• Journal of Life Science
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• v.31 no.10
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• pp.913-921
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• 2021

Limb-girdle muscular dystrophy (LGMD) which is characterized by progressive muscle weakening of the hip and shoulder shows both dominant and recessive inheritances with many pathogenic genes including TTN. This study performed to identify genetic causes of a male patient with late onset (45 years old) autosomal recessive LGMD and atrial flutter. By application of the whole exome sequencing, we identified bi-allelic variants of TTN gene in the patient. One allele had a single missense variant of [c.24124G>T (p.V8042F)], while the other allele consisted of three missense variants of [c.29222G>C (p.R9741P) + c.67490A>G (p.H22497R) + c.75376C>T (p.R25126C)]. The p.V8042F allele was transmitted from his mother, while the other haplotype allele was putatively transmitted from his father. His two unaffected sons had only the p.R9741P. These variants have been not reported or rarely reported in the public human genome databases (1,000 Genome, gnomAD, and KRGDB). Most variants were located in the highly conserved immunoglobulin or fibronectin domains and were predicted to be pathogenic by the in silico analyses. The TTN giant protein plays a key role in muscle assembly, force transmission at the Z-line, and maintenance of resting tension in the I-band. In conclusion, we think that these bi-allelic compound heterozygous mutations may play a role as the genetic causes of the LGMD phenotype.

• Journal of Nutrition and Health
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• v.54 no.3
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• pp.277-291
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• 2021

Purpose: This study was undertaken to identify the alcohol drinking status of industrial workers, their health care practice, and dietary behavior, as well as their nutrient intake. Methods: In July 2019, 220 male subjects working in the Chungnam area were enrolled in the study. Their alcohol drinking status was evaluated by applying the Alcohol Use Disorder Identification-K (AUDIT-K) system. Demographic characteristics, status of health care practice, and dietary behaviors were assessed using a self-administered questionnaire; nutrient intakes were analyzed using 24-hour recalls. Data were analyzed by applying χ²-test, ANOVA, Duncan test, and Pearson's correlation analysis with SPSS v. 25.0. Results: Workers were classified by their alcohol drinking status as 'normal' (84, 38.2%), 'problem drinker' (45, 20.5%), 'alcohol dependence I' (60, 27.3%), and 'alcohol dependence II' (31, 16.0%). The alcohol drinking status showed significant differences with age (p < 0.05), monthly income (p < 0.05), smoking status (p < 0.05), and need for weight control (p < 0.05). Moreover, increased alcohol intake resulted in significantly decreased levels of health care practice and dietary behaviors (p < 0.05, p < 0.01, respectively). The energy intake was highest in the 'alcohol dependence I' group, followed by 'alcohol dependence II', 'problem drinker', and 'normal drinker' (p < 0.05). Intakes of vitamin E, vitamin C, and niacin in the 'alcohol dependence I' group were found to be higher than the other groups (p < 0.05). A negative correlation was obtained between alcohol drinking status, health care practice, and dietary behaviors, whereas a positive correlation was determined between alcohol drinking status, energy and water intakes. Conclusion: Considering these results, we conclude the necessity to consider nutritional and alcoholic education programs for improving the quality of work life of industrial workers, based on their alcohol drinking status.

• Journal of fish pathology
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• v.33 no.2
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• pp.111-118
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• 2020

The genus Edwardsiella belonging to the family Enterobacteriaceae is a member of Gram-negative rod-shaped bacteria that cause disease in diverse aquatic organisms such as fish, amphibians and reptiles as well as avians and mammals including human throughout the world. This genus had been composed of three species, E. hoshinae, E. ictaluri and E. tarda, but recent researches erected two novel species, E. anguillarum and E. piscicida that were conventionally identified as E. tarda. In this study, we isolated seven strains belonging to the genus Edwardsiella from freshwater fishes that had been reared at inland fish farms in South Korea and investigated their biochemical characteristics and molecular phylogenetic relationships. The seven strains showed typical characteristics of four Edwardsiella species, E. anguillarum, E. ictaluri, E. piscicida and E. tarda, by biochemical analyses of Gram staining, indole and hydrogen sulfide (H2S) production, and API (Analytic Profile Index) 20E test. Molecular phylogenetic analyses inferred from DNA sequence data of both 16S ribosomal RNA (rRNA) and DNA gyrase subunit B (gyrB) genes were congruent with the biochemical characteristics. As a result, both biochemical and molecular phylogenetic analyses identified four strains isolated from three Anguilla species as E. anguillarum, E. piscicida and E. tarda, two strains from Pelteobagrus fulvidraco and Silurus asotus as E. ictaluri, and one strain from Moroco oxycephalus as E. piscicida. In this study, we isolated and successfully identified recently newly erected species, E. anguillarum and E. piscicida in addition to historically notorious pathogenic species, E. ictaluri and E. tarda. In the future study, systematic and comprehensive monitoring of the four Edwardsiella species are required for studying differences in pathogenicity among freshwater fishes.

