한국인 좌심실 비대증 환자들에서 파브리병 선별검사의 의의

박형두,조성윤,이수연,전은석,박승우,이상훈,이상철,최진오,박성지,장성아,김형관,기창석,김종원,진동규,Park, Hyeong-Du,Jo, Seong-Yun,Lee, Su-Yeon,Jeon, Eun-Seok,Park, Seung-U,Lee, Sang-Hun,Lee, Sang-Cheol,Choe, Jin-O,Park, Seong-Ji,Jang, Seong-A,K 대한유전성대사질환학회 2014 대한유전성대사질환학회지 Vol.14 No.2

목적: 파브리병(Fabry disease)은 alpha-galactosidase A의 결핍으로 인하여 리소좀에 globotriaosylceramide(Gb3)가 축적되어 여러 장기에 이상을 일으키는 질병이다. 본 연구에서는 파브리병의 만성 합병증 중 심장 질환을 주로 보이는 환자들, 그 중에서도 좌심실 비대증을 보이는 한국인 환자들을 대상으로 파브리병의 빈도를 알아보고자 하였다. 방법: 좌심실비대증을 진단받은 환자 257명을 연구대상으로 선정하였고, 남성이 172명(평균 56세, 범위 30-81세), 여성이 84명(평균 66세, 범위 45-85세)이었다. 파브리병 선별을 위하여 고성능액체크로마토그래피-탠덤질량분석기를 이용하여 소변 Gb3 농도를 측정하였다. 확진은 형광분석법에 의한 말초혈액의 alpha-galactosidase A 활성도와 염기서열분석법에 의한 GLA 유전자 돌연변이 유무를 검사하여 이루어졌다. 결과: 소변 Gb3 검사에서 cutoff (25 ug/mmoL creatinine)를 초과하는 환자는 4명이었지만, 최종적으로 추가 검사를 통해 진단된 파브리병 환자는 여성 환자 한 명이었다(1/257명, 0.4%). 확진된 환자는 54.3 ug/mmoL creatinine의 Gb3 농도와 15.5 nmole/hr/mg protein (참고범위, $55.2{\pm}12.7nmole/hr/mg$ protein)의 alpha-galactosidase A 활성도를 보였다. GLA 유전자에서는 c.796G>A (p.D266N) 돌연변이가 이형접합체로 관찰되었다. 추가로 시행한 가족검사에서 환자의 딸은 아직 파브리병의 증상을 보이지 않았지만, 엄마와 같은 GLA 돌연변이(c.796G>A)를 가지고 있었으며, alpha-galactosidaseA 활성도는 42.5 nmole/hr/mg protein, 소변 Gb3 농도는 25.5 ug/mmoL creatinine을 나타냈다. 결론: 한국인 좌심실 비대증을 가진 환자들에서 파브리병의 유병율은 0.4%였다. 유병율이 낮아 보임에도 불구하고, 파브리병 진단 전 환자와 가족 구성원을 발견할 수 있는 장점 덕분에 선별검사의 의의가 있는 것으로 사료된다. Objectives: Fabry disease (FD) is a lysosomal storage disease caused by the inappropriate accumulation of globotriaosylceramide (Gb3) in tissues due to a deficiency in the enzyme ${\alpha}$-galactosidase A. Hypertrophic cardiomyopathy is one of the chronic complications of FD. We tried to evaluate the prevalence of Fabry disease in the Korean patients with left ventricular hypertrophy (LVH). Methods: A total of 257 patients with LVH were recruited and they were 172 males (mean 56 years, range 30-81 years) and 84 females (mean 66 years, range 45-85 years). Urinary Gb3 was used to screen FD by high performance liquid chromatography-tandem mass spectrometry. Confirmatory tests were done by alpha-galactosidaseA activity using fluorometric assay and by GLA mutation analysis using sequencing. Results: Four patients were screening positive by urinary Gb3 analysis (cutoff, 25 ug/mmol creatinine). But, one female patient was diagnosed with FD confirmed by enzyme analysis in leukocytes as well as by genetic analysis (1/257 patients, 0.4%). She showed 54.3 ug/mmoL creatinine of Gb3 and 15.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alphagalactosidase A activity. And she had a heterozygous GLA mutation of c.796G>A (p.D266N). Her daughter was found to be a carrier for FD confirmed by GLA mutation analysis. Asymptomatic carrier showed 25.5ug/mmol creatinine of Gb3 and 42.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alpha-galactosidase A activity. Conclusions: The prevalence of FD in Koran patients with LVH was detected as 0.4%. Although the prevalence seems to be low, screening studies are of great importance for detecting hidden cases as well as for identifying other effected family members.

