• Genomics & Informatics
• /
• v.19 no.4
• /
• pp.44.1-44.9
• /
• 2021

Autism is a complex neurodevelopmental disorder, the prevalence of which has increased drastically in India in recent years. Neuroligin is a type I transmembrane protein that plays a crucial role in synaptogenesis. Alterations in synaptic genes are most commonly implicated in autism and other cognitive disorders. The present study investigated the neuroligin 3 gene in the Indian autistic population by sequencing and in silico pathogenicity prediction of molecular changes. In total, 108 clinically described individuals with autism were included from the North Karnataka region of India, along with 150 age-, sex-, and ethnicity-matched healthy controls. Genomic DNA was extracted from peripheral blood, and exonic regions were sequenced. The functional and structural effects of variants of the neuroligin 3 protein were predicted. One coding sequence variant (a missense variant) and four non-coding variants (two 5'-untranslated region [UTR] variants and two 3'-UTR variants) were recorded. The novel missense variant was found in 25% of the autistic population. The C/C genotype of c.551T>C was significantly more common in autistic children than in controls (p = 0.001), and a significantly increased risk of autism (24.7-fold) was associated with this genotype (p = 0.001). The missense variant showed pathogenic effects and high evolutionary conservation over the functions of the neuroligin 3 protein. In the present study, we reported a novel missense variant, V184A, which causes abnormal neuroligin 3 and was found with high frequency in the Indian autistic population. Therefore, neuroligin is a candidate gene for future molecular investigations and functional analysis in the Indian autistic population.

• Nutrition Research and Practice
• /
• v.8 no.2
• /
• pp.192-197
• /
• 2014

BACKGROUND/OBJECTIVES: The body composition changes in aging increased the risk of metabolic disorder. Recent dietary studies have increasingly focused on the correlations between dietary patterns and chronic diseases to overcome the limitations of traditional single-nutrient studies because nutrients in food have complex relations that interact. SUBJECTS/METHODS: This study was conducted to classify a dietary pattern among Korean elderly using cluster analysis and to explore the relationships between dietary patterns and body composition changes in Korean elderly aged 65 years or older. The study subjects (n=1,435) were individuals who participated in the Korean National Health Examination and Nutrition Survey (KNHANES) in 2011. RESULTS: There were three dietary patterns derived by cluster analysis in this study: 'Traditional Korean' (37.49% of total population), 'Meat and Alcohol' (19.65%) and 'Westernized Korean' (42.86%). The (1) 'Traditional Korean' pattern was characterized by high consumptions of white rice and low protein, low fat, and low milk products, while (2) 'Westernized Korean' pattern ate a Korean-style diet base with various foods such as noodles, bread, eggs and milk, (3) 'Meat and Alcohol' pattern had high consumptions of meat and alcohol. In body composition changes, compared with the 'Traditional Korean' pattern, the 'Meat & alcohol' pattern was associated with a 50% increased risk of having elevated BMI ($kg/m^2$), 'Westernized Korean' pattern was associated with a 74% increased abnormality of ASM/Wt (kg) by logistics analysis. Most of the Korean adult population continues to follow ether a traditional Korean having beneficial effects for successful aging. However, the 'Traditional Korean' pattern showed low protein intake (0.7 g/kg), calcium intake, and vitamin D intake as well as low of appendicular skeletal muscle mass (ASM (kg)) among 3 groups. CONCLUSIONS: Considering the low ASM, consumption of protein, calcium and vitamin D should be increased for Korean elderly health body composition.

• Microbiology and Biotechnology Letters
• /
• v.46 no.2
• /
• pp.171-179
• /
• 2018

Human papillomavirus (HPV) plays a critical role in the development of cervical carcinoma. This study analyzed the efficiency of multiplex real-time PCR in detecting and identifying HPV genotypes in samples from women who visited a Korean hospital for checkups. Cervical swab specimens were obtained from women who attended a checkup at the Health Improvement Center of Hospital in Dankook University Cheonan, South Korea and were referred for an HPV genotyping test between January and September 2014. A total of 1703 cervical swab specimens were collected consecutively during this period. PCR results were compared with those of the traditional cytological assay for the same population. Among the 1,703 specimens, 19.91% were HPV positive, of which 14.50% indicated a single infection and 5.40% indicated multiple infections. However, cytology identified only 2.52% of positive cases, including 1.23% cases of atypical squamous cells of undetermined significance, 1% of low grade squamous intra-epithelial lesion, and 0.29% of high grade squamous intra-epithelial lesion. The rate of high-risk and low-risk HPV in the abnormal cytology group was 48 and 23, respectively, and 274 and 136 in the normal group, respectively. HPV types 56, 52, 43 were the most prevalent in that order. Our results confirm the efficiency of the HPV DNA assay for the detection of 28 different HPV genotypes with reasonable sensitivity. A screening strategy that comprises the HPV DNA assay and cytology would help overcome the low sensitivity of a cytological diagnosis.

