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        <i>SLC25A4</i> and <i>C10ORF2</i> Mutations in Autosomal Dominant Progressive External Ophthalmoplegia

        Park, Kyung-Pil,Kim, Hyang-Sook,Kim, Eun-Sook,Park, Young-Eun,Lee, Chang-Hoon,Kim, Dae-Seong 대한신경과학회 2011 Journal of Clinical Neurology Vol.7 No.1

        <P><B>Background and Purpose</B></P><P>Progressive external ophthalmoplegia (PEO) with Mendelian inheritance is a heterogeneous group of diseases associated with multiple deletions of mitochondrial DNA (mtDNA), which results from the disturbed replication and maintenance of mtDNA secondary to the mutations of nuclear genes including <I>POLG</I>, <I>SLC25A4</I>, <I>C10ORF2</I>, <I>POLG2</I>, <I>OPA1</I>, and <I>RRM2B</I>. The aim of this study was to identify the genetic defects underlying the pathology and clinical features in two Korean kindreds with autosomal dominant PEO.</P><P><B>Methods</B></P><P>Two pathologically proven PEO patients with a clear autosomal dominant pattern of inheritance were selected. To exclude a large-scale rearrangement, a long-range polymerase chain reaction (PCR) was performed using DNA extracted from biopsied muscle tissue taken from each patient. All coding regions and exon-intron boundaries of <I>POLG</I>, <I>SLC25A4</I>, <I>C10ORF2</I>, and <I>POLG2</I> were amplified by PCR and directly sequenced.</P><P><B>Results</B></P><P>One patient showed multiple deletions of mtDNA on long-range PCR analysis, and two known heterozygous missense mutations in <I>SLC25A4</I> (p.Asp104Gly) and <I>C10ORF2</I> (p.Glu479Lys) were identified in each patient. The p.Asp104Gly mutation in <I>SLC25A4</I> was identified in the patient with an early onset, slowly progressive, pure PEO phenotype, while the p.Glu479Lys mutation in <I>C10ORF2</I> was identified in the other patient, with a late-onset disease and PEO plus phenotype.</P><P><B>Conclusions</B></P><P>Two mutations affecting nuclear genes were identified in Korean patients with autosomal dominant PEO. Further studies are necessary to identify the clear pathogenetic mechanisms and establish genotype-phenotype correlations in autosomal dominant PEO.</P>

      • Life Science : Involvement of Heme Oxygenase-1 Induction in Inhibitory Effect of Ethyl Gallate Isolated from Galla Rhois on Nitric Oxide Production in RAW 264.7 Macrophages

        ( Pil Hoon Park ),( Youn Chul Kim ),( Ren Bo An ),( Jin Hur ),( Dong Hwan Sohn ) 영남대학교 약품개발연구소 2012 영남대학교 약품개발연구소 연구업적집 Vol.22 No.0

        In the present study, we investigated an anti-inflammatory effect of ethyl gallate (EG) isolated from Galla Rhois as evaluated by inhibition of nitric oxide (NO) production and inducible nitric oxide synthase (iNOS) expression, and a potential role of heme oxygenase-1 (HO-1) in the inhibition of NO production elicited by EG. Treatment of RAW264.7 macrophages with EG significantly inhibited the production of NO and iNOS expression stimulated by lipopolysaccharide (LPS). We also demonstrated that EG treatment increased HO-1 mRNA and protein expression, as assessed by quantitative RT-PCR and Western blot analysis. EG treatment also increased the levels of nuclear factor-erythroid 2-related factor 2, which is critical for transcriptional induction of HO-1. In addition, treatment with SnPP (tin protoporphyrin IX), a selective HO-1 inhibitor, counteracted the inhibitoryeffect of EG on nitrite production, suggesting that HO-1 is, at least in part, implicated in the inhibition of NO production induced by EG treatment. Taken together, these results indicate that EG isolated from Galla Rhois suppresses NO production in LPS-stimulated RAW 264.7 macrophages via HO-1induction.

