De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

We previously established the contribution of de novo damaging sequence variants to Tourette disorder (TD) through whole-exome sequencing of 511 trios. Here, we sequence an additional 291 TD trios and analyze the combined set of 802 trios. We observe an overrepresentation of de novo damaging variants in simplex, but not multiplex, families; we identify a high-confidence TD risk gene, CELSR3 (cadherin EGF LAG seven-pass G-type receptor 3); we find that the genes mutated in TD patients are enriched for those related to cell polarity, suggesting a common pathway underlying pathobiology; and we confirm a statistically significant excess of de novo copy number variants in TD. Finally, we identify significant overlap of de novo sequence variants between TD and obsessive-compulsive disorder and de novo copy number variants between TD and autism spectrum disorder, consistent with shared genetic risk.ope

개의 피부 및 귀의 감염증을 일으키는 녹농균 및 바이오필름에 대한 Cold atmospheric microwave plasma의 항균 효과

학위논문(석사) -- 서울대학교대학원 : 수의과대학 수의학과, 2021.8. 김은주.Pseudomonas aeruginosa is an opportunist pathogen that causes purulent inflammation in the skin and in the ears of dogs. Among the various virulence factors of P. aeruginosa, biofilms have been reported to result in antibiotic resistance, leading to therapeutic limitations. Cold atmospheric microwave plasma (CAMP) is known to have a high antimicrobial effect, which causes physical cell wall rupture and DNA damage. The objective of this study was to evaluate the antibacterial and antibiofilm effects of cold atmospheric microwave plasma (CAMP) against P. aeruginosa. The antibacterial effect of CAMP against P. aeruginosa ATCC strain and clinical isolates (n = 30) was evaluated using the colony count method. This study also assessed the effect of CAMP on biofilm by colony count method, water-soluble tetrazolium salt (WST) assay, and confocal laser scanning microscopy (CLSM). The complete eradication of P. aeruginosa (ATCC strain and clinical isolates) was achieved within 120 seconds at 50 watts (W), and clinical isolates required shorter time than the ATCC strain for complete eradication. In the biofilms, almost 3 log10 (99.9%) reduction in the number of viable cells was achieved within 4 minutes at 50 W, while with 30 W of plasma exposure no significant reduction in biofilms occurs. CAMP was effective against both planktonic bacteria and also against the biofilm formed by P. aeruginosa. However, further studies are needed about the safety of CAMP to canine skin and ears to fully validate its potential in the clinical application.녹농균은 개의 피부와 귀에서 만성적인 염증을 일으키는 기회 감염균이다. 항생제 처치에 대한 효능에 있어서 다양한 방해 요소들이 있으며, 바이오필름의 형성으로 인하여 항생제 내성이 야기될 수 있고 따라서 새로운 치료법이 필요하다. Cold atmospheric microwave plasma (CAMP)는 물리적으로 세포벽을 파괴하고 DNA에 손상을 야기해 높은 항균 효과를 가진 것으로 알려져있다. 이 논문은 CAMP의 녹농균과 바이오필름에 대한 항균 효과를 평가하였다. CAMP의 녹농균에 대한 항균 효과는 표준 균주와 임상 균주 (n = 30)를 대상으로 시험되었고, colony count method를 사용하여 평가하였다. 이 논문은 또한 colony count method, water-soluble tetrazolium salt (WST) assay, confocal laser scanning microscopy (CLSM)를 이용하여 바이오필름에 대한 CAMP의 효능을 평가하였다. 녹농균 (표준 균주와 임상 균주)은 50 watts (W)에서 120초안에 완전히 사멸되었고, 임상 균주는 표준 균주보다 완벽한 사멸에 더 짧은 시간이 소요되었다. 바이오필름의 경우, 살아있는 세포는 50 W에서 4분 안에 거의 3 log10 (99.9%) 감소하였으며, 30 W에서는 유의적인 감소가 확인되지 않았다. 결론적으로, CAMP는 녹농균과 바이오필름에 대해 항균 효과가 있다는 것을 시사한다. 하지만, 임상적인 적용을 위해서는 개의 피부와 귀에서 CAMP 적용 시에 안정성에 대해 추가적인 연구가 필요하다.1. Introduction 1 2. Material and Methods 4 2.1. Bacterial strains 2.2. Cold atmospheric microwave plasma 2.3. Plasma inactivation of planktonic cells 2.4. Biofilm growth 2.5. Plasma inactivation of biofilms 2.6. Confocal Laser Scanning Microscopy (CLSM) 2.7. Statistical methods 3. Results 9 3.1. In vitro study of the bactericidal effect of CAMP 3.2. Bactericidal effect of CAMP on P. aeruginosa ATCC10145 in biofilms 3.3. Live/Dead Staining and CLSM 4. Discussion 12 5. Conclusion 16 References 22 국문초록 27석

