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A Mutation in <i>PMP2</i> Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy
Hong, Young Bin,Joo, Jaesoon,Hyun, Young Se,Kwak, Geon,Choi, Yu-Ri,Yeo, Ha Kyung,Jwa, Dong Hwan,Kim, Eun Ja,Mo, Won Min,Nam, Soo Hyun,Kim, Sung Min,Yoo, Jeong Hyun,Koo, Heasoo,Park, Hwan Tae,Chung, Ki Public Library of Science 2016 PLoS genetics Vol.12 No.2
<▼1><P>Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of peripheral neuropathies with diverse genetic causes. In this study, we identified p.I43N mutation in <I>PMP2</I> from a family exhibiting autosomal dominant demyelinating CMT neuropathy by whole exome sequencing and characterized the clinical features. The age at onset was the first to second decades and muscle atrophy started in the distal portion of the leg. Predominant fatty replacement in the anterior and lateral compartment was similar to that in CMT1A caused by <I>PMP22</I> duplication. Sural nerve biopsy showed onion bulbs and degenerating fibers with various myelin abnormalities. The relevance of <I>PMP2</I> mutation as a genetic cause of dominant CMT1 was assessed using transgenic mouse models. Transgenic mice expressing wild type or mutant (p.I43N) <I>PMP2</I> exhibited abnormal motor function. Electrophysiological data revealed that both mice had reduced motor nerve conduction velocities (MNCV). Electron microscopy revealed that demyelinating fibers and internodal lengths were shortened in both transgenic mice. These data imply that overexpression of wild type as well as mutant <I>PMP2</I> also causes the CMT1 phenotype, which has been documented in the <I>PMP22</I>. This report might expand the genetic and clinical features of CMT and a further mechanism study will enhance our understanding of <I>PMP2</I>-associated peripheral neuropathy.</P></▼1><▼2><P><B>Author Summary</B></P><P>Isolation of causative mutation is still challenging in genetic diseases with a variety of genetic causes. We discovered a mutation in a novel gene from a family exhibiting a peripheral neuropathy by virtue of next-generation sequencing. Although the family shows characteristic clinical features of hereditary motor and sensory neuropathy, we could not find a mutation from well-known genes. To demonstrate the clinical relevance of the novel gene, we generated transgenic mice, which carry the patients’ mutation within their chromosome. The transgenic mice exhibited the same phenotype as the patients including peripheral neuropathic symptoms and reduced locomotor function. We also observed the affected peripheral nervous system through electron microscopy. It seems that the expression of the mutant protein impairs the myelin of peripheral nervous system. These data might expand the genetic, clinical, and pathophysiological features of the peripheral neuropathy and a further investigation will enhance our understanding of disease in the peripheral nervous system.</P></▼2>
Modulation of Electrophysiology by Transcranial Direct Current Stimulation in Psychiatric Disorders
Minah Kim,Yoo Bin Kwak,Tae Young Lee,Jun Soo Kwon 대한신경정신의학회 2018 PSYCHIATRY INVESTIGATION Vol.15 No.5
Objective Transcranial direct current stimulation (tDCS) is a non-invasive neuromodulation technique increasingly used to relieve symptoms of psychiatric disorders. Electrophysiologic markers, such as electroencephalography (EEG) and event-related potentials (ERP), have high temporal resolution sensitive to detect plastic changes of the brain associated with symptomatic improvement following tDCS application. Methods We performed systematic review to identify electrophysiological markers that reflect tDCS effects on plastic brain changes in psychiatric disorders. A total of 638 studies were identified by searching PubMed, Embase, psychINFPO. Of these, 21 full-text articles were assessed eligible and included in the review. Results Although the reviewed studies were heterogeneous in their choices of tDCS protocols, targeted electrophysiological markers, and disease entities, their results strongly support EEG/ERPs to sensitively reflect plastic brain changes and the associated symptomatic improvement following tDCS. Conclusion EEG/ERPs may serve a potent tool in revealing the mechanisms underlying psychiatric symptoms, as well as in localizing the brain area targeted for stimulation. Future studies in each disease entities employing consistent tDCS protocols and electrophysiological markers would be necessary in order to substantiate and further elaborate the findings of studies included in the present systematic review.
