• Journal of Genetic Medicine
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• v.19 no.2
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• pp.94-99
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• 2022

Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized by tumors in various systems. Some children with NF1 also accompanies neurodevelopmental problems. Here, we describe a 5-year-old boy with a maternally inherited pathogenic variant in NF1 and hypoxanthine-guanine phosphoribosyltransferase (HPRT). He was referred for severe neurodevelopmental impairment and hyperuricemia. His mother was diagnosed with NF1 and the patient was also suspected of having NF1 because of cafe au lait macules. He had dystonia, rigidity, cognitive deficit, and speech/language impairment. Serum and urine uric acid concentrations were elevated. He had more severe neurodevelopmental delay than patients with only NF1, so his clinical symptoms could not be fully understood by the disease alone. To find the cause of his neurologic symptoms and hyperuricemia, the patient and his mother underwent a whole-exome sequencing test. As a result, the pathogenic variant c.151C>T (p.Arg51Ter) in HPRT1 was identified as hemizygote in the patient and heterozygote in his mother. The pathogenic variant c.7682C>G (p.Ser2561Ter) in NF-1 was identified as heterozygotes in both of them. Although the clinical symptoms of both diseases were overlapping and complicated, genetic testing was helpful for accurate diagnosis and treatment. Therefore, we suggest to consider preemptive genetic evaluation if there are symptoms not sufficiently explained by known existing diseases. And it is considered valuable to review this rare case to understand the clinical course and possible synergic effects of these diseases.

• Journal of Physiology & Pathology in Korean Medicine
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• v.36 no.5
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• pp.155-162
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• 2022

Even after testing negative for COVID-19, some patients continue to struggle with a variety of symptoms such as fatigue, shortness of breath, gastrointestinal problems and neurological problems. The World Health Organization (WHO) defined long COVID (Post COVID-19 conditions) as "A disease occurs in individuals with a history of probable or confirmed SARS-CoV-2 infection, usually 3 months from the onset of COVID-19 with symptoms that last for at least 2 months, that cannot be explained by an alternative diagnosis." As a possible pathological mechanism of long COVID, three hypotheses are proposed: the persistence of the infectious state due to the residual virus, the persistent inflammatory response, and the autoimmune response. The main symptoms of long COVID are shortness of breath (dyspnea), abdominal pain and dyspepsia, fatigue, cognitive problems (brain fog), anosmia and dysgeusia, and chest pain, palpitations and tachycardia. In the Chinese guidelines, COVID-19 patients were divided into mild, moderate, severe, and recovery, and prescriptions with effective therapeutic effects were summarized to encourage combined treatment of chinese and western medicine. Globally, only symptomatic therapy is recommended for long COVID, but a specific treatment has not yet been proposed. Recently, morbidity code for post COVID-19 conditions was created, and it is planned to announce guidelines for long COVID treatment and management in the first half of 2023. In line with this trend, the Korean medical community needs to make efforts to prepare treatment guidelines for patients with long COVID.

• Investigative Magnetic Resonance Imaging
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• v.9 no.1
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• pp.9-15
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• 2005