The Use of Virtual Reality in Psychiatry: A Review

With the advancement in modern information technology, virtual reality (VR) is being increasingly used for the diagnosis, assessment, and treatment of mental disorders. Recently, a VR-based cognitive behavioral therapy for social phobia has been recognized as a new medical technology in South Korea. This might lead to an increase in the use of VR in the field of psychiatry. The present review provides an overview of the status of VR therapies in various psychiatric conditions such as anxiety disorder, post-traumatic stress disorder, psychosis, addiction, and eating disorder. Besides, it summarizes the role of VR therapy in the management of disorders associated with child and adolescence psychiatry as well as various other clinical applications. Additionally, we discuss the merits and limitations of VR therapy, which might serve as a useful reference for researchers. In the current environment wherein novel medical models consisting of a combination of digital devices and medicine are being developed; understanding new technologies such as VR could open new doors to mental health treatments.ope

Predicting Behavior Problems in Korean Preschoolers: Interactions of the SLC6A4 Gene and Maternal Negative Affectivity

Objective: This study aimed to investigate whether maternal negative affectivity (MNA) moderates the effect of genetic polymorphism of SLC6A4 on behavior problems in children. Methods: Study participants comprised 143 preschoolers and their mothers from South Korea. The Childhood Behavior Checklist and Emotionality, Activity, and Sociability adult scale were used to measure child behavior and maternal affectivity. DNA from saliva was genotyped to determine serotonin transporter polymorphism. Results: MNA appeared to exert effects in externalizing (b =5.78, p＜0.001) and internalizing problems (b =6.09, p＜ 0.001). Interaction between SLCA4 polymorphism and MNA showed effects on externalizing (b =-7.62, p＜0.01) and internalizing problems (b =-9.77, p＜0.01). Children with two short alleles showed considerable differences in both externalizing and internalizing problems according to MNA; however, children with one short allele or none showed relatively few differences in behavior problems due to maternal affectivity. Conclusion: The effect of SLC6A4 polymorphism on child behavior seemed to be moderated by MNA. In addition, the impact of MNA was found to vary based on a child s genetic risk. High MNA may trigger the risk allele while low MNA causes the risk allele to illicit less behavior problems. Children with two short variants of the SLC6A4 gene may benefit from intervention that modulates MNA.ope

Joint Attention Virtual Classroom: A Preliminary Study

Objective: Previous studies have suggested that a virtual classroom is immersive and ecologically valid neuropsychological assessment, but those studies have limited components for social attentions. Therefore, the objective in the current study is the development of a joint attention virtual reality (JA-VR) classroom to incorporate social attentions between a participant and a virtual avatar teacher. Methods: Fifty-eight participants were recruited for current study (25 for pilot and 33 for main studies; 32.8% female, n=19; age: M=24.5, SD=4.0). We suggested a JA-VR classroom, and compared it with previous methods including a VR classroom without JA components. We conducted attention experiments with AX-version of continuous performance tasks. Results: Our results suggest that the new JA-VR classroom had convergent validity with previous methods, and that the JA-VR classroom promoted attentional processing among participants better than both old VR and non-VR measures. Conclusion: We add an important social attention concept to the virtual classroom, and believe that this work is an methodological foundation for the study of social attention in school life. We hope it ultimately help people with mental handicaps in social attention.ope

