• Genomics & Informatics
• /
• 제8권2호
• /
• pp.76-80
• /
• 2010

Although autism spectrum disorder (ASD) has been thought to have a substantial genetic background, major contributing genes have yet to be identified or successfully replicated. Immunological dysfunction has been suggested to be associated with ASD, and T cell-mediated immunity was considered important for the development of ASD. In this study, we analyzed 163 ASD subjects and 97 normal controls by genomic quantitative PCR to evaluate the association between the copy number variation of the 7q34 locus, harboring the TCRB gene, and ASDs. As a result, there was no significant difference of the frequency distribution of TCRB copy numbers between ASD cases and normal controls. TCRB gene copy numbers ranged from 0 to 5 copies, and the frequency distribution of each copy number was similar between the two groups. The proportion of the individuals with <2 copies of TCRB was 52.8% (86/163) in ASD cases and 57.1% (52/91) in the control group (p=0.44). The proportion of individuals with >2 copies of TCRB was 11.7% (19/163) in ASD cases and 12.1% (11/91) in the control group (p=0.68). After the effects of sex were adjusted by logistic regression, ORs for individuals with <2 copies or >2 copies showed no significant difference compared with the diploid copy number as reference (n=2). Although we could not see the positive association, our results will be valuable information for mining ASD-associated genes and for exploring the role of T cell immunity further in the pathogenesis of ASD.

• 융합정보논문지
• /
• 제8권3호
• /
• pp.169-174
• /
• 2018

오늘날 세계는 네 번째 산업혁명을 일으킬 신기술의 시대를 맞이하였고, 이는 'Industry 4.0'으로 통한다. Industry 4.0은 산업을 구성하는 다양한 요소가 서로 의사소통을 할 수 있는 스마트 체인을 구축하는데 기반을 두기 때문에 경제, 사회, 기술, 법률 등 다양한 측면에서 높은 불확실성이 존재한다. 위와 같은 사실을 바탕으로 본 논문에서는 Industry 4.0의 기본개념 수립 및 기능수행 시 발생하는 부정적 측면을 최소화시키기 위하여 선행연구자들의 연구를 바탕으로 한국 중소제조기업의 대응방안을 찾기 위한 연구를 하였다. 그 결과 Industry 4.0의 불확실성을 다양한 측면에서 정확하게 파악하고 대처하기 위한 노력을 한다면, Industry 4.0의 심장부에 해당하는 스마트 공장을 통해 기업의 영업이익 증대 및 국가의 경제성장을 이루는데 도움이 될 것이다.

• Genes and Genomics
• /
• 제40권12호
• /
• pp.1269-1277
• /
• 2018

Bcl2-associated athanogene 3 (BAG3) mutations have been reported to cause the myofibrillar myopathy (MFM) which shows progressive limb muscle weakness, respiratory failure, and cardiomyopathy. Myopathy patients with BAG3 mutation are very rare. We described a patient showing atypical phenotypes. We aimed to find the genetic cause of Korean patients with sensory motor polyneuropathy, myopathy and rigid spine. We performed whole exome sequencing (WES) with 423 patients with sensory motor polyneuropathy. We found BAG3 mutation in one patient with neuropathy, myopathy and rigid spine syndrome, and performed electrophysiological study, whole body MRI and muscle biopsy on the patient. A de novo heterozygous p.Pro209Leu (c.626C>T) mutation in BAG3 was identified in a female myopathy. She first noticed a gait disturbance and spinal rigidity at the age of 11, and serum creatine kinase levels were elevated ninefolds than normal. She showed an axonal sensory-motor polyneuropathy like Charcot-Marie-Tooth disease (CMT), myopathy, rigid spine and respiratory dysfunction; however, she did not show any cardiomyopathy, which is a common symptom in BAG3 mutation. Lower limb MRI and whole spine MRI showed bilateral symmetric fatty atrophy of muscles at the lower limb and paraspinal muscles. When we track traceable MRI 1 year later, the muscle damage progressed slowly. As far as our knowledge, this is the first Korean patient with BAG3 mutation. We described a BAG3 mutation patient with atypical phenotype of CMT and myopathy, and those are expected to broaden the clinical spectrum of the disease and help to diagnose it.

• 대한정형도수물리치료학회지
• /
• 제24권2호
• /
• pp.75-81
• /
• 2018

Background: The purpose of this study was to investigate the effect of various relaxation techniques on various dysfunction problems caused by shortening of the sagittal muscles. Method: The subjects were 44(18 males, 26 females). The subjects were composed of 3 groups. The experimental group consisted of 14 patients with proprioceptive neuromuscular facilitation stretching (PNF) technique, control group A 15 patients with self myofacial release (SMR) ball exercise, and control group B with 15 patients with Sling exercise. After 3 weeks of relaxation on the hamstring muscle, the length of the hamstring muscle before and after the intervention was compared. Results: The results of relaxation exercise of the snake muscles applied to passive PNF group, SMR ball group, and Sling relaxation group are as follows. 1. In the passive PNF group, the muscle length of the hamstring muscle was significantly increased after the intervention. 2. The muscle length of the hamstring muscle was significantly increased after the intervention in the SMR ball group. 3. Sling relaxation group significantly increased the muscle length of the hamstring muscle after sling exercise intervention. 4. Passive PNF group showed the greatest change in muscle length before and after intervention than SMR ball group and Sling relaxation group. Conclusion: Passive PNF relaxation therapy, SMR ball relaxation therapy, and Sling relaxation therapy applied to the hamstring muscle were effective in increasing muscle length of the hamstring muscle. PNF relaxation therapy showed the most significant effect after 3 weeks intervention.

