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A case of Hyper-IgE syndrome with a mutation of the STAT3 gene (STAT3유전자 돌연변이 검사로 확진된 고면역글로불린E 증후군 1례)

  • Kang, Ji-Man;Suh, Jung-Min;Kim, Ji-Hyun;Kim, Hee-Jin;Kim, Yae-Jean;Lee, Hun-Seok;Shin, Young-Kee;Ahn, Kang-Mo;Lee, Sang-Il
    • Clinical and Experimental Pediatrics
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    • v.53 no.4
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    • pp.592-597
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    • 2010
  • Hyperimmunoglobulin E syndrome (HIES) is a rare immunodeficiency disease which is characterized by high serum IgE levels, eczema, and recurrent infections. Herein we present the case of a patient with HIES associated with STAT3 gene ($stat3$) mutation. A 16 year-old girl was admitted to our hospital due to hemoptysis caused by pneumonia with bronchiectasis. She had a history of recurrent skin and respiratory tract infections, such as pneumonia caused by MRSA (methicillin-resistant $Staphylococcus$ $aureus$) and $Pseudomonas$ $aeruginosa$. On physical examination, a broad round shaped nose, oral thrush, and chronic eczematous skin rash over her whole body were found. Laboratory data showed an elevated eosinophil count ($750/{\mu}L$) and total IgE level (5,001 U/mL). The patient's National Institutes of Health (NIH) score for HIES was 44. Direct sequencing of the STAT3 gene revealed that the patient was heterozygous for a missense mutation in the DNA binding domain of the STAT3 protein (c.1144C>T, p. Arg382Trp). HIES should be suspected in patients with recurrent infections and can be confirmed by clinical scoring and genetic analysis.

A Case Study of Configuration Strategy and Context in Everyday Artifacts - Concentrated on analysis by Creativity Template Theory and Artifact Context Model - (일상 디자인산물의 구성배치 전략과 맥락에 관한 연구 - 창조성템플릿이론과 산물맥락모델을 이용한 분석을 중심으로 -)

  • Jin Sun-Tai
    • Archives of design research
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    • v.19 no.4 s.66
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    • pp.41-50
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    • 2006
  • It is generally regarded a design system in post-industrial society, which products designed by in-house designers or design consultancy are manufactured in factory and distributed in market for the consumer. Although it is treated an old design system in traditional society, the traces of vernacular design has been remaining in the state of adopted to the periodical needs in these days, also proving the attribute of design culture to constitute human's material environment as well as existing design systems. There were discovered various design artifacts in daily surroundings vary from the established design in several manners, user modifications or manufactures in everyday lives formalized them. It was approached a case study that analyze the changes of artifact configuration and designer/user context and creation process of the non-professional design artifacts, Creativity Template Theory and ACM(Artifact Context Model) have been utilized for the analysis model. From the analysis result, It assume that the everyday artifacts may be ordinary but extra-ordinary including particular ideas and identity represented by everyday designers or users. Beside these characteristics induce the potentiality that reflect on creative motives for the designers or a complementary artifact generator filling up with drawbacks in established design system. The everyday design domain, various explorations and alternatives are made, is seems to be another design practice domain dissimilar to the one in the industry-based design. Moreover it provides an more easily accessability for the approaching user-friendly design, user customization because they conduct the reliable modeling of consumer and end-user. Finally, based on the exploratory study regarding interpretation of context and configuration in the everyday artifacts, new approach for the design process and design education through more detailed cognitive modeling of everyday designers will be a further study.

