CYP21 유전자의 복잡한 이형접합체 변이에 의한 단순 남성형 선천성 부신 과증식 2예

김군순,최윤선,배연선,나소영,조영석,송민호 대한내분비학회 2007 Endocrinology and metabolism Vol.22 No.4

Steroid 21-hydroxylase deficiency is the most frequent cause of congenital adrenal hyperplasia (CAH), which is an inherited inability to synthesize cortisol. Actually, CAH is caused by mutations in the CYP21 gene encoding the steroid 21-hydroxylase enzyme. In some cases, discordance has been observed between the genotype and the phenotype. We recently experienced two cases of simple virilizing congenital adrenal hyperplasia with compound heterozygous mutations of the CYP21 gene. The patients had primary amenorrhea and showed virilization. We have described these two cases along with a review of the literature. 저자들은 원발성 무월경, 다모증, 저신장, 남성의 외모를 보이는 2명의 환자에서 내분비 호르몬 검사, 방사선검사 소견, 유전자 검사 등을 통하여 전형적인 단순 남성형 선천성 부신 과증식으로 확진을 하였다. 각각의 환자에서 CYP21 유전자의 점돌연변이 I172N을 포함하는 두 군데 이상의 복잡한 이형접합체 돌연변이의 유전형 2례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

제2형 당뇨병에서 Rosiglitazone과 Sulfonylurea 병합요법의 혈당 개선 효과의 후향적 연구

김군순,나소영,이효진,홍우정,조영석,구본정,송민호,노흥규,김영건 대한당뇨병학회 2002 임상당뇨병 Vol.3 No.4

연구배경: 혈당조절이 잘 되지 않는 제2형 당뇨병 환자에게 설폰요소제와 rosiglitazone의 병합요법을 하였을 때의 혈당 개선 효과와 이에 영향을 미치는 인자에 대해서 평가하고자 하였다. 방법: 식사요법, 운동요법, 약물요법에도 혈당조절이 악화된 총 52명의 제2형 당뇨병 환자들을 대상으로 후향적으로 연구하였고, 설폰요소제와 최소 6개월이상 Rosiglitazone (4 mg/day)을 병용투여하였다. 치료 전 및 치료 6개월 후에 당화 혈색소, 공복시 혈당, 식후 2시간 혈당의 변화를 측정하여 치료 효과를 판정하였다. 치료 효과에 영향을 미치는 인자들은 체질량지수, 당뇨병의 유병기간, c-peptide, 나이 등으로 정의하였다. 결과: Rosiglitazone과 설폰요소제의 병합 요법으로 평균 당화 혈색소는 치료전보다 1.5% (p<0.05)의 감소가 있었다. 또한 반응군과 비 반응군에서 각각 체질량지수, 당뇨병의 유병기간, c-peptide, 나이 등의 인자에 따른 당화 혈색소의 감소치를 비교하였을 때 통계학적으로 유의한 차이는 없었다. 결론: 혈당 조절이 잘 되지 않는 제2형 당뇨병환자에게 설폰요소제와 Rosiglitazone 4 mg/day의 병합 요법을 시행했을 때 유의한 혈당 강하 효과가 있었다. Background: This study was designed to evaluate the blood glucose lowering effects of rosiglitazone combination therapy with sulfonylurea in poor glycaemic controlled, type 2 diabetes. The factors affecting the response to rosiglitazone combination therapy with sulfonylurea were also evaluated on the basis of the degree of glycaemic control. Method: The 52 patients with type 2 diabetes who participated in this retrospective study had poor glycaemic control in spite of proper diet (30 kcal/kg), exercise (1hour walking/day) or antidiabetic medications; FBS ≥140 mg/dL, PP2 ≥ 200 mg/dL or HbA1C ≥8%. They received rosiglitazone 4 mg once daily with sulfonylurea for 6 months or more. We evaluated the change of hemoglobin A1c (HbA1C), fasting blood glucose, and post prandial blood sugar level, relative to baseline levels. The factors affecting response of rosiglitazone combination therapy with sulfonylurea were defined as body mass index (BMI), duration of diabetes, c-peptide and age. The patients with a decrement of HbA1C level more than 1% were defined as responders. Results: Rosiglitazone combination therapy with sulfonylurea significantly improved glycaemic control. The mean HbA1C reduction from the baseline was 1.5%. The factors (BMI, duration of diabetes, c-peptide and age) between non-responder and responder in HbA1c reduction were not statistically different. Conclusion: Rosiglitazone (4 mg/day) combination therapy with sulfonylurea resulted in a significant improvement in glycaemic control with type 2 diabetic patients who had poor glycaemic control.

