Evaluation of penalized and machine learning methods for asthma disease prediction in the Korean Genome and Epidemiology Study (KoGES).

BACKGROUND: Genome-wide association studies have successfully identified genetic variants associated with human disease. Various statistical approaches based on penalized and machine learning methods have recently been proposed for disease prediction. In this study, we evaluated the performance of several such methods for predicting asthma using the Korean Chip (KORV1.1) from the Korean Genome and Epidemiology Study (KoGES). RESULTS: First, single-nucleotide polymorphisms were selected via single-variant tests using logistic regression with the adjustment of several epidemiological factors. Next, we evaluated the following methods for disease prediction: ridge, least absolute shrinkage and selection operator, elastic net, smoothly clipped absolute deviation, support vector machine, random forest, boosting, bagging, naïve Bayes, and k-nearest neighbor. Finally, we compared their predictive performance based on the area under the curve of the receiver operating characteristic curves, precision, recall, F1-score, Cohen's Kappa, balanced accuracy, error rate, Matthews correlation coefficient, and area under the precision-recall curve. Additionally, three oversampling algorithms are used to deal with imbalance problems. CONCLUSIONS: Our results show that penalized methods exhibit better predictive performance for asthma than that achieved via machine learning methods. On the other hand, in the oversampling study, randomforest and boosting methods overall showed better prediction performance than penalized methods.

Comparisons between Caucasian-validated photo-numeric scales and Korean-validated photo-numeric scales for photo-ageing. Insights from the Singapore/Malaysia cross-sectional genetics epidemiology study (SMCGES) cohort.

BACKGROUND: Photo-ageing is a form of skin ageing which affects the entire face. A photo-aged skin has a diverse variety of wrinkles and dyspigmentation all over the face. Here, we discuss photo-ageing on the Chinese skin evaluated using a photo-numeric scale developed and validated on Caucasian skin (i.e., Caucasian scale) and evaluated using a photo-numeric scale developed and validated on Korean skin (i.e., Korean scale). The Korean scale can be subdivided into two scales that separately address the wrinkling and dyspigmentation constituents of photo-ageing. AIM: As there are currently no photo-ageing scales for Chinese skin, the main objective of this study is to adapt existing photo-ageing photo-numeric scales for use on ethnic Chinese skin. METHOD: Three trained assessors studied facial photo-ageing on 1,081 ethnic Chinese young adults from the Singapore/Malaysia Cross-sectional Genetics Epidemiology Study (SMCGES) cohort. RESULTS: All assessors are highly internally consistent (Weighted Kappa (κw) values≥0.952). We found that the Caucasian scale and Korean scale give nearly synonymous results for the wrinkling constituent of photo-ageing (R2 = 0.9386). The two scales are strongly concordant (Spearman's Rank Correlation (ρ) value: 0.62 ± 0.06, p = 1.31×10-84). A weak-to-moderate inter-scalar level of agreement (Cohen's Kappa (κ) values: 0.38 ± 0.05, p = 8.87×10-53) persists and is statistically significant after accounting for agreements due to chance. When tested on ethnic Chinese skin, both scales detect photo-ageing consistently (Area under curve [AUC] values: 0.76-0.84). Additionally, the Korean scale for the dyspigmentation constituent of photo-ageing is concordant with both the Caucasian scale (R2 = 0.7888) and the Korean scale for the wrinkling constituent of photo-ageing (R2 = 0.7734). CONCLUSION: Our results show that the Caucasian scale is suitable for capturing photo-ageing on Chinese skin, especially wrinkle variations. The Korean dyspigmentation scale supplements the Caucasian scale to capture dyspigmentation patterns on Chinese skin that may be absent on Caucasian skin. Currently, photo-ageing scales for Chinese skin are absent. When developed, these photo-ageing scales must be properly validated for their ability to capture photo-ageing of the entire face.

Machine Learning-Based Identification of Diagnostic Biomarkers for Korean Male Sarcopenia Through Integrative DNA Methylation and Methylation Risk Score: From the Korean Genomic Epidemiology Study (KoGES).