Purpose : This study attempted to investigate the effects of supply of highly concentrated $(30\%)$ oxygen on human ability of visuospatial cognition using time course data analysis of functional Magnetic Resonance Imaging (fMRI). Materials and Methods : To select an item set in the visuospatial performance test, two questionnaires with similar difficulty were developed through group testing. A group test was administered to 263 college students. Two types of questionnaire containing 20 questions were developed to measure the ability of visuospatial cognition. Eight college students (right-handed male, average age of 23.5 yrs) were examined for fMRI study. The experiment consisted of two runs of the visuospatial cognition testing, one with $21\%$ level of oxygen and the other with $30\%$ oxygen level. Each run consisted of 4 blocks, each containing control and visuospatial items. Functional brain images were taken from 37 MRI using the single-shot EPI method. Using the subtraction procedure, activated areas in the brain during visuospatial tasks were color-coded by t-score. To investigate the time course data in each activated area from brain images, 4 typical regions (cerebellum, occipital lobe, parietal lobe, and frontal lobe) were selected. Results : The average accuracy was $50.63{\pm}8.63$ and $62.50{\pm}9.64$ for $21\%\;and\;30\%$ oxygen respectively, and a statistically significant difference was found in the accuracy between the two types of oxygen (p<0.05). There were more activation areas observed at the cerebellum, occipital lobe, parietal lobe and frontal lobe with $30\%$ oxygen administration. The rate of increase in the cerebellum, occipital lobe and parietal lobe was $17\%$ and that of the frontal lobe, $50\%$. Especially, there were increase of intensity of BOLD signal at the parietal lobe with $30\%$ oxygen administration. The increase rate of the left parietal lobe was $1.4\%$ and that of the right parietal lobe, $1.7\%$. Conclusion : It is concluded that while performing visuospatial tasks, high concentrations of oxygen administration make oxygen administration sufficient, thus making neural network activate more, and the ability to perform visuospatial tasks increase.

• Journal of Distribution Research
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• v.17 no.2
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• pp.63-92
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• 2012