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Nutritional Components and Their Antioxidative Protection of Neuronal Cells of Litchi (Litchi chinensis Sonn.) Fruit Pericarp (리치 과피의 영양화학 성분 및 항산화성 신경세포 보호효과)

  • Jeong, Hee-Rok;Choi, Gwi-Nam;Kim, Ji-Hye;Kwak, Ji-Hyun;Kim, Yeon-Su;Jeong, Chang-Ho;Kim, Dae-Ok;Heo, Ho-Jin
    • Korean Journal of Food Science and Technology
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    • v.42 no.4
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    • pp.481-487
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    • 2010
  • The nutritional components, antioxidant, and neuroprotective effects of water and a 50% methanol extract from litchi fruit pericarp were investigated. The most abundant mineral, amino acid, and fatty acid were K, proline, and palmitic acid, respectively. In addition, the total water phenolics and 50% methanol extracts were 8.02 and 12.28 mg/g, respectively. The DPPH, ABTS radical scavenging activities and ferric reducing antioxidant power of the water and 50% methanol extracts showed dose-dependent antioxidant activity. In a cell viability assay using MTT, almost all extracts showed a protective effect against $H_2O_2$-induced neurotoxicity, and lactate dehydrogenase leakage was also inhibited by the pericarp extracts. In particular, the 50% methanol extract showed a higher cell membrane protective effect than the water extract at the highest concentration. Consequently, these data suggest that litchi fruit pericarp can be utilized as an effective and safe functional food substances for natural antioxidants and may reduce the risk of neurodegenerative disorders.

The Result of Radiotherapy for Pituitary Adenoma (뇌하수체 선종의 방사선치료 결과)

  • Lee, Hyun-Joo;Yang, Kwang-Mo;Cho, Heung-Lae;Shon, Seung-Chang;Suh, Hyun-Suk
    • Radiation Oncology Journal
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    • v.15 no.4
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    • pp.297-303
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    • 1997
  • Purpose : To evaluate the prognostic factors for disease-free survival and long-term results of radiotherapy for pituitary adenoma. Methods and Materials : The study involved a retrospective review of out-come in a series of 27 patients with pituitary adenoma, between 1984 and 1995 at Paik hospital. The study included 20 patients treated with surgery and postoperative radiotherapy and 7 with radiotherapy alone. The patients were followed for 12-146 months (median : 97 months). Seventeen were men and 10 were women. The numbers of functioning and nonfunctioning pituitary adenorna were 22 and 5 respectively and those of microadenoma and macroadenoma were 4 and 23 respectively. The radiation doses of 5040-5580cGy (median : 5040cGy) were deliverd over 5-7 weeks, using 4MV LINAC. The prognostic factors were analyzed by log-rank test. Results: For radiation therapy alone, the 5YSR was 100% and progression free survival rate was 85.8%, The tumor was controlled in 6/7 (85.8%). For surgery and postoperative radiotherapy. the 5YSR, progression free survival rate and local control rate were 95%, 84.8%, and 89.5% respectively. The parameters of tumor size, hormone secretion, radiation dose. radiotherapy field size were evaluated in a uni- and multivariate analysis and all the factors were not statisticaIty significant (P>0.05). Eleven of 12 (92%) with visual field defect experienced normalization or improvement, and 5 for 7 evaluabie patients with hyperprolactinoma achived normalization in 4 and decrement in S patients. Only 2 patients developed mild degree of Panhypopituitarism. Conclusion: The radiotherapy appears to be effective in controiling clinical symptoms and signs resulting from pituitary adenoma. Local control rate with radiotherapy alone or with surgery and postoperative radiotherauy was comparable. There was a trend toward high recurrence rate in Patients with nonfunctioning or prolactin secretion tumor and larger radiation field sizes.

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Death Recognition, Meaning in Life and Death Attitude of People Who Participated in the Death Education Program (죽음교육 프로그램 참여자의 죽음인식, 생의 의미 및 죽음에 대한 태도)