Characterization and anti-tumor activity of saponin-rich fractions of South Korean sea cucumbers (Apostichopus japonicus)

Yu-Lin Dai,Eun-A Kim,Hao-Ming Luo,Yun-Fei Jiang,Jae-Young Oh,Soo-Jin Heo,You-Jin Jeon 제주대학교 해양과학연구소 2020 해양과환경연구소 연구논문집 Vol.44 No.-

In this study, the saponin-rich fractions of five individual (two Red and three Black) sea cucumbers (Apostichopus japonicus) in South Korea were investigated for their antiproliferative effect against HL-60, B16F10, MCF-7, and Hep3B tumor cell lines. The red sea cucumber saponin-rich fraction (SSC) from Jeju Island (JRe) decreased the growth of HL-60 with an IC50 value of 23.55 ± 3.40 lg/mL, which represented the strongest anticancer activity among the extracts. Further, SSC downregulated B-cell lymphoma extra-large (Bcl-xL), while upregulating, to different degrees, Bcl-2-associated X protein (Bax), caspase-9, caspase-3, PARP cleavage, and apoptotic bodies in cancer cells. Evidence for SSC inducing apoptosis via the mitochondria-mediated pathway was found. The contents of SSCs were determined using ultra high-performance liquid chromatography coupled with a quadrupole orbitrap mass spectrometry to comparatively evaluate the regional influence. In West Sea, the total SSC content of A. japonicus was 15.5 mg/g, representing the highest content, while A. japonicus in the South Sea yielded the lowest content at 8 mg/g. The major saponin constituent in SSC was identified as Holotoxin A1, which may the anti-tumor compound in A. japonicus.

Helicobacter pylori outer membrane protein, HomC, shows geographic dependent polymorphism that is influenced by the Bab family

Aeryun Kim,Stephanie L. Servetas,Jieun Kang,Jinmoon Kim,장성일,Yun Hui Choi,Hanfu Su,Yeong-Eui Jeon,Youngmin A. Hong,유윤정,D. Scott Merrell,차정헌 한국미생물학회 2016 The journal of microbiology Vol.54 No.12

The array of outer membrane proteins (OMPs) found in Helicobacter pylori provides a crucial component for persistent colonization within the gastric niche. Not only does H. pylori harbor a wide number of OMPs, but these OMPs often vary across strains; this likely contributes to immune evasion, adaptation during long term colonization, and potentially differential disease progression. Previous work from our group described OMP differences among the Bab family (babA, babB, and babC) and Hom family (homA and homB) from 80 American H. pylori clinical isolates (AH) and 80 South Korean H. pylori clinical isolates (KH). In the current study, we expanded our investigation to include the less well characterized Hom family member, HomC. Overall, we identified and genotyped three homC variants: homCS, homCL, and homCM, in both populations. Similar to other polymorphic genes, the KH group showed less overall diversity, with 97.5% of strains harboring homCL. In contrast, a more heterogeneous profile was observed in strains derived from an American population; we found nearly equal distribution of homCS and homCL. Further analysis of the AH group identified associations between homC polymorphism and bab genotype; in AH strains, there was a significant association between homCL and carriage of babA at locus A. Since babA is an important virulence factor for the development of severe gastric disease, these data may suggest that homC polymorphism plays a role in H. pylori pathogenesis.

