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RISS 인기검색어
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- 저자 : Seong Don Seo(서승돈) (검색결과 2 건)
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Distal Myopathy with Rimmed Vacuoles Confirmed by Whole Exome Sequencing
Seong Don Seo(서승돈),Hyung Jun Park(박형준),Hyun Seok Song(송현석),Hye Jin Kim(김혜진),Jin-Mo Park(박진모),Young Bin Hong(홍영빈),Ki Wha Chung(정기화),Byung-Ok Choi(최병옥) 한국생명과학회 2014 생명과학회지 Vol.24 No.3
Rimed vacuole을 가진 원위 근육병(distal myopathy with rimmed vacuoles, DMRV)은 제2형 유전성 봉입체 근육병으로도 불리며 초기 성인기에 발병하여 원위부의 근력약화를 보이는 임상양상과 rimmed vacuole의 근육병리소견을 특징으로 하는 상염색체 열성의 근육병이다. 이러한 DMRV의 원인은 UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) 유전자의 돌연변이임이 밝혀져 있다. 저자들은 원위부 근력약화를 호소 하는 환자에서 전체 엑솜 염기서열분석을 이용하여 GNE 유전자의 복합 이형접합성 돌연변이(p.Asp176Val 및 p.Val572Leu)를 확인하여 DMRV를 진단할 수 있었다. 본 연구는 근육병의 정확한 분자진단에 있어서 전체 엑솜 염기서열분석의 유용성을 보여주었기에 이를 보고하는 바이다. Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy 2 is an autosomal recessive muscular disorder characterized by early adult-onset weakness of distal muscles and rimmed vacuoles in muscle biopsy. Mutations in the UDP-N-acetylglucosamine 2-epimerase/N-ace-tylmannosamine kinase (GNE) gene are associated with the development of DMRV. In this study, whole exome sequencing (WES) revealed compound heterozygous GNE mutations of p.Asp176Val and p.Val572Leu in a patient with distal limb weakness. Three hundred healthy controls did not show these mutations. All other variants found in distal myopathy-relevant genes were polymorphic. These findings confirmed that the patient had DMRV. This work underscores the usefulness of WES in improving the molecular diagnosis of myopathy.
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기관지 천식 환자에서 단기간의 부신피질호르몬제 투여가 뇌하수체 및 부신피질 기능에 미치는 영향
김옥란(Ok Lan Kim),서승천(Seung Cheon Seo),허성호(Sung Ho Hue),최병휘(Byung Hue Choi),배혜상(Hae Sang Bae),성천모(Cheon Mo Seong),이재용(Jae Yong Lee),최민석(Min Seok Choi),이원돈(Won Don Lee) 대한내과학회 1989 대한내과학회지 Vol.36 No.1
N/A Short-term, high dose corticosteroid therapy is often required for control of acute asthma episodes. To evaluate possible Hypothalamic-Pituitary-Adrenal (HPA)-axis suppression and recovery after such therapy, we studied 7 patients with adult acute asthma before and at 1, 3 and 7 days after completion of a 12 day course of corticosteroid. Corticosteroid was administered as a loading dose (methylprednisolone which was equivalent to 4 mg of hydrocortisone/kg body weight) and maintenance dose (equivalent to 3mg of hydrrcortisone/kg body weight/6 hours) for 3 days, followed by prednisolone (usual start dose was prednisolone 60 mg as a single daily morning dose). The dose was then reduced in half every 3 days. The function and reserve of the HPA-axis were evaluated with basal plasma cortisol, ACTH and short corticotropin stimulation tests. The results obtained were as follows: 1. Baseline plasma cortisol, ACTH, and cortisol responses to corticotropin before corticosteroid treatment were 10.3±5.6 ㎍/dl, 25.4±8.4 /㎍/ml, and 17.7±6.2 ㎍/dl, respectively. 2. One day after corticosteroid therapy, plasma cortisol and ACTH levels (3.9±2.4 ㎍/dl, 9.2±9.0 pg/ml) were significantly reduced compared to pretreatment levels (p<0.01. p<0.01), but the cortisol responses to corticotropin were preserved. 3. Three days after concluding the corticosteroid therapy, plasma cortisol and ACTH levels had returned to 68.9% and 71.7% of the pretreatment levels respectively, and were restored to near pretreatment baseline levels 7 days after treatment. These data suggest that a brief course of high dose corticosteroid treatment may limit the adrenal component of HPA responses for up to 7 days and patients may be at risk if they encounter major surgery or infection during this time.
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