• Journal of the Korean Child Neurology Society
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• 제24권3호
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• pp.71-83
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• 2016

X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ATP binding cassette subfamily D member 1 (ABCD1), a gene that encodes peroxisomal membrane located on ABC half-transporter named adrenoleukodystrophy protein (ALDP). X-ALD is characterized by a highly variable clinical spectrum, including progressive cerebral type, adrenomyeloneuropathy, and addison-only phenotype. No genotype/phenotype correlation has been established. Thus, unidentified modifier genes and other co-factors are speculated to modulate the phenotypic variation and disease severity. Recent advanced sequencing methods and reprogramming technologies not only offer an affordable and applicable approach to investigate the pathophysiological mechanisms of adrenoleukodystrophy, but also provide means to develop therapy. A causal therapy of X-ALD is lacking. Lorenzo's oil therapy is recommended for asymptomatic boys, but the longest study found that the oil was not beneficial at all to symptomatic X-ALD patients. Hematopoietic stem cell therapy has a relevant chance of success when performed during this early stage of cerebral type X-ALD. Recently, it has been insisted that lentiviral-mediated gene therapy of hematopoietic stem cells can provide clinical benefits in X-ALD. This review describes current knowledge on the clinical presentation, pathogenesis, diagnosis and management of X- ALD.

• Journal of Hospice and Palliative Care
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• 제22권3호
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• pp.105-116
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• 2019

Purpose: Pediatric palliative care (PPC) is emphasized as standard care for children with life-limiting conditions to improve the quality of life. In Korea, a government-funded pilot program was launched only in July 2018. Given that, this study examined various PPC delivery models in other countries to refine the PPC model in Korea. Methods: Target countries were selected based on the level of PPC provided there: the United Kingdom, the United States, Japan, and Singapore. Relevant literature, websites, and consultations from specialists were analyzed by the integrative review method. Literature search was conducted in PubMed, Google, and Google Scholar, focusing publications since 1990, and on-site visits were conducted to ensure reliability. Analysis was performed on each country's process to develop its PPC scheme, policy, funding model, target population, delivery system, and quality assurance. Results: In the United Kingdom, community-based free-standing facilities work closely with primary care and exchange advice and referrals with specialized PPC consult teams of children's hospitals. In the United States, hospital-based specialized PPC consult teams set up networks with hospice agencies and home healthcare agencies and provide PPC by designating care coordinators. In Japan, palliative care is provided through several services such as palliative care for cancer patients, home care for technology-dependent patients, other support services for children with disabilities and/or chronic conditions. In Singapore, a home-based PPC association plays a pivotal role in providing PPC by taking advantage of geographic accessibility and cooperating with tertiary hospitals. Conclusion: It is warranted to identify unmet needs and establish an appropriate PPD model to provide need-based individualized care and optimize PPC in South Korea.

• Journal of the Architectural Institute of Korea Planning & Design
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• 제33권12호
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• pp.41-52
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• 2017

This study investigates the waiting and resting behaviors of children within a restorative healthcare facility design. In particular, the aim is to compare children with and without disabilities and reveal similarities and differences in terms of their behavioral characteristics and uses of design facilities, related to positive distraction, for restoration in the hospital. Three major common spaces for outpatients in S children's hospital in Seoul were examined including the main lobby and two waiting and resting spaces in the pediatric and rehabilitation medicine departments, respectively. A total of 155 children under the age of 12-67 with physical disabilities and 88 without-were observed while they waited and rested at the three spaces before or after doctors' examination. Basic demographic information and waiting and resting behavioral characteristics were compared between the two groups. The results indicated that the disabled children were more restricted in terms of space, facilities used, and social behaviors. However, regardless of disabilities, the children showed more positive distractions related to cognitive and social behaviors in areas where restorative design elements such as an aquarium, garden, or visual images were available. Based on the results, design implications were discussed to strengthen positive distraction behaviors in children with and without disabilities and to foster the restorative quality of the spaces for waiting and resting in the children's hospital.

• Journal of the Korean Society of Radiology
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• 제81권6호
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• pp.1412-1423
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• 2020

Purpose Some patients with neonatal seizures show diffuse, symmetric diffusion-restricted lesions in the cerebral white matter. The aim of this study was to describe clinical and imaging findings of patients with neonatal seizures who had diffuse, symmetric diffusion-restricted lesions without any structural or metabolic etiology. Materials and Methods A total of 56 neonates aged less than 1 week underwent brain magnetic resonance imaging (MRI) for evaluation of seizures from November 2008 to February 2017. After excluding 43 patients, 13 patients showed diffuse white matter abnormality on diffusion-weighted imaging. Initial and follow-up clinical and MRI findings were analyzed retrospectively. Results All 13 patients were born at full term. Among the ten patients who underwent a stool test for viruses, six were positive for rotavirus and one for astrovirus. MRI revealed diffuse, symmetric diffusion-restricted lesions distributed along the cerebral white matter, thalami, and midbrain variably. Conclusion Diffuse, symmetric diffusion-restricted lesions involving the cerebral white matter can be seen in patients with neonatal seizures without any structural or metabolic etiology. Rotavirus is commonly but not exclusively detected in these patients. Nevertheless, viral infection-associated encephalopathy should be considered for patients with characteristic clinical and MRI findings.

