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        말초 이골증을 동반한 Joubert Syndrome 1례

        김정태,김선준,주찬웅,조수철,이대열,Kim, Jung Tae,Kim, Sun Jun,Joo, Chan-Uhng,Cho, Soo Chul,Lee, Dae-Youl The Korean Pediatric Society 2007 Clinical and Experimental Pediatrics (CEP) Vol.50 No.3

        본 증례 보고는 작은 키와 단지증을 가진 전형적인 Joubert Syndrome 환아의 10년간 장기 추적 관찰한 결과이다. 환아는 영아기 초기부터 저호흡이 동반된 빈호흡, 율동성 안구 운동, 근긴장저하를 보였다. 생후 5개월에 Joubert Syndrome의 임상 증상과 전형적 MRI 소견을 보여 진단되었다. 비정상 호흡과 안구 운동은 4세경에 사라졌다. 두위는 정상 범위를 유지하였으나 키와 몸무게는 뚜렷히 정체되었다. 단순 방사선 소견 상 뇌압 상승 소견이 있는 커진 두개골과 안면골의 저형성, 손과 발의 비정상적 연골 형성을 보였다. 본 증례는 말초 이골증이 있는 Joubert Syndrome의 첫번째 보고이다. This report describes the long-term follow-up of a 10-year-old female patient with Joubert syndrome with short stature and brachydactyly. She presented with hyperpnea alternated with hypopnea, uncontrolled jerking eye movements, and hypotonia during early infancy. She was diagnosed with Joubert syndrome based on clinical symptoms and typical MRI findings at 5 months of age. Abnormal ventilation and eye movements disappeared at around 4 years of age. Head circumference kept within normal range for her age, but her height and weight growth were markedly retarded. Simple X-ray showed an enlarged skull with increased digital markings, hypoplasia of facial bones, and abnormal enchondral bone formations in hands and feet. This article is the first report of Joubert syndrome with peripheral dysostosis.

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        유방암에서 Insulin-like Growth Factor Binding Protein (IGFBP)-3 및 PTEN 발현의 감소와 임상병리학적 소견과의 관련성

        정성후(Sung Hoo Jung),윤현조(Hyun Jo Youn),김민선(Min Sun Kim),김선영(Sun-Young Kim),황평한(Pyoung Han Hwang),이대열(Dae-Youl Lee) 대한외과학회 2010 Annals of Surgical Treatment and Research(ASRT) Vol.79 No.2

        Purpose: Insulin-like growth factor binding protein (IGFBP-3) and phosphatase and tensin homolog (PTEN) are tumor-suppressor genes that may be involved in breast tumorigenesis. However, the roles of these genes in the regulation of breast cancer growth or progress are unclear. In this study, we aimed to find any correlation between the reduction of IGFBP-3 or PTEN protein expression in cancer tissues and the clinicopathological parameters in breast cancer. Methods: We collected both cancer and adjacent normal tissues from 46 breast cancer patients (from January 1 to December 31, 2006), and checked the IGFBP-3 and PTEN protein levels in cancer and adjacent normal tissues using Western immunoblot. We evaluated the correlation of reduction status of IGFBP-3 and PTEN protein expression with variable clinicopathological parameters. Results: The frequency of IGFBP-3 and PTEN protein reduction in cancer tissue, compared to adjacent normal tissue, was 63.0% and 34.8%, respectively. And in 87.5% of patients, who showed significant PTEN reduction, IGFBP-3 protein expression was reduced in cancer tissues. In contrast, IGFBP-3 protein reduced in only 50% of patients who didn’t show PTEN reduction. However, we did not find any significant correlation between reduction of IGFBP-3 or PTEN expression in cancer tissue and variable clinicopathological parameters. Conclusion: The IGFBP-3 and PTEN genes were expressed in all breast cancer tissues. Nonetheless, we did not find any significant relationship between reduction of IGFBP-3 or PTEN expression and the clinicopathological parameters in this study. Therefore, further studies are needed to document the roles of IGFBP-3 and PTEN genes in breast cancer growth or progress.

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