      • KCI등재후보

        Analysis of factors affecting crestal bone loss around the implants

        Park, Ji-Hoon,Kim, Young-Kyun,Yun, Pil-Young,Yi, Yang-Jin,Yeo, In-Sung,Lee, Hyo-Jung,Park, Jin-Young Korean Academy of Dental Science 2009 Journal of korean dental science Vol.2 No.2

        Purpose : To determine whether peri-implant crestal bone loss could be affected by systemic disease, primary ISQ value, implantation method (submerged vs. non-submerged), surface treatment, and bone density Materials and methods : Patients who underwent fixture installation from June 24, 2005 to October 23, 2008 at Seoul National University Bundang Hospital were evaluated. A total of 157 patients (male: 52, female: 85) had 346 fixtures installed. Among them, 49 patients had periapical radiographs taken 1 year after prostheses were first set. A total of 97 fixtures were implanted. In particular, 30 fixtures were installed in patients with systemic diseases such as diabetes mellitus, cardiovascular disease, hypertension, and liver disease. The immediate stability of implants was measured with $Osstell^{tm}$. Implant surface treatment was classified into two groups (RBM, Cellnest (Anodized)), and bone density, into four groups (D1~D4). The bone resorption on the mesial and distal areas of fixtures was measured with periapical radiographs using the paralleling technique, and the mean value was calculated. The length determination program in IMPAX (AGFA, Belgium) was used. Results : At least 332 out of 346 (96%) installed GS II implants were successfully osseointegrated 1 year after prostheses were first set. The mean value of the bone resorption of the installed GS II implants was 0.44mm. The minimum value was 0mm, and the maximum value, 2.85mm. There was a statistically significant difference between the implantation methods (submerged, non-submerged) with regard to the amount of alveolar bone loss 1 year after prostheses were first set (p<0.05). Non-submerged implants showed less crestal bone loss. Note, however, that other variables had no correlation with crestal bone loss (p>0.05). Conclusion : There was a statistically significant difference between the 1-stage method and 2-stage method with regard to the amount of alveolar bone loss 1 year after prostheses were first set. Systemic disease, primary ISQ value, surface treatment, and bone density were not associated with alveolar bone loss. Other variables were assumed to have a correlation with alveolar bone loss.

      • Up-regulated claudin 7 expression in intestinal-type gastric carcinoma.

        Park, Jeong Youp,Park, Kyung Hwa,Oh, Tae Yun,Hong, Sung Pil,Jeon, Tae Joo,Kim, Chang Hoon,Park, Seung Woo,Chung, Jae Bock,Song, Si Young,Bang, Seungmin National Hellenic Research Foundation 2007 Oncology reports Vol.18 No.2

        <P>The disruption of tight junction protein expression in cancer might account for invasiveness, loss of cohesion, and lack of differentiation. Our cDNA array data indicated that claudin 7 was up-regulated in gastric carcinoma. We investigated the expression patterns and clinical implications of claudin 7 in gastric cancer. By immunohistochemical staining and Western blot, claudin 7 was significantly more often expressed in intestinal metaplasia, adenoma and cancer than in normal gastric epithelium. Twenty-seven (47.4%) of 57 normal gastric epithelium samples did not express claudin 7, but 50 (86.2%) of 58 intestinal metaplasia, 11 (91.7%) of 12 adenoma tissues, and 129 (82.7%) of 156 cancer samples did. Claudin 7 was more often unexpressed in diffuse type gastric cancer than in intestinal type. Only 13 (11.2%) of 116 intestinal type samples did not express claudin 7, but 14 (41.2%) of 34 diffuse type samples showed no expression. Compared to normal gastric epithelium, intestinal type gastric cancer significantly more often expressed claudin 7, but diffuse type did not. The expression pattern of claudin 7 did not change as cancer progressed. In this study we show that claudin 7 expression changed with the gastric carcinogenic process and that this is implicated in cancer characteristics.</P>

      • Adiponectin as an Anti-fibrotic and Anti-inflammatory Adipokine in the Liver

        ( Pil Hoon Park ),( Carlos Sanz Garcia ),( Laura E Nagy ) 영남대학교 약품개발연구소 2016 영남대학교 약품개발연구소 연구업적집 Vol.26 No.-

        Hepatic fibrosis is a dynamic process resulting from excessive deposition of extracellular matrix in the liver; uncontrolled progression of fibrosis can eventually lead to liver cirrhosis and/or hepatocellular carcinoma. The fibrogenic process is complex and modulated by a number of both hepatic and extra-hepatic biological factors. Growing evidence indicates that adipokines, a group of cytokines produced by adipose tissue, impart dynamic fibrosis. In particular, two key adipokines, adiponectin and leptin, directly regulate many biological responses closely associated with development and progression of hepatic fibrosis. Leptin acts as a pro-fibrogenic cytokine, while adiponectin possesses anti-fibrogenic and anti-inflamma-tory properties. Adiponectin, acting via its cognate recep-tors, adiponectin receptors 1 and 2, potently suppresses fibrosis and inflammation in liver via multiple mechanism. This review summarize recent findings concerning the role of adiponectin in fibrogenic process in liver and addresses the underlying molecular mechanisms in modu-lation of fibrosis.

