한국 소아 1형 당뇨병에서 종양괴사인자 및 림프독소-α 유전자 다형성

서진순,박소영,정민호,서병규,김태규,이병철,Suh, Jin Soon,Park, So Young,Jung, Min Ho,Suh, Byung Kyu,Kim, Tae Gyu,Lee, Byung Churl 대한소아청소년과학회 2005 Clinical and Experimental Pediatrics (CEP) Vol.48 No.8

목 적 : 한국 소아 1형 당뇨병에서 TNF promoter -857T/C와 -1031C/T 및 $LT-{\alpha}$ 유전자 다형성과 질병감수성과의 관련성을 평가하고자 하였다. 방 법 : 1형 당뇨병으로 진단 받은 소아 49명(여아 29명, 남아 20명)과 정상 대조군 94명의 혈액을 채취하여 DNA를 추출하였다. 추출한 DNA에 대하여 allele-specific PCR법을 이용하여 TNF promotor -1031C/T 다형성을, PCR-RFLP법을 이용하여 TNF promotor -857T/C, $LT-{\alpha}$ 유전자 다형성을 분석하였다. 결 과 : 환자군과 대조군 사이에서 TNF promoter -857T/C, -1031C/T 다형성의 분포는 차이가 없었다. 환자들의 임상적 특징에 따라 아군(subgroup)으로 분류하였을 때, 진단 시 당뇨병성 케톤산혈증으로 발현한 환자들에서 TNF promoter -1031C/T 다형성의 TT 유전자형의 빈도가 당뇨병성 케톤산혈증으로 발현하지 않은 환자들과 비교하여 유의하게 낮았다(P<0.05). 다른 임상적 특성들과 이들 유전자 다형성 사이에는 관련성이 없었다. 또 환자와 대조군 사이에 $LT-{\alpha}$ 유전자 다형성의 분포는 차이가 없었으며, 임상적 특성과의 관련성도 없었다. 결 론 : 이 연구를 통하여 TNF promoter -857T/C, $LT-{\alpha}$ 유전자 다형성이 한국 소아에서 1형 당뇨병의 질병감수성과 관련이 없음을 알 수 있었다. 그러나 TNF promoter -1031C/T 다형성은 당뇨병성 케톤산혈증과 같은 1형 당뇨병의 특정 임상양상에 영향을 미칠 수 있는 유전적 인자로 생각된다. Purpose : Recently, it was reported that tumor necrosis factor(TNF) and $lymphotoxin-{\alpha}$($LT-{\alpha}$) gene regions might be a susceptible loci to type 1 diabetes in Japanese. The purpose of this study was to investigate the association of TNF and $LT-{\alpha}$ gene polymorphisms with disease susceptibility in Korean children with type 1 diabetes. Methods : Forty-nine Korean children with type 1 diabetes(29 girls and 20 boys) and 94 healthy Koreans were investigated in this study. Genotyping for -857T/C polymorphism in the TNF promoter region and $LT-{\alpha}$ gene polymorphism were performed by PCR-RFLP(restriction fragment length polymorphism). TNF promoter -1031C/T polymorphism was detected by allele-specific PCR. Results : The distribution of the -857T/C and -1031C/T genotype in the TNF promoter region was not different between diabetic children and the controls. The frequency of TT genotype in the distribution of TNF -1031C/T polymorphism in diabetic children with diabetic ketoacidosis(DKA) at diagnosis was significantly lower than those without DKA(P<0.05). No significant difference in the distribution of $LT-{\alpha}$ gene polymorphism was observed between diabetic children and the controls. There was no association between clinical characteristics of type 1 diabetes and $LT-{\alpha}$ gene polymorphisms. Conclusion : These results suggest that TNF promoter -857T/C and $LT-{\alpha}$ gene polymorphisms are not associated with susceptibility to type 1 diabetes in Korean children. TNF promoter -1031C/T polymorphism might be related to clinical manifestations(DKA) of type 1 diabetes.

