• Journal of Genetic Medicine
• /
• 제17권1호
• /
• pp.39-42
• /
• 2020

The Senior-Loken syndrome was first described in 1961 as an oculo-renal disease consisting of familial juvenile nephronophthisis and Leber congenital amaurosis. It is a rare autosomal recessive disorder with a prevalence of 1:1,000,000 caused by mutations in nine genes (NPHP 1-8 and NPHP 10). Ocular manifestations (e.g., photophobia, nystagmus, and extreme hyperopia) occur within the first few years of life while renal manifestations (e.g., formation of multiple cysts impairing kidney function and end-stage renal disease) appear in late childhood to adolescence. Here, we report a case of a Filipino male presenting with rotatory nystagmus and progressive deterioration of vision since childhood. He had congenital amaurosis and juvenile nephronophthisis that progressed to end stage renal disease by age 19. All laboratory and imaging findings were consistent with chronic kidney disease. Molecular genetic testing of ciliopathy-related genes was performed revealing a homozygous mutation in exon 11 of the IQCB1/NPHP5 gene, c.1090C>T (p.Arg364^⁎). This sequence change created a premature translational stop signal resulting in a truncated protein product, nephrocystin-5 and its consequent loss of function. His symptoms eventually improved with initiation dialysis. The prognosis of Senior-Loken syndrome remains dismal and a high index of suspicion, early diagnosis and timely intervention of renal complications are warranted.

• Neonatal Medicine
• /
• 제15권1호
• /
• pp.105-110
• /
• 2008

신생아 간농양은 특별한 증상이 발현되지 않거나 비특이적인 증상 때문에 진단이 늦어지는 경우가 많다. 항생제의 사용에도 불구하고 염증 반응이 지속되며 복부증상이 함께 나타나는 경우, 주산기 산모의 심한 감염, 융모양막염 등의 선행인자가 있고, 제대혈관 도관과 관련된 패혈증이 있는 경우에는 간농양의 가능성을 고려해야 한다. 저자들은 생후 9일된 미숙아에서 제대정맥 도관과 함께 산모의 폐렴 및 심한 융모양막염이 선행요인이 되어, 단일성 간농양이 발생한 진단된 사례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• 대한유전성대사질환학회지
• /
• 제13권2호
• /
• pp.120-125
• /
• 2013

Purpose: McCune-Albright syndrome (MAS) is caused by activating mutations in the GNAS gene, resulting in peripheral precocious puberty, caf$\acute{e}$-au-lait spots, and polyostotic fibrous dysplasia (POFD). The aim of the present study was to describe the diverse clinical and endocrine characteristics of patients with MAS. Methods: Seven patients with MAS were included in this study and medical charts were reviewed retrospectively for following parameters: patient's sex and age at diagnosis, POFD, ovarian cysts, and precocious puberty. Results: The mean age at diagnosis was $5.8{\pm}4.2$ years. One patient was male (14%) and the other six patients were female (86%). Peripheral precocious puberty was associated with 6 patients (86%). Five patients manifested premature menarche as early as 2 to 5 years of age. Letrozole was administered to 4 patients, tamoxifen to one patient and GnRH agonist to one patient. Five females developed ovarian cysts. Thyroid function tests were performed in all patients and one patient showed hyperthyroidism (14%) and has been treated with methimazole. One patient presented with pseudohypoparathyroisdism, phosphaturia, calciuria suggesting hypophosphatemic rickets. Six patients (86%) revealed POFD. One patient had symptoms of optic nerve compression and secondary esotropia and 2 patients had bone pain. Conclusion: This study described clinical characteristics and endocrine complications of patients with MAS. Careful physical examinations with history taking and serial endocrine function tests should be needed to detect complications such as endocrinologic hyperfunction and POFD.

• 보건행정학회지
• /
• 제25권3호
• /
• pp.149-151
• /
• 2015

United Nations (UN) adopted 17 global sustainable development agenda to the year 2030 in the 68th general assembly on september, 2015. The global agendas and goals are important for 3 reasons: (1) to adopt the international standard for determining the health status; (2) to identify areas in need of attention; and (3) to advance international cooperation regarding health issues. In the area of infectious diseases, our goals include the eradication of human immunodeficiency virus infection and acquired immune deficiency syndrome, tuberculosis, and malaria as well as a substantial reduction of hepatitis by the year 2030. In the area of non-communicable diseases, our goal is to reduce premature mortality (${\leq}70years$) at least 30% by the year 2030. Preventive activities such as smoking cessation, alcohol abstinence, nutritional measures, and physical activities, should also be promoted intensively nationwide. It is also necessary to establish stringent policies for control hypertension, diabetes, obesity, and hypercholesterolemia. Additionally, environmental health, injury by traffic accident, mental health, and drug and alcohol abuse are important health policies. Furthermore, in the area of international health and cooperation, maternal and child health remain important areas of support for underdeveloped countries. Education and training towards the empowerment of health professionals in underdeveloped countries is also an important issue. The global agenda prioritize resources(manpower and budget) allocation of international organizations such as UN, World Health Organization, United Nations Development Programme, and World Bank. The global agenda also sets the contribution levels of Official Developmental Assistance donor countries. Health professionals such as professors and researchers will have to turn their attention to areas of vital international importance, and play an important role in implementation strategies and futhermore guiding global agenda.