This study investigated consumer intention to use a location-based mobile shopping service (LBMSS) that integrates cognitive and affective responses. Information relevancy was integrated into pleasure-arousal-dominance (PAD) emotional state model in the present study as a conceptual framework. The results of an online survey of 335 mobile phone users in the U.S. indicated the positive effects of arousal and information relevancy on pleasure. In addition, there was a significant relationship between pleasure and intention to use a LBMSS. However, the relationship between dominance and pleasure was not statistically significant. The results of the present study provides insight to retailers and marketers as to what factors they need to consider to implement location-based mobile shopping services to improve their business performance. Extended Abstract : Location aware technology has expanded the marketer's reach by reducing space and time between a consumer's receipt of advertising and purchase, offering real-time information and coupons to consumers in purchasing situations (Dickenger and Kleijnen, 2008; Malhotra and Malhotra, 2009). LBMSS increases the relevancy of SMS marketing by linking advertisements to a user's location (Bamba and Barnes, 2007; Malhotra and Malhotra, 2009). This study investigated consumer intention to use a location-based mobile shopping service (LBMSS) that integrates cognitive and affective response. The purpose of the study was to examine the relationship among information relevancy and affective variables and their effects on intention to use LBMSS. Thus, information relevancy was integrated into pleasure-arousal-dominance (PAD) model and generated the following hypotheses. Hypothesis 1. There will be a positive influence of arousal concerning LBMSS on pleasure in regard to LBMSS. Hypothesis 2. There will be a positive influence of dominance in LBMSS on pleasure in regard to LBMSS. Hypothesis 3. There will be a positive influence of information relevancy on pleasure in regard to LBMSS. Hypothesis 4. There will be a positive influence of pleasure about LBMSS on intention to use LBMSS. E-mail invitations were sent out to a randomly selected sample of three thousand consumers who are older than 18 years old and mobile phone owners, acquired from an independent marketing research company. An online survey technique was employed utilizing Dillman's (2000) online survey method and follow-ups. A total of 335 valid responses were used for the data analysis in the present study. Before the respondents answer any of the questions, they were told to read a document describing LBMSS. The document included definitions and examples of LBMSS provided by various service providers. After that, they were exposed to a scenario describing the participant as taking a saturday shopping trip to a mall and then receiving a short message from the mall. The short message included new product information and coupons for same day use at participating stores. They then completed a questionnaire containing various questions. To assess arousal, dominance, and pleasure, we adapted and modified scales used in the previous studies in the context of location-based mobile shopping service, each of the five items from Mehrabian and Russell (1974). A total of 15 items were measured on a seven-point bipolar scale. To measure information relevancy, four items were borrowed from Mason et al. (1995). Intention to use LBMSS was captured using two items developed by Blackwell, and Miniard (1995) and one items developed by the authors. Data analyses were conducted using SPSS 19.0 and LISREL 8.72. A total of usable 335 data were obtained after deleting the incomplete responses, which results in a response rate of 11.20%. A little over half of the respondents were male (53.9%) and approximately 60% of respondents were married (57.4%). The mean age of the sample was 29.44 years with a range from 19 to 60 years. In terms of the ethnicity there were European Americans (54.5%), Hispanic American (5.3%), African-American (3.6%), and Asian American (2.9%), respectively. The respondents were highly educated; close to 62.5% of participants in the study reported holding a college degree or its equivalent and 14.5% of the participants had graduate degree. The sample represents all income categories: less than $24,999 (10.8%), $25,000-$49,999 (28.34%), $50,000-$74,999 (13.8%), and $75,000 or more (10.23%). The respondents of the study indicated that they were employed in many occupations. Responses came from all 42 states in the U.S. To identify the dimensions of research constructs, Exploratory Factor Analysis (EFA) using a varimax rotation was conducted. As indicated in table 1, these dimensions: arousal, dominance, relevancy, pleasure, and intention to use, suggested by the EFA, explained 82.29% of the total variance with factor loadings ranged from .74 to .89. As a next step, CFA was conducted to validate the dimensions that were identified from the exploratory factor analysis and to further refine the scale. Table 1 exhibits the results of measurement model analysis and revealed a chi-square of 202.13 with degree-of-freedom of 89 (p =.002), GFI of .93, AGFI = .89, CFI of .99, NFI of .98, which indicates of the evidence of a good model fit to the data (Bagozzi and Yi, 1998; Hair et al., 1998). As table 1 shows, reliability was estimated with Cronbach's alpha and composite reliability (CR) for all multi-item scales. All the values met evidence of satisfactory reliability in multi-item measure for alpha (>.91) and CR (>.80). In addition, we tested the convergent validity of the measure using average variance extracted (AVE) by following recommendations from Fornell and Larcker (1981). The AVE values for the model constructs ranged from .74 through .85, which are higher than the threshold suggested by Fornell and Larcker (1981). To examine discriminant validity of the measure, we again followed the recommendations from Fornell and Larcker (1981). The shared variances between constructs were smaller than the AVE of the research constructs and confirm discriminant validity of the measure. The causal model testing was conducted using LISREL 8.72 with a maximum-likelihood estimation method. Table 2 shows the results of the hypotheses testing. The results for the conceptual model revealed good overall fit for the proposed model. Chi-square was 342.00 (df = 92, p =.000), NFI was .97, NNFI was .97, GFI was .89, AGFI was .83, and RMSEA was .08. All paths in the proposed model received significant statistical support except H2. The paths from arousal to pleasure (H1: ${\ss}$=.70; t = 11.44), from information relevancy to intention to use (H3 ${\ss}$ =.12; t = 2.36), from information relevancy to pleasure (H4 ${\ss}$ =.15; t = 2.86), and pleasure to intention to use (H5: ${\ss}$=.54; t = 9.05) were significant. However, the path from dominance to pleasure was not supported. This study investigated consumer intention to use a location-based mobile shopping service (LBMSS) that integrates cognitive and affective responses. Information relevancy was integrated into pleasure-arousal-dominance (PAD) emotional state model as a conceptual framework. The results of the present study support previous studies indicating that emotional responses as well as cognitive responses have a strong impact on accepting new technology. The findings of this study suggest potential marketing strategies to mobile service developers and retailers who are considering the implementation of LBMSS. It would be rewarding to develop location-based mobile services that integrate information relevancy and which cause positive emotional responses.

