남매에서 가족력을 가진 galactosialidosis 1례

임선주,남상욱,Im, Sun Ju,Nam, Sang Oak 대한유전성대사질환학회 2006 대한유전성대사질환학회지 Vol.6 No.1

저자들은 출생 후 정상적인 발달을 보이다가 생후 6개월부터 의식과 운동 발달의 퇴행을 보이던 13개월 환아에서 효소 검사를 시행하여 ${\beta}$-galactosidase의 결핍을 확인하고 $GM_1$-gangliosidosis type 1으로 진단하였지만, 후에 추가적으로 시행한 효소 검사에서 ${\alpha}$-neuraminidase의 결핍도 발견되어 galactosialidosis로 진단한 증례를 경험하였기에 문헌 고찰과 함께 보고하고자 한다. Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of ${\beta}$-galactosidase and ${\alpha}$-neuraminidase, secondary to a defect of another lysosomal protective protein. It is a neurodegenerative disorder clinically characterized by psychomotor deterioration, cerebellar ataxia, coarse facies, generalized bony deformity and organomegaly. Three phenotypic subtype are recognized: early infantile, late infantile and juvenile/adult type. We report a 13 months old boy with a late infantile galactosialidosis. He was presented with progressive mental regression and motor disturbance and observed cherry red spot, hearing loss, moderate dysostosis multiplex and vacuolated lymphocytes in peripheral blood. He showed only ${\beta}$-galactosidase deficiency in the lymphocytes and was initially diagnosed as $GM_1$-gangliosidosis type 1. However, further studies revealed the possible defect of ${\alpha}$-neuraminidase suggesting that he was a case of galactosialidosis which was mimicking $GM_1$-gangliosidosis type 1.

식이 단백 유발 직결장염의 임상적 고찰

임선주,김성헌,배상남,박재홍,Im, Sun Ju,Kim, Seong Heon,Bae, Sang Nam,Park, Jae Hong 대한소아소화기영양학회 2005 Pediatric gastroenterology, hepatology & nutrition Vol.8 No.2

