• Journal of Genetic Medicine
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• v.2 no.1
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• pp.23-26
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• 1998

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder which has been clinically shown to cause progressive weakness and result in atrophy of the facial muscles, shoulder girdle and upper arm muscles. The responsible gene for the FSHD has been located on chromosome 4q35-qter. The probes p13E-11 and pFR-1 detect DNA rearrangements associated with FSHD as under 28 kb DNA fragment in genomic southern analysis digested with EcoRI and the fragment contains 3.3 kb Kpn I tandem repeats. In this study, 4 fetuses with a family history of FSHD were analysed by genomic southern hybridization analysis with probes to determine whether they carried the deleted region. Of the 4 fetuses, three of them had mothers who were FSHD patients and the other one had a father affected with FSHD. After 10-11 weeks of gestation, we performed chorionic villi sampling and extracted DNA from uncultured and cultured tissue cells for the direct DNA analysis. The result of the southern analysis showed two fetuses having received about 15-18 kb of deleted genes from the father and the mother respectively, and found to be FSHD patients. The other two fetuses were shown to have two normal alleles from the parents and found to be normal. Two pregnancies which were determined to be normal were carried to term delivering two healthy babies.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.18
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• pp.7763-7768
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• 2014

Background: Gastritis and gastric cancer are the most common diseases in the Kazakh population. Polymorphisms in genes coding of cytokines have been played important role with gastric disease risk. The risk alleles of cytokines in patients with gastritis can predict the risk of developing gastric cancer. The aim of this study was to investigate cytokine gene polymorphisms as risk factors for the development of gastritis in a case-control study with gastritis patients and healthy individuals from the Kazakh ethnic group, living in North Kazakhstan. Materials and Methods: The polymerase chain reaction followed by direct sequencing were used for detection of two functional polymorphisms in the IL1 gene family, and TaqMan SNP Genotyping Assay Sets were applied for three potentially functional polymorphisms in the IL10 gene, and one in the TNFA promoter. Results: Association analysis of studied allelic variants and the development of gastritis in H. pylori-positive patients showed that IL1B -31C/C, IL1B -511T/T and IL1RN -2/2 allelic variants were associated with development of gastritis (OR=1.8 (1.07-3.16), p=0.025; OR=1.7 (1.04-2.99), p=0.035, and OR=4.92 (2.45-9.85), p<0.001) respectively. Haplotype C-Т that combines both homozygous allelic variants of IL1B gene also had a statistically significant association with slightly higher OR (OR: 1.43, 95% CI: 1.08-1.88). Conclusions: The data from the current study showed that the genotype IL-1B -511Т/-31C-IL1-RN-2 and H. pylori infection increase risk of gastritis in the Kazakh population. That genotype combination might be a factor increasing the risk of developing gastric cancer.

• Biomolecules & Therapeutics
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• v.32 no.1
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• pp.146-153
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• 2024

The LEPR (leptin receptor) genotype is associated with obesity. Gut microbiome composition differs between obese and non-obese adults. However, the impact of LEPR genotype on gut microbiome composition in humans has not yet been studied. In this study, the association between LEPR single nucleotide polymorphism (rs1173100, rs1137101, and rs790419) and the gut microbiome composition in 65 non-obese Korean adults was investigated. Leptin, triglyceride, low-density lipoprotein cholesterol, and high-density lipoprotein cholesterol levels were also measured in all participants. Mean ± SD (standard deviation) of age, body mass index, and leptin hormone levels of participants was 35.2 ± 8.1 years, 21.4 ± 1.8 kg/m², and 7989.1 ± 6687.4 pg/mL, respectively. Gut microbiome analysis was performed at the phylum level by 16S rRNA sequencing. Among the 11 phyla detected, only one showed significantly different relative abundances between LEPR genotypes. The relative abundance of Candidatus Saccharibacteria was higher in the G/A genotype group than in the G/G genotype group for the rs1137101 single nucleotide polymorphism (p=0.0322). Participant characteristics, including body mass index, leptin levels, and other lipid levels, were similar between the rs1137101 G/G and G/A genotypes. In addition, the relative abundances of Fusobacteria and Tenericutes showed significant positive relationship with plasma leptin concentrations (p=0.0036 and p=0.0000, respectively). In conclusion, LEPR genotype and gut microbiome may be associated even in normal-weight Korean adults. However, further studies with a greater number of obese adults are needed to confirm whether LEPR genotype is related to gut microbiome composition.

