신경인성 방광의 치료에서 요도부목 설치의성공례와 실패례 -증례 보고-

임선희,나은우,이일영,문혜원,임신영,정도영 大韓再活醫學會 2000 Annals of Rehabilitation Medicine Vol.24 No.1

의학교육에서 가톨릭 정신의 구현 : 가톨릭대학교 의과대학 옴니버스 교육과정을 중심으로

김평만, 임선희, 오승민 가톨릭대학교 인간학연구소 2011 인간연구 Vol.0 No.21

반정량 식품섭취빈도조사지를 이용한 한국노인의 영양섭취 실태조사

이해정,박선주,김정희,김초일,장경자,임경숙,김경원,최혜미 대한지역사회영양학회 2003 대한지역사회영양학회지 Vol.8 No.3

The aim of this study was to assess the nutrient intakes of the elderly subjects in Korea. Dietary assessment was carried out using a semi-quantitative food frequency questionnaire (SQFFQ) developed by our laboratory, which included 98 commonly consumed food items selected from 1998 National Health and Nutritional Survey for Korean population. Subjects (n = 2,660) aged 50yr and over were recruited in Seoul, 6 metropolitan cities, and 8 mid-size cities. Calcium and riboflavin intakes of the elderly subjects aged 65 yr and over (n = 1,974) were much lower compared with Korean RDA. Nutrient intakes of the three age group (50 - 64 yr, 65 - 74 yr, 75 yr and over) were decreased as age increased in male and female elderly. Nutrient intakes of male elderly, 75 yr and over, were significantly decreased while in female elderly nutrient intakes were gradually decreased as age increased. Over 30% of the elderly subjects did not meet 75% RDA for calcium, iron, vitamin A, and riboflavin. The proportion of the elderly subjects whose intakes were below 75% RDA was much higher than the elderly whose intakes were above 125% RDA, especially among the elderly aged 75 yr and over. This study revealed that the Korean elderly had inadequate intakes for many nutrients. This will cause a serious nutritional problem for the elderly.

Introduction to International Ethical Standards Related to Genetics and Genomics

Yim, Seon-Hee,Chung, Yeun-Jun Korea Genome Organization 2013 Genomics & informatics Vol.11 No.4

The rapid advances in genetic knowledge and technology raise various, sometimes unprecedented, ethical dilemmas in the scientific community as well as the public realm. To deal with these dilemmas, the international community has prepared and issued ethical standards in various formats. In this review, seven international standards regarding genetics and genomics will be briefly introduced in chronological order. Critical reflections on them will not be provided in this review, and naturally, they have their own problems and shortcomings. However, a common set of the principles expressed in them will be highlighted here, because they are still relevant, and many of them will be more relevant in the future. Some of the interesting contents will be selected and described. After that, the morality of one recent event related to whole-genome sequencing and person-identifiable genetic data will be explored based on those international standards.

Is Metabolic Syndrome One of the Risk Factors for Gallbladder Polyps Found by Ultrasonography during Health Screening?

( Seon Hee Lim ),( Dong Hee Kim ),( Min Jung Park ),( Young Sun Kim ),( Chung Hyun Kim ),( Jung Yun Yim ),( Kyung Ran Cho ),( Sun Sin Kim ),( Seung Ho Choi ),( Nayoung Kim ),( Sang Heon Cho ),( Byung 대한소화기기능성질환·운동학회 2007 Gut and Liver Vol.1 No.2