목 적: 식이 단백 유발 직결장염(DPIPC)은 영아 초기에 발생하여 양호한 경과를 취하는 질환으로 모유나 우유 내 성분에 의한 알레르기 반응이 주요 원인으로 추정되고 있다. DPIPC의 임상적 특징과 자연 경과 및 식이 조절의 필요성에 대하여 알아보고자 하였다. 방 법: 2002년 5월부터 2004년 6월까지 부산대학교병원 소아과에 혈변을 주소로 검사를 받은 영아 중 DPIPC로 진단된 13명을 대상으로 임상적 특징을 후향적으로 분석하였다. 결 과: 남아가 7명(53.8%), 여아가 6명(46.2%)이었고, 혈변이 발생한 시기는 평균 $96.8{\pm}58.8$일이었다. 혈변의 빈도는 평균 $2.6{\pm}2.5$회/일이었고, 혈변의 발현 후 진단까지의 평균 기간은 $35.5{\pm}55.0$일이었다. 환자의 식이는 모유 수유가 9명(69.2%), 인공 영양이 2명(15.4%), 혼합 영양이 2명(15.4%)이었다. 알레르기의 가족력은 1명에서 있었고, 환자에서 다른 알레르기 질환의 동반은 없었다. 어머니의 식이 습관으로 소량의 우유 복용이나 견과류 또는 어패류의 섭취가 각각 3명에서 있었다. 혈액 검사에서 백혈구수가 $10,555{\pm}3,145/mm^3$, 호산구 비율이 $6.3{\pm}3.0%$, 절대 호산구수가 $659.0{\pm}532.2/mm^3$였다. 13명 중 6명에서 대장 내시경 검사를 시행되었고, 전 예에서 직장과 S상 결장의 점막에 국소적인 발적과 소결절형성이 관찰되었다. 이 중 5명에서 대장 조직 검사를 시행했으며, 만성 염증과 음와 농양이 동반된 경우가 3명이었고, 전 예에서 결절성 림프양 증식이 있었다. 광학 현미경으로 400배의 고배율 시야에서 관찰하였을 때, 대장 점막의 호산구의 수는 4예에서 10개 이하였고 1예에서 10~20개였다. 13명 모두 식이의 변화나 약물을 사용하지 않고 혈변은 $58.7{\pm}67.0$일 후에 자연 소실되었다. 결 론: 건강한 어린 영아에서 실 모양 또는 고춧가루를 흩어놓은 듯한 혈변이 있을 때는 DPIPC를 의심해야 하고, 환자나 환자의 어머니에서 식이 변화가 없이도 혈변은 대부분 1세 이전에 소실되며 혈변 이외에 다른 문제를 야기하지 않는다는 점에서 DPIPC 환자나 어머니에게 일률적으로 식이 제한을 하는 것은 재고할 필요가 있다. Purpose: Dietary protein induced proctocolitis (DPIPC) can be considered as a cause of rectal bleeding or blood streaked stool in otherwise healthy-looking infants in the first several months of life. Failure to appreciate this entity may lead to inappropriate diagnostic or therapeutic intervention. This study aimed to ascertain the clinical features, treatment and prognosis of DPIPC. Methods: We reviewed 13 infants retrospectively, presented with bloody stool in early infancy. They were diagnosed as DPIPC clinically in Pusan National University Hospital from May 2002 to June 2004. Results: Seven males and six females were included. The mean age at onset of bleeding was $96.8{\pm}58.8days$. The mean frequency of hematochezia was $2.6{\pm}2.5$ times a day. Duration from onset of symptom to diagnosis was $35.5{\pm}55.0days$ and duration from onset of symptom to resolution of bleeding was $58.7{\pm}67.0days$. Nine (69.2%) were exclusively breast-fed infants and two (15.4%) were formula-fed infants. All but one infant did not have family history of other allergic diseases. A dietary history of ingestion of cow's milk, nut or shellfish was present in three mothers. Peripheral eosinophil count was normal to slightly elevated (total WBC count $10,555{\pm}3,145/mm^3$, relative eosinophil count $6.3{\pm}3.0%$, absolute eosinophil count $659.0{\pm}532.2/mm^3$). Sigmoidoscopy revealed lymphonodular hyperplasia with surrounding hemorrhagic spots in the rectosigmoid colon in 6 infants. Histopathologic finding of colonic biopsies in 5 infants showed chronic inflammation with lymphoid follicular hyperplasia (5 infants), crypt abscess (3 infants), or mild infiltration of eosinophils (less than 20/high power field) in the lamina propria. Spontaneous resolution of rectal bleeding occurred in all infants without dietary change or medicine. Conclusion: Most infants with DPIPC experience a very benign course and have spontaneous resolution of rectal bleeding without changes in the mother's diet. In the case of strong evidence for DPIPC we suggest deferring further invasive investigation and continuing breast feeding.

정보기술을 활용한 의학교육시스템의 설계와 개발: 부산대학교 의학전문대학원 사례

임선주,이상엽,백선용,우재석,감비성,Im, Sun Ju,Lee, Sang Yeoup,Baek, Sun Yong,Woo, Jae Seok,Kam, Beesung 연세대학교 의과대학 2014 의학교육논단 Vol.16 No.1

The development of information technology (IT) has led to changes in medical education. IT has been used for e-learning and e-teaching, e-assessment, e-logistics, and e-administration. Pusan National University School of Medicine has developed its own educational information system using IT to support students' learning and assessment and to manage curricular activities. Based on our experience, we propose six suggestions for designing new software, specifically regarding simplifying the design for users, communication with the programmer, a rapid cycle from design to implementation, orientation support for users, backup and security support, and obtaining patents. Collaborating with the Department of Medical Informatics within the School of Medicine has advantages, and an alliance among medical schools can simplify the development of software. In any case, curricular innovation should precede the introduction of technology because all technologies should support curricular goals.

성과중심교육에서 학생평가

임선주,Im, Sun Ju 연세대학교 의과대학 2013 의학교육논단 Vol.15 No.1

Assessment plays a vital role in outcome-based education (OBE). This article describes the characteristics of assessment and appropriate assessment instruments for measuring learning outcomes in OBE. Assessment in OBE needs to be formative, continuous, and frequent. Miller's pyramid is useful for selecting the appropriate assessment instruments to reflect a specific outcome; different methods can be applied to evaluate one outcome. Outcomes and competency mean that student must 'do'; therefore, performance tests are emphasized. Qualitative methods as well as quantitative methods are used to evaluate the outcomes of areas such as professionalism or ethics. An absolute criterion-based standard is usually applied to decide whether students pass or fail, but the decision should be based on gathering value judgments and reaching consensus. Active participation of faculty members and students in assessment is crucial.