BACKGROUND: Sarcopenia, characterized by a progressive decline in muscle mass, strength, and function, is primarily attributable to aging. DNA methylation, influenced by both genetic predispositions and environmental exposures, plays a significant role in sarcopenia occurrence. This study employed machine learning (ML) methods to identify differentially methylated probes (DMPs) capable of diagnosing sarcopenia in middle-aged individuals. We also investigated the relationship between muscle strength, muscle mass, age, and sarcopenia risk as reflected in methylation profiles. METHODS: Data from 509 male participants in the urban cohort of the Korean Genome Epidemiology Study_Health Examinee study were categorized into quartile groups based on the sarcopenia criteria for appendicular skeletal muscle index (ASMI) and handgrip strength (HG). To identify diagnostic biomarkers for sarcopenia, we used recursive feature elimination with cross validation (RFECV), to pinpoint DMPs significantly associated with sarcopenia. An ensemble model, leveraging majority voting, was utilized for evaluation. Furthermore, a methylation risk score (MRS) was calculated, and its correlation with muscle strength, function, and age was assessed using likelihood ratio analysis and multinomial logistic regression. RESULTS: Participants were classified into two groups based on quartile thresholds: sarcopenia (n = 37) with ASMI and HG in the lowest quartile, and normal ranges (n = 48) in the highest. In total, 238 DMPs were identified and eight probes were selected using RFECV. These DMPs were used to build an ensemble model with robust diagnostic capabilities for sarcopenia, as evidenced by an area under the receiver operating characteristic curve of 0.94. Based on eight probes, the MRS was calculated and then validated by analyzing age, HG, and ASMI among the control group (n = 424). Age was positively correlated with high MRS (coefficient, 1.2494; odds ratio [OR], 3.4882), whereas ASMI and HG were negatively correlated with high MRS (ASMI coefficient, -0.4275; OR, 0.6521; HG coefficient, -0.3116; OR, 0.7323). CONCLUSION: Overall, this study identified key epigenetic markers of sarcopenia in Korean males and developed a ML model with high diagnostic accuracy for sarcopenia. The MRS also revealed significant correlations between these markers and age, HG, and ASMI. These findings suggest that both diagnostic models and the MRS can play an important role in managing sarcopenia in middle-aged populations.

Incidence and presentation of vestibular schwannoma: a 3-year cohort registry study.

BACKGROUND: Vestibular schwannoma (VS) is the most common benign tumour arising in the lateral skull base. Reported incidence rates of VS vary across geographical locations and over time. There is scarce updated evidence over the past decade on the epidemiology and mode of presentation of VS. OBJECTIVE: To describe the epidemiology and mode of presentation of VS in the East of England between 2013 and 2016. METHODS: A retrospective epidemiological analysis of data from a national VS registry and electronic patient records was conducted, including all newly diagnosed adult patients in a UK tertiary referral centre, between April 1st, 2013, and March 31st, 2016. RESULTS: There were 391 new cases identified resulting in an overall mean incidence of 2.2 VS cases per 100,000 person-year. The incidence rate for all patients in the <40 age group ranged between 0.3 and 0.7 per 100,000 person-year, increasing to a range of 5.7 to 6.1 per 100,000 person-year in the 60-69 age group. The top three combinations of symptoms on presentation per patient were hearing loss and tinnitus (97, 24.8%), hearing loss alone (79, 20.2%) and hearing loss, tinnitus, and balance symptoms (61, 15.6%). The median duration of symptoms was 12 months, with a wide range from 1.4 to 300 months. Age was negatively correlated with tumour size (r = -0.14 [-0.24 to -0.04], p=0.01) and positively correlated with symptom duration (r = 0.16 [0.03-0.29], p=0.02). CONCLUSIONS: The incidence of vestibular schwannoma has increased compared to previous studies in the UK and is similar to incidence rates reported in other countries during the past decade. It peaks in the seventh decade of life, mainly because of an increase in the diagnosis of small tumours with a long duration of audio-vestibular symptoms in older patients, compared to earlier studies.

