• Journal of The Korean Society of Inherited Metabolic disease
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• v.21 no.1
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• pp.7-14
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• 2021

Purpose: Pseudohypoparathyroidism (PHP) is caused by genetic and epigenetic alteration in the GNAS locus, and characterized by the resistance to multiple hormones and the Albright's hereditary osteodystrophy (AHO) phenotype. This study investigated the phenotypic characteristics and molecular features of PHP. Methods: Eight patients who diagnosed as PHP were enrolled at Pusan National University Children's hospital and clinical features, biochemical and genetic findings were retrospectively reviewed. Results: Of a total of 8 patients, 5 were diagnosed with PHP1a, and 3 were diagnosed with PHP1b. Patients with PHP1a had three different mutations in the GNAS gene, and patients with PHPIb had imprinting defect in differentially methylated regions (DMRs) of the GNAS locus. Two novel GNAS variants were identified in patients with PHP1a, including c.313-2A>T and c.1094G>A. All patients with PHP1a displayed AHO features; short stature (80%), brachydactyly (80%), a round face (80%), obesity (40%), heterotopic ossification (60%), and intellectual disability (60%), whereas only one patient (33.3%) with PHP1b showed AHO feature such as a round face. When phenotypic features between PHP1a and PHP1b patients were compared, patients with PHP1b showed a tendency of higher current height standard deviation scores (SDS) compared to patients with PHP1a, (-3.2±2.1 vs.-1.1±0.8; P=0.06) Conclusions: This study summarizes the phenotypic and genetic features of the PHP patients. Although we found considerable clinical overlap between PHP1a and PHP1b, further long-term follow-up is needed to evaluate the growth and development of children with PHP, as well as the effects of end-organ resistances to endocrine hormones.

• Journal of The Korea Institute of Healthcare Architecture
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• v.8 no.2
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• pp.61-66
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• 2002

서울대학병원의 마스터플랜 재구성에 대한 프로젝트로서 기존의 환경에 대한 조사와 분석 그리고 외국사례와의 비교를 통해 앞으로 서울대학병원이 나아가야 할 목표 및 방향을 단기(1-2년), 중기(2-5년), 장기(10년 이상)계획으로 나누어 각 단계별 항목들을 분석, 구체화하였다. 단계계획에서는 응급실의 확장과 어린이 병원증축에 대한 내용을 제시하였고, 중기계획에서는 외래진료센타(ambulatory care center)에 대한 공간구성을 통하여 기존 마스터플랜이 나아가야 할 방향을 제시하였다. 장기계획에서는 어린이 병원의 이전, 캠퍼스 기능구획을 연구, 교육, 병원으로의 분류, 공급시설의 개선과정을 제시하였다. 이 연구를 통하여, 한국의 병원시장에 대한 경향을 다음과 같이 분석할 수 있었다. 1) 증축공간이 부족한 도심에 밀집한 한국병원의 경우, 리노베이션을 통한 마스터플랜은 다양한 시설물을 개선, 관리, 통합할 수 있는 방법이다. 2) 편리성, 환자의 프라이버시, 전문성, 방문자 오락시설, 통합적인 치료환경의 구축이다. 3) 예방 의약품의 증가, 건강센타, 건강중심의 프로그램, 확장된 진료시설 등 건강유지분야의 개발이다. 마스터 플랜은 계속 진행되는 과정의 일부분이며, 변화하는 조건 속에서 적용되어, 수정되어져야 할 것이다.

• Pediatric Infection and Vaccine
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• v.28 no.2
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• pp.118-123
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• 2021

Culture tests are very important in choosing the appropriate antibiotics for bacterial infections. In some cases, bacteria that could not be identified in standard culture bottles could be detected using blood culture bottles. A previously healthy 13-year-old boy visited our emergency room. He experienced pain, redness, and hardness of periumbilical skin and a fever for five days. There was no history of abdominal surgery and penetrating trauma. Computed tomography showed abscess with cellulitis at the periumbilical soft tissue with no congenital anomaly. Ultrasonography-guided aspiration was performed, and about 8.5 mL of the purulent abscess was aspirated. The abscess was cultured using blood culture bottle. The pus grew Actinomyces radingae and Clostridium ramosum. When performing the pus culture, using blood culture bottles can be more effective and rapid than the standard culture method for the detection of bacterial pathogens.

