• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.99-106
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• 2018

Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.19 no.1
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• pp.12-19
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• 2019

Purpose: Isolated methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder of propionate metabolism. There are two subtypes of MMUT gene defects. $Mut^0$ represents complete loss of methylmalonyl-CoA mutase (MCM) activity while mut- is associated with residual MCM activity, which can be stimulated by hydroxocobalamin (OHCbl) supplementation. The objective of this study is to investigate cobalamin responsiveness and mutations present in Korean MMA population. Methods: We evaluated 10 MMA patients using somatic cell complementation analysis on their fibroblasts to measure MCM activity and vitamin B12 responsiveness for the optimal treatment. MMUT gene was sequenced to identify the MMA mutations. Results: For all patients, the incorporation of $[^{14}C]-propionate$ was low, and there was no response to OHCbl. The incorporation of $[^{14}C]-methyltetrahydrofolate$ and $[^{57}Co]-CNCbl$ fell within the normal range. There was adequate synthesis of methylcobalamin while the synthesis of adenosylcobalamin was low. The complementation analysis showed all patients were $mut^0$. The sequence analysis identified 12 different MMUT mutations, including 2 novel mutations, p.Gln267Ter and p.Ile697Phe, were identified. All the patients in this study had neonatal onset of symptoms, belonged to $mut^0$ complementation class, and as a result, showed no cobalamin responsiveness. Conclusion: No Korean MMA patient showed cobalamin responsiveness.

• Journal of The Korean Society of Grassland and Forage Science
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• v.38 no.4
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• pp.273-279
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• 2018

This experiment was conducted to investigate the effects of individual management and group management of Jeju cross-bred horses on the physiological characteristics, productivity, and characteristics of the loin muscle of the horse meat. Sixteen herds of Jeju cross-bred horses older than 44 months were selected as experimental subjects. The experiment was conducted by dividing the herds into eight herds for individual management and another eight herds for group management. Herds were fed with concentrated feed of 2.5% of the body weight for four times a day and roughage and water were fed ad libitum. In the 12th week, the intestinal pH was statistically significantly lower with group management than with individual management (p<0.05). However, no symptoms of colic were observed. With regard to the general composition of the loin muscle, fat content was a statistically significant difference between the 7.83% with individual management and 5.65% with group management (p<0.05), indicating that individual management is more effective than group management in terms of fattening. In conclusion, feeding a concentrated feed at a level of 2.5% of body weight with individual management during fattening of Jeju cross-bred horses could be utilized as a fattening method.

• Journal of The Korean Society of Grassland and Forage Science
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• v.38 no.4
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• pp.224-230
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• 2018

This study was conducted to investigate the effects of concentrate feeding frequency on weight change and the colic of Jeju cross-bred horses. Around thirty-six old Jeju cross-bred horses were divided into three groups and were investigated by feeding the concentrate feed at 2.5% of their body weight 2 times, 3 times, or 4 times daily. Although the total weight gain and daily weight gain for the different feeding frequencies were higher with feeding concentrates 4 times daily compared with the other treatment groups, there was no statistically significant difference between the groups (p>0.05). Rectal temperatures were above the normal range in weeks 11 to 12, but there was no statistically significant difference between the groups (p>0.05). Fecal pH was below the normal range in weeks 1 to 12, but there were no colic symptoms with any of the treatments and there was no statistically significant difference between the groups (p>0.05). When feeding concentrate feed at 2.5% of body weight, it was assumed that trying to feed it several times per day would help to prevent colic; however, there was no difference in weight gain, blood characteristics, and physiological characteristics in accordance with the number of feeding times.

• Journal of agricultural medicine and community health
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• v.43 no.4
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• pp.258-269
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• 2018