• Safety and Health at Work
• /
• v.7 no.3
• /
• pp.208-212
• /
• 2016

Background: Outdoor workers are at risk of high ultraviolet radiation exposure, and may have difficulty using sun protection. The objectives were to determine the prevalence of sun protection behaviors in a sample of outdoor construction workers, and to assess which factors predict better sun protection practices. Methods: Participants were recruited via construction unions. Workers answered a questionnaire on demographics, skin cancer risk, sun protection behaviors, and job. Sun protection behavior scores (from questions on sunscreen use, sleeved shirt, hat, shade seeking, sunglasses) were calculated by converting Likert-scale answers to scores from 0 to 4, and taking the mean (separately for work and leisure). Determinants of sun protection behavior scores were examined for work and leisure using generalized linear models. Results: Seventy-seven workers had complete questionnaire data (participation 98%). Sun protection behaviors used most often were hats (79% often/always) and sleeved shirts (82% often/always); least prevalent were shade-seeking (8% often/always) and sunscreen (29% often/always). For both work and leisure scores, the strongest predictor was skin type, with fairer-skinned individuals having higher sun protection behavior scores. Workers had higher scores at work than on weekends. Workplaces that required hats and sleeved shirts for safety purposes had higher protection behavior scores. Conclusion: This high-participation rate cohort helps characterize sun protection behaviors among outdoor workers. Workers practiced better sun protection at work than on weekends, suggesting that workplace policies supportive of sun protection could be useful for skin cancer prevention in the construction industry.

• Asian Pacific Journal of Cancer Prevention
• /
• v.17 no.sup3
• /
• pp.197-200
• /
• 2016

On an international scale, the burden of cancer in absolute numbers continues to increase, mainly due to aging of population in many countries, the overall growth of the world population, changing lifestyle with increasing cancer-causing behavior, like cigarette smoking, changing dietary habits and sedentary life. Cancer is the second-leading cause of death and disability in the world, after only heart disease. Recently, increasing incidence and mortality of cancer have also become evident in the developing world. In Iraq and particularly in Basrah in the southern part of the country, the burden has definitely increased and deserves extensive research. The present paper is part of an extensive household survey carried out in Basrah in 2013. Among the objectives was to validate official cancer registration in the governorate. The cross-sectional survey had a retrospective component to inquire about the incidence of cancer and cancer-related deaths during the three years preceding the date of inquiry (2010-2012). A convenient sample of 6,999 households with 40,688 inhabitants using multistage cluster sampling was surveyed involving all urban and rural areas of Basrah. The official cancer registration activities in Basrah seemed to have attained a high level of registration coverage (70-80%) but the gap, represented by missed cases, is still high enough to criticize the system. Most of the missing cases were either not notified by treating facilities or they were diagnosed and treated outside Basrah. Using a set of parameters, the pattern of cancer was consistent based on data of the household survey and data of the cancer registry but a gap still existed in the coverage of incident cancer and mortality by cancer registration. Integrated serious steps are required to contain the risk of cancer and its burden on the patient through improving the registration process, improving early detection, diagnostic and management capabilities and encouraging scientific research to explore the hidden risk factors and possible causes of low registration coverage. Periodic household surveys seemed feasible and essential to support routine registration.

• Journal of Korean Medical Science
• /
• v.33 no.53
• /
• pp.342.1-342.6
• /
• 2018

We validated the diagnostic performance of a previously developed blood-based 7-protein biomarker panel, $AptoDetect^{TM}$-Lung (Aptamer Sciences Inc., Pohang, Korea) using modified aptamer-based proteomic technology for lung cancer detection. Non-small cell lung cancer (NSCLC), 200 patients and benign nodule controls, 200 participants were enrolled. In a high-risk population corresponding to ${\geq}55years$ of age and ${\geq}30pack-years$, the diagnostic performance was improved, showing 73.3% sensitivity and 90.5% specificity with an area under the curve of 0.88. $AptoDetect^{TM}$-Lung (Aptamer Sciences Inc.) offers the best validated performance to discriminate NSCLC from benign nodule controls in a high-risk population and could play a complementary role in lung cancer screening.

• Journal of Veterinary Science
• /
• v.22 no.1
• /
• pp.5.1-5.16
• /
• 2021

Background: Arctic-like (AL) lineages of rabies viruses (RABVs) remains endemic in some Arctic and Asia countries. However, their evolutionary dynamics are largely unappreciated. Objectives: We attempted to estimate the evolutionary history, geographic origin and spread of the Arctic-related RABVs. Methods: Full length or partial sequences of the N and G genes were used to infer the evolutionary aspects of AL RABVs by Bayesian evolutionary analysis. Results: The most recent common ancestor (tMRCA) of the current Arctic and AL RABVs emerged in the 1830s and evolved independently after diversification. Population demographic analysis indicated that the viruses experienced gradual growth followed by a sudden decrease in its population size from the mid-1980s to approximately 2000. Genetic flow patterns among the regions reveal a high geographic correlation in AL RABVs transmission. Discrete phylogeography suggests that the geographic origin of the AL RABVs was in east Russia in approximately the 1830s. The ancestral AL RABV then diversified and immigrated to the countries in Northeast Asia, while the viruses in South Asia were dispersed to the neighboring regions from India. The N and G genes of RABVs in both clades sustained high levels of purifying selection, and the positive selection sites were mainly found on the C-terminus of the G gene. Conclusions: The current AL RABVs circulating in South and North Asia evolved and dispersed independently.

