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RISS 인기검색어
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- 저자 : 성문우 ( Moon Woo Seong ) (검색결과 5 건)
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A Case of End-Stage Renal Disease with Joubert Syndrome due to CEP290 Mutation
김성훈,이상택,성문우,김만진,이준화,Kim, Sung Hoon,Lee, Sang Taek,Seong, Moon-Woo,Kim, Man Jin,Lee, Jun Hwa The Korea Society of Inherited Metabolic Disease 2020 대한유전성대사질환학회지 Vol.20 No.1
Joubert syndrome (JS) is a rare genetic disorder that is characterized by ataxia, hypotonia, developmental delay, respiratory abnormalities such as apnea-hyperpnea, and abnormal eye movements. The pathognomonic diagnostic finding is the "molar tooth sign" (MTS) on brain magnetic resonance imaging (MRI), described as cerebellar vermis hypoplasia or dysplasia, thick and horizontally oriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. JS is characterized by genetic heterogeneity: pathogenic variants in over 30 genes have been identified to date. The CEP290 protein, which is on chromosome 12q21.3, is most frequently mutated in patients with JS, especially with renal involvement. Here, we report a case of JS in a 14-year-old male patient with end-stage renal disease. To the best of our knowledge, this is the first Korean report of a patient with JS due to CEP290 mutation (c.6012-12T> A) whose diagnosis was confirmed after repetitive MRI. We suggest consultation with an experienced neuro-radiologist and follow-up MRI studies to detect a "hidden" MTS if clinical findings suggest a diagnosis of JS. Furthermore, even in the absence of an MTS, whole exome sequencing should be considered.
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조선시대 미라 뇌 조직을 이용한 질병 관련 유전자 진단에서 Multiplex Ligation Dependent Probe Amplification Assay 기법 적용 가능성 검토
김유수(You Soo Kim),오창석(Chang Seok Oh),홍종하(Jong Ha Hong),성문우(Moon-Woo Seong),신동훈(Dong Hoon Shin) 대한체질인류학회 2015 해부·생물인류학 (Anat Biol Anthropol) Vol.28 No.3
Multiplex Ligation dependent Probe Amplification (MLPA) 기법은 거대 결실/중복을 확인하여 다양한 질병을 진단하는 도구로 임상의학 영역에서 폭넓게 이용되고 있다. 이 기법은 소량의 DNA만 있어도 분석이 가능하고 실험이 간단한 장점이 있어 고고학 현장에서 얻어진 옛 사람 시료 연구에 유리한 점이 있을 것이라 판단된다. 하지만 실제로 이 기법을 체질인류학 연구에 성공적으로 적용할 수 있을 지에 대해서는 관련 정보가 충분치 않아 아직 확신할 수 없다. 본 연구는 이에 조선시대 미라에서 얻어진 시료에 현재 가장 많이 상업적으로 가장 많이 쓰이는 MLPA 기법을 적용하여 객관적으로 관련된 정보를 얻고자 하였다. 이 연구에서는 실험이 시도된 여러 미라 시료 중 단 한 개체 (HD2)에서만 분석을 시도할만한 결과를 얻었지만 이에 대해서도 완전히 신뢰할 수 있는 수준이라고 판정하기에는 미흡하였다. 이에 따라 우리나라 옛 사람 시료 연구에 MLPA 기법을 적용할 때 현재 임상적으로 사용되는 기법의 단순 적용만으로는 성공하기 어려우며 이를 보완한 추가적 기술 개발이 앞으로 필요한 상태임을 알게 되었다. Multiplex Ligation dependent Probe Amplification (MLPA) to detect large deletions or duplications has been widely used as a diagnostic tool for various disease clinically. As this method requires only a small amount of template DNA and is very simple and high throughput, it has numerous advantages for the analysis of the human specimen obtained from archaeological sites. In this study we therefore tried to perform MLPA analysis for detecting any of duplications or deletions in mummy samples (n=4) from medieval Joseon tombs of Korea. Of them, we could not get any authentic data from 3 samples by MLPA method while only one case (HD2) showed the possible presence of duplications or deletions during her lifetime. Although the current report reveal that MLPA is a promising tool for anthropological study in South Korea, more studies are still needed to make up for the validity problem of commercial MLPA kit used in this study.
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가족력을 동반한 Stickler 증후군에서 COL2A1 유전자 돌연변이로 조기 진단한 신생아 1례
김호영 ( Ho Young Kim ),최민선 ( Min Seon Choi ),성문우 ( Moon Woo Seong ),박성섭 ( Sung Sup Park ),박상기 ( Sang Kee Park ) 대한주산의학회 2014 Perinatology Vol.25 No.2
Stickler syndrome is a progressive, hereditary disorder of connective tissue caused by mutations in different collagen genes. It is characterized by distinctive ocular, auditory, skeletal and oro-facial abnormalities and associated with long-term respiratory, nutritional, and developmental difficulties. Therefore, early detection and early treatment of Stickler syndrome is very important. We reported a case of Stickler syndrome in a newborn with family history and COL2A1 gene mutation.
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이정아,김진아,최원준,채희복,윤세진,박선미,성노현,정성한,이문우 대한소화기내시경학회 1999 Clinical Endoscopy Vol.19 No.6
Gastric hamartoma is usually an asymptomatic, small, sessile polyp, located in the body and fundus of the stomach. A case was experienced involving a solitary large hamartomatous polyp prolapsing through the pylorus in a 63-year old female presented with melena. A gastroendoscopy determined a pedunculated gastric polyp prolapsing through the pylorus with fresh blood oozing and congestion. A UGI series revealed that a 5 cm sized lobulated mass with a long stalk attached at the greater curvature side of the fundus. The polyp was removed by an endoscopic snare polypectomy and diagnosed as a gastric hamartoma.
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Genta 염색을 이용한 위점막 장상피화생 부위의 Helicobacter pylori 부착 빈도
이정아,최원준,채희복,윤세진,박선미,성노현,정성한,정지봉,이문우 대한소화기내시경학회 2000 Clinical Endoscopy Vol.20 No.1
Background/Aims: Infection with Helicobacter pylori is the most important cause of chronic active gastritis. One means of evolution of chronic active gastritis is the development of atrophic gastritis, a condition almost universally associated with extensive intestinal metaplasia. But Helicobacter pylori is not usually found in areas of intestinal metaplasia. Recently Genta RM developed a staining technique that allows simultaneous visualization of Helicobacter pylori and gastric morphology, including intestinal metaplasia. Therefore, the evaluation of the frequency of Helicobacter pylori adherence to intestinal metaplasia using the Genta stain is herein reported. Methods: The study was conducted on 69 gastric biopsy specimens with intestinal metaplasia. Slides from each specimen were stained using the Genta stain to identify the adherence of bacteria and types of intestinal metaplasia. Results: In 56 (81%) of 69 patients, incomplete intestinal metaplasia was found. In 9 (16%) of 56 patients with incomplete intestinal metaplasia, H. pylori was attached in the area of intestinal metaplasia. But in all of the intestinal metaplasia, H. pylori was not attached in the area of the intestinal metaplasia Conclusions: The common subtype of intestinal metaplasia was incomplete metaplasia. Although in small cases, H. pylori was attached only to the area of the incomplete type of intestinal metaplasia.
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