Gene-Nutrient Interactions in Obesity: COBLL1 Genetic Variants Interact with Dietary Fat Intake to Modulate the Incidence of Obesity.

The COBLL1 gene is associated with leptin, a hormone important for appetite and weight maintenance. Dietary fat is a significant factor in obesity. This study aimed to determine the association between COBLL1 gene, dietary fat, and incidence of obesity. Data from the Korean Genome and Epidemiology Study were used, and 3055 Korean adults aged ≥ 40 years were included. Obesity was defined as a body mass index ≥ 25 kg/m2. Patients with obesity at baseline were excluded. The effects of the COBLL1 rs6717858 genotypes and dietary fat on incidence of obesity were evaluated using multivariable Cox proportional hazard models. During an average follow-up period of 9.2 years, 627 obesity cases were documented. In men, the hazard ratio (HR) for obesity was higher in CT, CC carriers (minor allele carriers) in the highest tertile of dietary fat intake than for men with TT carriers in the lowest tertile of dietary fat intake (Model 1: HR: 1.66, 95% confidence interval [CI]: 1.07-2.58; Model 2: HR: 1.63, 95% CI: 1.04-2.56). In women, the HR for obesity was higher in TT carriers in the highest tertile of dietary fat intake than for women with TT carriers in the lowest tertile of dietary fat intake (Model 1: HR: 1.49, 95% CI: 1.08-2.06; Model 2: HR: 1.53, 95% CI: 1.10-2.13). COBLL1 genetic variants and dietary fat intake had different sex-dependent effects in obesity. These results imply that a low-fat diet may protect against the effects of COBLL1 genetic variants on future obesity risk.

Gene-Smoking Interaction Analysis for the Identification of Novel Asthma-Associated Genetic Factors.

Asthma is a complex heterogeneous disease caused by gene-environment interactions. Although numerous genome-wide association studies have been conducted, these interactions have not been systemically investigated. We sought to identify genetic factors associated with the asthma phenotype in 66,857 subjects from the Health Examination Study, Cardiovascular Disease Association Study, and Korea Association Resource Study cohorts. We investigated asthma-associated gene-environment (smoking status) interactions at the level of single nucleotide polymorphisms, genes, and gene sets. We identified two potentially novel (SETDB1 and ZNF8) and five previously reported (DM4C, DOCK8, MMP20, MYL7, and ADCY9) genes associated with increased asthma risk. Numerous gene ontology processes, including regulation of T cell differentiation in the thymus (GO:0033081), were significantly enriched for asthma risk. Functional annotation analysis confirmed the causal relationship between five genes (two potentially novel and three previously reported genes) and asthma through genome-wide functional prediction scores (combined annotation-dependent depletion, deleterious annotation of genetic variants using neural networks, and RegulomeDB). Our findings elucidate the genetic architecture of asthma and improve the understanding of its biological mechanisms. However, further studies are necessary for developing preventive treatments based on environmental factors and understanding the immune system mechanisms that contribute to the etiology of asthma.

DNA Methylation Patterns According to Fatty Liver Index and Longitudinal Changes from the Korean Genome and Epidemiology Study (KoGES).

The role of differentially methylated regions (DMRs) in nonalcoholic fatty liver disease (NAFLD) is unclear. This study aimed to identify the role of DMR in NAFLD development and progression using the Korean Genome and Epidemiology Study (KoGES) cohort. We used laboratory evaluations and Illumina Methylation 450 k DNA methylation microarray data from KoGES. The correlation between fatty liver index (FLI) and genomic CpG sites was analyzed in 322 subjects. Longitudinal changes over 8 years were confirmed in 33 subjects. To identify CpG sites and genes related to FLI, we obtained enrichment terms for 6765 genes. DMRs were identified for both high (n = 128) and low (n = 194) groups on the basis of FLI 30 in 142 men and 180 women. To confirm longitudinal changes in 33 subjects, the ratio of follow-up and baseline investigation values was obtained. Correlations and group comparisons were performed for the 8 year change values. PITPNM3, RXFP3, and THRB were hypermethylated in the increased FLI groups, whereas SLC9A2 and FOXI3 were hypermethylated in the decreased FLI groups. DMRs describing NAFLD were determined, and functions related to inflammation were identified. Factors related to longitudinal changes are suggested, and blood circulation-related functions appear to be important in the management of NAFLD.