A Study on the Trust of Male on the Female Public Servants in Korea

The purpose of this study is seek for the practical methods that trust of male on the female public servants by empirical-positive approach. In this regards, this study considers the concept, features, precede study of trust, as the academic background of this study. In the nest step, this study examined prior researches for the composition variables of trust in order to analyze the trust of male on the female public servants. In order to accomplish the purpose of this study, the scope of study is limited in Pusan. This study analyzes 15 local municipalities including Pusan metropolitan city. In special, this study covered the survey on the perception on the male officials. As to summarize the results of this study, the composition variables of trust are individual background variables, cooperation, consistency in personnel policies, innovation. Based on the results from this study, several policy implications can be drawn for the trust of male on the female public servants. First of all, in order to improve the trust of male on the female public servants, strengthen management of appointment, strengthen cooperation, make certain of consistency in personnel policies, strengthen job training for female servants.공직내 여성공무원의 증가라는 상황이 남성공무원들의 사회적 배경변수에 따라 여성공무원에 대한 신뢰가 어떻게 작용하는지를 분석하는 것은 상당한 의미가 있는 연구라고 할 수 있겠다. 그러나 아직까지 남성공무원들의 여성공무원에 대한 신뢰를 분석한 연구는 대단히 드문 편이다. 이러한 맥락에서 수평적 신뢰인 남성공무원과 여성공무원간의 신뢰는 효율성을 증대시키는 조직신뢰로 이어진다는 점에서 그 중요성을 인식하고, 남성공무원의 인적배경과 특성이 여성공무원에 대한 신뢰에 어떠한 영향을 주었는지를 논의하고자 하였다. 다시 말해, 본 연구의 목적은 여성공무원수의 증가가 남성공무원들의 신뢰에 어떠한 영향을 미치는가를 실증적으로 분석하고, 영향을 미치는 변수들을 도출하여 이를 토대로 공직내 수평적 신뢰 및 조직신뢰 향상방안을 위한 대안을 제시하고자 하였다. 분석결과, 연령과 직급이 높고, 재직기간이 길수록 여성공무원들에 대해 부정적 응답률이 높게 나타났으며, 여성공무원에 대한 남성공무원의 신뢰에 대한 각 변수의 영향요인과 관련해서는 협력의식, 정부정책의 일관성·투명성, 혁신성 등이 유의미한 영향을 미치는 것으로 나타났다. 이를 바탕으로 보직관리강화, 여성공무원과 남성공무원 상호간의 협력의식 강화, 여성공무원에 대한 각종 인사정책의 일관성·투명성 확보, 여성공무원의 교육훈련강화를 조직내에서 여성공무원에 대한 남성공무원의 신뢰향상을 위한 정책적 제언으로 제시하였다.제 1 장. 서 론 = 1 제1절. 연구의 목적 = 1 제2절. 연구의 범위 및 방법 = 4 1. 연구의 범위 = 4 2. 연구의 방법 = 5 제 2 장. 신뢰의 개념과 관점 = 6 제1절. 신뢰의 개념 = 6 제2절. 신뢰연구의 관점과 선행연구의 고찰 = 11 1. 신뢰연구의 관점과 연구내용 = 12 2. 선행연구의 고찰 = 13 제 3 장. 분석모형 및 조사설계 = 22 제1절. 한국여성공무원의 현황 = 22 1. 전국여성공무원 변화추이 = 25 2. 부산광역시 여성공무원의 변화추이 = 27 제2절. 독립변수도출과 설문지 구성 = 29 1. 독립변수도출 = 29 2. 척도의 구성 = 30 제 4 장. 여성공무원에 대한 남성공무원의 신뢰분석 = 34 제1절. 자료의 수집과 표본특성 = 34 제2절. 자료의 특성 및 척도의 타당성분석 = 36 제3절. 여성공무원에 대한 남성공무원의 신뢰영향요인 분석 = 48 1. 독립변수와 종속변수간의 관계분석 = 48 2. 신뢰의 영향요인 분석 = 50 제 5 장. 분석결과에 대한 정책적 제언 = 53 1. 여성공무원 보직관리 강화 = 54 2. 여성공무원과 남성공무원의 협력의식 강화 = 55 3. 여성공무원에 대한 각종 인사정책의 일관성·투명성 확보 = 56 4. 여성공무원의 교육훈련강화 = 57 제 6 장. 결론 = 59 참 고 문 헌 = 61 부록 (설문지) = 6

Management of Aggression in Young Male Adults Using the Virtual Reality-Based Communication Modification Program

High aggression is common and costly for mental health problems in young adults. Because communication is a universal part of social relationships, including conflicts with others, it could be a possible target for mediating aggression. This study aimed to evaluate whether the virtual reality (VR)-based communication modification program can be utilized for aggression management. Fifty-eight individuals with high aggression (n = 30) and with low aggression (n = 28) completed psychological assessments associated with aggression and functional communication, and they participated in the program, consisting of the three tasks: exploring the communication style, practicing functional communication, and expressing empathy. The participants’ selections and their visual analog scale scores, in response to questions in the tasks, were collected as behavioral data. Results indicated that the high aggression group selected blaming dysfunctional communication style more frequently than the low aggression group. VR-based parameters, expected to reflect dysfunctional communication-related characteristics, showed significantly different correlations with aggression-related traits between the two groups. These findings show that our program may accurately represent an individual’s aggressive traits and elicit the appropriate reaction.ope

Abnormalities of Inter- and Intra-Hemispheric Functional Connectivity in Autism Spectrum Disorders: A Study Using the Autism Brain Imaging Data Exchange Database.