농업용 트랙터의 가변형 3점 히치 유압 시뮬레이션 모델 개발

손모아 ( Mo-a Son ),전현호 ( Hyeon-ho Jeon ),백승민 ( Seung-min Baek ),백승윤 ( Seung-yun Baek ),이준호 ( Jun-ho Lee ),김용주 ( Yong-joo Kim ) 한국농업기계학회 2022 한국농업기계학회 학술발표논문집 Vol.27 No.1

현재 트랙터에 사용하고 있는 3점 히치는 작업기 탈부착 시 자유도가 낮고 조작이 어려워 작업기 교환에 많은 시간이 소요되기 때문에 이를 개선하기 위한 연구가 필요하다. 본 연구에서는 높이 및 폭 조절이 가능한 3점 히치를 개발하기 위해 시뮬레이션 모델을 개발하였으며, 제원에 따른 시뮬레이션을 수행하였다. 유압 시스템 해석은 상용 소프트웨어인 AMESim (Ver.: 16, lmagine S. A. company, France)을 사용하였다. 가변형 3점 히치 장치의 유압시스템 단품모델은 국내 중형 마력급 이상의 트랙터에서 사용하는 3점 히치(Category-Ⅲ) 의 제원을 참고하여 개발하였다. 유압 펌프의 토출 유량은 52.8 lpm(@2,200rpm)으로 설정하였으며, 농작업 조건을 반영하여 유압펌프의 회전속도는 일정하게 설정하였다. 유압 실린더의 피스톤 직경 및 스트로크 길이는 65, 115 mm로 설정하였으며, 3점 히치에 작용하는 수직 하중을 구현하기 위해 외력 적용이 가능한 실린더 모델을 활용하였다. 입력 신호 값은 작업기의 무게(800 kg)를 반영하여 지속적인 하중이 작용하도록 구성하였다. 3점 히치 장치의 시뮬레이션 해석은 승강 및 하강 조건에서 각각 수행되었으며, 펌프의 토출 유량 및 압력은 2 sec의 안정화 구간 이후 각각 27.2 MPa, 880 cc/s으로 나타났으며, 실린더 입력 단의 유량 및 압력은 각각 25.0 MPa, 880 cc/s으로 나타났다. 유압 펌프의 신뢰성 평가 기준은 85% 이상의 효율을 가진 모델을 기준으로 시뮬레이션 모델은 이를 만족하는 것으로 나타났다. 차후 연구에서는 추가 실린더를 구성하여 가변형 3점 히치 구현을 위한 연구를 수행할 예정이다.

Analysis of Candidate Genes for Grain Weight Traits Using NILs from An Interspecific Cross in Rice

Yun-A Jeon,Dong-Min Kim,Hyun-Sook Lee,Ju-Won Kang,Yun-Joo Kang,Sang-Nag Ahn 한국육종학회 2015 한국육종학회 심포지엄 Vol.2015 No.07

Grain weight is the most important target not only as a major component of grain yield, but also of the cooking qualities in rice breeding program. In a previous study, a high-resolution physical map targeting a cluster of yield-related QTLs for grain weight, spikelets per panicle has been constructed using series of BC3F4 nearly isogenic lines (NILs) derived from a cross between the Korean japonica cultivar Hwaseong and O. rufipogon. The QTLs including grain weight trait have been mapped in a 25.5kb region containing three genes. Based on GenBank database, these genes include male sterility 5 (OsMs5, LOC_Os09g36740), similar ascorbate peroxidase (OsApx, LOC_Os09g36750) and glutelin family protein (OsGlu, LOC_Os09g36760). Their endogenous expression patterns were analyzed in various rice tissues (2-week seedling, flag leaf, root and panicle) from the parental lines, Hwaseong and NIL-gw9. Semi-quantitative RT-PCR and qRT-PCR were performed using gene specific primer sets. The cDNAs of the similar OsApx gene of Hwaweong and NIL-gw9 were cloned. Over-expression and RNAi knock-down transgenic plants using three genes are under construction for the functional characterization of the genes. The results will be discussed.

자궁경부 원추절제술과 관련된 자궁적출술에서 조직병리와 절단경계면의 침범여부에 기초한 잔류병소의 예측에 관한 연구

윤영민 ( Yun Yeong Min ),이주열 ( Lee Ju Yeol ),전현아 ( Jeon Hyeon A ),김홍배 ( Kim Hong Bae ),이근영 ( Lee Geun Yeong ),강성원 ( Kang Seong Won ) 대한산부인과학회 2003 Obstetrics & Gynecology Science Vol.46 No.5