Influences of polycyclic aromatic hydrocarbon on the epigenome toxicity and its applicability in human health risk assessment.

The existence of polycyclic aromatic hydrocarbons (PAHs) in ambient air is an escalating concern worldwide because of their ability to cause cancer and induce permanent changes in the genetic material. Growing evidence implies that during early life-sensitive stages, the risk of progression of acute and chronic diseases depends on epigenetic changes initiated by the influence of environmental cues. Several reports deciphered the relationship between exposure to environmental chemicals and epigenetics, and have known toxicants that alter the epigenetic states. Amongst PAHs, benzo[a]pyrene (B[a]P) is accepted as a group 1 cancer-causing agent by the International Agency for the Research on Cancer (IARC). B[a]P is a well-studied pro-carcinogen that is metabolically activated by the aryl hydrocarbon receptor (AhR)/cytochrome P450 pathway. Cytochrome P450 plays a pivotal role in the stimulation step, which is essential for DNA adduct formation. Accruing evidence suggests that epigenetic alterations assume a fundamental part in PAH-promoted carcinogenesis. This interaction between PAHs and epigenetic factors results in an altered profile of these marks, globally and locus-specific. Some of the epigenetic changes due to exposure to PAHs lead to increased disease susceptibility and progression. It is well understood that exposure to environmental carcinogens, such as PAH triggers disease pathways through changes in the genome. Several evidence reported due to the epigenome-wide association studies, that early life adverse environmental events may trigger widespread and persistent variations in transcriptional profiling. Moreover, these variations respond to DNA damage and/or a consequence of epigenetic modifications that need further investigation. Growing evidence has associated PAHs with epigenetic variations involving alterations in DNA methylation, histone modification, and micro RNA (miRNA) regulation. Epigenetic alterations to PAH exposure were related to chronic diseases, such as pulmonary disease, cardiovascular disease, endocrine disruptor, nervous system disorder, and cancer. This hormetic response gives a novel perception concerning the toxicity of PAHs and the biological reaction that may be a distinct reliance on exposure. This review sheds light on understanding the latest evidence about how PAHs can alter epigenetic patterns and human health. In conclusion, as several epigenetic change mechanisms remain unclear yet, further analyses derived from PAHs exposure must be performed to find new targets and disease biomarkers. In spite of the current limitations, numerous evidence supports the perception that epigenetics grips substantial potential for advancing our knowledge about the molecular mechanisms of environmental toxicants, also for predicting health-associated risks due to environmental circumstances exposure and individual susceptibility.

Evaluation of iodine nutritional status during pregnancy by estimated 24-h urinary iodine excretion: population variation range and individual accuracy.

OBJECTIVE: To explore the accuracy of estimated 24-h urinary iodine excretion (24-h UIEest) in assessing iodine nutritional status. DESIGN: Fasting venous blood, 24-h and spot urine samples were collected during the day. The urinary iodine concentration (UIC) and urinary creatinine concentration (UCrC) were measured, and the urinary iodine-to-creatinine ratio (UI/Cr), 24-h UIEest, and 24-h urinary iodine excretion (24-h UIE) were calculated. At the population level, correlation and consistency between UIC, UI/Cr, 24-h UIEest and 24-h UIE were assessed using correlation analysis and Bland-Altman plots. At the individual level, receiver operating characteristic (ROC) curves were used to analyse the accuracy of the above indicators for evaluating insufficient and excessive iodine intake. The reference interval of 24-h UIEest was established based on percentile values. SETTING: Indicator can accurately evaluate individual iodine nutrition during pregnancy remains controversial. PARTICIPANTS: Pregnant women (n 788). RESULTS: Using 24-h UIE as standard, the correlation coefficients of 24-h UIEest from different periods of the day ranged from 0·409 to 0·531, and the relative average differences ranged from 4·4 % to 10·9 %. For diagnosis of insufficient iodine intake, the area under the ROC curve of 24-h UIEest was 0·754, sensitivity and specificity were 79·6 % and 65·4 %, respectively. For diagnosis of excessive iodine intake, the area of 24-h UIEest was 0·771, sensitivity and specificity were 66·7 % and 82·0 %, respectively. The reference interval of 24-h UIEest was 58·43-597·65 µg. CONCLUSIONS: Twenty-four-hour UIEest can better indicate iodine nutritional status at a relatively large sample size in a given population of pregnant women. It can be used for early screening at the individual level to obtain more lead time for pregnant women.