L1 세포부착물질과 암의 증식, 이동, 침윤

김군순 대한갑상선학회 2013 International Journal of Thyroidology Vol.6 No.2

L1 cell adhesion molecule (L1CAM) is a 220-kDa type I membrane glycoprotein and is normally expressed in neuronal cells, endothelial cells, and renal epithelial cells. Recent clinical studies demonstrated aberrant L1CAM expression in various cancers, especially at the invasive area of cancers. L1CAM has a key role in tumorigenesis, tumor invasion, and it is associated with a poor prognosis of cancer. Anaplastic thyroid carcinoma (ATC) has a highly poor outcome and it is resistant to conventional treatment. In this review, I discuss the biological role of L1CAM in proliferation, migration, and invasion in the ATC.

갑상선암의 표적치료

김군순 생화학분자생물학회(구 한국생화학분자생물학회) 2012 생화학분자생물학회 소식 Vol.32 No.2

특성 벡터를 이용한 얼굴 인증 시스템에서 변환된 생체 정보 데이터의 가역성에 대한 보안 문제 분석

김군순(KoonSoon Kim),강전일(Jeonil Kang),양대헌(DaeHun Nyang),이경희(KyungHee Lee) 한국정보보호학회 2008 정보보호학회논문지 Vol.18 No.3

생체 정보 인식은 사용자의 인증을 위한 수단으로써 많은 연구가 진행 되어 오고 있다. 그 중 얼굴 인식 분야에서 특성 벡터를 이용한 사용자의 얼굴 인식 기법이 존재한다. 이 기법은 전체 얼굴 데이터 집합에서 벡터 공간을 만들어 내고 생체 정보 템플릿을 사상시켜 추상화된 데이터를 생성하는 기법이다. 그러나 생체 정보의 보안성을 일컫는 개념인 취소 가능한 특성(Cancelable Feature)을 기대 할 수 는 없다. 이 논문에서는 특성 벡터를 이용한 얼굴 인증 시스템에서 변환된 생체정보 데이터의 복원에 대한 보안 문제를 지적하고, 예상 가능한 공격 시나리오를 실험을 통해 보인다. The biometrics has been researched as a means for authenticating user’s identity. Among the biometrics schemes for face recognition, the eigenvector-based schemes, which use eigenvector made from training data for transforming test data to abstracted data, are widely adopted. From those schemes, however, it is hard to expect cancelable feature, which is a general concept for security in the biometrics. In this paper, we point out the security problem that is the recovery of valuable face information from the abstracted face data and consider a possible attack scenario by showing our experiment results.

취소 가능한 얼굴 인식을 지원하는 치환 변환 기법에 대한 고찰

김군순(KoonSoon Kim),강전일(Jeonil Kang),양대헌(DaeHun Nyang),이경희(KyungHee Lee) 한국정보보호학회 2006 정보보호학회논문지 Vol.16 No.6

생체 정보를 사용하는 시스템에 암호학적 단방향 함수를 직접적으로 적용하는 것은 어려운 것으로 알려져 있다. 이러한 문제를 해결하기 위한 한 가지 방법으로써, 치환 변환 기법이 존재한다. 그러나 그 기법에서는 실험을 통한 구체적인 알고 리즘이나 변환 기법에 따른 성능 분석을 직접 보여주지 않았다. 이 논문에서는 변환 기법의 인식률을 실험을 통하여 보여줌으로써 기법이 올바르게 동작한다는 사실을 보인다. 또한 실험 결과를 보여주는데 있어서 LDA에 치환 변환 기법을 적용하였다. 반대로 우리는 또한 치환 변환 기법에 반하는 새로운 공격에 대해서 소개하고, 마지막으로 이 문제를 해결할 수 있는 치환 변환 기법의 일반화를 간략히 소개한다. It is known to be hard to apply cryptographic one-way functions to the recognition system using bio-information directly. As one of the solutions about that problem, there is a permutation transformation scheme. However, they did not show any algorithmic behavior or any performance analysis of the transformation by experiment. In this paper, by showing the recognition ratio of the transformed scheme by experiment, we prove that that scheme is sound. Also, we adopt their transformation to LDA(Linear Discriminant Analysis) to show the experimental results. In the negative side, we introduce a new type of attack against the permutation transformation schemes. Finally, we briefly mention a generalization of the permutation transformation for countermeasure of the attack at the end of this paper.

