• Genomics & Informatics
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• 제3권4호
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• pp.159-165
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• 2005

The Korean Twin Register (n=154,783 pairs) was reported in 2002 as the first nationwide twin study in Korea and the largest study in Asia. The Twin Register has the information of disease outcomes since 1990, and basic clinical and questionnaire data from biennial health examination provided by Korea National Health Service. The author attempted to calculate some of the genetic parameters of cancers in this population. Common cancers in Korea known to have familial aggregation (colon and breast) and cancers of which familial aggregation is unclear (stomach cancer) were examined for their familial recurrence risks. There were 699 stomach cancers, 438 breast and 491 colorectal cancers cases in the twin register between 1991 and 2003. Like-sex twins showed recurrence risks (${\lambda}_{LS}$) of 5.1 (95% CI 3.7-6.9) for stomach cancers, 15.5 (95% CI1 0.9-20.2) for female breast cancers, and 28.1 (95% CI 23.5-34.4) for colon cancers. Colorectal cancers of female like-sex twins show significantly higher familial recurrence risk 40.7 (95% CI 34.6-47.4), suggesting higher genetic contribution in women than in men. The results show increased familial risks compared with previous studies from the same register and are largely compatible with other studies. The data of the Twin Register could be used for estimating population level genetic parameters, as well as base of the various studies.

• 대한족부족관절학회지
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• 제16권2호
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• pp.108-115
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• 2012

Purpose: To evaluate several risk factors related to re-ulceration of diabetic foot including psychosocial aspects such as familial support and degree of independence of patients' activity. Materials and Methods: We reviewed medical records and performed telephone interview with eighty-five patients who had a history of hospitalization in our hospital due to diabetic foot ulceration from year 2002 to 2010. Based on the collected data, we analyzed several factors such as age, gender, prevalence duration, accompanying diseases, HbA1c level, degree of independence and familial support. Results: The mean age was 61.4 years and most common in the 4th decade. There were 57 cases (67%) of recurrence, predominance of male. Eleven patients with recurrent diabetic foot ulceration had undergone major amputations. Psychosocial problems such as depression, insufficient familial support and mortality were more frequently observed in recurrent group. Conclusion: This study shows that psychosocial factor such as familial support for patient with diabetic foot could be important to reduce the recurrence rate of diabetic foot ulceration. Therefore, we should pay attention to strategic plans for prevention, screening, treatment, and aftercare through the prospective studies including psychosocial risk factor in diabetic foot ulceration.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제27권1호
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• pp.71-76
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• 2024

Recurrence of progressive familial intrahepatic cholestasis (PFIC) type II poses challenges during postoperative liver transplant care. Posttransplant patients with PFIC type II risk developing recurrent cholestasis with normal gamma-glutamyl transferase activity, which mimics the original bile salt export pump (BSEP) protein deficiency and is related to a form of immunoglobulin G antibody (anti-BSEP)-mediated rejection. Bortezomib effectively induces apoptosis of actively antibody-producing plasma cells that may have a role in antibodymediated rejection. In this case, we used bortezomib to treat PFIC type II recurrence after liver transplantation in a child.

• 대한병리학회지
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• 제52권6호
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• pp.386-395
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• 2018

Background: Previous studies on synchronous colorectal carcinoma (SCRC) have reported inconsistent results about its clinicopathologic and molecular features and prognostic significance. Methods: Forty-six patients with multiple advanced tumors (T2 or higher category) who did not receive neoadjuvant chemotherapy and/or radiotherapy and who are not associated with familial adenomatous polyposis were selected and 99 tumors from them were subjected to clinicopathologic and molecular analysis. Ninety-two cases of solitary colorectal carcinoma (CRC) were selected as a control considering the distributions of types of surgeries performed on patients with SCRC and T categories of individual tumors from SCRC. Results: SCRC with multiple advanced tumors was significantly associated with more frequent nodal metastasis (p=.003) and distant metastasis (p=.001) than solitary CRC. KRAS mutation, microsatellite instability, and CpG island methylator phenotype statuses were not different between SCRC and solitary CRC groups. In univariate survival analysis, overall and recurrence-free survival were significantly lower in patients with SCRC than in patients with solitary CRC, even after adjusting for the extensiveness of surgical procedure, adjuvant chemotherapy, or staging. Multivariate Cox regression analysis revealed that tumor multiplicity was an independent prognostic factor for overall survival (hazard ratio, 4.618; 95% confidence interval, 2.126 to 10.030; p<.001), but not for recurrence-free survival (p=.151). Conclusions: Findings suggested that multiplicity of advanced T category-tumors might be associated with an increased risk of nodal metastasis and a risk factor for poor survival, which raises a concern about the guideline of American Joint Committee on Cancer's tumor-node-metastasis staging that T staging of an index tumor determines T staging of SCRC.