  • Kang, Kyung-Ah;Lee, Kyung-Soon;Park, Gang-Won;Kim, Yong-Ho;Jang, Mi-Ja;Lee, Eun
    • Journal of Hospice and Palliative Care
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    • v.13 no.3
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    • pp.169-180
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    • 2010
  • Purpose: This study was to identify the death recognition, meaning in life, and death attitude of participants in the death education program. Methods: A survey was conducted, and 205 data were collected. Descriptive statistics, ${\chi}^2$-test, ANOVA, and Duncan test were used. Results: 1) The followings were the characteristics of death recognition shown by the participants. Over half of the participants said that they had given some thoughts on their deaths, that they had agreeable view on death acceptance, and that diseases and volunteer works made them think about their deaths. Moreover, suffering, parting with family and concerns for them, etc. were the most common reasons for the difficulty of accepting death. As for 'the person whom I discuss my death with', spouse, friend, and son/daughter were the most chosen in this order. Lastly, the funeral type that most of the participants desired was cremation. 2) The means of meaning in life and death attitude were $2.92{\pm}0.29$ and $2.47{\pm}0.25$, respectively. There were significant differences between health status, meaning in life and death attitude. 3) A significant positive corelationship was found between meaning in life and death attitude (r=0.190, P=0.001). Conclusion: For an effective death education program that would fit each individual's situation, an educational content that can make a person understand the meaning of his or her life and death, includes knowledge to lessen the fear and anxiety of death, and helps a person heal from the loss of a family member is absolutely necessary.

Oxygen and Hydrogen Isotopic Compositions of Stream Waters in the Han River Basin (한강 수계 분지내 하천수의 산소, 수소 안정동위원소 조성)

  • 김규한;이세희
    • Economic and Environmental Geology
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    • v.35 no.2
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    • pp.113-120
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    • 2002
  • Oxygen and hydrogen isotopic compositions of stream water in the Han river basin are expressed by the equation of $\delta$D=6.6$\delta$$^{18}$ O-7.4, which is not satisfy the meteoric water line ($\delta$D=8$\delta$$^{18}$ O+10). It might be depended on the local climatic condition and the evaporation effect in the Han river basin. The $\delta$$^{18}$ O and $\delta$D values of stream water in the Han river basin range from -8.2 to -10$\textperthousand$ (avg. -9.1$\textperthousand$) and -60 to -96$\textperthousand$ (avg. -69$\textperthousand$), respectively. The stream water from the South Han river (8$\delta$$^{18}$ O= -8.9~ -10$\textperthousand$, avg.-9.3$\textperthousand$ $\delta$D: -66~ -96$\textperthousand$, avg.-69$\textperthousand$) is slightly more depleted in $^{18}$ O and D than those of North Han river ($\textperthousand$$^{18}$ O= -8.4~ -9.7$\textperthousand$, avg. -9.2$\textperthousand$, $\delta$D= -64~ -95$\textperthousand$, avg. -69$\textperthousand$). It reflects more altitude effect than the effect of latitude and Inflow of the $^{18}$ O eniched S $O_4$$^{2-}$ and HC $O_3$- from the carbonate rock and sulfide minerals in the Taebagsan and Hwanggangri mineralized zone. The Main stream water of the Han river having $\delta$D: -60~ -76$\textperthousand$ (avg.-68$\textperthousand$) and $\textperthousand$$^{18}$ O= -8.2~-10$\textperthousand$ (avg.9.0$\textperthousand$) is enriched in $^{18}$ O compared to the South and North Han river waters, which is caused by the evaporation effect. Binary simple mixing ratio of the Main Han river water between South and North Han river waters was obtained to be 6 : 4 by the isotopic data, suggesting a strong influence of South Han river water to the Main Han river water.

Different Metabolic Patterns of Parkinsonism: Analysed by Statistical Parametric Mapping (통계적 파라미터를 이용한 Parkinsonism의 Metabolic pattern 분석)