      • 정신건강복지법 제 50조 응급입원에 대한 COVID-19의 영향

        박필섭(Pil Seop Park),변원탄(Won Tan Byun),주새한(Sae Han Joo),김세훈(Se Hoon Kim),박현우(Hyun-Woo Park),정재웅(Jae Woong Jeong),김휘곤(Whi Gon Kim),박영민(Young Min Park) 대한사회정신의학회 2022 사회정신의학 Vol.27 No.1

        목 적 : COVID-19가 정신건강증진 및 정신질환자 복지서비스 지원에 관한 법률(정신건강복지법) 제 50조에 의한 응급입원(이하 ‘응급입 원’) 대상자들의 인구학적, 임상적 변인에 어떤 영향을 끼쳤는지 알아보고자 하였다. COVID-19 이후 응급입원 대상자들의 응급입원 에서 비자발적 요소가 있는 보호입원 또는 행정입원으로의 전환, 야간 및 새벽 시간에 내원, ICD-10 분류 체계에 따른 진단명 중 조현병, 분열형 및 망상장애(F2)의 비율 증가를 예상하고 연구를 진행하였다. 방 법 : 2019년 1월 20일에서 2020년 1월 19일까지 일 정신병원에서 응급입원 한 군(‘COVID-19 이전 입원 군’) 과 2020년 1월 20일에서 2021년 1월 19일까지 응급입원 한 군(‘COVID-19 이후 입원 군’)으로 나누었고, 각각 100명, 96명이 포함되었다. 대상자들의 나이, 재원일수, 입원 사유, 성별, 의료보험 종류, 응급입원기간 후 입원 전환 유무와 종류, 주 진단명/부 진단명, 일 병원 초/재진 구분, 퇴원후 정신건강복지센터연계 의향, 퇴원 결과, 입원 시간, 응급입원 3일 내 처치(격리, 강박, 진정), 이전 정신건강의학과 입원력 유무, 결혼 유무, 교육 정도, 종교 유무 등의 변인을 평가하였으며 독립표본 t 검정(independent t-test), 카이제곱 분석(Chi-square test) 을통해 두 군의 특성을 비교, 분석하였다. 결 과 : COVID-19 이전 입원 군이 COVID-19 이후 입원 군에 비해 응급입원 후 72시간 내에 퇴원한 비율이 통계적으로 유의미하게 높았다(n=48 [48.0%] vs. n=24 [25.0%], p<0.001). 그리고 09-18시에 내원한 비율이 통계적으로 유의미하게 높았다(n=61 [61.0%] vs. n=28 [29.2%], p<0.01) COVID-19 이후 입원 군은 COVID-19 이전 입원 군에 비해, 응급입원에서 행정입원으로 전환된 비율이 통계 적으로 유의미하게 높았다(n=13 [13.0%] vs. n=28 [29.2%], p=0.005) 진단명에서는 ICD-10 분류 체계에 따른 진단명 중 조현병, 분열형 및 망상장애(F2) 비율이 통계적으로 유의미하게 증가하였다(n=21 [21.0%] vs. n=33 [34.4%], p=0.036) , 입원 시간에서는 18-24시 (n=23 [23.0%] vs. n=36 [37.5%], p=0.027), 00-09시 (n=16 [16.0%] vs. n=32 [33.3%], p=0.005)에 내원한 비율이 통계적으로 유의미 하게 높았다. 결 론 : 연구 결과 COVID-19 에 의한 영향으로 COVID-19 이후 입원 군에서 응급입원에서 행정입원으로의 전환 증가, ICD-10 분류 체계에 따른 진단명 중 조현병, 분열형 및 망상장애(F2)의 증가, 야간 및 새벽인 18-09시 내원한 비율의 증가가 나타났다. 이는 COVID-19에 의해 병원 방문을 꺼리게 된 환자들이 증상 악화 후 야간 및 새벽에 응급입원을 위해 일 병원을 많이 방문하였고, 질병인식 불능증(병식의 부족) 등을 겪는 조현병 환자들이 증가하였고, 행정기관, 보건소에서 방역의 문제로 정신응급환자에 대한 치료에 동의를 많이 하여 응급입원에서 행정입원으로의 전환 증가가 일어났을 가능성을 생각해 볼 수 있다. 본 연구의 결과가 응급입원의 현황을 확인할 수 있는 지침으로 사용될 수 있길 기대한다. Objectives : The objective of this study was to determine the effect of COVID-19 on patients admitted by emergency hospitalization in accordance with the Article 50 of Act on the improvement of mental health and the support for welfare services for mental patients. Methods : A retrospective cross-sectional study was conducted on data from Yangsan psychiatric hospital from January 20, 2019 to January 19, 2021. Pre-COVID-19 group included 100 patients who were hospitalized emergently from January 20, 2019 to January 19, 2020. Post-COVID-19 group included 96 patients who were hospitalized emergently from January 20, 2020 to January 19, 2021. The study compared sociodemographic and clinical characteristics between the two groups using independent sample t-test and Chi-square test. Results : The number of patients who were discharged after emergency hospitalization in 72 hours and the frequency of visits during 09-18 hour were significantly higher in the pre-COVID-19 group. However, transition from emergency hospitaliza-tion to hospitalization by special self-Governing City Mayor, Special self-governing Province Governor, or Head of Si/Gun/ Gu, F2-type diagnosis, and the frequency of visits during 18-24 hours were significantly higher in the post-COVID-19 group. Conclusion : This study revealed increased rates of transition from emergency hospitalization to hospitalization by special self-Governing City Mayor, Special self-governing Province Governor, or Head of Si/Gun/Gu, F2(Schizophrenia, schizotypal and delusional and other non-mood psyhotic disorders) diagnosis, and visits during 18-09 hour in the post COVID-19 group. These results can be used as a guideline to extend current understanding of emergency admission amid a crisis.