Background/Aims: We conducted this study to identify the risk factors for finding gallbladder polyps (GBP) in Korean subjects during health screening, and to determine the nature of the association between the presence of metabolic syndrome (MS) and the development of GBP. Methods: A total of 1,523 subjects were enrolled, comprising 264 with GBP (81 women and 183 men) and 1,259 controls (696 women and 563 men with normal GB). Body mass index (BMI), waist circumference (WC), blood pressure (BP), insulin, fasting blood sugar (FBS), lipids, liver enzymes, hepatitis B antigens (HBs Ag), and hepatitis C antibodies (HCV Ab) were measured. MS was considered to be present when three or more of the NCEP-ATPIII (National Cholesterol Education Program-Adult Treatment Panel III) criteria were satisfied. Insulin resistance was calculated by homeostasis model assessment of insulin resistance (HOMA-IR). Independent risk factors were analyzed by logistic regression analysis. Results: Univariate analysis revealed that the risk factors for GBP were age, sex, WC, smoking history, BP, BMI, FBS, serum lipids, HOMA-IR score, and MS. Multivariate logistic regression analysis revealed that the risk factors for GBP were presence of MS (Odds Ratio (OR)=2.35, 95%Confidence Interval (CI)=1.53-3.60), being male (OR=2.34, 95%CI=1.72-3.18), HOMA-IR score>2.5 (OR=1.64, 95%CI=1.19-2.26), and higher WC (OR=1.4, 95%CI=1.05-1.88). MS was present in 20.8% and 5.9% of GBP patients and controls, respectively, and was the highest risk factor for GBP. Conclusions: MS, male, insulin resistance, and abdominal obesity are probably risk factors for GBP, with MS appearing to be strongly associated with GBP in Koreans. (Gut and Liver 2007;1:138-144)

Current Status and Future Clinical Applications of Array-based Comparative Genomic Hybridization

Yim, Seon-Hee,Chung, Yeun-Jun Korea Genome Organization 2004 Genomics & informatics Vol.2 No.3

The potential role of <i>VPREB1</i> gene copy number variation in susceptibility to rheumatoid arthritis

Yim, Seon-Hee,Chung, Yeun-Jun,Jin, Eun-Heui,Shim, Seung-Cheol,Kim, Ji-Young,Kim, Yong-Shin,Hu, Hae-Jin,Shin, Seung-Hun,Pae, Hyun-Ock,Zouali, Moncef,Chung, Hun-Tag Elsevier 2011 Molecular immunology Vol.48 No.11

<P><B>Abstract</B></P><P>Although the etiology of rheumatoid arthritis (RA) remains unknown, it has been widely suggested that RA has a genetic background. In humans, a copy number loss of 22q11.2, a region harboring the <I>VPREB1</I> gene, has been suggested to be associated with several immunologic disorders, but there has been no study on the copy number variation (CNV) of the <I>VPREB1</I> and its potential association with RA. Here, we explored the association between the RA and the CNV of the <I>VPREB1</I> gene by performing genomic quantitative PCR and quantification of B cell subsets in RA patients and controls. The proportion of the individuals with <2 copies of the <I>VPREB1</I> gene was significantly higher in the patient group than that in the controls (12.9% <I>vs</I> 0.9%, <I>p</I><0.0001), while that of the individuals with >2 copies was lower in the patient group than that in the controls (1.7% <I>vs</I> 18.9%, <I>p</I><0.0001). The odds ratio (OR) of the individuals with <2 copies was significantly higher compared with the odds ratio of those individuals with 2 copies (OR=12.1, 95% confidence interval (CI) 2.8–51.6). Likewise, the OR of the individuals with >2 copies was significantly lower than the OR of those individuals with 2 copies (OR=0.09, 95% CI 0.03–0.3). We also found that the proportion of CD21<SUP>−</SUP>CD23<SUP>−</SUP> B cells was significantly higher in the RA patients compared with that of the controls (11.9% <I>vs</I> 5.7%, <I>p</I>=0.002), but the proportion of CD21<SUP>+</SUP>CD23<SUP>+</SUP> cells was significantly lower in the RA patients (26.2% in RA <I>vs</I> 34.9% in the controls, <I>p</I>=0.005). To the best of our knowledge, this is the first evidence showing the association between a low copy number of the <I>VPREB1</I> gene and RA, and this may help understanding the pathogenesis of RA and other autoimmune disorders.</P>

Reflections on the US FDA's Warning on Direct-to-Consumer Genetic Testing

Yim, Seon-Hee,Chung, Yeun-Jun Korea Genome Organization 2014 Genomics & informatics Vol.12 No.4

In November 2013, the US Food and Drug Administration (FDA) sent a warning letter to 23andMe, Inc. and ordered the company to discontinue marketing of the 23andMe Personal Genome Service (PGS) until it receives FDA marketing authorization for the device. The FDA considers the PGS as an unclassified medical device, which requires premarket approval or de novo classification. Opponents of the FDA's action expressed their concerns, saying that the FDA is overcautious and paternalistic, which violates consumers' rights and might stifle the consumer genomics field itself, and insisted that the agency should not restrict direct-to-consumer (DTC) genomic testing without empirical evidence of harm. Proponents support the agency's action as protection of consumers from potentially invalid and almost useless information. This action was also significant, since it reflected the FDA's attitude towards medical application of next-generation sequencing techniques. In this review, we followed up on the FDA-23andMe incident and evaluated the problems and prospects for DTC genetic testing.