• Culinary science and hospitality research
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• v.22 no.3
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• pp.121-138
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• 2016

This study is intended to present effective career guidance and direction by identifying the various factors involved in the career preparation behavior for the improvement of the employment rate of culinary and foodservice management major field students. This study was established on the hypothesis of a structural relationship that career decision-making self-efficacy develops career maturity and career preparation behavior on the basis of social cognitive career theory, which was verified through empirical analysis. Out of 450 survey responses from by Culinary and Foodservice Management Major Students, a total of 302 questionnaires were used for the final analysis due to missing values and biased responses(response rate: 83.6%). Collected data were identified using SPSS 16.0 and AMOS 5.0. A higher-order factor model was employed (High-order model) before a confirmatory factor analysis, and this study examined its reliability and validity analysis for hypothesis testing. Career decision-making self-efficacy had positive effects on career maturity(t=6.86, p<0.001) and career preparation behavior(t=3.83, p<0.001), and career maturity had positive effects on career preparation behavior (t=2.79, p<0.01). As a result, all hypotheses were accepted. These results confirmed that strengthening students' faith in themselves with competencies is core competencies with career-related issue can be the driving force that can enable students to develop into mature professionals. Therefore, this study suggests an awareness of the importance of career decision-making self efficacy and proposes a need for a systematic and integrated career counseling program that can improve it.

• Clinical and Experimental Pediatrics
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• v.49 no.12
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• pp.1301-1307
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• 2006

Purpose : Hearing loss is one of the most common birth defects, and early detection and intervention positively impact language/speech and cognitive development. It has been reported that NICU graduates have a high incidence of hearing loss. So we investigated the incidence, risk factors and clinical outcome of hearing loss in NICU graduates. Methods : This study involved neonatal auditory brainstem response (ABR) testing of newborn infants who graduated from the NICU of Kyungpook National University Hospital during a 3-year period (between July 2002 and June 2005) and subsequent follow-up of these infants. Results : ABR evaluations were performed on 474 infants. Of these infants, 64 showed abnormal ABR (13.5 percent). Of 128 ears from these 64 infants, two ears (1.6 percent) and 10 ears (7.8 percent) were classified as severe and profound hearing loss, respectively. The infants with abnormal ABR had higher incidence of prematurity, low birth weight, very low birth weight, neonatal asphyxia, cranio-facial malformation and amikacin treatment over 15 days (P<0.05). In infants with hyperbilirubinemia, the peak level of serum bilirubin, duration of phototherapy and exchange transfusion were not associated with the higher incidence of hearing loss. Follow-up ABR evaluation was performed on 15 infants with abnormal ABR at $8.8{\pm}4.4months$. In follow-up ABR, 80.0% showed improvement or normalization of threshold sensitivity. Conclusion : NICU graduates exhibit high risk for hearing loss. Systemic and effective hearing assessment program is needed for these high risk infants.

• Journal of Yeungnam Medical Science
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• v.24 no.1
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• pp.1-10
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• 2007

The chronic fatigue immune dysfunction syndrome (abbreviated CFIDS or CFS) is a disorder characterized by debilitating fatigue(over 6 months.), along with cognitive, musculoskeletal, and sleep abnormalities. The etiology of this illness is unlikely to be a single agent. Findings to date suggest that physiological and psychological factors work together to predispose and perpetuate the illness. Diagnosis is made difficult by the nonspecific clinical findings and no available diagnostic testing. With no known cause or cure for the chronic fatigue and immune dysfunction syndrome, treatment is based on relieving symptoms and improving the quality of life of affected patients. There is emerging evidence that chronic fatigue syndrome may be familial. In the future, studies will examine the extent to which genetic and environmental factors play a role in the development of chronic fatigue syndrome. Most patients with CFS have psychiatric problems such as a generalized anxiety disorder, or major or minor depression, therefore, these mental health disorders may be correlated with the pathophysiology of the CFS. The treatment for CFS must be individualized, due to the heterogeneity of the CFS population. Also the treatment of CFS is built on a foundation of patient-physician relationship, respect and advocacy.