Objectives: There was an outbreak of foodborne and waterborne disease among high school students at Okcheon in June, 2018. First attack occurred June $5^{th}$ but seven days later it was notified. The purpose of this investigation was to evaluate the pathogen of outbreak and cause of delayed notification. Methods: First, we did a questionnaire survey for 61 cases and 122 controls to find what symptoms they had and whether they ate foods or drank water from June $2^{nd}$ to June $12^{th}$. Second, we investigated the environment of cafeteria and drinking water. Third, we examined specimen of cases and environment to identify bacteria or virus. Results: Attack rate of this outbreak was 7.8%. Drinking water was strongly suspected as a source of infection in questionnaire survey but we could not find the exact time of exposure. Norovirus was identified in specimen of cases (2 students), drinking water (at main building and dormitory) and cafeteria (knife, dishtowel, hand of chef) Conclusions: We decided norovirus as the pathogen of this outbreak based on the clinical features of cases with diarrhea vomiting, abdominal pain and recovery within 2 or 3 days after onset, outbreak due to drinking water and microbiologic examination, And the cause of delayed notification might be the non-existence of the nurse teacher at that time and the lack of understanding of teachers on immediate notification under the outbreak. To prevent the delayed notification, notification system about outbreak of foodborne and waterborne disease in school is needed to be improved.

• Sleep Medicine and Psychophysiology
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• v.26 no.1
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• pp.23-32
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• 2019

Objectives: Insomnia is not only the most common sleep-related disorder, but also is one of the most important. Knowledge of the comorbidities of insomnia is essential for proper treatment including pharmacological and non-pharmacological methods to prevent disease chronification. This study aimed to determine sleep clinic patients' knowledge of insomnia. Methods: This study recruited 44 patients (24 males and 20 females; mean age $54.11{\pm}16.30years$) from the sleep clinic at National Center for Mental Health. All subjects were asked to complete a self-report questionnaire about their reasons for visiting a sleep clinic and about their knowledge of treatment and comorbidities of insomnia. Results: The reasons for visiting the sleep clinic were insomnia symptoms of daytime sleepiness, irregular sleeping time, nightmares, snoring, and sleep apnea, in that order. Of the responders, 72.7% had a comorbidity of insomnia, and 22.7% showed high-risk alcohol use. In addition, 70.5% of responders chose pharmacological treatment of insomnia as the first option and reported collection of information about treatment of insomnia mainly from the internet and medical staff. More than half (52.3%) of the respondents reported that they had never heard about non-pharmacological treatments of insomnia such as cognitive behavioral treatment (CBT-I) or light therapy. The response rate about comorbidities of varied, with 75% of responders reporting knowledge of the relation between insomnia and depression, but only 38.6% stating awareness of the relation between insomnia and alcohol use disorder. Of the total responders, 68.2% were worried about hypnotics for insomnia treatment, and 70% were concerned about drug dependence. Conclusion: This study showed that patients at a sleep clinic had limited knowledge about insomnia. It is necessary to develop standardized insomnia treatment guidelines and educational handbooks for those suffering from insomnia. In addition, evaluation of alcohol use disorders is essential in the initial assessment of sleep disorders.

• Journal of Food Hygiene and Safety
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• v.37 no.3
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• pp.189-197
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• 2022

Asthma is a chronic inflammatory disease characterized by recurring symptoms, airflow obstruction, and bronchial hyper-responsiveness. The onset of asthma for most patients begins early in life, and current asthma treatment with anti-inflammatory agents can have adverse effects, eventually leading to impaired quality of life. In the pathogenesis of asthma, macrophages and basophils play a vital role during progression. Macrophages not only induce inflammation by secreting inflammatory cytokines but also promote DNA damage and mucus production through nitric oxide (NO) production. Basophils enhance eosinophil recruitment and aggravate asthma through the FcεRIα receptor with high affinity for histamine and IgE. Therefore, in this study, we investigated whether the activation of macrophages and basophils is suppressed by the individual extracts of 28 natural products. RAW 264.7 cells (mouse macrophages) were treated with the natural products in LPS, and 4 natural product extracts resulted in decreased NO production. In β-hexosaminidase assay using RBL-2H3 cells (rat basophils), 19 natural product extracts decreased β-hexosaminidase production. In NO production and β-hexosaminidase assay using macrophages and basophils, 3 natural product extracts (Plantago asiatica, Centella asiatica, and Perilla frutescens var. japonica) significantly inhibited NO production and β-hexosaminidase release. Overall, we examined the inhibitory effects of 28 natural product extracts on macrophage and basophil activity, and the findings demonstrated the potential of natural product extracts for treating asthma and macrophage- and basophil-related diseases.