고혈압 환자에서 당뇨병 유무에 따른 원발성 알도스테론증의 유병률 비교

장이선,김군순,김혜수 대한내분비학회 2009 Endocrinology and metabolism Vol.24 No.4

Background: Primary aldosteronism is the most common cause of secondary hypertension in humans. Its prevalence is estimated to be 10-15% among hypertensive patients. It is also associated with insulin resistance and diabetes mellitus. The aim of our study was to compare the prevalence of primary aldosteronism in hypertensive patients with presence of diabetes mellitus. Methods: We reviewed retrospectively the clinical records of 104 hypertensive patients for whom we also measured plasma renin activity (PRA) and plasma aldosterone concentrations (PAC). Results: Among 104 hypertensive patients, 44 had diabetes and 60 did not. There were no significant differences in clinical characteristics between non-diabetic and diabetic patients except for age and the number of antihypertensive agents. Patients with target organ damage were more common among diabetic patients. There was no correlation between PAC and the number of target organs damaged. In addition, Four patients from the non-diabetic and two from the diabetic group had a ratio over 30 for PRA/PAC and a PAC of over 15 ng/dL. Two non-diabetic patients and one diabetic patient were found, on abdomen CT, to have an adrenal adenoma. The rest of the patients refused further tests. Conclusion: The prevalence of primary aldosteronism in diabetic patients does not differ significantly from that in non-diabetic patients. Therefore, the present routine screening test for primary aldosteronism in hypertensive diabetic patients is not recommended. Background: Primary aldosteronism is the most common cause of secondary hypertension in humans. Its prevalence is estimated to be 10-15% among hypertensive patients. It is also associated with insulin resistance and diabetes mellitus. The aim of our study was to compare the prevalence of primary aldosteronism in hypertensive patients with presence of diabetes mellitus. Methods: We reviewed retrospectively the clinical records of 104 hypertensive patients for whom we also measured plasma renin activity (PRA) and plasma aldosterone concentrations (PAC). Results: Among 104 hypertensive patients, 44 had diabetes and 60 did not. There were no significant differences in clinical characteristics between non-diabetic and diabetic patients except for age and the number of antihypertensive agents. Patients with target organ damage were more common among diabetic patients. There was no correlation between PAC and the number of target organs damaged. In addition, Four patients from the non-diabetic and two from the diabetic group had a ratio over 30 for PRA/PAC and a PAC of over 15 ng/dL. Two non-diabetic patients and one diabetic patient were found, on abdomen CT, to have an adrenal adenoma. The rest of the patients refused further tests. Conclusion: The prevalence of primary aldosteronism in diabetic patients does not differ significantly from that in non-diabetic patients. Therefore, the present routine screening test for primary aldosteronism in hypertensive diabetic patients is not recommended.

HIF-1α Expression in BRAFV600E-Positive Papillary Thyroid Microcarcinoma

이정의,김군순,설혜정,이동호,이관주,송민호,조영석 대한갑상선학회 2011 International Journal of Thyroidology Vol.4 No.2

Background and Objectives: Recent studies have reported that vascular endothelial growth factor (VEGF) and hypoxia-inducible factor (HIF)-1α are up-regulated in BRAF^(V600E)-positive papillary thyroid carcinoma (PTC). We investigated whether papillary thyroid microcarcinomas (PTMCs) also exhibited increased expression of VEGF and HIF-1α. In addition, we analyzed the relationship between BRAF^(V600E) mutation and clinicopathological parameters, as well as HIF-1α expression in PTMC. Materials and Methods: We retrospectively selected 225patients with PTMC. Immunohistochemical staining for HIF-1α and VEGF was performed using paraffinembedded PTMC tissue microarrays. BRAF^(V600E) mutation status was analyzed by dideoxy sequencing. Results:PTMCs larger than 0.5 cm tend to be related to aggressive clinicopathological features such as thyroid capsular invasion (p=0.023) and bilaterality (p=0.047). Immunoreactivity to HIF-1α (20.7%) and VEGF (30.2%) was more prominent in PTMCs as compared to normal follicular cells. However, HIF-1α and VEGF expression was not correlated with clinicopathological features. BRAF^(V600E) mutation was found in 70.7% (159/225) of the PTMC cases. PTMCs harboring the BRAF^(V600E) mutation exhibited larger tumor sizes as compared to PTMCs without the BRAF^(V600E) mutation (p=0.038). However, BRAF^(V600E) mutation status did not correlate with the expression of HIF-1α(p=0.623) or VEGF (p=0.990). Conclusion: HIF-1α and VEGF were more frequently detected in PTMCs as compared to normal thyroid tissues. However, BRAF^(V600E) mutation status was not correlated with the expression of HIF-1α or VEGF in PTMCs.

