• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.96-102
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• 2017

Glycogen storage disease type IX (GSD IX) is caused by deficiency of phosphorylase kinase which plays a role in breakdown of glycogen. Mutations in PHKA2 are the most common cause of GSD IX (GSD IXa). Clinical manifestations of GSD IXa include hepatomegaly, elevation of liver enzyme, growth retardation, fasting hypoglycemia, and fasting ketosis. However, the symptoms overlap with those of other types of GSDs. Here, we report Korean familial cases with GSD IXa whose diagnosis was confirmed by targeted exome sequencing. A 4-year old male patient was presented with hepatomegaly and persistently elevated liver enzyme. Liver biopsy revealed swollen hepatocyte filled with glycogen storage, suggesting GSDs. Targeted exome sequencing was performed for the differential molecular diagnosis of various types of GSDs. A hemizygous mutation in PHKA2 were detected by targeted exome sequencing and confirmed by Sanger sequencing: c.3632C>T (p.Thr121Met), which was previously reported. The familial genetic analysis revealed that his mother was heterozygous carrier of c.3632C>T mutation and his 28-month old brother had hemizygous mutation. His brother also had hepatomegaly and elevated liver enzyme. The hypoglycemia was prevented by frequent meals with complex carbohydrate, as well as cornstarch supplements. Their growth and development is in normal range. We suggest that targeted exome sequencing could be a useful diagnostic tool for the genetically heterogeneous and clinically indistinguishable GSDs. A precise molecular diagnosis of GSD can provide appropriate therapy and genetic counseling for the family.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.20
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• pp.8607-8612
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• 2014

Background: Breast cancer patients experience a variety of altered appearance - such as loss or disfigurement of breasts, discolored skin, and hair loss - which result in psychological distress that affect their quality of life. This study aims to evaluate the impact of socioeconomic status on the altered appearance distress, body image, and quality of life among Korean breast cancer patients. Materials and Methods: A cross-sectional survey was conducted at advocacy events held at 16 different hospitals in Korea. Subjects were eligible to participate if they were 18 years of age or older, had a histologically confirmed diagnosis of breast cancer, had no evidence of recurrence or metastasis, and had no psychological problems at the time of the survey. Employment status, marital status, education, and income were assessed for patient socioeconomic status. Altered appearance distress was measured using the NCI's cancer treatment side effects scale; body image and quality of life were measured by the EORTC QLC-C30 and BR23. Means and standard deviations of each outcome were compared by socioeconomic status and multivariate linear regression models for evaluating the association between socioeconomic status and altered appearance distress, body image, and quality of life. Results: A total of 126 breast cancer patients participated in the study; the mean age of participants was 47.7 (SD=8.4). Of the total, 83.2% were married, 85.6% received more than high school education, 35.2% were employed, and 41% had more than $3000 in monthly household income. About 46% had mastectomy, and over 30% were receiving either chemotherapy or radiation therapy at the time of the survey. With fully adjusted models, the employed patients had significantly higher altered appearance distress (1.80 vs 1.48; p<0.05) and poorer body image (36.63 vs 51.69; p<0.05) compared to the patients who were unemployed. Higher education (10.58, standard error (SE)=7.63) and family income (12.88, SE=5.08) was positively associated with better body image after adjusting for age, disease stage at diagnosis, current treatment status, and breast surgery type. Similarly, patients who were married and who had higher education had better quality of life were statistically significant in the multivariate models. Conclusions: Socioeconomic status is significantly associated with altered appearance distress, body image, and quality of life in Korean women with breast cancer. Patients who suffer from altered appearance distress or lower body image are much more likely to experience psychosocial, physical, and functional problems than women who do not, therefore health care providers should be aware of the changes and distresses that these breast cancer patients go through and provide specific information and psychosocial support to socioeconomically more vulnerable patients.

• Journal of Nutrition and Health
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• v.40 no.4
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• pp.334-346
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• 2007

The present study examined the reproductive factors and food intake pattern which influence on the breast cancer risk in Daegu${\cdot}$Gyungbuk area. The case subjects were 103 patients newly diagnosed as breast cancer at Kyungpook National University Hospital. The control subjects were 159 healthy women selected by frequency matching of age and menopausal status in the same community. The survey was conducted by individual interviews using questionnaires which include general and reproductive characteristics, dietary habits, and food frequency. The odds ratios were calculated by using unconditional logistic regression after adjusting for confounding variables. The mean age of the subjects was 50 yrs, and mean body mass index was significantly high in the patient group than in the control. The patient group had a significantly higher familial history of breast cancer and a significantly shorter breast-feeding period compared to the control group. It has been found no significant relationship between extrinsic hormone use such as oral contraceptives or estrogen replacement therapy and breast cancer risk. In regard of food habits, a high preference for the cooking method of steaming rather than frying, panbroiling or roasting was significantly associated with lower relative risk of breast cancer. The higher intake frequencies of fruits for all subjects, and seaweeds only for postmenopausal subjects were related with a significantly lower relative risk of breast cancer. The results of the study suggest that the possible risk factors for the breast cancer occurrence include high BMI, family history, less breast feeding experience, preference for the cooking method of frying, and less consumption of fruits and seaweeds. This study provides an useful data for nutrition education to prevent breast cancer for the residents in Daegu${\cdot}$Gyungbuk area.

