ABCA1 유전자의 새로운 돌연변이로 인한 Tangier병

박형기 ( Hyung Ki Park ),서승오 ( Seong O Suh ),안석진 ( Seok Jin Ahn ),정준오 ( Jun Oh Jung ),박상준 ( Sang Jun Park ),김희진 ( Hee Jin Kim ),박형두 ( Hyung Doo Park ) 대한내과학회 2010 대한내과학회지 Vol.78 No.2

Tangier disease (TD) is a rare autosomal recessive disorder of lipoprotein metabolism characterized by extremely low levels of high-density lipoprotein cholesterol (HDL-C) and apolipoprotein (apo) A-I resulting in accumulation of cholesterol esters in various organs. TD is caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene. Here, we present the first case report of a Korean patient with TD. A 45-year-old man had corneal opacity, intestinal mucosa abnormalities, and extremely low levels of HDL-C (1.8mg/dL) and apo A-I (<10mg/dL), consistent with a diagnosis of TD. Histologically, foamy macrophages were recognized in the submucosa of the duodenum and colon. We performed PCR-sequencing for all ABCA1 coding exons to confirm genetic abnormalities. Two novel mutations in the ABCA1 gene were identified: i.e., c.3148G>T (p.G1050X) nonsense mutation and c.3202C>T (p.R1068C) missense mutation. The c.3202C>T mutation was not found in 192 normal control alleles. (Korean J Med 78:241-246, 2010)

장중첩증이 (腸重疊症) 동반된 대장지방종 (大腸指肪腫)

박인서 ( In Suh Park ),박찬일 ( Chan Il Park ),이경식 ( Kyung Sik Lee ),김기황 ( Ki Whang Kim ),최흥재 ( Heung Jae Choi ),양주영 ( Joo Young Yang ),박창윤 ( Chang Yoon Park ),윤용광 ( Yong Dwang Yoon ) 대한소화기학회 1982 대한소화기학회지 Vol.14 No.1

Excluding adenomataus polyps, lipomas represent the most common benign tumor of the colon. But lipomas of gastrointestinal tract are rarely encountered, and when seen they are usually an incidental finding at autopsy or operation. When small, these tumors are frequently asymptomatic. Constipation and colicky abdominal pain in wax and wane pattern are frequent symptoms in the larger tumor and intussusception is the main complication of the lipomas. A few hundreds of gastrointestinal lipomas were reported in the world, but only 6 cases of it were found in the literature in Korea. A case of lipomas in colon associated with intussusception in a 36-year-old woman and a brief review of the literature were presented.

중증근무력증의 임상적 고찰

박영춘 ( Young Choon Park ),서정규 ( Chung Gyu Suh ),박재후 ( Jae Who Park ),박승해 ( Seung Hae Park ),박기환 ( Ki Hwan Park ),권기영 ( Ki Yung Kwon ) 대한내과학회 1982 대한내과학회지 Vol.25 No.8

식이 섬유가 대사 증후군과 아디포넥틴에 미치는 영향

이기종 ( Ki Jong Lee ),서지현 ( Ji Hyun Suh ),안영 ( Young Ahn ),하승혜 ( Sung Hae Ha ),박주상 ( Ju Sang Park ),장은정 ( Eun Jeong Jang ),박상종 ( Sang Jong Park ),김상중 ( Sang Jung Kim ),박상운 ( Sang Woon Park ),백현욱 ( Hyun 한국정맥경장영양학회 2011 한국정맥경장영양학회지 Vol.4 No.1

Purpose: In Korea, the prevalence of metabolic syndrome has increased. The relationship between metabolic syndrome, adiponectin, and dietary components is widely known. However, the relation between cytokine and dietary components is not yet well studied in Korea. Methods: Five hundred and ninety-six Korean adults between 30 and 59 years of age were recruited by advertisement to the Bundang Jesaeng General Hospital (BJGH), and those not taking regular medications and without diagnoses of fulminant disease were included. Data was collected on anthropometric measurements, diagnostic parameters for metabolic syndrome (MetS), and 3-day dietary intakes from individuals in the study. Results: Serum adiponectin level was positively correlated with serum HDL-cholesterol level and was negatively correlated with BMI, waist circumference, and systolic and diastolic blood pressure. Intake of dietary fiber was high in the high-adiponectin group. Conclusion: High-fiber diet and adiponectin can be helpful for improving metabolic syndrome. (JKSPEN 2011; 4(1):16-20)

류마티스 관절염 환자에서 발생한 Bronchus-Associated Lymphoid Tissue (BALT) 림프종

기성호 ( Sung Ho Ki ),권성렬 ( Seong Ryul Kwon ),강상용 ( Sang Yong Kang ),박인서 ( In Suh Park ),임미진 ( Mie Jin Lim ),박현주 ( Hyun Joo Park ),박원 ( Won Park ) 대한내과학회 2007 대한내과학회지 Vol.73 No.2

