다공성 알루미늄 산화 막 상에 증착된 Ni 박막의 성장 및 자기적 특성 연구

송아리,박영옥,이효진,김대환,류상희,김철성,고태준 한국자기학회 2010 한국자기학회 학술연구발표회 논문개요집 Vol.2010 No.6

새로운 유전자 돌연변이로 확진된 Ornithine Transcarbamylase (OTC) 결핍증 1례

송아리,이기욱,양아람,김진섭,박형두,조성윤,진동규,Song, Ari,Lee, Kiwuk,Yang, Aram,Kim, Jinsup,Park, Hyung-Doo,Cho, Sung Yoon,Jin, Dong-Kyu 대한유전성대사질환학회 2016 대한유전성대사질환학회지 Vol.16 No.3

요소 회로 대사 이상은 요소 합성에 관련된 효소의 결핍으로 인해 발생하는 질환으로, ornithine과 carbamylphosphate로부터 citrulline을 생성하는 과정에 관여하는 효소인 OTC 결핍증이 가장 흔하다. OTC 결핍증은 ammonia, glutamate, glutamine, alanine 등의 축적되면서 고암모니아 혈증 및 고글루타민 혈증으로 인한 신경학적 증상이 나타나게 되며, 근긴장 저하, 호흡 부전, 경련, 기면, 혼수로 진행하여 사망에 이르게 된다. 저자들은 생후 4일 경부터 구토와 함께 의식의 저하를 보인 환자에서 직열 질량 분석법을 통해 OTC 결핍증을 진단하였고, 증상 발생 31시간 만인 생후 118시간 째에 지속적 정정맥 혈액여과(continuous venovenous hemofiltration, CVVH)을 적용하여 고암모니아 혈증을 치료하였다. 또한 직접염기서열분석법을 통해 780번과 781번 염기 사이에 CAGGCAGTGT가 삽입되는 변이(c.780_781insCAGGCAGTGT (p.Ile261Glnfs*35))를 발견하였다. 환자는 4일 간의 CVVH 이후 혈중 암모니아 농도와 의식이 호전되어 생후 53일 째 퇴원하였으나, 생후 12개월 경 좌측 대퇴골의 골절과 골수염이 발생하였고, 이후 패혈증 쇼크, 고혈당, 다발성 장기부전으로 사망하였다. 이에 저자들은 OTC 결핍증 환자에서 CVVH 치료 및 패혈증과 당뇨를 경험하였고, 유전자 검사에서 이전에 보고된 바 없는 새로운 변이를 확인하였기에 증례를 보고하는 바이다. A urea cycle disorder is a condition caused by a defect of the enzymes in the urea cycle, and deficiency of ornithine transcarbamylase (OTC), which converts carbamoyl phosphate and ornithine into citrulline, is the most common type of the disorder. OTC deficiency induces the accumulation of precursors of urea, ammonia, and glutamine, leading to neurological symptoms including hypotonia, respiratory failure, seizure, lethargy, and coma and sometimes to death. Because OTC deficiency is inherited in an X-linked manner, typical symptoms such as vomiting, poor feeding, and lethargy appear mainly in male neonates. We recently had a case that presented with neonatal onset lethargy, vomiting, and apnea in a 4-day-old boy. He was diagnosed with OTC deficiency by biochemical phenotype, including hyperammonemia and an increased orotic acid level in the urine. Genetic analysis of the OTC gene showed a novel mutation c.780_781insCAGGCAGTGT (p.Ile261Glnfs*35). He was treated for hyperammonemia using continuous venovenous hemofiltration (CVVH) at 118 hours after birth. After 4 days of CVVH, his consciousness and blood ammonia concentration were normalized, and he was discharged at the age of 53 days. At around 12 months of age, bilateral femur fractures and osteomyelitis occurred in this patient. Two months after the fracture, he died of septic shock, insulin-resistant hyperglycemia, and multi-organ failure.

Endoscopic Biliary Drainage

송아리,정송아 대한췌담도학회 2012 대한췌담도학회지 Vol.17 No.1 (Suppl)

응급실 간호사가 경험하는 무례함, 직무스트레스, 회복탄력성이 이직의도에 미치는 영향

송아리,이종은 대한의료커뮤니케이션학회 2023 의료커뮤니케이션 Vol.18 No.2

Purpose : This study is descriptive research investigating the effects of incivility, job stress, and resilience experienced by emergency room nurses on turnover intention. The study will identify the degree of incivility experienced by emergency room nurses and provide data to improve and cope with the impolite situations in emergency room. Methods : Participants were 203 nurses in the emergency departments of 10 hospitals. The data were analyzed using the SPSS Statistics 24.0 program with descriptive statistics, independent t-test, one-way ANOVA, Scheffé test and Pearson’s correlation coefficients and stepwise multiple regression analysis. Results : Turnover intention had significant positive correlations with job stress and incivility from various sources including patients and their caregivers, doctors, supervisors, and coworkers. In contrast, turnover intention had a significant negative correlation with resilience. The most influencing factor for increasing turnover intention was nursing job dissatisfaction, followed by neutral job satisfaction, job stress, not wanting to work in the ER, unmarried marital status, and incivility from coworkers. The total explanatory power of these factors was 36.3%. Conclusion : This study indicates that the less incivility experience among the emergency room nurses is associated with less job stress and lower turnover intention. Therefore, nursing organizations must establish specific support strategies to reduce incivility and job stress experienced by emergency room nurses and minimize their turnover intention.