아토피피부염 환자의 개인별 증상 기록에 대한 순응도 연구

서진순,김영은,김안나,김익태,손윤희,장현철 대한예방한의학회 2020 대한예방한의학회지 Vol.24 No.2

Objectives : The purpose of this study is to evaluate clinical utilization by measuring compliance with the use of mobile health applications (AtopyPHR developed in a previous study) for patients with atopic dermatitis. Methods : Based on the AtopyPHR and the input period and frequency survey results for each symptom item, a scenario for measuring compliance was derived. The study period was 4 weeks. Participants installed AtopyPHR app and Telegram app on their smartphones, conducted user training on the app, and recorded symptoms using the app for 4 weeks. At the 2nd and 4th week visits, the AtopyPHR data recorded by the user can be viewed on the web page and used for medical decision. Compliance was analyzed by the date the symptoms were recorded. Results : There were 28 participants, all (100%) were compliant, and the compliance was 96.8. The patients were 1 to 18 years old, and the average age was 8.2±5.7 years, 10 males and 18 females. The actual date of participation in recording symptoms was 28.6±0.56 on average. Compared to Week 1, compliance decreased at Week 2, and Week 4 had the highest compliance. Daily check, daily emotion, stool/urine/sleep, and meal management showed high compliance, SCORAD and quality of life were higher than required to record. Conclusions : AtopyPHR was effective in compliance. The results of this study could be used to collect personal health data in daily life through the AtopyPHR, improving participant compliance. It is considered to be meaningful because it measured the compliance with the symptom record actually recorded using the mobile app rather than a questionnaire. This study may be useful not only for personal health care but also for medical decisions, as opinions are given by experts who treat atopic dermatitis.

Diagnosis and Management of Chronic Kidney Disease- Mineral Bone Disease in Children

서진순 대한소아신장학회 2020 Childhood kidney diseases Vol.24 No.1

Chronic kidney disease–mineral bone disorder (CKD–MBD) is a systemic disorder of mineral and bone metabolism caused by CKD. Patients with early-stage CKD who present with disordered regulation of bone and mineral metabolism may be asymptomatic. However, if untreated, the condition can be a significant barrier in achieving optimal bone strength, linear growth, and cardiovascular health in pediatric patients with CKD. Thus, the current study evaluated the definition, pathogenesis, diagnosis, and management of pediatric CKD-MBD.

개인생성건강데이터를 활용한 산후관리 보고서 서비스 개발에 대한 연구

서진순,김안나,김영은,장현철 한약정보연구회 2023 한약정보연구회지 Vol.11 No.2

This study aimed to develop report services for postpartum management using person-generated health data (PGHD). We analyzed the structure and visualized-results of the postpartum report and derived new symptom items for postpartum PGHD. The postpartum report is structured into five categories: daily records, postpartum recovery condition 1, postpartum recovery condition 2, postpartum symptom record check, and daily emotions. Based on the report's composition and visualized results, we organized the list of symptoms collected in the postpartum section of the Korean Medicine Personal Health Record (KM PHR). This organization was done according to PGHD items, categorized by category and item-specific scoring formulas. The postpartum report is displayed as the first screen after logged into the KM PHR. Through this report, healthcare providers can quickly assess various postpartum conditions during KM consultations, offering a comprehensive view of the patient's symptoms. Monitoring postpartum health is crucial for both mothers and newborns. Utilizing the postpartum report allows for comprehensive monitoring of users' postpartum health management information, enhancing healthcare management's effectiveness. Healthcare professionals can also use the analysis of indicators as reference data for diagnosis and prescription decisions.