• Pediatric Infection and Vaccine
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• v.26 no.2
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• pp.81-88
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• 2019

Purpose: Early detection of Mycoplasma pneumoniae is important for appropriate antimicrobial therapy in children with pneumonia. This study aimed to evaluate the diagnostic value of a rapid antigen test kit in detecting M. pneumoniae from respiratory specimens in children with lower respiratory tract infection (LRTI). Methods: A total of 215 nasopharyngeal aspirates (NPAs) were selected from a pool of NPAs that had been obtained from children admitted for LRTI from August 2010 to August 2018. The specimens had been tested for M. pneumoniae by culture and stored at $-70^{\circ}C$ until use. Tests with Ribotest $Mycoplasma^{(R)}$ were performed and interpreted independently by two investigators who were blinded to the culture results. Results: Among the 215 NPAs, 119 were culture positive for M. pneumoniae and 96 were culture negative. Of the culture-positive specimens, 74 (62.2%) were positive for M. pneumoniae by Ribotest $Mycoplasma^{(R)}$, and 92 of the 96 (95.8%) culture-negative specimens were negative for M. pneumoniae by Ribotest $Mycoplasma^{(R)}$. When culture was used as the standard test, the sensitivity and specificity of Ribotest $Mycoplasma^{(R)}$ were 62.2% and 95.8%, respectively. Additionally, the positive predictive value, negative predictive value, and overall agreement rates with Ribotest $Mycoplasma^{(R)}$ were 94.9%, 67.2%, and 77.2%, respectively. Conclusions: A positive test result of Ribotest $Mycoplasma^{(R)}$ suggests a high likelihood of culture-positive M. pneumoniae infection. However, a negative test result should be interpreted with caution because nearly one-third of negative test results reveal culture-positive M. pneumoniae infections.

• 건강소식
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• v.10 no.11 s.96
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• pp.14-17
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• 1986

일단 어린이가 심장병을 갖고 있는 것을 알게되면 가까운 병원의 전문의사와 주기적으로 상담 및 진찰을 받고 수술이 가능한 경우는 반드시 적절한 시기에 근치적인 수술을 받도록 할것이며 만일 그렇지 못한 경우라 할지라도 최선의 건강상태를 유지하여 정상적인 생활을 할 수 있도록 항상 관심을 가지고 주의깊게 관찰을 하여야 할 것으로 생각된다.

• Child Health Nursing Research
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• v.23 no.4
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• pp.459-469
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• 2017

Purpose: Nurses experience burnout related to various factors. For this descriptive research job stress, compassion satisfaction, and compassion fatigue were examined as to their relationship to burnout in nurses from children's hospital. Methods: The participants were 305 nurses working in children's hospital. Self-report questionnaires were used to measure job stress, compassion satisfaction, compassion fatigue and burnout. Results: Nurses in children's hospital experienced a greater than moderate degree of job stress, compassion satisfaction, compassion fatigue and burnout, whereas differences existed according to general characteristics. Job stress, compassion fatigue and burnout showed a significant positive correlation and results of compassion fatigue and burnout were similar. Also, job stress, compassion satisfaction and compassion fatigue were associated with burnout in nurses working in children's hospital. Conclusion: Findings indicate that as longer work experience is accompanied by higher job stress and burnout, it is necessary to develop intervention programs to reduce burnout among career nurses exposed to greater job stress in children's hospital.

• Journal of the Korean Child Neurology Society
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• v.24 no.3
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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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• v.22 no.3
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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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• v.33 no.12
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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.

• 한국방재학회:학술대회논문집
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• 2010.02a
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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.