Bronchus-associated lymphoid tissue (BALT) lymphoma is a rare disorder and it is a characteristic subgroup of low-grade B-cell extranodal non-Hodgkin`s lymphoma that is classified as marginal zone lymphoma. We report here on a patient with rheumatoid arthritis who developed BALT lymphoma. She had no pulmonary symptoms and the pulmonary nodules were incidentally detected by routine chest radiography. Chest CT showed a 2.8cm sized ill-defined focal consolidation of homogenous attenuation in the posterobasal segment of the right lower lobe. The histological diagnosis from the wedge resection specimen revealed low grade B cell lymphoma of BALT. To the best of our knowledge, this case is the first to report BALT lymphoma that developed in a Korean patient with rheumatoid arthritis. BALT lymphoma should be included in the differential diagnosis of the pulmonary nodules in patients with rheumatoid arthritis.(Korean J Med 73:228-232, 2007)

Itraconazole 에 의한 급성간염 1 예

전재윤(Chae Yoon Chang),박기호(Ki Ho Park),한광협(Kwang Hyub Han),박상진(Sang Jin Park),천상배(Sang Bae Chun),박인서(In Suh Park),박영년(Young Yeun Park),박찬일(Chan Il Park),한승경(Seung Kyung Han) 대한내과학회 1994 대한내과학회지 Vol.46 No.3

A 51-year-old women, suffering from an onycomycosis of the toe nails, was treated with itraconazole, 100 mg daily. Fourteen weeks later, she complained of jaundice, nausea, and epigastric discomfort. Itraconazole treatment was stopped immediately. She did not use other drugs. There was no history of alcohol abuse, hepatitis or transfusion. The laboratory investigations revealed marked elevation of serum bilirubin, aspartate aminotransferase and alanine aminotransferase, Histologic findings of liver disclosed acute hepatic necrosis. There was no clinical or serologic evidence of viral hepatitis. One month later, the laboratory data become almost normal. It is suggested that itraconazole therapy was a causal factor in this case of drug induced hepatitis.

에스자결장암에서 근치적 절제술 후 방사선 치료의 역할

박원(Won Park),성진실(Jinsil Seong),금기창(Ki Chang Keum),서창옥(Chang Ok Suh),이상욱(Sang Wook Lee),임지훈(Ji Hoon Lim),민진식(Jin Sik Min),노재경(Jae Kyung Roh),김주향(Joo Hang Kim),정현철(Hyun Cheol Chung),이강규(Kang Kyu Lee),김귀 대한방사선종양학회 1997 Radiation Oncology Journal Vol.15 No.4

