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이승준,김은진,조성임,박현웅,서수현,성문우,박성섭,정성은,이성철,박귀원,김현영 대한진단검사의학회 2018 Annals of Laboratory Medicine Vol.38 No.3
Background: The major genetic cause of Currarino syndrome (CS), a congenital malformation syndrome typically characterized by sacral agenesis, anorectal malformation, and presence of a pre-sacral mass, is known to be pathogenic variants in motor neuron and pancreas homeobox 1 (MNX1), which exist in almost all familial cases and 30% of sporadic cases. Less commonly, a large deletion or a complex rearrangement involving the 7q36 region is associated with CS. We investigated the spectrum of MNX1 pathogenic variants and associated clinical features in the Korean patients with CS. Methods: We enrolled 25 patients with CS, including 24 sporadic cases and one familial case. Direct sequencing of MNX1 and multiplex ligation-dependent probe amplification were performed. We also analyzed clinical phenotypes and evaluated genotype-phenotype correlations. Results: We identified six novel variants amongst a total of six null variants, one missense variant, and one large deletion. The null variants included four frameshift variants (p.Gly98Alafs* 124, p.Gly145Alafs*77, p.Gly151Leufs*67, and p.Ala216Profs*5) and two nonsense variants (p.Tyr186* and p.Gln212*). The missense variant, p.Lys295Gln, was located in the highly-conserved homeobox domain and was predicted to be deleterious. A large deletion involving the 7q36 region was detected in one patient. Pathogenic variants in MNX1 were detected in 28% of all CS cases and 25% of sporadic cases. The clinical phenotype was variable in patients with and without pathogenic variants; no significant genotype-phenotype correlation was observed. Conclusions: This study revealed the spectrum and phenotypic variability of MNX1 pathogenic variants in the Korean population.
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알레르기 질환 유무에 따른 식생활 습관과 식품섭취패턴의 비교 연구
양승혜(Yang Seung Hye),김은진(Kim Eun Jin),김영남(Kim Young Nam),성기승(Seong Ki-Seung),김성수(Kim Sung-Soo),한찬규(Han Chan-Kyu),이복희(Lee Bog-Hieu) 韓國營養學會 2009 Journal of Nutrition and Health Vol.42 No.6
본 연구는 알레르기 유발에 영향을 미치는 요인과 식품 알레르기 빈도 및 그 원인 식품을 조사하기 위하여 다양한 연령의 알레르기 환자 62명과 정상인 69명을 대상으로 2008년 8∼9월 2개월 동안 설문조사를 실시하였다. 설문지의 조사항목으로는 일반사항, 알레르기 환자에 대한 일반사항, 생활습관, 식습관 및 식품 알레르기의 발생 빈도가 높은 식품에 대한 섭취 빈도에 대하여 분석하였다. 그 결과는 다음과 같다. 1) 일반사항 조사 결과 알레르기 환자군이 정상군에 비해서 가정의 한 달 평균 수입이 높은 것으로 나타났고, 알레르기 환자군이 정상군에 비해 애완동물을 많이 보유하고 있었으며 (p < 0.05), 알레르기 환자군이 정상군보다 식물을 더 많이 키우고 있는 것으로 나타났다 (p < 0.05). 2) 알레르기 환자의 알레르기 질환양상에 대한 조사결과, 복합적인 증상과 두개 이상의 알레르기를 경험한 환자가 많았고, 알레르기 유발 요인으로는 집먼지 진드기와 식품의 비율이 높게 나타났으며, 계절과는 상관없이 알레르기 증상이 나타나는 환자가 많았다. 또한 알레르기 가족력이 있는 환자가 많았으며 (66.1%), 최선의 예방방법은 주위 환경을 깨끗이 하여야 한다고 생각하는 환자가 가장 많았다 (45.2%). 3) 생활습관 조사결과, 운동 빈도는 두 군간 차이가 없었으며 음주 빈도는 알레르기 환자군이 정상군에 비해 유의적으로 높게 나타났다 (p < 0.01). 4) 식습관은 알레르기 환자군이 정상군에 비해 결식의 비율이 높고, 간식을 많이 섭취하고 있는 것으로 나타났다 (p < 0.05). 5) 식품 알레르기의 발생 빈도가 높은 식품에 대한 섭취 빈도를 살펴보면, 알레르기 환자군이 정상군 보다 계란 (p < 0.05), 돼지고기 (p < 0.001), 호두 (p < 0.05), 양파 (p < 0.05), 참치 (p < 0.05), 조개류 (p < 0.05), 키위 (p < 0.05), 인스턴트식품 (p < 0.05)의 섭취빈도가 유의적으로 높은 것으로 나타났다. The aim of this study was to examine and compare the eating habits and dietary intake patterns of people with or without allergy by the survey during August-September, 2008. The 131 subjects aged 10’-50’ (AG = allergy group, n = 62; NG = non-allergy group, n = 69) participated in this study. The questionnaire included general characteristics, dietary habits, and food frequency. Income level tended to be higher in AG than in NG, and AG had more pets and flower pots than NG (p < 0.01). In AG, most affected area of allergy was the skin and the subjects in AG experienced the mixed symptoms and more than 2 types of allergy. Family history of allergy was highly related with allergy of the subjects (AG: 66.1%, NG: 33.9%). Both groups did not exercise regularly, but frequency of alcohol drinking in AG was significantly higher than in NG (p < 0.01). AG skipped meals and had snacking more often than NG (p < 0.05). Most favorite snacks in AG were instant foods, fast foods, cookies, and ice cream (p < 0.05). Therefore, AG tended to consume more allergy-related foods than NG. Highly-consumed allergy-related foods were egg, pork, walnut, onion, tuna, shellfish, and kiwi (p < 0.05). Therefore, nutrition education and guidance is needed to establish good eating habits, food intakes, and life style in people having allergy.
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육안적 혈뇨로 내원한 환자에서 발견된 방광 유전분증 : 증례보고
김은진;성 현;홍수민;정성연;박경식;손형래;박일권;구호석;고행일 인제대학교 백병원 2011 仁濟醫學 Vol.32 No.-
Amyloidosis is a disease resulting in deposition of amyloid in the body. The disease can be either primary or secondary. The amyloidosis of urinary bladder is more usually affected by primary amyloidosis and also very rare. The patient with primary amyloidosis of the bladder usually presents with gross hematuria. The amyloidosis resembles bladder cancer in cystoscopy. It can be confirmed by biopsy. The treatment consists of medication (e.g., steroid, antitumor agent, cholchicine, DMSO) and/or transurethral resection. The standard treatment is mephalan and prednisolone. A 49-year-old man complained of recently developed gross hematuria without abdominal pain. We examined urinary bladder cystoscope for gross hematuria. It revealed small bulging mass on trigone are a of bladder. Therefore we did bladder biopsy. Finally, it revealed bladder amyloidosis. The patient was improved by medication (mephalan 2mg and prednisolone 1 mg/kg po daily). We report an unusual case of amyloidosis involving bladder.
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