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김용록,박종범,이영진,홍미진,김형태,Hyon J. Kim 대한재활의학회 2017 Annals of Rehabilitation Medicine Vol.41 No.3
Diagnostic exome sequencing (DES) is a powerful tool to analyze the pathogenic variants leading to development delay (DD) and intellectual disability (ID). Recently, heterozygous de novo mutation of the histone acetyltransferase encoding gene KAT6B has been recognized as causing a syndrome with congenital anomalies and intellectual disability, namely Say-Barber-Biesecker-Young-Simpson (SBBYS) syndrome. Here we report a case of SBBYS syndrome in a third generation Korean family affected with a missense mutation in KAT6B, c.2292C>T p.(His767Tyr) identified by DES. This is the first confirmed familial inherited mutation of the KAT6B reported worldwide. Our case emphasizes again the importance of basic physical examination and taking a family history. Furthermore, advances in genetic diagnostic tools are becoming key to identifying the etiology of DD and ID. This allows a physiatrist to predict the disease’s clinical evolution with relative certainty, and offer an appropriate rehabilitation plan for patients.
돼지 관상동맥 스텐트 재협착에 대한 Endothelin 수용체 차단제 국소 전달요법의 효과
김진우(Jin Woo Kim),강정채(Jung Chaee Kang),박창수(Chang Soo Park),김완(Wan Kim),정명호(Myung Ho Jeong),김용록(Yong Rok Kim),조장현(Jang Hyun Cho),김주한(Ju Han Kim),김성희(Sung Hee Kim),배열,안영근(Young Keun Ahn),박주형(Joo Hyung Pa 대한내과학회 1999 대한내과학회지 Vol.56 No.6
Objectives : Coronary stent is one of the most effective currently available devices in the treatment of coronary artery diseases. But, coronary stent restenosis is one of major limitations in clinical stenting. Local drug delivery may be a new strategy for the prevention of stent restenosis. Endothelin receptor blocker is known to have vasodilatory and antiproliferative activities. To investigate the effects of local endothelin receptor blocker delivery on stent restenosis, local delivery was performed in the porcine model of coronary stent restenosis. Methods : Stent overdilation injury alone was performed in the control porcine coronary arteries (n=4, group A) and local delivery of endothelin receptor blocker prior to stenting was performed in the porcine coronary artery (n=9, group B). Endothelin receptor blocker (TAK-044, Takeda, Japan) was delivered at a rate of 1 ml/min (50 mg/10 ml) using the Dispatch Catheter. Follow-up quantitative coronary angiogram (QCA) and immunohistopathologic assessment were performed 4 weeks after stenting. Results : 1) On QCA, percent diameter stenosis was significantly higher in Group A than in Group B (29.4±6.1 % vs. 14.5±11.6%, p<0.05). 2) Area stenosis was higher in Group A than in Group B (63.5±23.2 % vs. 40.9±13.3 %) measured by histopathologic method (p<0.05). 3) Neointimal area was higher in Group A than in Group B (3.53±1.9 mm2 vs. 1.75±0.8 mm2, p=0.03). 4) By immunocytochemistry, proliferating cell nuclear antigen index was higher in Group A compared with Group B (46.8±5.2 % vs. 31.1±3.7 %, p<0.05). Conclusion : Local delivery of endothelin receptor blocker is effective in the prevention of stent restenosis in a porcine model, which may be related with the partial inhibition of cell proliferation of neointimal cells.