• 대한골관절종양학회지
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• 제6권1호
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• pp.41-46
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• 2000

다발성 황색종을 보이는 가족성 고콜레스테롤혈증 환자 1례를 경험하고 수술 및 내과적 치료를 병행하였으며, 계속 추적관찰 중이기에 문헌고찰과 함께 이에 보고하고자 한다. 전신 22 곳에 다발성 황색종을 보이는 26세 남자의 가족성 고콜레스테롤혈증 환자에서 17군데의 황색종을 수술적으로 절제하고, 고콜레스테롤혈증에 대하여는 내과적 약물치료를 병행하였으며, 술 후 13개월 이상 추적 관찰하였다. 환자는 정상적인 수술창의 치유과정을 보였고, 술 후 Simvastatin 약물치료를 병행하고 있으며, 1년 후 최종추시시 종괴의 재발은 없었으나 고콜레스테롤혈증의 치료는 미세한 변화만을 보여 계속 내과적 추적관찰 중이다. 가족성 고콜레스테롤혈증은 저밀도지단백 콜레스테롤의 증가, 건 황색종 및 관상동맥 질환을 특징으로 하며, 상염색체 우성으로 유전되는 지질대사의 장애를 보이는 질환이다. 황색종은 보통 10대에 처음 발견되고 조기 진단에 중요한 단서가 될 수 있으며, 특히 종골건 황색종은 가족성 고콜레스테롤혈증의 첫 번째 임상징후로 나타날 수 있다. 고콜레스테롤혈증은 관상동맥경화증의 위험이 높아 조기 진단과 치료가 중요하며, 이에 정형외과 의사도 황색종의 수술적 제거외에 이러한 숨어 있는 질환을 진단할 수 있어야 하겠다.

• Clinical and Experimental Pediatrics
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• 제52권6호
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• pp.674-679
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• 2009

목 적 : 양측성 망막모세포종 환자들의 치료 후 장기후유증을 분석하고자 하였다. 방 법 : 1987년 10월부터 1998년 10월까지 원자력병원에서 치료를 받고 10년 이상 장기추적관찰 중인 양측성 망막모세포종 환자 22명의 의무기록을 분석하였다. 진단시 연령, 치료지연, Reese-Ellsworth (RE) 분류, 국소치료방법 등의 임상 변수와 생존율, 안구합병증을 포함한 장기후유증의 발생과의 관계를 알아보았다. 결 과 : 진단 시 정중 연령은 7.0 개월로(범위, 1.7-31.6개월), 백색동공으로 내원한 경우가 가장 많았다. 44개 안구의 RE 분류는 각각 group II (n=4), III (n=14), IV (n=4), V (n=22)이었다. 추적관찰 141개월째인 현재 20명이 생존하여 있으며, 10년 안구생존율은 $56.8{\pm}7.5%$이었다. 임상변수 중, 3개월 이상의 치료지연이 재발과 관련이 있었다. 방사선 치료 후 백내장, 망막박리, 안구로, 안면비대칭 등의 합병증이 관찰되었으며 현재까지 이차성 종양의 발생은 없었다. 결 론 : 안구생존율을 향상시키기 위해서는 종양을 조기에 발견하도록 노력하고 진단즉시 치료를 시작해야 할 것이다. 이와 더불어 장기적인 후유증의 발생여부에 대해서도 세심한 추적관찰이 필요하다.