• Clinical and Experimental Pediatrics
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• 제57권11호
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• pp.496-499
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• 2014

Wernicke's encephalopathy is an acute neurological disorder characterized by mental confusion, oculomotor dysfunction, and ataxia. It has been reported in individuals with alcohol dependence, hyperemesis gravidarum, and prolonged parenteral nutrition without vitamin supplementation. Here we present the case of a 13-year-old male patient with neuroblastoma and a history of poor oral intake and nausea for 3 months. After admission, he showed gait disturbances, nystagmus, and excessive dizziness; his mental state, however, indicated he was alert, which did not fit the classical triad of Wernicke's encephalopathy. A diagnosis of Wernicke's encephalopathy was made only after brain magnetic resonance imaging and serum thiamine level analyses were performed. The patient's symptoms remained after 5 days of treatment with 100-mg thiamine once daily; thus, we increased the dosage to 500 mg 3 times daily, 1,500 mg per day. His symptoms then improved after 20 days of replacement therapy. This case report describes a pediatric patient who was promptly diagnosed with Wernicke's encephalopathy, despite only 2 suspicious symptoms, and who completely recovered after high doses of thiamine were given intravenously.

• 대한약침학회지
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• 제19권1호
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• pp.28-36
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• 2016

Objectives: The purpose of this study is to achieve a vision for autistic children and their parents aimed at generating interest in ideas such as "Sanitas Per Aquam" (SPA), massage and music therapy, which has begun to have widespread use and to attract attention. Methods: This cross-sectional, descriptive study was carried out with autistic children and their parents from February to April 2015 in $Mu{\breve{g}}la$, Turkey. The study was began by interviewing experts in the field and by developing a suitable assessment questionnaire. In order to direct the flow of conversation between the researchers and the autisitc children and their parents, the researchers conducted semi-structured face to face interviews in a form that had been determined by using reports in the literature and the opinions of experts in the field. Results: Forty two boys (84%) and eight girls (16%) with autism participated in our study. Children in the 0 - 7 age group spent long time in the bathroom (P = 0.001). Boys liked to be hugged more than girls (P = 0.01). Children ages 0 - 7 years liked bright lighting while those 15 years of age and older liked gloomy lighting (P = 0.009). Except for these statistically significant sex- and age-related differences, no other statistically significant differences were noted in the parameters of this study. Although the result was not statistically significant, more children with mild autism disorder obeyed commands like inhale or exhale (P = 0.051). Conclusion: Treatment for autism spectrum disorders is not yet fully possible, so many studies are being done to alleviate some symptoms and to improve the quality of life for individuals with autism and their families. As a result of our study, whether touching the areas the children want touched and listening to their favorite music are required to stimulate the brain remain as questions in our minds.

• Journal of Genetic Medicine
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• 제18권2호
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• pp.127-131
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• 2021

Autosomal recessive spinocerebellar ataxia 20 (SCAR20; OMIM #616354) is a recently described disorder that is characterized by ataxia, intellectual disability, cerebellar atrophy, macrocephaly, coarse face, and absent speech. It is caused by loss-of-function mutations in SNX14. To date, all cases with homozygous pathogenic variants have been identified in consanguineous families. This report describes the first Korean cases of SCAR20 family caused by homozygous variants in SNX14. Two siblings were referred to our clinic because of severe global developmental delay. They presented similar facial features, including a high forehead, long philtrum, thick lips, telecanthus, depressed nasal bridge, and broad base of the nose. Because the older sibling was unable to walk and newly developed ataxia, repeated brain magnetic resonance imaging (MRI) was performed at the age of 4 years, revealing progressive cerebellar atrophy compared with MRI performed at the age of 2 years. The younger sibling's MRI revealed a normal cerebellum at the age of 2 years. Whole-exome sequencing was performed, and homozygous variants, such as c.2746-2A>G, were identified in SNX14 from the older sibling. Sanger sequencing confirmed homozygous SNX14 variants in the two siblings as well as a heterozygous variant in both parents. This report extends our knowledge of the phenotypic and mutational spectrum of SCAR20. We also highlight the importance of deep phenotyping for the diagnosis of SCAR20 in individuals with developmental delay, ataxia, cerebellar atrophy, and distinct facial features.

• 한국방사선학회논문지
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• 제18권2호
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• pp.73-81
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• 2024