• 영재교육연구
• /
• 제20권3호
• /
• pp.789-807
• /
• 2010

본 연구는 영재들의 음악경험과 흥미도가 창의성에 끼치는 영향력을 분석함으로써 국내 영재의 창의성 신장을 위한 예술 활동의 가능성을 탐색하고자 수행되었다. 연구결과 영재들의 음악경험 및 흥미도는 전체적으로 중하위 수준에 분포되어 있었다. 창의성 점수 평균은 높았으며, 하위 영역 중 독창성, 추상성, 종결 등이 특히 우수한 것으로 조사되었다. 또한 음악경험과 흥미도가 창의성의 다양한 하위 요인에 끼치는 긍정적 효과도 나타났다. 한편 본 연구를 통해 얻은 몇 가지 결론 및 시사점은 다음과 같다. 첫째, 예술 활동으로서의 음악경험이 영재의 창의성에 끼치는 영향력 탐색을 위해서는 먼저 연구대상 영재들이 경험하고 있는 음악활동 자체에 대한 질적 점검이 선행되어야 한다. 둘째, 저조한 영재들의 음악경험 및 흥미도에 주목할 필요가 있다. 셋째, 예술교육 활성화 이전에 영재들의 창의성 신장을 위해 왜 예술교육이 필요한지에 대한 명확한 이유와 효용성에 관한 제시가 선행되어야 한다.

• Nutrition Research and Practice
• /
• 제11권6호
• /
• pp.492-499
• /
• 2017

BACKGROUND/OBJECTIVES: This study aimed to investigate the association of dietary patterns with overweight risk and all-cause mortality in pediatric cancer patients. SUBJECTS/METHODS: Prospective cohort study was undertaken; 83 cancer patients admitted to the pediatric cancer ward at a university hospital in Seoul were included and followed for obesity and death over 24 months. Food consumption data were collected from patients using validated meal order sheets for breakfast, lunch, and dinner at the pediatric cancer ward over 3 days. Using principal component analysis, three dietary patterns were derived from 29 food groups. RESULTS: Eighteen deaths occurred among the patient cohort during the follow-up period. The "spicy & fried meat and fish" dietary pattern was positively associated with overweight risk at both baseline [odds ratio (OR) = 4.396, 95% confidence interval (CI) = 1.111-17.385, P for trend = 0.023] and after 6 months (OR = 4.088, 95% CI = 1.122-14.896, P for trend = 0.025) as well as all-cause mortality (hazard ratios = 5.124, 95% CI = 1.080-24.320, P for trend = 0.042), when comparing the highest and lowest tertiles after adjusting for covariates. The "fish, egg, meat, and fruits & vegetables" dietary pattern was associated with lower overweight risk after 24 months (OR = 0.157, 95% CI = 0.046-0.982, P for trend = 0.084). CONCLUSION: The results imply that dietary patterns might be associated with weight gain and premature death among pediatric cancer patients.

• Journal of Nutrition and Health
• /
• 제32권8호
• /
• pp.877-886
• /
• 1999

To assess the effect of an antenatal nutritional status on pregnancy outcome, especially neonatal birty weight, one-day 24hr-recall and two-day recording methods for dietary survey and interview for general and obstetric characteristics of each subject were completed and pregnancy outcome was recorded by phone after delivery. 147 pregnant women attending routinely public health centers in Ulsan were divided into 1st trimester(n=36), 2nd trimester(n=102), 3rd trimester(n=71) by LMP(Last Menstrual Period) because some subjects attended repeatedly in different trimester. The subjects were aged 27.9$\pm$2.9 as mean and the level of education was senior high school and more. 20.4% of subjects experienced spontaneous abortion and 30.0% experienced induced abortion in previous pregnancy. Mean intakes of all nutrients except ascorbic acid were significantly different but dietary composition of energy intakes was not different between trimester. Mineral of calcium, iron and zinc did not meet the RDA for pregnancy outcome was about 20%, which consists of spontaneous abortion (3.4%), caesarian section(15.6%), premature delivery(0.7%) and still births(0.7%). The mean birth weight of neonates is 3.31kg the rate of neonatal birth weight below 10th percentile was 8.4% and the rate of low birth weight(<2.5kg) was 3.1%. By analysis of nutrient factors that influence on the neonatal birth weight (NBW), iron intake correlated negatively and zinc intake correlated positively with NBW in 1st trimester but fat and iron intakes correlated with NBW positively in 3rd trimester. Prepregnancy weight, gestational age at delivery and No. of induced abortion had a positive effects on NBW and No. of spontaneous abortion and te severity of morning sickness had a negative effects on NBW.