Objective : The objective of this study is to evaluate predictive factors for residual lesion after conization in patients with cervical neoplasia. Methods : we performed retrospective study (between January 1996 and June 2002) and reviewed 146 patients who had undergone cervical conization followed by subsequent hysterectomy. The age and the parity of patients, the histopathology and the status of resection margins of cone specimens were analysed as predictive values of residual lesions. Results : The prevalence rate of positive cone margins were 0%, 15%, 43.4%, and 85.7% respectively in patients with low-grade squamous intraepithelial lesion (LSIL) (n=3), high-grade squamous intraepithelial lesion (HSIL) (n=60), Cervical cancer stage Ⅰa1 (CC-Ⅰa1) (n=76) and Cervical cancer stage Ⅰa2 (CC-Ⅰa2) (n=7). The prevalence rates of positive residual lesions in post-cone hysterectomy specimens were 0%, 23.3%, 35.5%, and 100% respectively in those with LSIL, HSIL, CC-Ⅰa1, and CC-Ⅰa2. Residual lesions were significantly more frequently found in patients with positive cone margin (56.3%) than in those with negative margin (21.4%) (P value=0.000026). Positive predictive values of margin status for the presence of residual lesions were 0% (LSIL), 22.2% (HSIL), 57.6% (CC-Ⅰa1) and 100% (CC-Ⅰa2). Negative predictive values of margin status for the absence of residual lesions were 100% (LSIL), 76.5% (HSIL), 81.4% (CC-Ⅰa1) and 0% (CC-Ⅰa2). Only 8.3% (4/48) of patients with positive cone margin had more advanced residual lesions. 9.2% (9/98) of patients with negative margins had invasive residual lesion. Conclusion : The prevalence rate of positive cone margin and residual lesion increased with high severity of cervical neoplasia. Patients with positive cone margin had significantly higher chances of having residual lesion than those with negative margin. Free cone margin does not ensure the absence of residual lesion in the remaining cervix. Positive cone margin does not invariably indicate the presence and persistence of more severe residual lesion. Subsequent hysterectomy may be reserved for the patients with invasive cone pathology, concomitant morbid uterine condition, or not reliable for continuous follow-up.

Rapid appearance of new cerebral microbleeds after acute ischemic stroke

Jeon, S. -B.,Kwon, S. U.,Cho, A. -H.,Yun, S. -C.,Kim, J. S.,Kang, D. -W. Ovid Technologies (Wolters Kluwer) - American Acad 2009 Clinical Neurophysiology Vol.73 No.20

<P>BACKGROUND: It is unknown whether the development of cerebral microbleeds (MBs), small areas of signal loss on T2*-weighted gradient-echo imaging (GRE), follows a slow or a rapid process. We hypothesized that MBs may develop rapidly after certain critical events, such as strokes, and investigated the frequency, location, and factors associated with the formation of new MBs after acute ischemic stroke. METHODS: We retrospectively examined 237 consecutive acute ischemic stroke patients who underwent MRI within 24 hours and follow-up MRI during the week after symptom onset. We defined new MBs as MBs that newly appeared on follow-up GRE outside the infarcted area. We examined the association of new MBs with demographics, risk factors, laboratory data, baseline MBs, and small vessel disease (SVD; leukoaraiosis and lacunar infarctions). RESULTS: Seventy-five patients (31.6%) had baseline MBs, and 30 (12.7%) developed new MBs. Multiple logistic regression analysis indicated that the presence of baseline MBs (odds ratio [OR] 5.72, 95% confidence interval [CI] 2.12-15.42, p = 0.001) and severe SVD (OR 2.94, 95% CI 1.12-7.77, p = 0.03) independently predicted the development of new MBs. Of the 56 new MBs, 29 (51.8%) appeared in the lobar location, 17 (30.4%) appeared in the deep location, and 10 (17.9%) appeared in the infratentorial location. CONCLUSIONS: This study suggests that new microbleeds (MBs) can develop rapidly after acute ischemic stroke. Baseline MBs and severe small vessel disease are predictors for the development of new MBs. Further studies will be needed to investigate the clinical implications and mechanisms of these findings.</P>

경추 유합술 이후 발생한 인접분절 추간판 탈출증 환자에 대한 감압요법을 포함한 한의학적 치료 증례보고

이지연(Ji-Yun Lee),신원빈(Won-Bin Shin),임수연(Su-Yeon Lim),문영주(Young-Joo Moon),전현아(Hyun-A Jeon),남항우(Hang-woo, Nam) 척추신경추나의학회 2019 척추신경추나의학회지 Vol.14 No.2