• School Mathematics
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• v.9 no.1
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• pp.119-139
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• 2007

The purpose of this study is to analyze students' misconception in the teaming of the conic sections with the cognitive and pedagogical point of view. The conics sections is very important concept in the high school geometry. High school students approach the conic sections only with algebraic perspective or analytic geometry perspective. So they have various misconception in the conic sections. To achieve the purpose of this study, the research on the following questions is conducted: First, what types of misconceptions do the students have in the loaming of conic sections? Second, what types of errors appear in the problem-solving process related to the conic sections? With the preliminary research, the testing worksheet and the student interviews, the cause of error and the misconception of conic sections were analyzed: First, students lacked the experience in the constructing and manipulating of the conic sections. Second, students didn't link the process of constructing and the application of conic sections with the equation of tangent line of the conic sections. The conclusion of this study ls: First, students should have the experience to manipulate and construct the conic sections to understand mathematical formula instead of rote memorization. Second, as the process of mathematising about the conic sections, students should use the dynamic geometry and the process of constructing in learning conic sections. And the process of constructing should be linked with the equation of tangent line of the conic sections. Third, the mathematical misconception is not the conception to be corrected but the basic conception to be developed toward the precise one.

• Korean Journal of Clinical Laboratory Science
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• v.51 no.3
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• pp.351-359
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• 2019

Neurocognitive testing commonly uses the MMSE (Mini-Mental State Examination) to evaluate the overall cognitive function of patients at outpatient clinics, but the MMSE has recently been extensively used in the SNSB II (Seoul Neuropsychological Screening Battery II) for making diagnoses. We retrospectively investigated the results of routine neurocognitive tests and the results of the blood tests of 120 elderly patients who had been referred to a South Central Medical Center from 2017 to 2018 and who had been examined at a public health center. These subjects' space-time capability was high on the sub-region of the global deterioration scale (GDS). GDS showed a significant increase as the Na decreased on the electrolyte analysis. The subjects' concentration, their language-based orientation for space and time, their memory, and their scores for the frontal lobe function on GDS showed statistically significant reductions (P<0.001) For the normal and abnormal groups according to the ALT and creatinine levels, the frontal/execute function areas showed statistically significant differences (P<0.001) as well as negative correlation between GDS and ALT (P<0.01). In conclusion, this study provides basic information to develop test items that are important for patient screening and diagnosis, and several routine blood chemistry factors provide basic information for diagnosing and assessing the status and progress of cognitively impaired patients.

• 한국체육학회지인문사회과학편
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• v.57 no.1
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• pp.405-419
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• 2018

This study of the Wholeness Program relevant to dementia behavior and verification of buffering effects. For the purpose of this, among those who were attending Day Care Centers belonging to Seniors Welfare Center of M1 and M2 located in Seoul. Among those who met all these requirements, 40 senior citizens were finally selected. After carrying out a preliminary test to the selected subjects, 20 elderly of Seniors Welfare Center of M1 were randomly placed as an experimental group, while other 20 people of Seniors Welfare Center of M2, as a control group. The Wholeness Program relevant to dementia behavior was carried out from March 14 to May 30 of 2016, for 12 weeks, twice a week. As for the measurement tool, this study depended on the Korean version of Mini Mental State Examination (MMSE-K), the Korean version of Modified Barthel Index (K-MBI) and the Korean version of Geriatric Depression Scale (GDS-K). While the elderly were participating in the Wholeness Program relevant to dementia behavior, they were measured two times in total, before and after the participation in dementia behavior. Based on SPSS-PC (version 21.0), firstly, independent t-test was carried out to understand the homogeneity between the experimental group and the control group. Secondly, matched-pair t-test was carried out between preliminary test and post-test to inquire into the effects of MMSE-K, K-MBI and GDS-K. Thirdly, ANOVA was conducted to confirm the variation (change amount) between preliminary test and post-test. According to the survey results, the Wholeness Program relevant to dementia behavior of the elderly shows overall effects in all spheres of changes of cognitive ability (MMSE-K), changes of physical capacity (K-MBI) and changes of depression level (GDS-K).