Serum leptin level and incidence of CKD: a longitudinal study of adult enrolled in the Korean genome and epidemiology study(KoGES).

BACKGROUND: Chronic kidney disease(CKD) is a major public health issue and is highly prevalent in the general population. Leptin is an adipose tissue-derived endocrine factor that has been associated with several metabolic factors involved in cardiovascular diseases. Several studies have investigated the association between leptin and renal diseases so far. But the results are conflicting between the studies. The objective of our study was to verify the direct association of serum leptin level with CKD development. METHODS: This prospective cohort study included 2646 adult aged 40-70 without CKD in the Korean Genome and Epidemiology Study(KoGES) across South Korea from November 2005 to February 2012. The primary outcome was the development of CKD as defined by National Kidney Foundation Kidney Disease Outcomes Quality Initiative (KDOQI). Multivariate stepwise logistic regression analysis was done to assess the independent associations, for with the incident of CKD as the dependent variable, in tertiles of leptin values. RESULTS: Among 1100 men and 1546 women with 2.8 mean years of follow-up, incidence of CKD was 18(1.63%) for men and 50(3.23%) for women. In the multivariate logistic regression models, individuals in the highest serum leptin tertile showed significant associations with risk of CKD after adjustment compared to the lowest tertiles in the population. The crude odds ratio for trend was 2.95(p = 0.004) for men. After adjusting for age, baseline eGFR variables showed correlation with statistical significance (OR for trend = 2.25, p = 0.037) for men. The same trends were also seen observed in all population and women also, but no statistical significance was found. CONCLUSIONS: Higher plasma leptin levels are associated with the incidence of CKD, independent of traditional factors such as age, baseline eGFR. Our results suggest that leptin may partly explain part of the reported association between obesity and kidney disease.

Demographic and Genome Wide Association Analyses According to Muscle Mass Using Data of the Korean Genome and Epidemiology Study.

BACKGROUND: Sarcopenia is commonly found in the elderly due to a decline in muscle mass. Many researchers have performed genome-wide association studies (GWAS) to find genetic risk factors of sarcopenia. Although many studies have discovered sarcopenia associated single nucleotide polymorphisms (SNPs), most of them are studies targeting Caucasians. The purpose of this study was to evaluate genetic correlation according to muscle mass in middle aged Koreans using data of the Korean Genome and Epidemiology Study (KOGES), a large population-based genomic cohort study. METHODS: Baseline participants were 10,030 subjects aged 40 to 69 years who were from Ansan or Anseong in Gyeonggi-do, South Korea. Among them, 9,351 subjects with laboratory data available were included in this study. To identify sarcopenia associated variants, those in the top 30% and bottom 30% of muscle mass index (MMI) were compared. A total of 7,452 people with an MMI of 30-70% were excluded. A total of 1,004 people were also excluded due to missing data. Finally, 895 people were selected for this study. The Korea Biobank Array generated 500,568 SNPs for this dataset. RESULTS: When subjects were divided into top 30% and bottom 30% of MMI, the top 30% had 169 men and 308 women and the bottom 30% had 220 men and 198 women. In men, age, body mass index (BMI), waist and hip were significantly (P < 0.005) different between top 30% and bottom 30% MMI groups. In women, age, BMI, waist, hip, and hypertension history were significantly different between the two MMI groups. There were 13 significant SNPs in men and 14 significant SNPs in women. Genes associated with variants in men based on the single-nucleotide polymorphism database (dbSNP) were LRP1B containing rs11679458 and RGS6 containing rs11848300. A gene associated with variants in women was Pi4K2A, which contained rs1189312 as a variant. In addition, rs11189312 was associated with expression quantitative trait loci (eQTL) of ZFYVE27 in skeletal muscles and other SNPs of ZFYVE27 (rs10882883, rs17108378, rs35077384) known to be associated with spastic paraplegia. The eQTL analysis revealed that rs11189312 was a variant associated with SNPs of ZFYVE27. CONCLUSIONS: In the demographic study, significant results were found in BMI, waist, hip, history of hyperlipidemia, and sedentary life status in male group, and significant results were found in BMI, waist, hip, and hypertension history in female group. Variant rs11189312 was found to be a novel variant affecting ZFYVE27 expressed in skeletal muscles, suggesting that rs11189312 might be related to sarcopenia as a novel discovery of this study. Further study is needed to determine the association between sarcopenia and ZFYVE27 known to be associated with spastic paraplegia.