Hong, Sang Bin,Lee, Tae Young,Kwak, Yoo Bin,Kim, Sung Nyun,Kwon, Jun Soo Elsevier 2015 SCHIZOPHRENIA RESEARCH Vol.169 No.1
<P><B>Abstract</B></P> <P><B>Objectives</B></P> <P>Illness course in individuals at clinical high risk (CHR) status for psychosis is heterogeneous, which limits effective treatment for all CHR subgroups. Baseline predictors of positive symptom trajectory in the CHR group will reduce such limitations. We singled out the putamen, thought to be involved in the generation of the key schizophrenia symptoms early in the course of disease, as a potential predictor of positive symptom trajectory in CHR patients.</P> <P><B>Method</B></P> <P>We recruited 45 CHR patients and 29 age- and gender-matched healthy controls (HC). The CHR group was divided into patients with positive symptom reduction (CHR-R) and patients without positive symptom reduction (CHR-NR) at 6months. Comparisons were made between the baseline putamen volumes of CHR-R, CHR-NR and HC groups. The relationship between baseline putamen volumes and clinical measures was investigated.</P> <P><B>Results</B></P> <P>Left putamen volumes of CHR-R patients were significantly smaller than those of HCs (<I>p</I> =0.002) and of CHR-NR patients (<I>p</I> =0.024). CHR-R patients had significantly reduced leftward laterality compared to HCs (<I>p</I> =0.007). In the CHR-R group, bilateral putamen volumes were correlated with positive symptom severity at baseline (<I>r</I> =−0.552, <I>p</I> <SUB>=</SUB> 0.001) and at 6months (<I>r</I> =−0.360, <I>p</I> =0.043), and predicted positive symptom score change in 6months at a trend level (<I>p</I> =0.092).</P> <P><B>Conclusion</B></P> <P>Smaller left putamen volumes in CHR-R patients, and the correlation between positive symptom severity and putamen volumes suggest that putamen volume is a possible risk-stratifier and predictor of clinical course in the CHR population.</P>
휴대용 단말을 이용한 원격조종 상반신 재활치료 로봇 설계 및 구현
곽성훈(Seong-Hun Kwak),현성빈(Sung-Bin Hyun),노혜민(Hye-Min Noh),유철중(Cheol-Jung Yoo) 한국정보기술학회 2014 한국정보기술학회논문지 Vol.12 No.3
In recent years, several studies have attempted to develop and discover convergence between information technology and biotechnology. Currently, researchers are dedicatedly studied the rehabilitation of medical equipment’s through the emerging trend, convergence technology. This paper presents the design and implementation of robotic exoskeleton to facilitate the rehabilitation of elbow and shoulder movements. The proposed robotic exoskeleton will have a capability to be controlled using mobile device. This capability can provide user friendly controlling mechanism which is convenient for the patients. The design and implementation stages will follow the TDD(Test-Driven Development) software development process that combines test-first development and refactoring tasks. The iterative testing and refactoring activities in TDD provide highly verified code that would increase the reliability and stability and reduce the development time.