아토피피부염 개인건강기록 앱 개발에 관한 연구

서진순,김영은,이승호,김안나,남보령,장현철 대한한방안이비인후피부과학회 2019 한방안이비인후피부과학회지 Vol.32 No.1

Objective : The purpose of this study is to develop a personal health record(PHR) application of atopic dermatitis in Korean Medicine(KM). Methods : We have identified the items necessary to provide an PHR application that helps to record and manage the symptoms of an atopic dermatitis in KM. We also derived the symptom collection process and method and applied it to the application. Results : In this study, the types of symptoms collected for atopic dermatitis were derived. Symptoms include daily check, stool/urine/sleep, daily emotion, meal management, symptom photographs, SCORAD, quality of life, progress check, original symptom, pediatric health check, weakness check, and subjective symptoms. The recording cycle can be divided into the first, daily, weekly, specific day, and subjective. We developed the PHR application of atopic dermatitis in KM by deriving the type of symptoms and symptom recording process. The app organized menus into dashboards, checklists, daily checks, and health records. Conclusions : We developed a PHR application for atopic dermatitis by deriving symptom collection items of atopic dermatitis and developing symptom collection process and collection technique. The app does not make an accurate diagnosis of atopic dermatitis symptoms, but it helps facilitate symptom collection and helps to identify or predict a person's health condition. It can also be used for medical treatment through sharing symptoms with Korean medicine. Patients are able to communicate in both directions on a daily, weekly, self-aware basis, at the request of a doctor, to record their symptoms and use them for medical purposes. If the doctor asks for a progress check to refer to the next examination, it can be written through the system. This manages atopic dermatitis in daily life and can be used in the clinical field.

한의학 표준용어집 서비스와 향후 발전 방향

서진순(Jinsoon Seo),김상균(Sang-Kyun Kim),김안나(Anna Kim),장현철(Hyunchul Jang) 한국콘텐츠학회 2015 한국콘텐츠학회논문지 Vol.15 No.11

한의학 분야에서는 오랜 기간 동안 한의학 용어가 혼재되어 사용되어 왔다. 대한한의학회에서는 우리나라에서 사용되고 있는 한의학 용어를 체계적으로 정리하고 표준화하여 표준한의학용어집을 발간하였다. 본 연구에서는 표준한의학용어집의 콘텐츠를 바탕으로 표준한의학용어집 온라인 서비스를 구축하였다. 표준한의학용어집 온라인 서비스는 표준 한의학 용어와 해설을 찾아보고 용어의 해설에 대한 의견을 모아서 반영할 수 있는 시스템이다. 표준용어와 시맨틱 검색 결과와 네이버 지식백과 검색 결과를 한 화면에서 볼 수 있어 한의학 표준용어를 다양하게 비교하고 참조할 수 있도록 하였다. 또한 로그를 분석하여 검색기능 개선, 홍보 활용, Open API 제공 등 향후 발전 방향을 제시하였다. 로그를 통해 일관된 방문자와 수요가 존재함을 알 수 있었으며, 올해 6월을 기점으로 검색 건수가 점점 상승하고 있는 것을 알 수 있었다. 향후 표준화된 한의학 용어는 국내 학술연구, 한의 임상은 물론 한의학 국제 표준화에도 중요한 근거가 될 것으로 기대된다. In the field of Korean medicine (KM), KM terms has been mixed used for a long period. After the Society of KM had systematically organized the KM terms used in our country, the book for the Korean medical standard terminologies was published. In this study, we developed an online service based on the book. The online service provides various useful functions for searching the terms and their commentary and collecting users’ opinions. Users can also compare the standard terms with their semantic search results and naver’s knowledge search results within our system. By analyzing logs of our system, we suggested several directions for future development, including the improvement of search functions, advertisements, and the provision of open APIs. In the future, our online service might provide the important information on clinics, academic researches, and international standards.