ERCP Accessories 관리

송아리 대한췌담도학회 2007 대한췌담도학회지 Vol.12 No.2

엑솜시퀀싱을 통해 생후 7개월에 진단된 헌터증후군

송아리,이진성,임민지,박형두,조성윤,진동규,Song, Ari,Lee, Jin Sung,Im, Minji,Park, Hyung Doo,Cho, Sung Yoon,Jin, Dong-Kyu 대한유전성대사질환학회 2018 대한유전성대사질환학회지 Vol.18 No.2

Hunter syndrome, also known as mucopolysaccharidosis Type II (MPS II), is one of the lysosomal storage diseases caused by a lack of the enzyme iduronate 2-sulfatase (I2S). Lack of the I2S enzyme activity leads to accumulation of the glycosaminoglycans (GAG), causing dysfunction of multiple organs and systems. MPS II is an X-linked recessive disease due to mutation of IDS gene located on long arm of the X chromosome (Xq28). To date, more than 350 mutations of IDS gene have been identified in Hunter syndrome. Phenotypes of MPS II are classified as either severe or attenuated depending on the degree of cognitive impairment. Because the phenotype of MPS II is related to the type of mutation, identifying mutations is useful in predicting prognosis. We recently had a case of MPS II diagnosed by exome sequencing in a 7 month old boy with infantile spasm uncontrolled by AED. He was diagnosed with hearing loss at 2 months of age, and he took vigabatrin and prednisolone to control infantile spasms diagnosed at 3 months of age. At 6 months of age, whole exome sequencing was performed to evaluate the infantile spasm and hearing loss in this patient, and the mutation c.851C>T (p.Pro284Leu) inherited from hemizygous mother was revealed. The results of urine Cetylpyridinium Chloride (CPC) precipitation test, which were negative until 8 months of age, were positive from 9 months of age. We report a case of MPS II diagnosed by exome sequencing and treated through enzyme replacement therapy from 9 months after birth. 헌터증후군이라고 불리는2형 뮤코다당증은 리소좀 축적 질환 중 하나로 이두로네이트 2-설파타제 효소의 기능 저하로 인해 여러 세포와 조직에 글리코사미노글리칸이 축적되어 여러 장기 기능에 부전을 초래하는 선천성 대사질환이다. 헌터증후군은 X 염색체의 장완(Xq28)에 위치하고 있는 IDS 유전자의 변이로 인하여 발생하며 최근까지 350개 이상의 변이가 보고되어 있다. 헌터증후군은 중추 신경계 증상 및 인지 기능 저하 정도에 따라 중증 표현형과 경증 표현형으로 나뉘는데, 표현형은 유전자 변이의 종류와 연관이 있기 때문에 변이를 아는 것은 추후 예후를 예측하는 데에 도움이 된다. 저자들은 최근 항경련제로 조절되지 않는 영아연축으로 내원한 7개월 남에서 엑솜 시퀀싱을 통하여 헌터 증후군을 진단하였다. 환아는 생후 2개월에 난청을 진단 받고 생후 3개월 경 영아연축으로 비가바트린, 프레드니솔론를 복용하였으나 영아연축이 호전되지 않았고, 이에 대한 검사로 시행한 엑솜시퀀싱 상 우연히 반접합체인 어머니로부터 유전된 c.851C>T (p.Pro284Leu) 변이가 발견되었다. 소변을 통한 뮤코다당증 선별 검사인 CPC 검사 결과는 생후 8개월까지 음성이었으나 생후 9개월에는 양성 결과를 보였고, 효소대체요법이 시작된 3개월 이후인 생후 12개월 째에는 다시 음성이 되었다. 생후 15개월인 현재까지 헌터증후군의 특징적인 얼굴 모습이나 간비비대, 관절 구축 등의 증상은 관찰되고 있지 않으며, 조절되지 않는 영아 연축으로 약물 치료를 지속하고 있다. 이를 통하여 환아의 신경학적 증상이 중증 헌터증후군의 임상 증상이 아닌 헌터증후군과 동반된 다른 질환에 의한 것으로 보인다. 저자들은 특징적인 증상이 나타나기 이전인 생후 7개월에 엑솜시퀀싱을 통하여 헌터증후군을 진단하였고 생후 9개월부터 효소대체요법을 시행하여 이에 대해 보고하는 바이다.