의전원생ㆍ한의전원생을 위한 협진 PBL 교육 프로그램의 효과

임선주(Sun Ju Im),이상엽(Sang Yeoup Lee),윤영주(Jin Woo Hong),홍진우(Jin Woo Hong),신상우(Sang Woo Shin) 한의병리학회 2016 동의생리병리학회지 Vol.30 No.3

파프리카 유용성분의 추출공정 최적화

임선주 ( Sun Ju Im ),전주영 ( Ju Yeong Jun ),최용희 ( Yong Hee Choi ) 한국산업식품공학회 2007 산업 식품공학 Vol.11 No.1

의과대학 학생의 맨눈해부학 지식에 대한 임상교수의 인식도 조사

임선주(Sun-Ju Im),감비성(Bee-Sung Kam),이상엽(Sang-Yeoup Lee),우재석(Jae-Seok Woo),이종태(Jong-Tae Lee),이상화(Sang-Hwa Lee),임학(Hak Im),조경제(Gyeong-Je Cho),백선용(Sun-Yong Baek) 대한체질인류학회 2014 해부·생물인류학 (Anat Biol Anthropol) Vol.27 No.4

의과대학과 의학전문대학원에 통합교육과정이 도입되면서 임상실습 기간의 확대로 기초의학의 강의 시간이 줄어들었으며, 대학에 따라서 맨눈해부학 교육의 시간과 내용은 상당한 차이를 보이고 있다. 이에 따라 재학생과 졸업생의 해부학 지식의 저하에 대한 우려가 제기되고 있다. 해부학 교수와 학습의 방향 설정의 기초 자료로 활용하기 위하여 임상실습 과정 학생들의 맨눈해부학 지식과 교육과정 내에서 해부학 교수법의 현 상태에 대하여 임상실습을 지도하는 임상 교수의 인식도에 대한 조사가 필요하였다. 부산·경남지역의 5개 의과대학에 근무하는 임상교수를 대상으로 학생들의 맨눈해부학 지식에 대한 인식도를 설문 조사하여 통계분석을 하였다. 임상교수의 입장에서 졸업생의 임상해부학 지식 정도(2.4±0.6)와 고학년 학생의 전반적인 해부학 지식(2.6±0.7)의 저하를 우려하였으며, 선택 집중해부실습(3.8±0.9)과 해부학 교육 시기 확대(3.3±1.0)에 긍정적이었다. 학생들의 전반적 국소해부학 지식의 수준에 대해서는 외과계열과 영상의학, 외과계열과 기타계열 사이에 유의한 차이를 보였으며(p?0.05), 외과 계열이 해부학 지식수준의 저하를 가장 우려하였다. 해부학교육 시기의 확대에 대해서는 영상의학이 내과, 외과 및 기타 계열과 유의한 차이를 보여 가장 긍정적인 응답을 하였다(p?0.001). 학생들이 해부학 지식이 낮은 원인으로는 임상맥락이 적은 해부학교육이 가장 높았으며, 그 다음으로 통합교육과정에 따른 해부학의 정체성 감소였다. There is concerns about the perceived decline in the knowledge of gross anatomy of the medical students and postgraduate trainees. It is partly caused by the introduction of integrated medical curriculum and the shortage of basic medical science program and the extension of clinical clerkship consequently. There is widespread variability in the teaching style and anatomical curricular content at the medical school in Korea. Despite these changes in the anatomical education, there have been few attempts to assess the opinions of senior clinical teachers on the state of anatomical knowledge of students and the place of anatomy teaching within the curriculum. We sought the views of the clinical teachers on the adequacy of the anatomical knowledge of current students and recent graduates of 5 medical schools in Pusan and Gyeongsang-Nam do areas. Most of the clinical teachers were of the opinion that current medical students have an insufficient anatomical knowledge. They indicated the causes of decline were the clinical irrelevant anatomical teaching content and weakness of identity of anatomy by the introduction of the integrated medical education program. There was widespread support for both the concepts of spreading anatomy teaching throughout the medical course, and an optional, clinically related final year student project in the anatomy.