      • Tilt Error Measurement and Compensation Method for the Holographic Data Storage System Using Disturbance Observer

        Sang-Hoon Kim,Jang Hyun Kim,YongHee Lee,Hyunseok Yang,Joo-Youn Park,Kyoung-Su Park,Young-Pil Park IEEE 2009 IEEE transactions on magnetics Vol.45 No.5

        <P>Tilt error can affect a serious effect to holographic data storage system using angle(polytopic) multiplexing. Because the tolerance about tilt error is very tight it is important to measure the tilt error and compensate it. In this paper, tilt error measurement system with additional red laser and reflection geometry is suggested and servo control experiments are conducted. A servo controller to compensate tilt error is designed using disturbance observer. Amount of tilt is decreased smaller than 0.01 degree and signal-to-noise ratio is increased with the tilt servo controller when 0.216 degree of tilt disturbance is applied.</P>

      • Digital spatial profiling of endometriosis-derived clear cell and endometrioid carcinomas

        ( Young Hoon Park ),( Sung Pil Choo ),( Inha Lee ),( Jae Hoon Lee ),( Sihyun Cho ),( Young Sik Choi ),( Se Hoon Kim ) 대한산부인과학회 2022 대한산부인과학회 학술대회 Vol.108 No.-

        Objective: Ovarian clear cell carcinoma and endometrioid carcinoma reportedly develop from endometriosis. Identifying high-risk endometriosis patients in whom endometriosis lesions could progress to carcinoma is essential. However, the molecular mechanism underlying its malignant change remains obscure. This study was performed to investigate specific gene expressions in the malignant transformation of endometriosis to endometriosis-associated carcinoma Methods: Digital spatial profiling (DSP) technology is a nondestructive method for high-plex spatial profiling of RNA from a wide variety of sample types, including formalin-fixed, paraffin-embedded (FFPE) tissue sections. We performed DSP in FFPE tissues of adjacent endometriosis to endometrioid carcinoma or clear cell carcinoma (n = 8), endometrioid carcinoma (n = 5) and clear cell carcinoma (n = 3). Results: Using DSP, we analyzed eight paired samples isolated from clear cell or endometrioid carcinoma patients with biopsy-confirmed endometriosis and carcinoma lesions. 150 region of interest(ROI) in 16 ovarian tissue samples were analyzed. This study identified 188 deregulated genes in the endometriotic lesions. We found that PLS3 mRNA level was significantly increased by 2.56 fold in carcinoma relative to endometriosis. We found that FGF3 and CRYAB mRNAs level were significantly increased by 4.85 and 24.06 fold respectively in endometrioid carcinoma and clear cell carcinoma compared with adjacent endometriosis. To evaluate the expression of genes, we measured PLS3, FGF3, CRYAB, DSTN and CEP44 genes by real-time polymerase chain reaction in all samples and observed similar trends. Conclusion: This study identified 188 genes with differential expression in endometriotic lesions. The deregulation of the PLS3, FGF3, CRYAB, DSTN, and CEP44 genes may be responsible for the progression to carcinoma in endometriotic lesions, and these genes could be biomarker for detecting malignant transformation of endometriosis.

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