• The Korean Society of Law and Medicine
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• v.23 no.3
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• pp.3-44
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• 2022

As a result of a close review focusing on the case of obstruction of epidemiological investigation by a religious group A in Daegu, which was a problem when the pandemic of Covid-19 infection began in Korea around February 2, 2020, when an epidemiological investigator requested a specific group to submit a list, While there have been cases where an act of not responding or submitting an edited omission list was sentenced to the effect that the act did not fall under an epidemiological investigation, in the case of non-submission of the visitor list for the B Center, even though a 'list of visitors' was requested. Regarding the fact of refusal without a justifiable reason, 'providing a list of persons entering the building is a key factual act that forms a link between epidemiological investigations accompanying an epidemiological investigation, and refusing to do so is also an act of refusal and obstruction of an epidemiological investigation. There are cases where it is possible to demand criminal punishment. Regardless of whether the request for submission of the membership list falls under the epidemiological investigation, there are cases in which the someones' actions correspond to the refusal or obstruction of the epidemiological investigation. A lower court ruling that if an epidemiological investigation is rejected or obstructed as a result of interfering with factual acts accompanying an epidemiological investigation, comprehensively considering whether or not the list has been diverted for purposes other than epidemiological investigation, the logic is persuasive. Epidemiological investigations such as surveys and human specimen collection and testing are conducted for each infectious disease patient or contact confirmed as a result of the epidemiological investigation, but epidemiological investigations conducted on individual individuals cannot exist independently of each other, and the This is because the process of identification and tracking is essential to an epidemiological investigation, and if someone intentionally interferes with or rejects the process of confirming this link, it will result in direct, realistic, and widespread interference with the epidemiological investigation. In this article, ① there are differences between an epidemiological investigation and a request for information provision under the Infectious Disease Control and Prevention Act, but there are areas that fall under the epidemiological investigation even in the case of a request for information, ② Considering the medical characteristics of COVID-19 and the continuity of the epidemiological investigation, the epidemiological investigator the fact that the act of requesting a list may fall under the epidemiological investigation, ③ that the offense of obstructing the epidemiological investigation in certain cases may constitute 'obstruction of Performance of Official Duties by Fraudulent Means', and ④ rejecting the request for information provision under the Infectious Disease Control and Prevention Act from September 29, 2020 In this case, it is intended to be helpful in the application of the Infectious Disease control and Prevention Act and the practical operation of epidemiological investigations in the future by pointing out the fact that a new punishment regulation of imprisonment or fine is being implemented.

• Journal of the Korean Burn Society
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• v.24 no.2
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• pp.21-29
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• 2021

Purpose: Frostbite is a hazard to people exposed to cold environments. With the progression of modern industrial development and change of leisure behavior encountering cold environments, frequent accidental exposure to frostbite injury during work and human behavior is increasing, and the predisposing factors of frostbite were greatly changed than before. The purpose of this study was to make epidemiological analysis, and to review the treatment outcomes of frostbite. Methods: From March 2010 to February 2021, this study has included 27 patients with second- to third-degree frostbite injuries in Advanced Burn Reconstruction Center, Bundang Jesaeng Hosptial. A retrospective study was made about the distribution of age, gender, predisposing factors, prevalent area, type of managements, and the length of treatment period. Results: In our institution, acute management of frostbite patients has included rewarming, anticoagulation therapy (acetylsalicylic acid), and agents to improve vascular perfusion (lipo-prostaglandin E1 [Eglandin^®]). The 25 frostbite patients with second-degree frostbite (92.6%) were successfully managed by the conservative treatment alone with a mean of 20.3 days healing time. Two patients with third-degree frostbite (7.4%) also showed good outcomes after surgical reconstruction with a mean of 59 days healing time. In our clinical experiences of third-degree frostbite, definitive surgical reconstruction should be recommended to wait for more than 4~6 weeks for identification of clear demarcation of necrotic tissue caused by frostbite. In this study, 43 frostbite injuries site in 27 frostbite patients occurred. Among them, 15 patients (55.6%) had multiple-site frostbite injury. The most common predisposing cause of frostbite was refrigerant gas accidents (44.4%), followed by outdoor activity in cold environments (40.8%), misapplying ice pack for treatment purposes (7.4%), barefoot walking on the cold ground (3.7%), and loss of consciousness in cold grounds (3.7%). The most prevalent sites of frostbite injuries revealed as the hand (58.1%), followed by the foot (32.6%), face (7.0%), and abdomen (2.3%). And in the winter season from the November to March, the incidence rate of frostbite injuries was high at 74.1%. Conclusion: This study included 27 frostbite patients with 43 frostbite sites since last decade in a single institution at the community hospital. The frostbite patients with second-degree frostbite (92.6%) were successfully healed by the conservative treatment alone with a mean of 20.3 days healing time. The most common predisposing cause of frostbite was refrigerant gas accidents (44.4%), followed by outdoor activity in cold environments, etc. The most prevalent site of frostbite injuries was the hand (58.1%). And the most prevalent seasonal incidence of frostbite was from November to March (74.1%).