• Journal of Life Science
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• v.25 no.12
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• pp.1384-1392
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• 2015

Sagantang (SGT), a Korean multiherb formula comprising six medicinal herbs, Paeonia lactiflora Pall., Belamcanda chinensis (L.) DC, Gardenia jasminoides Ellis, Poria cocos Wolf, Cimicifuga heracleifolia Komarov, and Artractylodes japonica Koidzumi, was recorded in “Dongeuibogam.” The present study investigated the anticancer potential of SGT in AGS human gastric carcinoma cells. The results indicated that SGT treatment significantly inhibited the growth and viability of AGS cells in a dose-dependent manner, which was associated with the induction of apoptotic cell death, as evidenced by the formation of apoptotic bodies, in addition to chromatin condensation and DNA fragmentation, and the accumulation of annexin-V positive cells. The induction of apoptotic cell death by the SGT treatment was associated with up-regulation of Fas protein expression, truncation of Bid, and down-regulation of the anti-apoptotic Bcl-2 protein. The SGT treatment also effectively induced the loss of mitochondrial membrane potential, which was associated with the activation of caspases (caspase-3, -8, and -9) and degradation of poly (ADP-ribose) polymerase. However, a pan-caspase inhibitor significantly blocked the SGT-induced apoptosis and growth suppression in AGS cells. This study suggests that SGT induces caspase-dependent apoptosis through an extrinsic pathway by upregulating Fas, as well as through an intrinsic pathway by modulating Bcl-2 family members in AGS cells. The results suggest that SGT may be a potential chemotherapeutic agent for the control of human gastric cancer cells. However, further studies will be needed to confirm the potential of SGT in cancer prevention and therapy in an in vivo model and to identify biological active compounds of SGT.

• Journal of Life Science
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• v.19 no.6
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• pp.735-743
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• 2009

The common word flavonoids is often used to classify a family of natural compounds, highly abundant in all higher plants, that have received significant therapeutic interest in recent years. Naringin is associated with a reduced risk of heart disease, neurodegenerative disease, cancer and other chronic diseases; however the molecular basis of this effect remains to be elucidated. Thus we attempted to elucidate the anti-allergic effect of Naringin in ovalbumin (OVA)-induced asthma model mice. The OVA-induced mice showed allergic reactions in the airways. These included an increase in the number of eosinophils in bronchoalveolar lavage (BAL) fluid, an increase in inflammatory cell infiltration into the lung around blood vessels and airways, airway luminal narrowing, and the development of airway hyper-responsiveness (AHR). The administration of Naringin before the last airway OVA challenge resulted in a significant inhibition of all asthmatic reactions. Accordingly, this study may provide evidence that Naringin plays a critical role in the amelioration of the pathogenetic process of asthma in mice. These findings provide new insight into the immunopharmacological role of Naringin in terms of its effects on asthma in mice.

• Journal of Music and Human Behavior
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• v.3 no.1
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• pp.13-28
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• 2006

Autistic children have difficulties in communication. They tend to have more difficulties in general expression than in understanding sentences. This thesis tested the effect of music activities on children who have difficulties in language expression. As a research method, a group of autistic middle school students was selected who were attending normal schools. Three male students were selected for the test of K-ABC and CARS. Music treatments on the selected students were applied fifteen times, twice a week, for thirty minutes every time. The total treatment process could be divided into two stages. The stage one included the first twelve treatments and the stage two included following three treatments. In the stage one, the selected autistic students learned twenty four musics under real-world-like social circumstances. In the stage two, the students repeatedly learned the twenty four musics. A week before beginning the music treatment, the students were tested by PRES and a test developed by the author of this thesis. And a week after all treatments were completed, the students were tested again with the same test method to check if the students' expressive language ability got improved. The results of the research were as the following: First, the music treatment helped improve the autistic student's ability of expressing themselves such as 'requesting', 'rejecting', 'applying social customs' and 'providing information'. Second, the author of this thesis first had a hypothesis that the tested students might show different levels of achievements according to their intellectual ability or expressive language ability in K-ABC test, PRES and CARS. But it was not true. The student's level of achievement by music activities was proved not to have a significant correlation with their intellectual or expressive language abilities in the tests. Third, it was found that, through pre- and post-test of PRES, the music treatments could improve the receptive language ability as well as the expressive language ability. It saw great effect that musical data that utilize in specially this research investigator according to children's ability, autistic children write lyrics setting in social circumstance that is revealed much routinely and composes. To front, expect that suitable a lot of musics are developed in function and ability of subject person for elevation of expressive language ability.