본 연구는 기분 장애(mood disorder) 환자들과 정상 대조군간의 대뇌 피질 두께를 측정 하여 구조적 이상을 비교하였다. 2020년 9월부터 2022년 8월까지 경상남도 양산 P 병원 정신건강의학과에서 기분 장애 진단을 받은 44명과 이상 병변이 없는 정상인 59명을 대상으로 후향적 연구를 시행하였다. 자기공명영상(MRI) 검사 후 획득한 3D-T1 MPRAGE 영상을 이용하였고, FreeSurfer 소프트웨어를 사용하여 대뇌 피질 두께를 측정하였다. 통계분석은 독립표본 t-검정을 이용하여 두 그룹간 평균의 차이를 측정하고, cohen's d 검정을 통해 두 그룹간 평균 차이의 크기를 평가하였다. 또한, 측정된 평균 피질 두께와 환자의 양성·음성증상(Positive and Negative Syndrome Scale, PANSS)간의 상관관계를 분석하였다. 기분장애 환자는 정상대조군에 비해 양측 상전두이랑(both superior frontal), 주둥이 중전두이랑(both rostral middle frontal), 꼬리 중전두이랑(both caudal middle frontal), 하전두이랑 주름 세곳(both pars opercularis, pars orbitals, pars triangularis), 상측두이랑(both superior temporal), 하측두이랑(both inferior temporal), 외측안와전두피질(both lateral orbito frontal), 내측안와전두피질(both medial orbito frontal), 방추형이랑(both fusiform), 후대상피질(both posterior cingulate), 대상이랑의 협부(both isthmus cingulate), 상두정수리소엽(both superior parietal), 하두정엽(both inferior parietal), 변연상이랑(both supramarginal), 좌측 후중심이랑(left post central), 우측 상부측두고랑(right bank of the superior temporal sulcus), 중측두이랑(right middle temporal), 전대상피질(right rostral anterior cingulate), 뇌섬엽(right insula)의 두께가 유의미하게 감소하였다(p<0.05). 그 중 평균 차이의 크기(cohen's d)가 큰 영역은 좌측 fusiform (d=0.82), pars opercularis (d=0.94), superior frontal (d=0.88), 우측 lateral orbito frontal (d=0.85), pars orbitalis (d=0.89) 로 나타났다. 또한, PANSS와 양측 대뇌 피질의 평균 두께는 약한 음의 상관관계(left hemisphere r=-0.234, right hemisphere r=-0.230)를 나타내었다. 이러한 연구의 결과는 정상인과 비교하여 기분장애 환자의 피질 두께 감소영역을 확인하였고 질환의 증상 정도와 피질 두께 변화의 관련성을 확인하는 데 도움이 될 것으로 기대된다.

• 디지털융복합연구
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• 제11권11호
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• pp.753-766
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• 2013

오늘날 인류의 문명은 빠른 속도로 발전해 가고 있음에도 불구하고 인간과 삶의 환경의 모습은 더 행복해지고 있는 것처럼 보이지 않는다. 문명이 인간의 정신, 즉 마음의 산물이고 마음은 육체뿐만 아니라 사회 및 자연환경과 연결되어 서로 상호작용하며 변화되어 간다는 점에서 오늘날 인간의 마음이 바람직한 방향으로 변화되고 있다고 보기 어렵다. 이 논문은 불행한 현상들의 근원으로서의 인간의 마음을 이해하기 위해 인간의 모든 다양한 마음이 생성되어 나오는 두뇌 인지 메커니즘을 통해 본연의 마음이 무엇이고 또 그것이 어떻게 변화되어 가는지, 마음의 전체적 변화 패러다임과 그 원인을 밝혔다. 논문의 결과에 따르면 자유롭고 평온한 인간 본연의 처음 마음은 인지 근원지의 구성요소 중 하나인 내부 인지 공간의 진화에 따라 중간 마음을 거쳐, 극단적으로 내부 인지 공간 안에 갇힌 자폐상태가 되어 감각 기억에 극단적으로 강하게 구속되고(극단적 집착) 내적으로만 사고(극단적 번뇌)하는 끝 마음으로 변화할 수 있다. 오늘날 지나친 문명 발달을 포함한 인간, 사회, 자연환경의 부정적인 변화의 모습들은 모두 이런 마음의 변화과정의 산물로 해석된다. 이 논문은 본연의 처음 마음, 변화되고 있는 중간 마음, 극단적인 모습의 끝마음의 특징들을 기술하고 현재 개인들의 마음이 어디에 있으며 어디로 변화해가고 있는지를 논의하며, 마지막으로 두뇌 인지 메카니즘을 통해 인간의 본연의 첫 마음을 회복할 수 있는 구체적인 방법을 제시하고 있다.

• 대한간호학회지
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• 제30권6호
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• pp.1437-1454
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• 2000

This study was designed to identify the attitudes of the people on organ donation and transplantation. The purpose of this study was to provide data to help inspire organ donation, and promote registration yield so donor candidates will have more favorable recipients through Q-methodology. A Q-sample was developed through a review of the literature and interviews. Thirty-three statements made up the final Q-sample. The P-sample consisted of twenty-eight subjects, excluding chronic organic disorder. The Q-sorts by each subject were coded and analyzed with the QUNAL computer program. The results were as follows: This study discovered five different types of organ donation and transplantation of twenty- eight subjects. Type I is 'utilitarian.' The people of this type consider human life very valuable and they recognize that organ transplantation is an affirmative medicine that should be performed to extend human life. They believe that are saving others' lives by donating organs. Type II is 'sardonist.' The people of this type approve of organ transplantation usefulness, but they have no intention of participating in the program because of it may trample on human rights. Type III is 'individualist.' The people of this type consider it proper for the activation of organ transplantation by the legal system. They believe that organ donation a valuable too, but needs support through social benefits to donors. Yet, they have not intention of doing what they propose. Type IV is 'familist.' The people of this type have strong attachments to life but they think that organ donation and transplantation should be done between within a family. Type IV is disposition of family intensive consideration rather than altruistic and utilitarianism. Type V is 'deontologist.' The people of this type recognize the benefits of transplantation, but have a negative opinion of activation. They worry about ethical and social problems occurring in the development of modern medicine. They believe that death is the only natural end to life, so they have strong negative opinions of euthanasia and brain death compared to other types. They regard transplantation to be a non-human behavior, because it involves a removing organs and breaking the boundary of death. The findings of this study are only preliminary and serve as a baseline to understanding the subjectivity of individuals on organ donation and transplantation. Therefore, the subjectivity of the five types will be applied to formulate the educational programs and public relations strategies for organ donation because the public's awareness toward organ donation is closely related to their values, beliefs, and attitudes.