[P3-02] 활성 글루텐과 검을 첨가하여 제조한 쌀 베이커리 제품의 특성

장학길,박영서,이승환,김또,송아리나,홍수미,김선영 한국식품영양과학회 2008 한국식품영양과학회 학술대회발표집 Vol.2008 No.10

단일 기관에서 경험한 소아 아토피피부염 환자의 감작 분포

송아리 ( Ari Song ),이지영 ( Ji Young Lee ),양혜경 ( Hea-kyoung Yang ),김민지 ( Minji Kim ),안강모 ( Kangmo Ahn ),이상일 ( Sang-il Lee ),김지현 ( Jihyun Kim ) 대한천식알레르기학회(구 대한알레르기학회) 2016 Allergy Asthma & Respiratory Disease Vol.4 No.4

Purpose: There are few recent data regarding allergic sensitization of atopic dermatitis (AD) in Korea. The aim of this study was to investigate patterns of sensitization according to age and gender in children with AD.Methods: This retrospective study included 4,661 children with AD from 1998 to 2014. The serum specific IgE (sIgE) levels to egg white (EW), cow’s milk (CM), peanut, wheat, soybean, buckwheat, tree nuts, crustaceans, meat, and house dust mites (HDMs) were reviewed. AD was categorized into the extrinsic (ADe) and intrinsic type (ADi) according to the presence or absence of sensitization. The proportion of patients with sIgE to EW or CM greater than the previously reported diagnostic decision point (DDP) was determined.Results: A total of 4,661 children (2,843 boys and 1,818 girls) were collected. We identified 1,857 of 2,663 children (69.7%) with the ADe type and 806 of 2,663 children (30.3%) with the ADi type. The sensitization rates increased with age (P<0.001). EW (59.3%) was the most commonly sensitized food, followed by CM (46.6%), peanut (32.2%), wheat (31.5%), soybean (28.1%), and buckwheat (23.7%). The most commonly sensitized food groups were tree nuts (56.7%) and crustaceans (28.3%). The rate of sensitization to HDMs was 40.1%. In addition, 11.1% and 7.5% of children had levels of sIgE to EW and CM, respectively, higher than the DDP.Conclusion: The incidence of ADe among children with AD was 69.7% and increased with age. The most commonly sensitized food allergen was EW, followed by CM and peanut. (Allergy Asthma Respir Dis 2016:4:290-295)

얇은 다공 구조 박막에서의 두께에 따른 박막 저항 변화

송아리(Aree Song),김철성(Chul Sung Kim),고태준(Taejoon Kouh) 한국자기학회 2012 韓國磁氣學會誌 Vol.22 No.1

We have observed the change in the film resistance of thin nickel film up to 13 nm, which is deposited on a porous anodic alumina substrate, prepared by two-step anodization technique under phosphoric acid. The resulting film grows as a porous film, following the pore structure on the surface of the alumina substrate, and the value of the resistance lies above 150 kΩ within the range of thickness studied here, decreasing very slowly with the film thickness. The observed resistance value is much higher than the reported value of a uniform film at the same thickness. Since the observed value of the surface coverage with the pores is smaller than the critical value, expected from the percolation theory, the pore structure limits the formation of conduction channel across the film. In addition, by comparing to the typical model of thickness-dependent resistivity, we expect that the scattering at the pore edge further increases the film resistance.

신생아기 경련 및 의식저하를 주소로 내원한 Ornithine Transcarbamylase Deficiency 남아 1례

임민지,송아리,이수연,박형두,조성윤,진동규,Im, Minji,Song, Ari,Lee, Soo-Youn,Park, Hyung-Doo,Cho, Sung Yoon,Jin, Dong-kyu 대한유전성대사질환학회 2018 대한유전성대사질환학회지 Vol.18 No.2

OTC 결핍증은 요소 회로 대사 질환 중 가장 흔한 질환으로, X연관 유전을 하며, 고암모니아 혈증, 의식저하, 구토, 경련 등을 주증상으로 하여 나타난다. 본 증례에서는 경련 및 의식 저하로 발견된 고암모니아 혈증 및 저칼슘혈증에 대한 치료로 칼슘 보충 및 저단백섭취, sodium benzoate, phenylbutyrate sodium, L-arginine 복용 및 CRRT를 시행하여 증상을 경감시키고, 생화학적 검사 및 Targeted exome sequencing을 통하여 OTC 결핍증을 확진함으로서 신경학적 예후에 대비하도록 하였다. 이로서 현재까지 비교적 양호한 경과를 보이기에 이 증례를 보고하는 바이다. Orinithine transcarbamylase (OTC) deficiency is the most common inborn error of the urea cycle with resulting hyperammonemia, which is medical emergency in newborns.We recently had a case of a boy that presented with lethargy, seizure, hyperammonemia and hypocalcemia in neonatal period. He was diagnosed with OTC deficiency by two consequent ways which are initial biochemical phenotype including hyperammonemia and an increased orotic acid in his urine and genetic analysis of the OTC gene. The OTC gene showed a novel hemizygous mutation c.913C>T (p.Pro305Ser). He was treated by low protein intake, sodium benzoate, phenylbutyrate sodium, L-arginine, and continuous renal replacement therapy (CRRT). After discharge, he has a relatively good prognosis without notable developmental delay. For good prognosis, the duration of hyperammonemia should be shorten. And it can be reached by an early diagnosis. For early detection of OTC deficiency, targeted exome sequencing will be a important role as well as biochemical tests.