• Journal of Nutrition and Health
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• v.43 no.5
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• pp.533-542
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• 2010

The objective of this study is to provide basic information and policy implications needed to balance the supply and demand for dietitian by projecting supply and demand for dietitian. The data from the Ministry of Health Welfare and Family on the number of licensed nutritionist, resident registration data of the Ministry of Public Administration and Security, and health insurance qualification data of the National Health Insurance Corporation were used to examine the current status of supply. To project the supply of nutritionist workforce, the in-out moves method and demographic method were used. The ratios of nutritionist to population and GDP, and that of other countries were applied as the demand projection method. According to the study results, the projection on the imbalance of supply and demand for dietitian by year 2021 differs depending on the method used. First, according to the results based on age-adjusted population ratio, there is an oversupply of 1,643 dietitians in year 2010, and 2,076 dietitians in year 2020. Second, although the projection on the imbalance of the supply and demand for dietitian differs depending on whether the GDD is calculated in won(￦) or dollar($). it is expected that there will be an oversupply in general. Third, as to the scenario using the nutritionist ratio in foreign countries, the oversupply of dietitian is likely in Korea, under any scenario, when comparing the nutritionist supply projection with the demand projection based on the nutritionist ratio in the United States. However, the projection of the supply and demand varies in each scenario when the European nutritionist ratio is applied. Under European 'scenario 1', an oversupply is expected, whereas under 'scenario 2', a shortage of supply is expected. A careful approach is required in interpreting the supply and demand projection using criteria of other countries, because dietitian assumes different roles and functions in each country. Although a slight oversupply of nutritionist workforce is projected, it does not cause a major problem as the demand for diet therapy is expected to rise due to aging and the increase of chronic diseases, and as the demand for clinical dietitians in hospitals increases. Accordingly, the demand for dietitians will rise and, in this context, the oversupply of nutritionist will not incur much problem. However, the nutritionist qualification is much too open in Korea, and this has a negative effect on the quality of the nutritionist workforce. Therefore, it is important that the nutritionist qualifications and requirements are reinforced in the future, enhance the quality level of the nutritionist supply, and maintain the balance between the supply and demand.

• Radiation Oncology Journal
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• v.27 no.1
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• pp.15-22
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• 2009

Purpose: This study was designed to evaluate the effects on bone mineral density (BMD) and related factors according to the distance from the radiation field at different sites. This study was conducted on patients with uterine cervical cancer who received pelvic radiotherapy. Materials and Methods: We selected 96 patients with cervical cancer who underwent determination of BMD from November 2002 to December 2006 after pelvic radiotherapy at Kosin University Gospel Hospital. The T-score and Z-score for the first lumbar spine (L1), fourth lumbar spine (L4) and femur neck (F) were analyzed to determine the difference in BMD among the sites by the use of ANOVA and the post-hoc test. The study subjects were evaluated for age, body weight, body mass index (BMI), post-radiotherapy follow-up duration, intracavitary radiotherapy (ICR) and hormonal replacement therapy (HRT). Association between the characteristics of the study subjects and T-score for each site was evaluated by the use of Pearson's correlation and multiple regression analysis. Results: The average T-score for all ages was -1.94 for the L1, -0.42 for the L4 and -0.53 for the F. The average Z-score for all ages was -1.11 for the L1, -0.40 for the L4 and -0.48 for the F. The T-score and Z-score for the L4 and F were significantly different from the scores for the L1 (p<0.05). There was no significant difference between the L4 and F. Results for patients younger than 60 years were the same as for all ages. Age and ICR were negatively correlated and body weight and HRT were positively correlated with the T-score for all sites (p<0.05). BMI was positively correlated with the T-score for the L4 and F (p<0.05). Based on the use of multiple regression analysis, age was negatively associated with the T-score for the L1 and F and was positively correlated for the L4 (p<0.05). Body weight was positively associated with the T-score for all sites (p<0.05). ICR was negatively associated with the T-score for the L1 (p<0.05). HRT was positively associated with the T-score for the L4 and F (p<0.05). Conclusion: The T-score and Z-score for the L4 and F were significantly higher than the scores for the L1, a finding in contrast to some previous studies on normal women. It was thought that radiation could partly influence BMD because of a higher T-score and Z-score for sites around the radiotherapy field. We suggest that a further long-term study is necessary to determine the clinical significance of these findings, which will influence the diagnosis of osteoporosis based on BMD in patients with cervical cancer who have received radiotherapy.