Recently, the Autism Brain Imaging Data Exchange (ABIDE) project revealed decreased functional connectivity in individuals with Autism Spectrum Disorders (ASD) relative to the typically developing controls (TDCs). However, it is still questionable whether the source of functional under-connectivity in subjects with ASD is equally contributed by the ipsilateral and contralateral parts of the brain. In this study, we decomposed the inter- and intra-hemispheric regions and compared the functional connectivity density (FCD) between 458 subjects with ASD and 517 TDCs from the ABIDE database. We quantified the inter- and intra-hemispheric FCDs in the brain by counting the number of functional connectivity with all voxels in the opposite and same hemispheric brain regions, respectively. Relative to TDCs, both inter- and intra-hemispheric FCDs in the posterior cingulate cortex, lingual/parahippocampal gyrus, and postcentral gyrus were significantly decreased in subjects with ASD. Moreover, in the ASD group, the restricted and repetitive behavior subscore of the Autism Diagnostic Observation Schedule (ADOS-RRB) score showed significant negative correlations with the average inter-hemispheric FCD and contralateral FCD in the lingual/parahippocampal gyrus cluster. Also, the ADOS-RRB score showed significant negative correlations with the average contralateral FCD in the default mode network regions such as the posterior cingulate cortex and precuneus. Taken together, our findings imply that a deficit of non-social functioning processing in ASD such as restricted and repetitive behaviors and sensory hypersensitivity could be determined via both inter- and intra-hemispheric functional disconnections.ope

Rehabilitation of Bickerstaff's Brainstem Encephalitis with Guillain-Barre Syndrome -A case report-

We reported a 32-year-old man diagnosed as Bickerstaff’s brainstem encephalitis with Guillian-Barre syndrome. After plasmapheresis, his consciousness and respiratory function and motor strength improved. He was discharged without rehabilitation treatment and could perform activities of daily living independently on wheel chair level. For reducing cocontraction of lower extremity muscles, neuromuscular reeducation using EMG biofeedback was performed after admission. After a month of treatment, gait pattern was improved. He received rehabilitative managements such as pool therapy with gait training and improved to 4/5 grade at proximal lower extremities, but the endurance and the quality for his walking was poor because of the cocontraction of muscles in lower extremities. EMG biofeedback for the neuromuscular reeducation leading to each muscle’s isolated movements was done. After 2-month rehabilitation, he could walk over 20 meters even level independently without walking aids. This case could be a good model for the effective neuromuscular reeducation.ope

Managing Game-Related Conflict With Parents of Young Adults With Internet Gaming Disorder: Development and Feasibility Study of a Virtual Reality App

Background: Individuals with internet gaming disorder (IGD) report facing family conflicts repeatedly because of their excessive internet gaming. With recent advancements in virtual reality (VR) technology, VR therapy has emerged as a promising method for the management of various psychiatric disorders, including IGD. Given that several risk and protective factors for young people with addiction can be influenced by their interpersonal context, the potential utility of VR-based apps for managing family conflicts needs to be examined with reference to IGD management. However, few studies have evaluated potential treatment modules related to interpersonal conflict management, such as emotion regulation and taking the perspective of others. Objective: This preliminary study aims to examine the potential use of a VR-based app in the management of game-related conflicts with parents of young adults with IGD and matched controls. Methods: In total, 50 young male adults (24 with IGD and 26 controls) were recruited to participate in the study. We developed a virtual room where game-related family conflicts arise. Using this room, participants completed 2 VR tasks that required them to express anger and then implement coping skills (ie, risk/benefit assessment of stopping a game and taking parents' perspective) to deal with negative emotions in interpersonal conflict situations and to decrease one's gaming behavior. Results: The results showed that immersion in our VR app tended to provoke negative emotions in individuals with IGD. In addition, after a risk/benefit assessment of stopping a game, the response of stopping a game immediately increased significantly in the IGD group, suggesting that patients' gaming behavior could be changed using our VR program. Furthermore, in individuals with IGD, longer gaming hours were associated with a lower level of perceived usefulness of the coping skills training. Conclusions: The findings of this study indicate that our VR app may be useful for implementing more desirable behaviors and managing gaming-related family conflicts in individuals with IGD. Our VR app may offer an alternative for individuals with IGD to learn how a vicious cycle of conflicts is developed and to easily and safely assess their dysfunctional thoughts behind the conflicts (ie, perceived unreasonable risks of stopping a game and thoughts acting as a barrier to taking the perspective of others).ope