The impact of COVID-19 on radiological findings in patients accessing the emergency department: a multicentric study.

Purpose: The aim of this multicentric study is to illustrate how the COVID-19 pandemic lockdown affected the workload and outcomes of radiological examinations in emergency radiology. Material and methods: The exams performed in the radiology departments of 4 Italian hospitals during 3 weeks of the Italian lockdown were retrospectively reviewed and compared to the exams conducted during the same period in 2019. Only exams from the emergency department (ED) were included. Two radiologists from each hospital defined the cases as positive or negative findings, based on independent blind readings of the imaging studies. In the case of differences in the evaluation, consensus was reached amongst them via discussion. Continuous measurements are presented as median and interquartile range, while categorical measurements are presented as frequency and percentage; p-values were calculated using the t-test, Mann-Whitney test, and the c2 test. Results: There were 745 patients (53% male; 62 years [44-78]) who underwent radiological examinations in 2020 vs. 2623 (52% male; 56 years [35-76]) in 2019 (p < 0.001). Furthermore, the total number of ED exams dropped from 3206 (2019) to 939 (2020), with a relative increase of CT examinations from 23% to 33% (p < 0.001). The percentage of patients with a positive finding was significantly higher in 2020 (355, 48%) compared to 2019 (684, 26%) (p < 0.001). Conclusions: Our findings show that despite the reduction of emergency radiological examinations, there was a rela-tive increase in the number of positive cases. These significant findings are crucial to ensure better organization of radiology departments and improve patient management during similar health emergencies in the future.

Analyses of the association between cervical cancer and osteoporosis/osteoporotic fracture: a cross-sectional study using KoGES HEXA data.

BACKGROUND: This study aimed to evaluate the association between cervical cancer and the occurrence of osteoporosis and osteoporotic fracture using data from the Korean Genome and Epidemiology Study (KoGES). METHODS: In this national cohort study using KoGES health examination (HEXA) data, we extracted data for patients with cervical cancer (n = 493) and control participants (n = 77,571); we then analyzed the occurrence of osteoporosis and osteoporotic fracture at baseline from 2004 to 2013 and during follow-up from 2012 to 2016. A logistic regression model was used to analyze the odds ratios (ORs) and the 95% confidence intervals (CIs). RESULTS: The ORs (95% CIs) for osteoporosis and osteoporotic fracture were 1.49 (95% CI 1.15-1.92, p = 0.03) and 1.06 (95% CI 0.82-1.38, p = 0.634), respectively, in the cervical cancer group. The ORs (95% CIs) for osteoporosis were 2.12 (95% CI 1.14-3.95, p = 0.018) in the ≤ 51-year-old group and 1.43 (95% CI 1.08-1.89, p = 0.011) in the ≥ 52-year-old group of cervical cancer patients. CONCLUSION: We concluded that Korean women with cervical cancer had a higher risk of osteoporosis than healthy women, but the same finding was not observed for osteoporotic fracture.