• Nutrition Research and Practice
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• v.11 no.3
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• pp.232-239
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• 2017

BACKGROUND/OBJECTIVES: Increased consumption of instant noodles has recently been reported to be positively associated with obesity and cardiometabolic syndrome in South Korea, which has the highest per capita instant noodle consumption worldwide. This study aimed to investigate the association between instant noodle consumption and cardiometabolic risk factors among college students in Seoul. SUBJECTS/METHODS: The study subjects consisted of 3,397 college students (1,782 male; 1,615 female) aged 18-29 years who participated in a health checkup. Information on instant noodle consumption was obtained from the participants' answers to a question about their average frequency of instant noodle intake over the 1 year period prior to the survey. RESULTS: Statistical analysis using a general linear model that adjusted for age, body mass index, gender, family income, health-related behaviors, and other dietary factors important for cardiometabolic risk, showed a positive association between the frequency of instant noodle consumption and plasma triglyceride levels, diastolic blood pressure, and fasting blood glucose levels in all subjects. Compared to the group with the lowest frequency of instant noodle intake (${\leq}1/month$), the odds ratio for hypertriglyceridemia in the group with an intake of ${\geq}3/week$ was 2.639 [95% confidence interval (CI), 1.393-5.000] for all subjects, while it was 2.149 (95% CI, 1.045-4.419) and 5.992 (95% CI, 1.859-21.824) for male and female students, respectively. In female students, diastolic blood pressure was also higher among more frequent consumers of instant noodles. CONCLUSIONS: Our results suggest that frequent consumption of instant noodles may be associated with increased cardiometabolic risk factors among apparently healthy college students aged 18-29 years.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.8
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• pp.4059-4062
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• 2016

Frequencies of polymorphisms of genes BRCA1 and ТР53 in breast cancer (BC) patients with a BC family history and radiation history were assessed and compared in the Semey region of Kazakhstan. The study included 60 women directly irradiated by the activities of the Semipalatinsk test site with a calculated effective equivalent dose of 500 mSv and their first generation descendants (group BC+Her+Exp); 65 women with family BC and absence of radiological history - the effective equivalent dose due to anthropogenic sources not exceeding 50 mSv (group BC+Her-Exp). The comparison group consisted of 65 women patients with breast cancer without family and radiological history (BC-Her-Exp). The control group comprised 60 women without breast cancer and without family and radiological history (nonBC). We carried out the genotyping of the polymorphisms c.2311T>C, c.4308T>C and 5382insC of the BRCA1 gene and rs1042522 of the ТР53 gene. The frequency of the polymorphism c.2311T>C was significantly higher in patients of the group BC+Her+Exp than in healthy women, and of the polymorphism 5382insC in BC+Her+Exp compared to all other groups. The frequency of the rs1042522 polymorphism of ТР53 was significantly higher in all groups of patients with breast cancer compared with the control group. Differences between groups of women with breast cancer were significant only in BC+Her+Exp vs. BC+Her-Exp. Combinations of polymorphisms of the genes BRCA1 and TP53 predominated in women with a family and radiological history.

• Journal of Korean Home Economics Education Association
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• v.26 no.4
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• pp.51-73
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• 2014

The purpose of this study is to develop a family life educational program and verify the effectiveness hereof in order to improve a family life and enhance practice ability for marriage immigrant women. The content of family life educational program was composed based on the family life education lesson of the home economics textbooks. The adequacy of the program content was verified by the two experts. The study subjects were the 14 marriage immigrant women living in J-gu of Seoul and the program was conducted for 3 days from September 16 to October 7 2014 at the Seoul J Multicultural Family Support Center. As for program evaluation, this study conducted both an objective evaluation and subjective evaluation (semi-structured interview and survey). The author of this study composed the questions of the objective evaluation on the basis of the previous studies and home economics textbooks. The aforementioned two experts verified the questions thereof. The important findings of this study are as follows. First, this study developed the family life educational program that consisted of a total of 8 rounds on the basis of "the happy family life education lesson led by family". Second, this study ensured that the family life educational program for marriage immigrant women would help understand the Korean traditional culture and also the family culture of their homeland. Also, this study aimed to allow the study subjects to develop an attitude to respect the diversity of family life culture. Third, it was found that the effectiveness of the program was statistically significant in the objective evaluation through the ex ante and ex post assessment as a result of the program effectiveness test. From the subjective evaluation, all the participants had a high degree of satisfaction with more than 4.0 points in all of the following areas: program objective achievement, adequacy of program contents and activities and program operation. As a result of the subjective evaluation through the semi-structured interview, this study confirmed a high level of desire for family life education through the willingness of marriage immigrant women to continue to learn the in-depth contents related to family life education. The above findings of this study imply that a family life educational program based on home economics can play a critical role in implementing a healthy family life education for marriage immigrant women.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.19
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• pp.8499-8502
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• 2014

The incidence rate of breast cancer in developed countries is almost three-fold higher than in developing countries. Iran has had one of the lowest incidence rates for breast cancer in the world, but during the recent decades a marked increase has been seen. The purpose of this study was to investigate some established risk factors of breast cancer in Iranian women. A study of 11,850 women participating in abreast screening program was conducted. The 197 women diagnosed with breast cancer and 11,653 healthy women were compared. Logistic regression was performed to investigate associations of reproductive and anthropometric factors with breast cancer risk. Family history of breast cancer (OR=1.94, 95%CI=1.35-2.78), occupation (OR= 1.65,95%CI=1.20-2.25), education level (OR=0.50,95%CI=0.28-0.91), parity (OR=0.27, 95%CI=0.12-0.59), menopausal status (OR=3.15, 95%CI=2.35-4.21), age at menarche (OR=0.33, 95%CI=0.15-0.70), and age at the first pregnancy (OR=4.10, 95%CI=1.13-14.77) were related to the risk of breast cancer. Decrease in parity may to some extent explain the rising trend of incidence of breast cancer incidence in Iranian women.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.16 no.2
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• pp.104-115
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• 2013