목 적 : 에스자결장암으로 진단 받고 근치적 절제술이 시행된 환자를 대상으로 수술후 보조 요법으로서 방사선 치료의 역할을 평가하고자 하며, 방사선 치료를 받은 군과 받지 않은 군의 재발양상과 생존율을 비교하고, 방사선 치료를 추가함으로써 국소 제어율이나 생존율의 향상을 기대할 수 있는 요인을 분석해 보고자 하였다. 대상 및 방법 : 1988년 1월부터 1993년 12월까지 연세 의료원에서 에스자결장암이라고 진단받고 근치적 절제술을 시행받은 93례를 대상으로 하였다. 근치적 수술후 방사선 추가 여부에 따라 두 군으로 분류하였다. 에스자결장암으로 근치적 수술만 시행된 43례는 수술 단독군이라 하였고 수술후 보조 요법으로 방사선 치료가 추가된 50례는 방사선 치료군으로 분류하였다. 방사선 치료군에서 방사선 치료는 수술 후 1-2개월후부터 시작하였는데 원발 병소가 있었던 부위에 적어도 5cm의 여유를 두고 4 MV나 10 MV 선형 가속기를 이용하여 하루에 1.8Gy씩 50.4Gy-61Gy까지 조사하였다. 항암화학요법은 5-Fluorouracil을 이용하여 32례에서 시행하였는데 항암화학요법을 받은 예가 두 군간 의의있는 차이는 없었다. 결 과 : 5년 국소 제어율과 무병 생존율이 각각 85.1%, 68.5%였다. 수술 단독군과 방사선 치료군의 국소 제어율은 각각 76.2%와 91.7%였다. MAC Stage C3에서 방사선 치료군이 수술 단독군보다 국소 제어율과 무병 생존율이 높았다(P=0.01, P=0.06). MAC Stage B3에서 방사선 치료군이 수술 단독군보다 국소 제어율이 더 높았으나 통계적 의의는 없었다. 특히, 조직학적으로 원발 병소가 결장 주위를 넘어 다른 조직에 침윤이 있는 경우(Stage T4), 수술 단독군보다 방사선 치료군의 국소 제어율이 더 높았다. 결 론 : 에스자결장암에서 근치적 절제술후 MAC Stgae B3, C3 -특히, 주위 조직에 조직학적으로 침윤이 있는 경우-에서 방사선 치료를 추가함으로써 국소 제어율을 높이고, 생존율의 향상을 기대해 볼 수 있겠다. 그리고 에스자결장암에서 근치적 수술후 방사선 치료의 역할을 보다 명확하게 규명하기 위해서는 향후 전향적 연구가 필요하리라 생각된다. Purpose : To evaluate the role of postoperative radiation therapy after curative resection of sigmoid colon cancer Materials and Methods : From 1988 to 1993, a total of 93 patients with curative resectable sigmoid colon cancer of modified Astler- Coller (MAC) stage B2, B3, C2, C3 was divided into two groups on the basis of those who received radiation treatment and those who did not. Forty-three patients who treated by surgery alone were classified as postop RT (-) group. The remaining 50 patients who underwent postoperative radiotherapy were classified as postop RT (+) group. In all patients in postop RT (+) group, radiation therapy was delivered using 4 or 10 MV linear accelerators to treat the tumor bed with approximately 5cm margin to a total dose 50.4-61Gy (median 54Gy) in 1.8Gy per fraction. Thirty-two patients were treated with 5- Fluorouracil based adjuvant chemotherapy at least 3 cycles, but these was no significant difference between two groups. Treatment failure pattern, 5-year local failure-free survival rates (LFFS), and 5-year disease-free survival rates (DFS) were compared between two groups. Results : Five year LFFS and DFS were 85.1%, 68.5%, respectively. In postop RT (-) group, LFFS was 76.2%, compared with 91.7% in postop RT (+) group. Improved LFFS and DFS were seen for patients with stage C3 sigmoid colon carcinoma with postoperative radiation therapy compared with postop RT (-) group (P=0.01, P=0.06 respectively). In stage B3, LFFS was higher in postop RT (+) group than that in postop RT (-) group, although it was not significant. Especially, local control was higher in stage T4 in postop RT (+) group than that in postop RT (-) group. Conclusion : This study showed significantly improved LFFS and DFS in MAC Stage C3 and improved tendency of LFFS and DFS in MAC Stage B3 disease. Large scale prospective study is required to verify the role of adjuvant radiation therapy in resectable sigmoid colon cancer.

에스자결장암에서 근치적 절졔술 후 방사선 치료의 역할

박원,성진실,금기창,서창옥,이상욱,임지훈,민진식,노재경,김주항,정현철,이강규,김귀언,Park, Won,Seong, Jin-Sil,Keum, Ki-Chang,Suh, Chang-Ok,Lee, Sang-Wook,Lim, Ji-Hoon,Min, Jin-Sik,Roh, Jae-Kyung,Kim, Joo-Hang,Chung, Hyun-Cheol,Lee, Kang-K 대한방사선종양학회 1997 Radiation Oncology Journal Vol.15 No.4