Association between fruit and vegetable consumption and risk of metabolic syndrome determined using the Korean Genome and Epidemiology Study (KoGES).

PURPOSE: This study examined the association between fruit and vegetable consumption and the risk of metabolic syndrome (MetS) and its components in middle-aged and older adults using data from the Korean Genome and Epidemiology Study. METHODS: A total of 5688 participants aged 40-69 years without MetS at baseline were recruited and followed for 8 years. Fruit and vegetable consumption was assessed using a semi-quantitative food-frequency questionnaire at baseline and after 4 years. A multivariate Cox proportional hazards model was used to examine the risk of incident MetS and its components according to fruit and vegetable consumption. RESULTS: A total of 2067 participants (1020 men and 1047 women) developed MetS during the 8-year follow-up period. Frequent fruit consumers (≥ 4 servings/day) had a lower risk of incident MetS than did rare consumers (< 1 serving/day) in both men and women (hazard ratio (HR) = 0.55, 95% CI 0.44-0.67, p < 0.0001 for men; HR = 0.57, 95% CI 0.47-0.70, p for trend < 0.0001 for women) after adjusting for confounders. Frequent fruit consumption was inversely associated with incidence of abdominal obesity, hypertriglyceridemia, and elevated blood pressure. Frequent vegetable consumption was inversely associated with a risk of hyperglycemia only in men (HR = 0.65, 95% CI 0.44-0.96, p for trend = 0.0275), but no association was observed with risk of incident MetS. CONCLUSIONS: High fruit consumption was associated with a reduced risk of incident MetS and its components, whereas high vegetable consumption was associated with a reduced risk of incident hyperglycemia, but not with MetS in middle-aged and older adults.

Sleep Quality and Nocturnal Symptoms in a Community-Based COPD Cohort.

Small studies have suggested that patients with chronic obstructive pulmonary disease (COPD) have poor sleep quality. Our aim was to examine the prevalence of subjective sleep-related complaints and predictors of poor sleep quality in a large community-based COPD cohort. We analyzed cross-sectional data on sleep questionnaire responses from the Canadian Cohort of Obstructive Lung Disease (CanCOLD) study, a population-based, prospective longitudinal cohort study across Canada. The cohort comprises a COPD group and two matched non-COPD (never-smokers and ever-smokers) groups. Sleep-related symptoms were assessed using questionnaires including Pittsburgh Sleep Quality Index (PSQI). A total score of PSQI > 5 is indicative of poor sleep quality. Health-related quality of life measures and the presence of mood disturbance were assessed using Short Form-36™ Health Survey (SF-36) multi-item questionnaires and Hospital Anxiety and Depression Scale (HADS), respectively. Predictors of poor sleep quality were analyzed using multivariable logistic regression analysis. Of the 1123 subjects, 263 were healthy controls, 323 at-risk controls, and 537 had COPD (297 had mild, 240 with moderate to severe disease). The mean PSQI score was not significantly different between groups. COPD patients with poor sleep quality had lower diffusion capacity, higher HADS anxiety and depression scores and lower SF-36 mental and physical component summary scores than COPD patients classified as good sleepers. The presence of restless legs and obstructive sleep apnea symptoms, waist circumference, predicted diffusion capacity and HADS anxiety and depression scores were identified as independent predictors of poor sleep quality.

Dietary Protein and Fat Intake Affects Diabetes Risk with CDKAL1 Genetic Variants in Korean Adults.