• Journal of Korean Neurosurgical Society
• /
• 제30권sup2호
• /
• pp.364-367
• /
• 2001

A 4-month-old female patient admitted because of hydrocephalus. She was premature infant with germinal matrix hemorrhage at gestational period 27 wks. A ventriculoperitoneal shunt with a low-pressure type valve was placed. Follow-up CT scan obtained 3 months after VP shunt placement, revealed a new Lt. middle cranial fossa cyst. The girl was readmitted to hospital at 7 months after VP shunt placement, complaining of lethargy and vomiting. A CT scan was demonstrated a increase in size of a cyst, She subsequently underwent a left-sided pterional craniotomy with partial excision of membrane and cyst fenestration into the basal cisterns. Follow-up CT scan after 18 months revealed reaccumulation of cyst, the girl was reoperated on. After 2 months, the size of cyst was not decreased. Finally, She underwent a cystoperitoneal shunt. Follow-up CT scan after 5 months was demonstrated disappeared cyst and reexpansion of brain parenchyma. We report the development of a symptomatic sylvian fissure arachnoid cyst developed after ventriculoperitoneal shunt.

• 미술이론과 현장
• /
• 제8호
• /
• pp.7-31
• /
• 2009

This thesis is a study on Sook-Jae Lim(1899~1937) and Korean modern design. In modern Korea, design like most cultural advances came from western culture, that was introduced via Japan. So Korean design can be betterunderstood from observing Japanese modern design history. The research on Japanese modern design, however, is not being done actively. Sook-Jae Lim was the first Korean to graduate from the Department of Design at Tokyo Fine Arts School (currently the Tokyo National University of Fine Arts and Music). He died at a premature 38 years old, so very little of his works exist. That makes the study about him very difficult. From this perspective, the study aims to examine modern design concepts and styles accepted into Korea from Japan and position Lim as an early design pioneer in Korean design history, by using research of Korean and Japanese design fields in the modern era with focus on Lim and his works. Chapter II researches the process of how the concept of design was formed in modern Japan and how the "Art-Nouveau" style not only represents early modern design but also features Lim's works dominantly. Chapter III looks into the process of how the concept of design was formed and which design styles were introduced and applied in modern Korea. Chapter IV analyzes how Lim's viewpoint on design and his works were developed with observations about the tendency of the Japanese design field and curriculums of the Tokyo Fine Arts School during the period of his college days.

• 대한금속재료학회지
• /
• 제50권12호
• /
• pp.939-948
• /
• 2012

A 3-ply clad metal consisting of aluminum and copper was fabricated by roll bonding process and the microstructures and mechanical properties of the roll-bonded and post-roll-bonding heat treated Cu/Al/Cu clad metal were investigated. A brittle interfacial reaction layer formed at the Cu/Al interfaces at and above $400^{\circ}C$. The thickness of the reaction layer increased from $12{\mu}m$ at $400^{\circ}C$ to $28{\mu}m$ at $500^{\circ}C$. The stress-strain curves demonstrated that the strength decreased and the ductility increased with heat treatment up to $400^{\circ}C$. The clad metal heat treated at $300^{\circ}C$ with no indication of a reaction layer exhibited an excellent combination of the strength and ductility and no delamination of layers up to final fracture in the tensile testing. Above $400^{\circ}C$, the ductility decreased rasxpidly with little change of strength, reflecting the brittle nature of the intermetallic interlayers. In Cu/Al/Cu clad heat treated above $400^{\circ}C$, periodic parallel cracks perpendicular to the stress axis were observed at the interfacial reaction layer. In-situ optical microscopic observation revealed that cracks were formed in the Cu layer due to the strain concentration in the vicinity of horizontal cracks in the intermetallic layer, promoting the premature fracture of Cu layer. Vertical cracks parallel to the stress axis were also formed at 15% strain at $500^{\circ}C$, leading to the delamination of the Cu and Al layers.