목적 : 에스자결장암으로 진단 받고 근치적 절제술이 시행된 환자를 대상으로 수술후 보조 요법으로서 방사선 치료의 역할을 평가하고자 하며, 방사선 치료를 받은 군과 받지 않은 군의 재발 양상과 생존율을 비교하고, 방사선 치료를 추가함으로써 국소 제어율이나 생존율의 향상을 기대 할 수 있는 요인을 분석해 보고자 하였다. 대상 및 방법 : 1988년 1월부터 1993년 12월까지 연세 의료원에서 에스자결장암이라고 진단 받고 근치적 절제술을 시행받은 93례를 대상으로 하였다. 근치적 수술후 방사선 추가 여부에 따라 두 군으로 분류하였다. 에스자결장암으로 근치적 수술만 시행된 43례는 수술 단독군이라 하였고 수술후 보조 요법으로 방사선 치료가 추가된 50례는 방사선 치료군으로 분류하였다. 방사선 치료군에서 방사선 치료는 수술 후 1-2개월후부터 시작하였는데 원발 병소가 있었던 부위에 적어도 5cm의 여유를 두고 4 MV나 10 MV 선형 가속기를 이용하여 하루에 1.8Gy씩 50.4Gy-61Gy까지 조사하였다. 항암화학요법은 5-Fluorouracil을 이용하여 32례에서 시행하였는데 항암화학요법을 받은 예가 두 군간 의의있는 차이는 없었다. 결과 : 5년 국소 제어율과 무병 생존율이 각각 $85.1\%,\;68.5\%$였다. 수술 단독군과 방사선 치료군의 국소 제어율은 각각 $75.2\%$와 $91.7\%$였다. MAC Stage C3에서 방사선 치료군이 수술 단독군보다 국소 제어율과 무병 생존율이 높았다(P=0.01, p=0.06). MAC Stage B3에서 방사선 치료군이 수술 단독군보다 국소 제어율이 더 높았으나 통계적 의의는 없었다. 특히, 조직학적으로 원발 병소가 결장 주위를 넘어 다른 조직에 침윤이 있는 경우(Stage T4), 수술 단독군보다 방사선 치료군의 국소 제어율이 더 높았다. 결론 : 에스자결장암에서 근치적 절제술후 MAC Stgae B3, C3 -특히, 주위 조직에 조직학적으로 침윤이 있는 경우-에서 방사선 치료를 추가함으로써 국소 제어율을 높이고, 생존율의 향상을 기대해 볼 수 있겠다. 그리고 에스자결장암에서 근치적 수술후 방사선 치료의 역할을 보다 명확하게 규명하기 위해서는 향후 전향적 연구가 필요하리라 생각된다. Purpose : To evaluate the role of postoperative radiation therapy after curative resection of sigmoid colon cancer Materials and Methods : From 1988 to 1993, a total of 93 Patients with curative resectable sigmoid colon cancer of modified Astler-Coiler (MAC) stage B2, B3, C2, C3 was divided into two groups on the basis of those who received radiation treatment and those who did not. Forty-three patients who treated by surgery alone were classified as postop RT (-) group The remaining 50 patients who underwent postoperative radiotherapy were classified as postop RT (+) group. In all patients in Postop RT (+) group. radiation therapy was delivered using 4 or 10 MV linear accelerators to treat the tumor bed with approximately 5cm margin to a total dose 50.4-61Gy(median 54Gy) in 1.8Gy per fraction. Thirty-two patients were treated. with 5-Fluorouracil based adjuvant chemotherapy at least 3 cycles. but these was no significant difference between two groups. Treatment failure Pattern, 5-year local failure-free survival rates (LFFS), and 5-year disease-free survival rates (DFS) were compared between two groups. Result : Five year LFFS and DFS were $85.1\%,\;68.5\%$, respectively, In Postop RT (-) group, LFFS was $76.2\%$ compared with $91.7\%$ in Postop RT (+) group. Improved LFFS and DFS were seen for patients with stage C3 sigmoid colon carcinoma with postoperative radiation therapy compared with postop RT (-) group (P=0.01, p=0.06 respectively), in stage B3, LFFS washigher in postop RT (+) group than that in Postop RT (-) group. although itwas not significant. Especially, local control was higher in stage 74 inpostop RT (+) group than that in postop RT (-) group, Conclusion : This studv showed significantly improved LFFS and DFS in MAC Stage C3 and improved tendency of LFFS and DFS in MAC Stage B3 disease. Large scale prospective study is required to verify the role of adjuvant radiation therapy in resectable sigmoid colon cancer.

레이저 용접된 오스테나이트계 스테인리스강의 미세조직 및 기계적 특성에 관한 연구

박인덕(In Duck Park),정성민(Sung Min Jung),이광현(Kwang Hyeon Lee),서정(Jeong Suh),김공영(Kong Young Kim),남기우(Ki Woo Nam) 대한기계학회 2019 대한기계학회 춘추학술대회 Vol.2019 No.4

한국인 위암에서 Survivin과 HIAP-1 유전자 발현

박찬진,류승완,김인호,백원기,서성일,서민호,손수상,Park Chan Jin,Ryu Seung Wan,Kim In Hoo,Baek Won-Ki,Suh Seong-Il,Suh Min-Ho,Sohn Soo Sang 대한위암학회 2003 대한위암학회지 Vol.3 No.1

Purpose: Dysregulation of apoptosis may attribute to development of cancer by abnormally prolonging cell viability with accumulation of transforming mutations. Survivin and HIAP (Human Inhibitors of Apoptosis)-1 were recently described as apoptosis inhibitors. Their pathogenic roles in gastric cancer are largely unknown. In the present study, we examined the expression of survivin and HIAP-1 in gastric cancer tissues and cell lines in order to elucidate the roles of survivin and HIAP-1 in the process of gastric carcinogenesis. Materials and Methods: Eight gastric cancer cell lines and five gastric cancer tissues were studied. The expression of survivin and HIAP-1 were evaluated by reverse transcription -polymerase chain reaction (RT-PCR), immunohistochemistry, and Western blot. Results: Western blot and RT-PCR analysis revealed survivin and HIAP-1 expression in all gastric cancer cell lines. Increased expression of survivin and HIAP-1 were found in all cases of gastric cancer tissues compared to normal tissues by Western blot analysis. In immunohistochemical analysis tumor cells were stained with anti-survivin and anti-HIAP-1 antibodies. Cell cycle dependence of survivin expression was preserved in gastric cancer cell lines. Conclusion: The results indicate that increased expression of survivin and HIAP-1 genes may play an important role in gastric cancer.