Objectives : The purpose of this clinical study was to evaluate the effect of spinal decompression with Korean medicine treatment on the herniation of an intervertebral disc (HIVD) in a patient after fusion surgery of a cervical segment. Methods : A single patient was treated with spinal decompression, acupuncture, pharmacoacupuncture, and herbal medication. We measured the Numerical Rating Scale (NRS), Neck Disability Index (NDI), European Quality of Life-5 Dimension (EQ-5D), Cervical Range of Motion (cervical ROM) and the Beck Depression Inventory (BDI) score to evaluate the treatment effects. Results : The patient s post neck pain & pain in both arms improved significantly as suggested by the scores on the NRS, NDI, EQ- 5D, cervical ROM and BDI. Conclusions : Thus, spinal decompression, including Korean medicine treatment, could be taken into consideration for HIVD patients after fusion surgery.

Profound but Dysfunctional Lymphangiogenesis via Vascular Endothelial Growth Factor Ligands from CD11b⁺ Macrophages in Advanced Ovarian Cancer

Jeon, Bong-Hyun,Jang, Cholsoon,Han, Jinah,Kataru, Raghu P.,Piao, Lianhua,Jung, Keehoon,Cha, Hye Ji,Schwendener, Reto A.,Jang, Kyu Yun,Kim, Kwan-Sik,Alitalo, Kari,Koh, Gou Young American Association for Cancer Research 2008 Cancer Research Vol.68 No.4

<P>Severe ascites is a hallmark of advanced ovarian cancer (OVCA), yet the underlying mechanism that creates an imbalance between peritoneal vascular leakage and lymphatic drainage is unknown. Here, we identified and characterized peritoneal lymphatic vessels in OVCA mice, a model generated by implantation of human OVCA cells into athymic nude mice. The OVCA mice displayed substantial lymphangiogenesis and lymphatic remodeling, massive infiltration of CD11b(+)/LYVE-1(+) macrophages and disseminated carcinomatosis in the mesentery and diaphragm, and progressive chylous ascites formation. Functional assays indicated that the abnormally abundant lymphatic vessels in the diaphragm were not conductive in peritoneal fluid drainage. Moreover, lipid absorbed from the gut leaked out from the aberrant mesenteric lymphatic vessels. Our results indicate that vascular endothelial growth factor (VEGF)-C, VEGF-D, and VEGF-A from CD11b(+) macrophages are responsible for producing OVCA-induced dysfunctional lymphangiogenesis, although other cell types contribute to the increased ascites formation. Accordingly, the combined blockade of VEGF-C/D and VEGF-A signaling with soluble VEGF receptor-3 and VEGF-Trap, respectively, markedly inhibited chylous ascites formation. These findings provide additional therapeutic targets to ameliorate chylous ascites formation in patients with advanced OVCA.</P>

임신중독증 환자에서 생긴 비전형적인 용혈성요독증후군

전혜지 ( Hye Ji Jeon ),현혜선 ( Hye Sun Hyun ),이미라 ( Mi Ra Lee ),최슬아 ( Sl A Choi ),김윤숙 ( Yun Sook Kim ),배동한 ( Dong Han Bae ),김휘준 ( Hui Jun Kim ) 대한산부인과학회 2011 Obstetrics & Gynecology Science Vol.54 No.10

Atypical hemolytic uremic syndrome (HUS) in adults is a life-threatening disorder characterized by microangiopathic hemolytic anemia, thrombocytopenia and acute renal failure, which is not related to Escherichia coli. This disease occurs under the condition of certain stresses, including pregnancy related disease like as preeclampsia, placental abruption, and amniotic fluid embolism. Heparin and plasma exchange has proven to be an effective treatment for HUS and it has decreased the mortality of this illness. We experienced a case of 34 weeks` pregnant woman with preeclampsia who presented with hematuria, oliguria, hemolytic anemia and thrombocytopenia. We performed emergency cesarean section due to fetal distress. After operation, she was treated with transfusion of packed red blood cell, parenteral albumin, and anticoagulant. After seven days from the operation, the sign of hematuria disappeared and her renal function partially recovered. We describe this case with a brief review of the literature.