• Journal of the Korean Society of Environmental Restoration Technology
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• v.25 no.4
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• pp.33-47
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• 2022

Wild boars(Sus scrofa) are expanding their range of behavior as their habitats change. Appearing in urban centers and private houses, it caused various social problems, including damage to crops. In order to prevent damage and effectively manage wild boars, there is a need for ecological research considering the characteristics and movement characteristics of wild boars. The purpose of this study is to analyze home range and identify land cover types in key areas through tracking wild boars, and to predict the movement connectivity of wild boars in consideration of previous studies and their preferred land use characteristics. In this study, from January to June 2021, four wild boars were captured and tracked in Jinju city, Gyeongsangnam-do, and the preferred land cover type of wild boars was identified based on the MCP 100%, KDE 95%, and KDE 50% results. As a result of the analysis of the home range for each individual, it was found that 100% of MCP was about 0.68km², 2.77km², 2.42km², and 0.16km², and the three individuals overlapped the home range, refraining from habitat movement and staying in the preferred area. The core areas were analyzed as about 0.55km², 2.05km², 0.82km², and 0.14km² with KDE 95%., and about 0.011km², 0.033km², 0.004km², and 0.003km² with KDE 50%. When the preferred land cover type of wild boar was confirmed based on the results of analysis of the total home range area and core area that combined all individuals, forests were 55.49% (MCP 100%), 54.00% (KDE 95%), 77.69% (KDE 50%), respectively, with the highest ratio, and the urbanization area, grassland, and agricultural area were relatively high. A connectivity scenario was constructed in which the ratio of the land cover type preferred by the analyzed wild boar was reflected as a weight for the resistance value of the connectivity analysis, and this was compared with the connectivity evaluation results analyzed based on previous studies and wild boar characteristics. When the current density values for the wild boar movement data were compared, the average value of the existing scenario was 2.76, the minimum 1.12, and the maximum 4.36, and the weighted scenario had an average value of 2.84, the minimum 0.96, and the maximum 4.65. It was confirmed that, on average, the probability of movement predictability was about 2.90% better even though the weighted scenario had movement restrictions due to large resistance values. It is expected that the identification of the movement route through the movement connectivity analysis of wild boars can be suggested as an alternative to prevent damage by predicting the point of appearance. In the future, when analyzing the connectivity of species including wild boar, it is judged that it will be effective to use movement data on actual species.

• Development and Reproduction
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• v.12 no.3
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• pp.289-296
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• 2008

BPES (Blepharophimosis/Ptosis/Epicanthus inversus Syndrome) is an autosomal dominant disorder caused by mutations in FOXL2. Affected individuals have premature ovarian failure (POF) in addition to small palpebral fissures, drooping eyelids, and broad nasal bridge. FOXL2 is a member of the forkhead family transcription factors. In FOXL2-deficient ovaries, granulosa cell differentiation dose not progress, leading to arrest of folliculogenesis and oocytes atresia. Using yeast two-hybrid screening of rat ovarian cDNA library with FOXL2 as bait, we found that small ubiquitin-related modifier (SUMO)-conjugating E2 enzyme UBE2I protein interacted with FOXL2 protein. UBE2I also known as UBC9 is an essential protein for processing SUMO modification. Sumoylation is a form of post-translational modification involved in diverse signaling pathways including the regulation of transcriptional activities of many transcriptional factors. In the present study, we confirmed the protein-protein interaction between FOXL2 and UBE2I in human cells, 293T, by in vivo immunoprecipitation. In addition, we generated truncated FOXL2 mutants and identified the region of FOXL2 required for its association with UBE2I using yeast-two hybrid system. Therefore, the identification of UBE2I as an interacting protein of FOXL2 further suggests a presence of novel regulatory mechanism of FOXL2 by sumoylation.