NAD(P)H: Quinone Oxidoreductase 1 and NRH:Quinone Oxidoreductase 2 Polymorphisms in Papillary Thyroid Microcarcinoma: Correlation with Phenotype

이정의,김군순,이민호,김연수,이민희,이승은,김용경,유민정,김성정,최민정,조영석 연세대학교의과대학 2013 Yonsei medical journal Vol.54 No.5

Purpose: NAD(P)H:Quinone Oxidoreductase 1 (NQO1) C609T missense variant (NQO1*2) and 29 basepair (bp)-insertion/deletion (I29/D) polymorphism of the NRH:Quinone Oxidoreductase 2 (NQO2) gene promoter have been proposed as predictive and prognostic factors for cancer development and progression. The purpose of this study is to investigate the relationship between NQO1/NQO2 genotype and clinico-pathological features of papillary thyroid microcarcinoma (PTMC). Materials and Methods: Genomic DNA was isolated from 243 patients;and clinical data were retrospectively analyzed. NQO1*2 and tri-allelic polymorphism of NQO2 were investigated by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis. Results: PTMC with NQO1*2 frequently exhibited extra-thyroidal extension as compared to PTMC with wild-type NQO1 (p=0.039). There was a significant relationship between I29/I29 homozygosity of NQO2 and lymph node metastasis (p=0.042). Multivariate analysis showed that the I29/I29 genotype was associated with an increased risk of lymph node metastasis (OR, 2.24; 95% CI, 1.10-4.56; p=0.026). Conclusion: NQO1*2 and I29 allele of the NQO2 are associated with aggressive clinical phenotypes of PTMC, and the I29 allele represents a putative prognostic marker for PTMC.

갑상선 세포에서 전사보조활성인자인 CBP와 CIITA의 인터페론-감마 활성 부위에 대한 조절 : CBP and CIITA on GAS(Interferon- γ Activated Site)-Mediated Transcription in Thyroid Cells

채수흥,홍우정,김군순,조영석,김도희,김현진,구본정,송민호,김영건,노흥규 충남대학교 의과대학 지역사회의학연구소 2001 충남의대잡지 Vol.28 No.1

Background : In the previous stuides, we identified that the interferon-r activated sequence (GAS) in the 5-flanking region of rat ICAM-1 gene is major element for interferon-r-inducible expression of the gene in rat thyroid cells, FRTL-5. We here, investigated the role of transcriptional coactivators, CBP(CREB binding protein) and CⅡTA (class Ⅱ transactivator) in the modulation of the activity of GAS which could interacts with signal transducers and activators of transcription-1 and 3 (STAT1 and STAT3). Methods : The expression of CBP RNA and protein were quantitated in FRTL-5 after stimulation with interferon-r (IFN-r), thyroid stimulating hormone (TSH), forskolin and methimazole. Direct association of CBP with STAT were analyzed by immunoprecipitation. The transcriptional roles of CBP and CⅡTA in the regulation of GAS were assessed by the cotransfection with their expression vectors with reporters; 5-deletion constructs of rat ICAM-1 promoter or 8xGAS-luc constructs, into FRTL-5 thyroid cells. Results : The level of CBP RNA and protein were not changed by the treatment with TSH, IFN-r, forskolin and methimazole in FRTL-5, FRT and BRL liver cells. The CBP could be directly associated with STAT1. Furthermore, the overexpression of CBP significantly increases the both promoter activities; rat ICAM-1 gene promoter which has GAS element and 8xGAS-luc cassette constructs. However, the cotransfection of CⅡTA decreased the constitutive and CBP-mediated transactivation of rat ICAM-1 promoter and 8xGAS-luc cassette constructs. Conclusion : We identified that the two tanscriptional coactivators; CBP and CⅡTA has differential roles in the regulation of transcriptional activity of GAS drived promoter. CBP increases the GAS activity through the direct binding with STAT1, but CⅡTA inhibited the CBP-mediated transactivation of GAS activity.