One Korean Patient with a Family History of BRCA1-associated Ovarian Cancer

Yim, Seon-Hee,Lee, Keun-Ho,Lee, Ah-Won,Jung, Eun-Sun,Choi, Yeong-Jin Korean Society of Medical Genetics 2009 대한의학유전학회지 Vol.6 No.2

BRCA1과 BRCA2 유전자 돌연변이는 상염색체 우성양상으로 유전되면서 유방암과 난소암 발생위험을 높이는 것으로 알려져 있다. BRCA1 유전자 돌연변이를 가진 사람은 70세까지 난소암이 발생할 평균 누적위험도가 39% 가량 되고, BRCA2의 경우는 11% 가량된다. 이외에도 린치 신드롬이라고도 불리는 유전성 비용종성 대장암의 경우에도 난소암의 위험도가 높아지는 것으로 알려져 있으나, 유전성 난소암의 90% 정도는 BRCA 유전자 돌연변이에 기인하는 것으로 생각된다. 본 증례는 난소암 및 다른 암의 가족력을 보이면서 난소암으로 진단된 한국 여성의 사례로 본인과 두 딸 중 한명에서 BRCA1 유전자 돌연변이가 발견된 경우로, 가족력과 유전자 검사에 근거한 유전성 난소암 고위험군의 식별과 관리의 중요성을 시사한다. Germline mutations in BRCA1 and BRCA2 confer high risks of breast and ovarian cancer. Among BRCA1- and BRCA2- mutation carriers, the average cumulative risks for ovarian cancer by age 70 years were 39% and 11%, respectively. There are other hereditary cancer syndromes such as Hereditary nonpolyposis colorectal cancer also confer a higher risk for developing ovarian cancer, but over 90% of all hereditary ovarian cancers are thought to be associated with BRCA1 or BRCA2 mutations. This report concerns a Korean woman diagnosed with ovarian cancer present with a family history of ovarian and various other cancers, in whom a germline BRCA1 mutation was identified and the same mutation was found in one of two daughters of her's. Since there could be more hereditary ovarian cancer patients in Korean than clinicians thought, both primary and secondary prevention of ovarian cancer based on family history and genetic information is important to reduce cancer incidence and mortality.

Copy number variations in East-Asian population and their evolutionary and functional implications

Yim, Seon-Hee,Kim, Tae-Min,Hu, Hae-Jin,Kim, Ji-Hong,Kim, Bong-Jo,Lee, Jong-Young,Han, Bok-Ghee,Shin, Seung-Hun,Jung, Seung-Hyun,Chung, Yeun-Jun Oxford University Press 2010 Human Molecular Genetics Vol.19 No.6

<P>Recent discovery of the copy number variation (CNV) in normal individuals has widened our understanding of genomic variation. However, most of the reported CNVs have been identified in Caucasians, which may not be directly applicable to people of different ethnicities. To profile CNV in East-Asian population, we screened CNVs in 3578 healthy, unrelated Korean individuals, using the Affymetrix Genome-Wide Human SNP array 5.0. We identified 144 207 CNVs using a pooled data set of 100 randomly chosen Korean females as a reference. The average number of CNVs per genome was 40.3, which is higher than that of CNVs previously reported using lower resolution platforms. The median size of CNVs was 18.9 kb (range 0.2–5406 kb). Copy number losses were 4.7 times more frequent than copy number gains. CNV regions (CNVRs) were defined by merging overlapping CNVs identified in two or more samples. In total, 4003 CNVRs were defined encompassing 241.9 Mb accounting for ∼8% of the human genome. A total of 2077 CNVRs (51.9%) were potentially novel. Known CNVRs were larger and more frequent than novel CNVRs. Sixteen percent of the CNVRs were observed in ≥1% of study subjects and 24% overlapped with the OMIM genes. A total of 476 (11.9%) CNVRs were associated with segmental duplications. CNVS/CNVRs identified in this study will be valuable resources for studying human genome diversity and its association with disease.</P>