  • 주라형;김재승;최보영;문대혁;서태석
    • Progress in Medical Physics
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    • v.14 no.2
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    • pp.108-123
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    • 2003
  • The purpose of this study is to evaluate the contribution of $^{18}$ F-FDG brain PET in the differentiating Idiopathic parkinson's diesease (IPD), progressive supranuclear palsy (PSP), and multiple system atrophy (MSA). We studied 24 patients with parkinsonism : 8 patients (mean age 67.9$\pm$10.7 y: M/F : 3/5) with IPD, 9 patients (57.9$\pm$9.2 y : M/F : 4/5) with MSA and 7 patients (67.6$\pm$4.8 y : M/F 3/4) with PSP. All patients with parkinsonism and 22 age-matched normal controls underwent $^{18}$ F FDG PET in 3D mode after the injection of 370 MBq $^{118}$ F FDG. The patients with IPD, MSh and PSP were compared with a normal control group by a two-sided t-test of SPM99 (uncorrected P<0.001, extent threshold>100 voxel). All three parkinsonism groups, showed significant hypometabolism in the cerebral neocortex compared to the normal control group. However, the three groups displayed different metabolism in the subcortical structure, brain stem, and cerebellum. In IPD, there was no significant hypometabolism in the putamen, brain stem and cerebellum. However, MSA patients showed significant hypometabolism in the striatum, pons, and cerebellum compared to the normal controls and IPD patients. In addition, PSP showed significant hypometabolism in the caudate nuclei, the thalamus, midbrain, and the cingulate gyrus compared to the normal controls, the IPD, and MSA groups (IPD vs Normal sensitivity/specificity : 75%/l00%, MSA vs Normal sensitivity/specificity :100%/87%, PSP vs Normal sensitivity/specificity : 86%/94%). Our results show that the regional metabolism of IPD, MSA, and PSP is different mainly in the striatum, thalamus, brain stem and cerebellum. An assessment of the $^{18}$ F-FDG PET scan images using SPM may be a useful adjunct to a clinical examination in making a differential diagnosis of Parkinsonism.

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Outcome of Preimplantation Genetic Diagnosis for Chromosome Aneuploidy and Genetic Disease (유전질환 및 염색체 이상의 예방을 위한 착상전 유전진단의 결과)

  • Kim, Jin-Yeong;Lim, Chun-Kyu;Song, In-Ok;Yoo, Keun-Jai;Yang, Kwang-Moon;Han, Kuk-Sun;Hur, Kuol;Song, Ji-Hong;Jun, Jin-Hyun;Min, Dong-Mi;Park, So-Yeon;Jun, Jong-Young;Koong, Mi-Kyoung;Kang, Inn-Soo
    • Clinical and Experimental Reproductive Medicine
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    • v.29 no.4
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    • pp.269-278
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    • 2002
  • Objective s: Chromosome aneuploidy is associated with recurrent abortion and congenital anomaly and genetic diseases occur repeatedly in the specific families. Preimplantation genetic diagnosis (PGD) can prevent aneuploidy or genetic disease by selecting normal embryos before implantation and is an alternative to prenatal diagnosis. The aim of this study is to assess the outcome of PGD cycles by using FISH or PCR, and to determine the clinical usefulness and values in patients with risk of chromosomal aneuploidy or genetic disease. Materials and Methods: From 1995 to Apr. 2001, a total of 108 PGD cycles in 65 patients with poor reproductive outcome were analyzed. The indications of PGD were translocation (n=49), inversion (n=2), aneuploidy screening (n=7), Duchenne muscular dystrophy (n=5) and spinal muscular atrophy (n=2). PGD was applied due to the history of recurrent abortion, previous birth of affected child or risk of aneuploidy related to sex chromosome aneuploidy or old age. Blastomere biopsy was performed in 6$\sim$10 cell stage embryo after IVF with ICSI. In the single blastomere, chromosome aneuploidy was diagnosed by using FISH and PCR was performed for the diagnosis of exon deletion in DMD or SMA. Results: The FISH or PCR amplification was successful in 94.3% of biopsied blastomeres. The rate of transferable balanced emb ryos was 24.0% in the chromosome translocation and inversion, 57.1% for the DMD and SMA, and 28.8% for the aneuploidy screening. Overall hCG positive rate per transfer was 17.8% (18/101) and clinical pregnancy rate was 13.9% (14/101) (11 term pregnancy, 3 abortion, and 4 biochemical pregnancy). The clinical pregnancy rate of translocation and inversion was 12.9% (11/85) and abortion rate was 27.3% (3/11). In the DMD and SMA, the clinical pregnancy rate was 33.3% (3/9) and all delivered at term. The PGD results were confirmed by amniocentesis and were correct. When the embryos developed to compaction or morula, the pregnancy rate was higher (32%) than that of the cases without compaction (7.2%, p<0.01). Conclusions: PGD by using FISH or PCR is useful to get n ormal pregnancy by reducing spontaneous abortion associated with chromosome aneuploidy in the patients with structural chromosome aberration or risk of aneuploidy and can prevent genetic disease prior to implantation.