• 인터넷정보학회논문지
• /
• 제20권4호
• /
• pp.47-53
• /
• 2019

일반적으로 어지럼증은 여러 가지 복합적인 원인에 의해서 발생하지만 그 중에서 신경계에 속하는 전정계통의 기능 장애에 의한 증상이 가장 환자에게 심한 증상으로 다가오며, 구역질과 구토를 동반하게 된다. 이러한 어지럼증에 대한 치료는 약물요법, 수술요법, 재활치료 등이 있으며, 약물요법이나 수술요법은 대체적으로 후유증의 위험 때문에 재활치료요법인 전정재활훈련을 많이 시행하고 있다. 전정재활훈련은 안구훈련, 자세안정훈련, 보행훈련 등이 있는데 그 중 보행훈련은 의사 또는 전문치료사의 감독하에 일정한 공간에서 진행되므로 시간적, 공간적 부담이 가중되어 환자들이 훈련을 진행기 불편한 단점을 가진다. 이를 해결하고자 본 논문에서는 증강현실 기술을 활용해 사용자가 직접 보행재활훈련을 진행 할 수 있는 보행훈련 콘텐츠를 구현하였다. 추후 어지럼증 환자를 대상으로 한 임상시험을 통해 의료 환경에서 사용 가능한 어지럼증 재활 콘텐츠로 활용 가능할 것으로 기대한다.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• 제25권1호
• /
• pp.1-12
• /
• 2022

Inflammation plays an important role in the outcome of patients with cystic fibrosis (CF). It may develop due to cystic fibrosis transmembrane conductance regulator protein dysfunction, pancreatic insufficiency, or prolonged pulmonary infection. Fecal calprotectin (FC) has been used as a noninvasive method to detect inflammation. Therefore, the aim of the current meta-analysis was to investigate the relationship between FC and phenotype severity in patients with CF. In this study, searches were conducted in PubMed, Science Direct, Scopus, and Embase databases up to August 2021 using terms such as "cystic fibrosis," "intestine," "calprotectin," and "inflammation." Only articles published in English and human studies were selected. The primary outcome was the level of FC in patients with CF. The secondary outcome was the relationship between FC and clinical severity. Statistical analysis was performed using Comprehensive Meta-Analysis software. Of the initial 303 references, only six articles met the inclusion criteria. The mean (95% confidence interval [CI]) level of FC was 256.5 mg/dL (114.1-398.9). FC levels were significantly associated with pancreatic insufficiency (mean, 243.02; 95% CI, 74.3 to 411.6; p=0.005; I²=0), pulmonary function (r=-0.39; 95% CI, -0.58 to -0.15; p=0.002; I²=60%), body mass index (r=-0.514; 95% CI, 0.26 to 0.69; p<0.001; I²=0%), and Pseudomonas colonization (mean, 174.77; 95% CI, 12.5 to 337.02; p=0.035; I²=71%). While FC is a reliable noninvasive marker for detecting gastrointestinal inflammation, it is also correlated with the severity of the disease in patients with CF.

• 대한정형도수물리치료학회지
• /
• 제28권3호
• /
• pp.41-49
• /
• 2022

Background: In patients with forward head posture (FHP), the head is positioned forward, causing increased tension in the muscles and structures of the head, neck, and shoulders. This can result in joint dysfunction that may lead to abnormal afferent information. The purpose of this study was to investigate the effect on foot pressure through the isometric hip abduction (IHA) bridge exercise using elastic bands in patients with FHP. Methods: Twenty patients with FHP were randomly assigned to a study group that applied joint mobilization, soft tissue mobilization, a deep neck flexor strengthening exercise, and the IHA bridge exercise using an elastic band. A control group was also constituted, and members were given joint mobilization, soft tissue mobilization therapies, and the deep neck flexor strengthening exercise. Ten patients were assigned to each group. The static foot pressure and dynamic foot pressure of each patient were measured before and after the intervention, and the interventions for each group were applied twice a week for 4 weeks. Results: Both the study group and the control group showed significant differences in static and dynamic foot pressure before and after the interventions (p<.05). There were no significant differences in foot pressure between the study and control groups. Conclusion: : The results of this study revealed that there were no significant differences between the group doing the IHA bridge exercise using the elastic band and the control group. However, the intervention methods applied to both the groups were effective in improving the body center control of FHP patients.