Thalamo-cortical system involving higher-order nuclei in patients with first-episode psychosis
( Kang Ik K. Cho ),( Yoo Bin Kwak ),( Wu Jeong Hwang ),( Junhee Lee ),( Minah Kim ),( Tae Young Lee ),( Jun Soo Kwon ) 생화학분자생물학회(구 한국생화학분자생물학회) 2018 BMB Reports Vol.51 No.9
Based on the piling reports of disruptions in the thalamus of patients with schizophrenia, the alteration in the thalamo-cortical system has been regarded as the core pathophysiology. As the thalamus is composed of distinctive nuclei with different cytoarchitecture and cortical connections, nuclei specific investigations have been actively conducted in post-mortem studies. In addition, the importance of early changes has been highlighted, which in turn has led to investigations of the thalamo-cortical system using non-invasive neuroimaging methods. From this perspective, the early structural changes in the thalamo-cortical system, such as the thalamo-cortical connection and nuclei specific microstructural changes (which are coherent with findings from post-mortem methods) will be briefly discussed. The main findings, which are the reduced thalamo-prefrontal connection and reduced microstructural complexity in the higher-order nuclei detected in first-episode psychosis patients, suggest the occurrence of early alterations within and between the communication hub of the brain and cortex. These findings suggest not only directions for further studies for unveiling the thalamo-cortical system related pathophysiology, but also the possibility of using the reduced microstructural complexity in the higher order nucleus as a biomarker for schizophrenia. [BMB Reports: Perspective 2018; 51(9): 427-428]
Kim Ju Young,Kim Yu Bin,Choi Sujin,Lee Yoo Min,Kim Hyun Jin,Kim Soon Chul,Jang Hyo-Jeong,Choi So Yoon,Yi Dae Yong,Lee Yoon,Choi You Jin,Kang Yunkoo,Lee Kyung Jae,Suk Jin Hong,Hwang Jun Hyun,Kwak Sangg 거트앤리버 소화기연관학회협의회 2023 Gut and Liver Vol.17 No.3
Background/Aims: A full colonoscopy is currently required in children and adolescents with colorectal polyps, because of their potential of neoplastic transformation and complications such as intussusception. We aimed to analyze the associations of polyp characteristics in children and adolescents with colorectal polyps. Based on these findings, we also aimed to reevaluate the necessity of conducting a full colonoscopy. Methods: Pediatric patients <18 years of age who had undergone a colonoscopic polypectomy and those with <5 colorectal polyps were included in this multicenter, retrospective study. Baseline clinicodemographics, colonoscopic and histologic findings were investigated. Results: A total of 91 patients were included. Multivariate logistic regression analysis showed that polyp size was the only factor associated with the presence of any polyps located proximal to the splenic flexure (odds ratio [OR], 2.25; 95% confidence interval [CI], 1.28 to 4.28; p=0.007). Furthermore, polyp location proximal to the splenic flexure and sessile morphology were associated with the presence of any adenomatous polyp (OR, 8.51; 95% CI, 1.43 to 68.65; p=0.023; OR, 18.41; 95% CI, 3.45 to 173.81; p=0.002, respectively). Conclusions: In children and adolescents presenting with <5 colorectal polyps, polyp size and the presence of any adenomatous polyp were positively associated with polyp location proximal to the splenic flexure. This finding supports the necessity of a full colonoscopic exam in pediatric patients with colorectal polyps for the detection of polyps before the occurrence of complications such as intussusception or neoplastic transformation.
강지원 ( Ji Won Kang ),곽민제 ( Min Je Kwak ),김기명 ( Ki Myong Kim ),김유빈 ( Yoo Bin Kim ),이경서 ( Kyung Seo Lee ),박병두 ( Byoung Du Park ),송규정 ( Kyu Jeong Song ) 전북대학교 과학교육연구소 2018 과학과 과학교육 논문지 Vol.43 No.1
Jet-air 흐름 내에 구속된 탁구공의 평형상태에 대해 연구하였다. Jet-air 내에 구속된 탁구공의 평형상태에서 작용하는 힘들은 Jet-air 흐름 방향에 평행한 성분의 힘과 수직한 성분의 힘 등으로 분리하여 분석하였다. 코안다 효과로 인하여 Jet-air 내에 탁구공이 구속됨을 설명하고, Jet-air 흐름의 경사각이 증가함에 따라 Jet-air 시작점부터 공중에 떠있는 탁구공까지의 거리가 증가함을 측정한 후, 이를 Jet-air 흐름 방향에 평행한 성분의 힘과 Jet-air 흐름의 경사각 관계로서 해석하였다. The equilibrium state of the ping pong ball held in the jet-air flow was studied. The forces acting in the equilibrium state of a ping pong ball held in the jet-air were analyzed by dividing the force of the component parallel to the jet-air flow direction and the force of the component perpendicular to the jet-air flow direction. It is explained that the ping-pong ball is held within the jet-air due to the Coanda effect. As the inclination angle of the jet-air flow increases, the increasing distance from the jet-air starting point to the floating ping-pong ball was measured. This is interpreted as the relationship between the force of the component parallel to the jet-air flow direction and the inclination angle of the jet-air flow.