한의 개인건강기록 플랫폼 구축에 관한 연구

서진순(Jin Soon Seo),김안나(An Na Kim),김상현(Sang Hyun Kim),이승호(Seung Ho Lee),남보령(Bo Ryeong Nam),이명구(Myung Ku Lee),장현철(Hyun Chul Jang) 한의병리학회 2016 동의생리병리학회지 Vol.30 No.6

온톨로지를 활용한 웹 기반 한의 진료 지원 시스템

서진순(Jin Soon Seo),김상균(Sang Kyun Kim),오용택(Yong Taek Oh),김안나(An Na Kim),장현철(Hyun Chul Jang) 한의병리학회 2014 동의생리병리학회지 Vol.28 No.1

일상 증상 기록과 활용 방안 연구

서진순(Jin Soon Seo),김안나(An Na Kim),김상균(Sang Kyun Kim),장현철(Hyun Chul Jang) 한의병리학회 2015 동의생리병리학회지 Vol.29 No.5

A Single Nucleotide Deletion resulting in Frameshift in Two Korean Neonates with Thyroxine-Binding Globulin Deficiency

박상준,서진순,정민호,이희진,서병규,이원배,이병철 대한소아청소년과학회 2005 Clinical and Experimental Pediatrics (CEP) Vol.48 No.11

Abnormalities in the levels of thyroxine-binding globulin (TBG) are not associated with clinical disease and they do not require treatment. Congenital TBG deficiency is inherited in an X-linked manner. To date, some complete and partial TBG variants and one polymorphism have been identified by analysis of the TBG gene. Two male neonates were referred to us because of their low T4 levels that were noted on the neonatal screening test. They showed normal levels of free T4 and TSH. Their serum TBG was not detectable and those values of their parents were within the normal ranges. The genomic DNA was extracted from their white blood cells and the four coding exons of the TBG gene were amplified by using polymerase chain reaction. Sequencing of the four coding regions and all the intron/exon junctions revealed a single nucleotide deletion of the first base of the codon 352 of the mature protein in both of the neonates. This mutation resulted in a frameshift and a premature stop codon (TGA) 374. Their mothers were shown to be heterozygotes. We detected a single nucleotide deletion resulting in a frameshift in two male Korean neonates who had complete TBG deficiency. 단일 뉴클레오타이드 결손으로 인한Frameshift 돌연변이로 규명된티록신결합글로불린 결핍증 1례가톨릭대학교 의과대학 소아과학교실박상준·서진순·정민호·이희진서병규·이원배·이병철TBG 결핍증은 X 염색체 장완의 TBG 유전자의 돌연변이에 의해서 발생하며, 낮은 총 T4와 총 T3, 정상 유리 T4와 유리 T3, 정상 TSH 농도를 특징으로 한다. 혈청 티록신글로불린 농도에 따라 완전 TBG 결핍증과 부분 TBG 결핍증으로 나눌 수 있으며, 적절하게 진단하지 못하면 불필요한 검사나 치료의 요인이 될 수 있다. 저자들의 완전 TBG 결핍증으로 진단된 2명의 남아에 대하여 TBG 유전자 분석을 시행하였다. 대상아들은 신생아 선별검사에서 측정된 낮은 총 T4 농도 때문에 내원하였다. 진찰 소견은 정상이었으며, 갑상선 기능 검사 상 유리 T4, TSH 농도는 정상이었다. 방사면역측정법에 의한 혈청 TBG는 측정되지 않았다. 중합효소연쇄반응을 이용하여 4개의 TBG 유전자 엑손을 증폭한 후 자동염기서열분석을 시행하였다. 두 대상아에서 모두 엑손 4의 352번째 codon의 첫 번째 단일 뉴클레오티드 C의 결손에 의한 frameshift 돌연변이로 374번째 codon에 termination codon이 나타난 것을 확인하였다. 대상아의 어머니들에게서는 돌연변이 대립유전자와 정상 대립유전자의 이형접합체를 확인하였다. 한국인 TBG 결핍증의 역학과 유전적 특성을 규명하기 위한 더 광범위한 연구가 필요할 것으로 생각된다.