김완(Wan Kim),김용록(Yong Rok Kim),염형렬(Houng Roul Youm),백종철(Jong Cheol Baek),이형우(Hyoung Woo Lee),고향미(Hyang Mee Ko),강헌석(Heon Seok Kang),임종철(Jong Cheol Lim),류형선(Heong Seon Rheu),명재일(Jae Il Myung) 대한내과학회 1999 대한내과학회지 Vol.56 No.6
Cutaneous metastases from gastric carcinoma are uncommon. The frequency of metastses to the skin from gastric carcinoma have ranged from 0.3% to 0.4%. Carcinoma en cuirasse, first described by Velpeau in 1838, is marked sclerodermatous change and characterized by a difffuse morphea-like induration of the skin and represents a rare manifestations of breast carcinoma metastatic to the chest wall. It is vary rarely seen in lung, stomach, kidney and other metastasizing malignancies. We report a case of carcinoma en cuirase and nodular carcinoma from gastric carcinoma in a 36-year-old male who complained chiefly of multiple cutaneous nodules. He had mixed lesions of an erythematous morphea-like induration on the neck and multiple erythematous nodules on the chest and abdomen. Gastroscopy finding showed a Borrmann type Ⅳ advanced gastric carcinoma. Histopathologic examination of skin and stomach showed atypical cells with pleomorpic, hyperchromatic nuclei and scanty, eosinophilic cytoplasm, which are consistent with poorly differentiated adenocarcinoma. Immunohistochemical stainings showed positive reaction for cytokeratin. He died three months after the appearance of cutaneous lesions.
사물인터넷 기반의 일상 건강정보 수집을 위한 스마트 홈 테스트베드 구축
채명수(Myungsu Chae),김용록(Yongrok Kim),김상식(Sangsik Kim),김상태(Sangtae Kim),정성관(Sungkwan Jung) 한국정보과학회 2017 정보과학회 컴퓨팅의 실제 논문지 Vol.23 No.5
사물인터넷 기술의 발달로 의료서비스의 질을 높이기 위한 정보통신기술과 의료서비스의 결합시도가 증가하고 있다. 사물인터넷 기술을 활용하면 개인의 건강 정보를 일상생활에서 지속적으로 수집 할 수 있으며, 이에 대한 분석을 통해 의료서비스 품질을 향상 시킬 수 있을 것으로 기대하고 있다. 하지만 일상 생활에서의 건강정보 수집을 위해 활용할 수 있는 사물인터넷 기기들의 부족과 사용자 편의성 저하등의 문제와 더불어, 개인 건강 정보에 대한 개인정보 보호 문제가 이러한 서비스들의 연구 개발 및 적용에 걸림돌이 되고 있다. 따라서 본 연구에서는 사용자가 자연스러운 일상 생활을 영유하는 상황에서 건강 관련 정보를 상시 수집하고 이를 개인 저장소에 저장하여 필요시에만 의료 종사자에게 제공할 수 있는 일상 건강정보 관리 서비스 시나리오를 구성하고, 이를 위한 사물인터넷기반 스마트 홈 테스트베드를 구축하였으며, 현재 사용자 실험을 진행 중에 있다. 본 연구 결과를 기반으로 추후 의료기기 제조업체, 병의원, 보험사 등과의 연계를 통해 일상의 건강정보에 기반한 고품질 의료 시범서비스 제공 방안을 모색하고 있으며, 다양한 건강관련 사물인터넷 기기의 활성화 및 일상 건강정보 분석을 통한 스마트 헬스케어 서비스의 활성화에 기여할 수 있을 것으로 기대한다. With the development of Internet of Things (IoT) technology, the combination of ICT and medical services has been increasing to improve the quality of medical services. Using the IoTs, we can collect personal health information continuously in a patient’s everyday life. We expect that this will improve the quality of medical service through analysis. However, the problem of ensuring the protection of personal information within the personal health information has been hampering the research, development, and application of such services. Other problems include lack of IoT devices and lack of user convenience for collecting health information about a patient’s everyday life. Therefore, in this study, we construct a daily health information management service that can collect the health related information at any time and store this data in personal storage. This data is then only provided to the healthcare worker when necessary. We built a test bed for an IoT-based smart home platform and are currently conducting user experiments. Based on the results of this study, we are attempting to provide a high quality medical trial service based on daily health information through linkage with medical device manufacturers, medical clinics, insurance companies, etc. We expect the proposed health information management service will contribute to the revitalization of smart health care services via activating various health related IoT devices and analyzing daily health information.