Purpose: To estimate the prevalence of dietary supplement (DS) use, investigate the related factors associated with DS use among preschoolers and support the adequate nutrition. Methods: We conducted a questionnaire survey of mothers of children aged between 1 and 6 years who visited pediatric clinics in 3 Korean cities (Jeonju, Suncheon, Jeongeup) between October and November 2012 at Presbyterian Medical Center. The responses from 929 questionnaires were analyzed. Results: Approximately 45.1% of the preschoolers used DS in the past month. The following factors were associated with greater use of DS: older age (p<0.001), whether or not the preschoolers attended kindergarten (p<0.001), higher mother's concern about the nutritional facts (p<0.001), whether or not the mother use DS (p<0.001), whether or not the mother counsel with a doctor or pharmacist about DS use (p<0.001). Vitamin mineral supplements (77.5%) were the most commonly used DS among the preschoolers, followed by ginseng (49.3%) and probiotics (25.6%). Additionally, of the DS users, 95.9% gave DS to their healthy children. Of the users and non-users, 97.6% and 62.2%, respectively, indicated that they would like to have their children take DS. The information on DS was obtained from family or friends in 48.2% of the DS users and from doctors in only 6.1%. Conclusion: Approximately half of the preschoolers in our study used DS, which might not have been medically indicated for most of them. Therefore, the role of professionals in counseling on desirable diet behaviors and DS use for preschoolers is warranted.

• Safety and Health at Work
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• v.4 no.3
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• pp.166-176
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• 2013

Background: Effective policy implementation is essential for a healthy workplace. The Ryan-Kossek 2008 model for work-life policy adoption suggests that supervisors as gatekeepers between employer and employee need to know how to support and communicate benefit regulations. This article describes a workplace intervention on a national employee benefit, Family and Medical Leave Act (FMLA), and evaluates the effectiveness of the intervention on supervisor knowledge, awareness, and experience with FMLA. Methods: The intervention consisted of computer-based training (CBT) and a survey measuring awareness and experience with FMLA. The training was administered to 793 county government supervisors in the state of Oregon, USA. Results: More than 35% of supervisors reported no previous training on FMLA and the training pre-test revealed a lack of knowledge regarding benefit coverage and employer responsibilities. The CBT achieved: (1) a significant learning effect and large effect size of d = 2.0, (2) a positive reaction to the training and its design, and (3) evidence of increased knowledge and awareness regarding FMLA. Conclusion: CBT is an effective strategy to increase supervisors' knowledge and awareness to support policy implementation. The lack of supervisor training and knowledge of an important but complex employee benefit exposes a serious impediment to effective policy implementation and may lead to negative outcomes for the organization and the employee, supporting the Ryan-Kossek model. The results further demonstrate that long-time employees need supplementary training on complex workplace policies such as FMLA.

• Anxiety and mood
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• v.18 no.2
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• pp.39-47
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• 2022

Objective : This study investigated brain functional connectivity in male firefighters who showed subclinical post-traumatic stress disorder (PTSD) symptoms. Methods : We compared the data of 17 firefighters who were not diagnosed with PTSD and 18 healthy controls who had no trauma exposure. The following instruments were applied to assess psychiatric symptoms: Korean version of the Post-traumatic stress disorder Checklist for DSM-5 (PCL-5-K), Beck Depression Inventory-II (BDI-II), Beck Anxiety Inventory (BAI). For all subjects, functional magnetic resonance imaging was performed, and functional connectivity was compared between the two groups (family-wise error-corrected p<0.05). Additionally, correlations between psychiatric symptoms and functional connectivity were explored. Results : The following connectivity was higher than that of healthy controls: 1) the central opercular cortex-superior temporal gyrus, 2) planum polare-parahippocampal gyrus, 3) angular gyrus-amygdala, and 4) temporal fusiform cortex-parahippocampal gyrus. The functional connectivity of 1) the lateral occipital cortex-inferior temporal gyrus, 2) superior parietal lobule-caudate, and 3) middle temporal gyrus-thalamus were lower in firefighters. In firefighters, the connectivity of the planum polare-parahippocampal gyrus showed a negative correlation with the severity of arousal symptoms (rho=-0.586, p=0.013). The connectivity of the middle temporal gyrus-thalamus showed a positive correlation with the severity of intrusion (rho=0.552, p=0.022) and arousal symptoms (rho=0.619, p=0.008). The connectivity of the temporal fusiform cortex-parahippocampal gyrus was negatively correlated with intrusion (rho=-0.491, p=0.045) and arousal (rho=-0.579, p=0.015). Conclusion : Our results indicate that the brain functional connectivity is associated with occupational trauma exposure in firefighters without PTSD. Therefore, this study provides evidence that close monitoring and early intervention are important for firefighters with traumatic experience even at a subthreshold level.