• 한국방재학회:학술대회논문집
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• 한국방재학회 2010년도 정기 학술발표대회
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• pp.33.1-33.1
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• 2010

불특정다수의 사람들이 이용하는 숙박계시설이며, 자립피난이 곤란한 피난약자에 해당하는 환자 및 노약자, 임산부, 어린이가 대다수 이용하는 병원은 피난안전상 매우 불리한 용도의 건축물이라 할 수 있다. 따라서 본 연구에서는 실재병원의 건립 당시 평면계획과 실재 사용 중 평면을 조사하고, 이를 대상으로 본 연구의 선행연구에서 발표된 피난안전성의 평가법에 적용하여, 병원 평면의 변화에 따른 피난안전성의 변화를 정량적으로 나타내는 것으로, 불가피한 평면의 변경 시에 참고자료로 활용 될 수 있는 근거를 제시 하고자 한다.

• Journal of the Korean Child Neurology Society
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• 제26권4호
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• pp.197-204
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• 2018

Purpose: West syndrome is a severe form of age-specific epilepsy that typically affects infants younger than 2 years of age with mitochondrial disease. We aimed to examine age-specific characteristics of the syndrome in these patients. Methods: We retrospectively analyzed 54 patients with West syndrome diagnosed with mitochondrial disease between March 2006 and March 2016. We compared treatment strategies and diagnostic and clinical variables between patients with early-onset (<6 months of age) and late-onset (${\geq}6$ months of age) seizures. Results: Seizure was the first symptom in 30 (90.9%) and 13 (65%) patients of the early-onset and late-onset groups, respectively (P=0.046). Delayed development was observed in 3 (9.1%) and 7 (35%) patients of the early-onset and late-onset groups, respectively (P=0.023). Lactate levels were normal in 17 patients (55%) of the early-onset group and 5 (25%) of the late-onset group (P=0.036), while initial brain magnetic resonance imaging (MRI) findings were normal in 23 (67.6%) and 8 (40%) patients of the early-onset and late-onset groups, respectively. Final MRI findings were abnormal in 32 patients (94.1%) of the early-onset group and 18 (90%) of the late-onset group (P=0.036). Although ketogenic diets reduced seizure frequency in both groups, the difference was not significant. Conclusion: There is no significant difference in epilepsy-related variables when patients are divided based on a cut-off age of 6 months. However, differences in the first symptom at onset and MRI findings were observed. Although lactate levels were not of significant diagnostic value in the early-onset group, they may be in the late-onset group.

• Korean Architects
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• 7호통권435호
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• pp.78-89
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• 2005

• Hospice
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• 통권74호
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• pp.2-8
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• 2022

• Journal of the korean academy of Pediatric Dentistry
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• 제48권2호
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• pp.151-159
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• 2021

Since January 2019, insurance coverage for caries treatment of permanent teeth using composite resin in children aged 12 and under has started in South Korea. The purpose of this study was to compare the pattern of permanent molar composite resin restoration aged 12 and under before and after the insurance coverage from January 2009 to March 2020 in the Department of Pediatric Dentistry at Kyung Hee University Dental Hospital at Gangdong. Since the insurance coverage was started in 2019, the frequency of permanent molar composite resin restoration aged 12 and under has increased more than twice. There was a significant change in frequency of resin restoration by shape of cavity comparing before and after the insurance coverage, whereas there was no significant difference in changes by patient age, gender and position of tooth. As accessibility to the permanent tooth composite resin restoration is increased by the insurance coverage, which shows a fair survival rate, it is expected that it could be able to secure oral health in the early permanent dentition aged 12 and under.

• Korean Institute of Interior Design Journal
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• 제25권1호
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• pp.192-200
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• 2016

This study aims to design user-oriented children's hospital by examining the user needs, especially the mothers of child inpatients and the nurses. The subjects participated in a questionnaire survey including the user's characteristics, awareness of patient's room, the preference on ward size, demands, satisfaction and hospital environment assessment. The survey was conducted of the mothers of child inpatients and the nurses in A children's hospital, and the data were analyzed by the SPSS WIN 18.0 Version software. A total of 115 copies of the questionnaire were finally analyzed. The results and conclusions are as follows. 1) The mothers' demand on family-centered space and private spaces were higher than the nurses. 2) The mothers preferred 1-bed-room to 4-bed-room due to safety and privacy. 3) The items of hospital environment assessment was categorized into four factors; 'Aesthetics', 'Accessibility', 'Comfort', and 'Lighting'. The most positive factor was 'Aesthetics', whereas 'Comfort' was the negative factor. 4) The mother's satisfaction was lower than the nurse's. The most influential factors on the satisfaction was 'Accessibility'. To improve the satisfaction of the mothers of child inpatients and the nurses, safety, privacy, accessibility should be considered.