Corrigendum: Correction of Acknowledgments

박은주,이상엽,임선주,윤소정,감비성,백선용,김윤진,우재석,이정규,정동욱,조영혜,이유현,탁영진,Park, Eun Ju,Lee, Sang Yeoup,Im, Sun Ju,Yune, So Jung,Kam, Beesung,Baek, Sun Yong,Kim, Yun-Jin,Woo, Jae Seok,Lee, Jeong-Gyu,Jeong, Dong-Wook,Cho, Yo 연세대학교 의과대학 2017 의학교육논단 Vol.19 No.2

3학년 학생의 역량수준과 관련 요소

감비성,이상엽,임선주,Kam, Beesung,Lee, Sang Yeoup,Im, Sun Ju 연세대학교 의과대학 2013 의학교육논단 Vol.15 No.2

The purpose of this study was to assess third-year medical students' competency for development or revision of the undergraduate curriculum and assessments. One hundred and twenty-seven third-year medical students at the Pusan National University were included in the study. After third- and fourth-year students took a common written examination, clinical performance examination (CPX), and objective structured clinical examination (OSCE) with common items as a summative assessment, the third-year students' competency was compared with 132 forth-year students' results. The correlation of the written examination and CPX/OSCE was analysed, and the summative results were compared with the grade point average (GPA) through the second year, CPX/ OSCE in the second year, and GPA in the clerkship. On the written examination, the third-year students' mean score was lower than the fourth-year students' by over 11 points, whereas the gap in the CPX/OSCE was 4 points and there was no difference in the OSCE. There was a moderate correlation between the written examination and the CPX/OSCE scores (R=0.371, p<0.01). The written examination was highly correlated with GPA through the second year, which mainly evaluated medical knowledge (R=0.771, p<0.01). A relatively high correlation was observed between CPX/OSCE scores and GPA in the clerkship (R=0.641, p<0.01). The summative CPX/ OSCE scores showed a moderate correlation with formative CPX/OSCE scores in the second year (R=0.464, p< 0.01). The third-year students' score was quite low on the written examination and slightly low on the CPX/OSCE compared to that of the fourth-year students. The written examination and CPX/OSCE cannot replace each other and should be combined with other methods of evaluation to measure competency. Early OSCE and workplacebased assessment should be useful in the early assessment of clinical skills competency.

가정의학 임상실습과정에 대한 구조화된 평가

박은주,이상엽,임선주,윤소정,감비성,백선용,김윤진,우재석,이정규,정동욱,조영혜,이유현,탁영진,Park, Eun Ju,Lee, Sang Yeoup,Im, Sun Ju,Yune, So Jung,Kam, Beesung,Baek, Sun Yong,Kim, Yun-Jin,Woo, Jae Seok,Lee, Jeong-Gyu,Jeong, Dong-Wook,Cho, Yo 연세대학교 의과대학 2017 의학교육논단 Vol.19 No.1

This study was conducted to analyze the strengths and weaknesses of a 3-week family medicine clerkship program based on the results of an online survey taken by the students (N=127) and a structured interview with a focus group (n=10), aimed to improve the quality of the clerkship program. The online survey contained questions pertaining to goals, schedule, contents, arrangement, atmosphere, environment, evaluation, and satisfaction regarding the clerkship. The focus group interview addressed the schedule and achievements of the program. Scores were reported on a 5-point Likert scale. Most students were highly satisfied with the overall quality of the clerkship. The structured interview results showed that 97.6% of the clerkship program was executed according to the schedule. The focus group reported a perfect score of 5 points on several measures including: accomplishment of the educational goals of the family medicine clerkship, providing many chances to obtain medical histories and perform physical examinations on real patients, experience with various symptoms and diseases, positive attitudes of faculty members when teaching, notification of the guidelines for evaluation beforehand, well-constructed and effective clerkship schedule, and reflection of student feedback. However, the focus group gave low scores on: support for health accidents of students, access to patient information, enough opportunities to practice clinical skills, appropriate rest facilities for students, and fairness of clerkship evaluation process. In conclusion, the structured evaluation performed after the 3-week clerkship program motivated students and helped them ensure an efficient clerkship. This structured evaluation also suggested basic data to make the professor who is subject of the assessment. This study shows that structured assessment is an effective method which can be used to improve the quality of clerkships.