• The Korean Society of Law and Medicine
• /
• v.21 no.2
• /
• pp.105-162
• /
• 2020

In the pandemic of infectious disease, restrictions of individual liberty have been justified in the name of public health and public interest. In March 2020, the National Assembly of the Republic of Korea passed the revised bill of the 「Infectious Disease Control and Prevention Act.」 The revised bill newly established the legal basis for forced testing and disclosure of the information of confirmed cases, and also raised the penalties for violation of self-isolation and treatment refusal. This paper examines whether and how these individual liberty limiting clauses be justified, and if so on what ethical and philosophical grounds. The authors propose the theories of the philosophy of law related to the justifiability of liberty-limiting measures by the state and conceptualized the dual-aspect of applying the liberty-limiting principle to the infected patient. In COVID-19 pandemic crisis, the infected person became the 'Patient as Victim and Vector (PVV)' that posits itself on the overlapping area of 'harm to self' and 'harm to others.' In order to apply the liberty-limiting principle proposed by Joel Feinberg to a pandemic with uncertainties, it is necessary to extend the harm principle from 'harm' to 'risk'. Under the crisis with many uncertainties like COVID-19 pandemic, this shift from 'harm' to 'risk' justifies the state's preemptive limitation on individual liberty based on the precautionary principle. This, at the same time, raises concerns of overcriminalization, i.e., too much limitation of individual liberty without sufficient grounds. In this article, we aim to propose principles regarding how to balance between the precautionary principle for preemptive restrictions of liberty and the concerns of overcriminalization. Public health crisis such as the COVID-19 pandemic requires a population approach where the 'population' rather than an 'individual' works as a unit of analysis. We propose the second expansion of the harm principle to be applied to 'population' in order to deal with the public interest and public health. The new concept 'risk to population,' derived from the two arguments stated above, should be introduced to explain the public health crisis like COVID-19 pandemic. We theorize 'the extended harm principle' to include the 'risk to population' as a third liberty-limiting principle following 'harm to others' and 'harm to self.' Lastly, we examine whether the restriction of liberty of the revised 「Infectious Disease Control and Prevention Act」 can be justified under the extended harm principle. First, we conclude that forced isolation of the infected patient could be justified in a pandemic situation by satisfying the 'risk to the population.' Secondly, the forced examination of COVID-19 does not violate the extended harm principle either, based on the high infectivity of asymptomatic infected people to others. Thirdly, however, the provision of forced treatment can not be justified, not only under the traditional harm principle but also under the extended harm principle. Therefore it is necessary to include additional clauses in the provision in order to justify the punishment of treatment refusal even in a pandemic.

• Asian Pacific Journal of Cancer Prevention
• /
• v.14 no.12
• /
• pp.7091-7094
• /
• 2013

DNA repair capacity is crucial in maintaining cellular functions and homeostasis. However, it can be altered based on DNA sequence variations in DNA repair genes and this may lead to the development of many diseases including malignancies. Identification of genetic polymorphisms responsible for reduced DNA repair capacity is necessary for better prevention. Homologous recombination (HR), a major double strand break repair pathway, plays a critical role in maintaining the genome stability. The present study was performed to determine the frequency of the HR gene XRCC3 Exon 7 (C18067T, rs861539) polymorphisms in Saudi Arabian population in comparison with epidemiological studies by "MEDLINE" search to equate with global populations. The variant allelic (T) frequency of XRCC3 (C>T) was found to be 39%. Our results suggest that frequency of XRCC3 (C>T) DNA repair gene exhibits distinctive patterns compared with the Saudi Arabian population and this might be attributed to ethnic variation. The present findings may help in high-risk screening of humans exposed to environmental carcinogens and cancer predisposition in different ethnic groups.

• Journal of the Korean Society of Safety
• /
• v.24 no.6
• /
• pp.132-135
• /
• 2009

The population over 65 years of age in Korea will be 10.3% of the entire population in 2008 indicating that Korea is already in an aging society. In addition, it is expected that Korea will be in an aged society in 2018 (population over 65 years of age : 14.3%) and that it will be in a post-aged society in 2026 (20.8%). Consequently, aged workers may also increase. It is well-known that the possibility to work longer and to live better is highly related to the work ability of individual. The objective of this study was to evaluate the work ability of each age group using the Work Ability Index(WAI) in the shipbuilding industry, and to assess the effects of social psychological stress, drinking characteristics, smoking characteristics, etc. on the WAI score. The results showed no significant difference on the effects of aging, drinking, and smoking characteristics. Interestingly, a statistical analysis on the effects of social psychological stress revealed a significant difference by stress levels. The difference of the average WAI score between the healthy group and the high risk group was about 10 points. Based on this result, it can be concluded that the stress level is an influential factor on WAI.