• Pediatric Infection and Vaccine
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• v.29 no.3
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• pp.131-140
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• 2022

Purpose: Since the coronavirus disease 2019 (COVID-19) pandemic began, new variants of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) have emerged, and distinct epidemic waves of COVID-19 have occurred for an extended period. This study aimed to analyze the clinical and epidemiological characteristics of children with COVID-19 from the third wave to the middle of the fourth epidemic wave in Korea. Methods: We retrospectively reviewed the medical records of hospitalized patients aged ≤18 years with laboratory-confirmed COVID-19. The study periods were divided into the third wave (from November 13, 2020 to July 6, 2021) and the fourth wave (from July 7 to October 31, 2021). Results: Ninety-three patients were included in the analysis (33 in the third and 60 in the fourth waves). Compared with the third wave, the median age of patients was significantly older during the fourth wave (6.7 vs. 2.8 years, P=0.014). Household contacts was reported in 60.2% of total patients, similar in both periods (69.7 vs. 55.0%, P=0.190). Eighty-one (87.1%) had symptomatic SARS-CoV-2 infection. Among these, 10 (12.3%) had no respiratory symptoms. Anosmia or ageusia were more commonly observed in the fourth epidemic wave (10.7 vs. 34.0%, P=0.032). Most respiratory illness were upper respiratory tract infections (94.4%, 67/71), 4 had pneumonia. The median cycle threshold values (detection threshold, 40) for RNA-dependent RNA polymerase (RdRp) and envelope (E) genes of SARS-CoV-2 were 21.3 and 19.3, respectively. There was no significant difference in viral load during 2 epidemic waves. Conclusions: There were different characteristics during the two epidemic waves of COVID-19.

• Research in Plant Disease
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• v.29 no.3
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• pp.276-285
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• 2023

This work investigated the viral infection in jujube plants in Korea. A total of 61 samples with the symptoms of putative viral infection were collected from experimental fields and orchards. Thereafter, the samples were subjected to metatranscriptome analysis, Reverse transcription polymerase chain reaction analysis, and nucleotide sequence analysis. These analyses identified the presence of two DNA viruses, jujube-associated badnavirus (JuBV), jujube mosaic-associated virus (JuMaV), and one RNA virus, jujube yellow mottle-associated virus (JYMaV). All samples collected were confirmed to be infected by at least one of the three viruses, with most showed multiple infections. The detection rates of JuBV, JYMaV, and JuMaV were 100%, 90.2%, and 8.2%, respectively. Only three combinations of viral infections were found: 9.8% of samples showed single infection of JuBV, 82.0% showed double infection of JuBV+JYMaV, and 8.2% showed triple infection of JuBV+JYMaV+JuMaV. Sequence analysis of the three viruses showed very high homology with respective virus isolates reported in China. This study is predicted to provide fundamental data to produce virus-free jujube seedlings and represents the first report of JuBV and JuMaV infection in Korea.

• Journal of Service Research and Studies
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• v.13 no.1
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• pp.63-75
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• 2023

Due to the development of industry, interest in air pollutants has increased. Air pollutants have affected various fields such as environmental pollution and global warming. Among them, environmental diseases are one of the fields affected by air pollutants. Air pollutants can affect the human body's skin or respiratory tract due to their small molecular size. As a result, various studies on air pollutants and environmental diseases have been conducted. Asthma, part of an environmental disease, can be life-threatening if symptoms worsen and cause asthma attacks, and in the case of adult asthma, it is difficult to cure once it occurs. Factors that worsen asthma include particulate matter and air pollution. Asthma is an increasing prevalence worldwide. In this paper, we study how air pollutants correlate with the number of emergency room admissions in asthma patients and predict the number of future asthma emergency patients using highly correlated air pollutants. Air pollutants used concentrations of five pollutants: sulfur dioxide(SO₂), carbon monoxide(CO), ozone(O₃), nitrogen dioxide(NO₂), and fine dust(PM₁₀), and environmental diseases used data on the number of hospitalizations of asthma patients in the emergency room. Data on the number of emergency patients of air pollutants and asthma were used for a total of 5 years from January 1, 2013 to December 31, 2017. The model made predictions using two models, Informer and LTSF-Linear, and performance indicators of MAE, MAPE, and RMSE were used to measure the performance of the model. The results were compared by making predictions for both cases including and not including the number of emergency patients. This paper presents air pollutants that improve the model's performance in predicting the number of asthma emergency patients using Informer and LTSF-Linear models.