Mg_2$Ni. Discharge capacity of this alloy increased greatly at first one cycle, but due to the formation of Mg(OH)$_2$ passive layer, it showed a rapid degradation in alkaline solution within 10cyc1es. In case of 6N KOH +xN KF electrolyte (x = 0.5, 1, 2), a continuous and stable fluorinated layer formed by adding excess F$^{-}$ ion, increased durability of $Mg_2$Ni electrode greatly and high rate discharge capability(90-100mAh/g). 2N KF addition led to the highest durability of all tested here. The reason of the improvement is due to thin MgF$_2$, which can prevent the $Mg_2$Ni electrode from forming Mg(OH)$_2$layer that is the main cause of degradation. Effects of the surface fluorination on the electrochemical charge-discharge properties of $Mg_2$Ni electrode in Ni-MH batteries fabricated by mechanical alloying were investigated. After 20h ball milling, Mg and Ni powder formed nanocrystalline $Mg_2$Ni. Discharge capacity of this alloy increased greatly at first one cycle, but due to the formation of Mg(OH)$_2$ passive layer, it showed a rapid degradation in alkaline solution within 10cyc1es. In case of 6N KOH +xN KF electrolyte (x = 0.5, 1, 2), a continuous and stable fluorinated layer formed by adding excess F$^{[-10]}$ ion, increased durability of $Mg_2$Ni electrode greatly and high rate discharge capability(90-100mAh/g). 2N KF addition led to the highest durability of all tested here. The reason of the improvement is due to thin MgF$_2$, which can prevent the $Mg_2$Ni electrode from forming Mg(OH)$_2$layer that is the main cause of degradation.

RAMS+를 이용한 하천에서 오염물질의 2차원 체류시간 분포 모델링

김준성,서일원,신재현,정성현,윤세훈,Kim, Jun Song,Seo, Il Won,Shin, Jaehyun,Jung, Sung Hyun,Yun, Se Hun 한국수자원학회 2021 한국수자원학회논문집 Vol.54 No.7

With the recent industrial development, accidental pollution in riverine environments has frequently occurred. It is thus necessary to simulate pollutant transport and dispersion using water quality models for predicting pollutant residence times. In this study, we conducted a field experiment in a meandering reach of the Sum River, South Korea, to validate the field applicability and prediction accuracy of RAMS+ (River Analysis and Modeling System+), which is a two-dimensional (2D) stream flow/water quality analysis program. As a result of the simulation, the flow analysis model HDM-2Di and the water quality analysis model CTM-2D-TX accurately simulated the 2D flow characteristics, and transport and mixing behaviors of the pollutant tracer, respectively. In particular, CTM-2D-TX adequately reproduced the elongation of the pollutant cloud, caused by the storage effect associated with local low-velocity zones. Furthermore, the transport model effectively simulated the secondary flow-driven lateral mixing at the meander bend via 2D dispersion coefficients. We calculated the residence time for the critical concentration, and it was elucidated that the calculated residence times are spatially heterogeneous, even in the channel-width direction. The findings of this study suggest that the 2D water quality model could be the accidental pollution analysis tool more efficient and accurate than one-dimensional models, which cannot produce the 2D information such as the 2D residence time distribution.

하천에서 유해화학물질 확산 예측을 위한 2차원 수질모형 CTM-2D-TX의 개발

김준성,정성현,윤세훈,서일원,Kim, Jun-Seong,Jeong, Seong-Hyeon,Yun, Se-Hun,Seo, Il-Won 한국수자원학회 2021 물과 미래(한국수자원학회지) Vol.54 No.3

부동산협회 운영 시스템을 통한 중개 일반화

김준성,Kim, Jun-Seong 한국주택협회 2006 주택과 사람들 Vol.189 No.-

캐나다의 부동산 거래는 대부분 다중 중개 매물 서비스인 MLS(Multiple Listing Service)를 통해 이뤄진다. 어떤 방식과 절차를 거쳐 부동산 거래가 이뤄지는지, 그 과정에서 주의해야 할 점들은 무엇인지 알아보자.

궤양성 대장염에 동반된 간정맥 혈전증 1예

김준성,김경모,Kim, Joon-Sung,Kim, Kyung-Mo 대한소아소화기영양학회 2009 Pediatric gastroenterology, hepatology & nutrition Vol.12 No.2

저자들은 궤양성 대장염으로 진단되어 치료 중이던 15세 소아에서 발생한 간정맥 혈전증(Budd-Chiari 증후군) 1예를 경험하였기에 문헌고찰과 함께 보고한다. 간정맥 혈전증은 소아 궤양성 대장염의 매우 드문 혈관계 합병증으로 이환율과 사망률의 주요한 원인이 될 수 있으므로 진단과 치료에 보다 세심한 주의가 필요하다. Patients with inflammatory bowel disease are known to have hypercoagulability and an increased risk for venous thromboembolism. The deep veins of the lower extremities and the pulmonary veins are the most common sites of thrombosis in ulcerative colitis. However, hepatic vein thrombosis (Budd-Chiari syndrome) is a very rare extra-intestinal complication of ulcerative colitis in children. We describe a case of hepatic vein thrombosis in a 15-year-old girl with ulcerative colitis who presented with abdominal pain and hematochezia. Doppler ultrasonography and an abdominal CT scan revealed the characteristic filling defects caused by large thrombi in both hepatic veins. These lesions were successfully treated with conventional management for ulcerative colitis and anticoagulation therapy.