• Genomics & Informatics
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• v.3 no.4
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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.

• Journal of Korean Foot and Ankle Society
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• v.16 no.2
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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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• v.27 no.1
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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.

• Journal of Pathology and Translational Medicine
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• v.52 no.6
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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.

• The Journal of the Korean bone and joint tumor society
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• v.6 no.1
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• pp.41-46
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• 2000

We experienced the case of familiar hypercholesterolemia with multiple xanthomas which was treated by combined surgical and medical therapy. He was 26-year-old male patient of familiar hypercholesterolemia with multiple xanthomas in 22 sites on whole body, and was treated by 17 surgical excisions of the xanthomas and by medical therapy of the hypercholesterolemia. There was a normal healing process of the surgical wounds. Continual postoperative medical therapy of the hypercholesterolemia was done. There was no recurrence of the symptoms during more than 13 months of follow-up. But the serum level of the cholesterol was not lowered significantly, so we are treating him with drug therapy. Familial hypercholesterolemia is caused by a specific disorder of lipid metabolism, and is characterized by increased LDL cholesterol, tendon xanthomas, coronary disease associated with autosomal dominant transmission. Xanthomas usually appear in the second decade of life with familiar hypercholesterolemia which may have high risk for premature coronary atherosclerosis, which might be prevented with early diagnosis and medical treatment. So, orthopedic surgeons do not only excise the xanthomatosis surgically but also can diagnose the underlying hypercholesterolemia.

• Clinical and Experimental Pediatrics
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• v.52 no.6
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• pp.674-679
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• 2009

Purpose : The authors aimed to analyze the long-term effects of treatments, especially external beam radiotherapy (EBRT), in bilateral retinoblastoma patients. Methods : This retrospective study analyzed the medical records of 22 bilateral retinoblastoma patients who were registered between October, 1987 and October, 1998 and followed-up for more than 10 years. They were treated by enucleation, EBRT, and systemic chemotherapy. Age at diagnosis, sex, delay prior to treatment, Reese-Ellsworth (RE) classification, and the local treatment modalities were analyzed in relation to recurrence-free survival (RFS) and complications. Results : Median age at diagnosis was 7.0 months (range 1.7-31.6 months). Leukocoria was the most common presenting feature. Two patients had a familial history. The RE classifications of the 44 eyes were group II in 4, III in 14, IV in 4, and V in 22. At the end of a median follow-up period of 141 months (range 55-218 months), 20 patients were alive. The 10-year ocular survival rate of the 44 eyes was $56.8{\pm}7.5%$. The 10-year RFS and ocular survival rate of the 29 eyes treated by combined EBRT and chemotherapy were 75.9% and 86.2%, respectively. Treatment delay (>3 months) was found to be related to higher risk of recurrence. Complications after EBRT were cataract, retinal detachment, phthisis bulbi, and facial asymmetry. No patient developed a second malignancy during the follow-up period. Conclusion : Early detection and prompt treatment can increase ocular survival rates. In addition, careful attention should be paid to possible long-term sequelae in these patients.