• The Korean Journal of Physiology and Pharmacology
• /
• 제27권1호
• /
• pp.49-59
• /
• 2023

Metabolic syndrome (MetS) involves multi-factorial conditions linked to an elevated risk of type 2 diabetes mellitus and cardiovascular disease. Pre-metabolic syndrome (pre-MetS) possesses two MetS components but does not meet the MetS diagnostic criteria. Although cardiac autonomic derangements are evident in MetS, there is little information on their status in pre-MetS subjects. In this study, we sought to examine cardiac autonomic functions in pre-MetS and to determine which MetS component is more responsible for impaired cardiac autonomic functions. A total of 182 subjects were recruited and divided into healthy controls (n=89) and pre-MetS subjects (n=93) based on inclusion and exclusion criteria. We performed biochemical profiles on fasting blood samples to detect pre-MetS. Using standardized protocols, we evaluated anthropometric data, body composition, baroreflex sensitivity (BRS), heart rate variability (HRV), and autonomic function tests (AFTs). We further examined these parameters in pre-MetS subjects for each MetS component. Compared to healthy controls, we observed a significant cardiac autonomic dysfunction (CAD) through reduced BRS, lower overall HRV, and altered AFT parameters in pre-MetS subjects, accompanied by markedly varied anthropometric, clinical and biochemical parameters. Furthermore, all examined BRS, HRV, and AFT parameters exhibited an abnormal trend and significant correlation toward hyperglycemia. This study demonstrates CAD in pre-MetS subjects with reduced BRS, lower overall HRV, and altered AFT parameters. Hyperglycemia was considered an independent determinant of alterations in all the examined BRS, HRV, and AFT parameters. Thus, hyperglycemia may contribute to CAD in pre-MetS subjects before progressing to MetS.

• 한방안이비인후피부과학회지
• /
• 제36권2호
• /
• pp.1-9
• /
• 2023

Objectives : This study used a network pharmacology approach to analyze the treatment mechanisms of Yijin-tang on Meniere's disease, and comparative analysis the treatment mechanisms of drugs recommended in the Meniere's disease treatment guidelines. Methods : We collected information on the recommended drugs from the Meniere's disease treatment guidelines and their target proteins were screened via the STITCH database. The intersection targets were obtained through Venny 2.1.0. Gene Ontology(GO) analysis and Kyoto Encyclopedia of Genes and Genomes(KEGG) pathway analysis were performed using ClueGO. Results : The 7 proteins(TNF, CASP9, PARP1, CCL2, CFTR, NOS2, NOS1) were associated with both Yijin-tang and Meniere's disease related genes. The 10 proteins(AQP2, KCNE1, AQP1, AVP, ACE, HRH1, HRH3, NOS1, CA1, CFTR) were associated with both the recommended drugs in the guidelines and Meniere's disease related genes. The 2 proteins(CFTR, NOS1) were common across all three groups. Further, GO/KEGG pathway analysis of the collected proteins revealed that the common mechanisms of action between Yijin-tang and the recommended drugs in the guidelines were related to pathways involving immune dysfunction and disturbances in lymphatic fluid homeostasis. In addition, the recommended drugs in the guidelines appeared to act through mechanisms that improve blood flow through vasodilation. Conclusions : Pharmacological network analysis can help to explain the treatment mechanisms of Yijin-tang on Meniere's disease.

• 한국심리학회지 : 문화 및 사회문제
• /
• 제24권2호
• /
• pp.193-220
• /
• 2018

이 연구는 웰빙 차원에서 역기능적인 종교성을 질적으로 분석하는 것을 목적으로 하였다. 질적 분석을 위한 대상자는 종교인(성직자) 6명과 신앙인 6명이었다. 종교인의 경우 개신교 목회자 3명, 불교 종교인 2명, 원불교 종교인 1명이었고, 신앙인의 경우는 개신교 신앙인 2명, 천주교 신앙인 2인, 불교 신앙인 2인이었다. 종교인 6명 중에 한 명이 여성(불교)이었으며, 신앙인 6명 중에는 3명이 여성이었다. 본 연구에서 목적을 성취하기 위해 이야기식 인터뷰 방식과 Giorgi가 제시한 현상학적 분석방법을 이용하였다. 참여자들의 진술을 분석한 결과 22개의 주제가 도출되었고, 그 주제를 바탕으로 중심의미를 파악한 결과 9개로 구분할 수 있었다. 중심의미로는 보상추구적 종교성, 권력지향적 종교성, 이기적 종교성, 맹목적 종교성, 비사회적 종교성, 비실천적 종교성, 무체험적 종교성, 정서문제성 종교성 및 인지문제성 종교성이 도출되었다. 도출된 주제와 중심의미를 바탕으로 척도개발과 같은 추후 연구와 신앙인의 정신건강 증진을 위한 전략을 논의하고 제언하였다.