Seasonal Variation of Mineral Nutrients in Korean Common Fruits and Vegetables (한국인 상용 과일과 채소의 계절별 무기질 함량 변화)

  • Kim, Ju-Hyeon;Kim, Mee-Jeong;Oh, Hyun-Kyung;Chang, Moon-Jeong;Kim, Sun-Hee
    • Journal of the East Asian Society of Dietary Life
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    • v.17 no.6
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    • pp.860-875
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    • 2007
  • The purpose of this study was to investigate the seasonal variation in the mineral contents of fruits and vegetables available all the year -round. We analyzed Na, K, Mg, Ca, P, Fe Cr, Mn, Cu, Zn, Se, and Al concentrations by ICP-mass in 4 fruits and 17 vegetables items which are frequently consumed in Koreans. For Na content, fall apples showed the highest levels among 4 seasons, but fall tangerines contained the lowest amount of Na among the four seasons. Among the vegetables, the spinach, carrots, and lettuce contained relatively high amounts of Na. The K contents of cucumbers, cabbage, and zucchini were higher in the fall than in the other seasons. For Ca and Fe contents, spring strawberries, fall pears, and fall cabbage had the highest levels. The Cr contents of the apples were higher in the fall and winter than those were in the spring and summer. The strawberries contained their highest amounts of Cr, Mn, and Cu in the spring. The above results showed there are seasonal differences in the mineral contents of fruits and vegetables. Additionally, the fruits and vegetables tended to contain more minerals in the season they were harvested. Therefore, it is recommended to consume those fruits and vegetables during their harvest season.

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Psychophysiologic Responses to Event Imagery in Traffic Accident Related Patients (교통사고관련 환자에서 사건상상에 대한 정신생리반응)

  • Chung, Sang-Keun;Choi, Myong-Su;Hwang, Ik-Keun
    • Sleep Medicine and Psychophysiology
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    • v.8 no.1
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    • pp.45-51
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    • 2001
  • Objectives: The experience of traffic accident is a kind of the psychosocial stressors to person. The traffic accident-related patients may show the psychophysiologic hyperarousal. So we examined the differences of psychophysiologic response between patients with and without the memory of experienceing a traffic accident. Methods: Twenty-four traffic accident-related patients were divided into two groups according to ther memory of a traffic accident. In psychological assessment, levels of anxiety and depression were evaluated by State-Trait Anxiety Inventory, Beck's Depression Inventory, and Hamilton Rating Scales For Anxiety and Depression. Heart rate, electrodermal response (EDR), and electromyographic activity (EMG) were measured by biofeedback system, and systolic and diastolic blood pressure by automated vital sign monitor during baseline, task, and rest periods. We utilized script-driven imagery technique as a stressful task. The patients listened to the script describing their own traffic accident experience and were instructed to imagine the event during the task period. Statistically analytic data were obtained from the differences of psychological and psychophysiologic data between two groups. Results: The memory group did not show significantly higher EDR than the none memory group, but showed higher tendency during baseline, imagery, and rest periods. The memory group showed significantly lower EMG than the none memory group during rest period. However, there were no differences in other psychophysiologic reponses between the two groups. Conclusion: Our results showed that the memory group had higher tendency in autonomic arousal level such as electrodermal response than the none memory group. We suggest that physicians need to minimize repetitive imagery of traffic accident (reexperience), and decrease the autonomic hyperarousal in the treatment of traffic accident-related patients.

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