Cyclin-dependent kinase 5 regulatory subunit-associated protein 1-like 1 (CDKAL1) is one of the strongest diabetes loci identified to date; evidence suggests that it plays an important role in insulin secretion. Dietary factors that affect insulin demand might enhance the risk of diabetes associated with CDKAL1 variants. Our aim was to examine the interactions between dietary protein and fat intake and CDKAL1 genetic variants in relation to the risk of diabetes in Korean adults. Single nucleotide polymorphisms (SNPs) were selected with a genome-wide association study (GWAS) for diabetes after adjustment for age, gender, and examination site. Using data from the Health Examinees (HEXA) Study of the Korean Genome and Epidemiology Study (KoGES), 3988 middle-aged Korean adults between 40-76 years of age (2034 men and 1954 women) were included in the study. Finally, rs7756992 located within the CDKAL1 gene region was selected from GWAS (p-value < 5 × 10-8). Multivariable logistic regression models were used to evaluate the interactions between genotypes and dietary protein and fat intake in relation to diabetes risk after adjustment for age, gender, BMI, waist circumference, physical activity, smoking status, drinking habits, and examination site. Significant interactions between CDKAL1 rs7756992 and dietary protein and fat intake for the risk of diabetes were observed in men (p-value < 0.05). In women, significant interactions between dietary protein and fat intake and CDKAL1 variants (rs7756992) were associated with increased risk of diabetes (p-value < 0.05). Dietary protein and fat intake interacted differently with CDKAL1 variants in relation to the risk of diabetes in Korean adults of both genders. These findings indicate that CDKAL1 variants play a significant role in diabetes and that dietary protein and fat intake could affect these associations.

Effect of season on clinical outcomes of Thai systemic sclerosis: Analysis of the Thai national healthcare database.

Objectives: We aimed to determine rate of admission, mortality rate, and causes of death in systemic sclerosis (SSc) patients after stratifying by season.Method: A cross-sectional analysis was performed of patients over 15 in the national database with a primary diagnosis of SSc (ICD-10:M34) covered by the National Health Security Office hospitalized between 2014 and 2018. The seasons were stratified into hot, rainy, and Cool dry seasons.Results: Included were 2480 SSc patients with 3684 admissions: most (64.3%) were female. The respective mean age and median length of stay was 56.9 ± 12.3 years and 3 days (IQR 2-6). The admission rate was highest during the rainy season (1574 visits, 42.7%), followed by the cool dry season (1183 visits, 32.1%) then the hot season (927 visits, 25.2%). During the 13,180 person-days, 1660 SSc patients died resulting in a mortality rate of 12.1 per 100 person-days. The proportion of SSc patients who died in the Cool dry season was significantly higher than in the hot or rainy season (p = .04). Pulmonary involvement in SSc was the most common cause of death in the hot season, which is greater than in the other seasons (p = .004). By comparison, death due to cardiac involvement in SSc was common during the rainy season and cool dry seasons (p = .04).Conclusion: The admission rate among Thai SSc patients was greatest during the rainy season, while mortality was highest during the cool dry season. The most common causes of death were SSc-related irrespective of season, particularly cardiopulmonary involvement.

International globe and adnexal trauma epidemiology study (IGATES): a report from Central India on visual outcome in open globe injuries and correlation with ocular trauma score.

PURPOSE: To evaluate the factors influencing final visual outcome after surgical repair of open globe injuries (OGIs) and to correlate the Ocular Trauma Score (OTS) system. METHODS: Prospective cross-sectional study of patients with OGIs from International Globe and Adnexal Trauma Epidemiology Study (IGATES) database at a tertiary referral eye centre in Central India over 2 years. Pre-operative factors affecting final visual outcome and correlation with OTS were evaluated. RESULTS: 208 patients had ocular trauma, of which data from 42 eyes with OGIs were reviewed. The majority of the patients were men (32, 76.2%) below the age of 40 (31, 73.8%). Patients were followed up for at least 6 months. Initial visual acuity (VA) was ≥ 20/40; 2 (4.8%), 20/200 to 20/50; 2 (4.8%), 1/200 to 19/200; 7 (16.7%), LP to HM; 26 (61.9%) and NLP (5, 11.9%). Final VA was ≥ 20/40; 1 (2.4%), 20/50 to 20/200; 8 (19.1%), 1/200 to 19/200; 9 (21.4%), LP to HM; 17 (40.5%) and NLP; 7 (16.7%). Univariate analysis of pre-operative variables showed initial VA (p = 0.0004), presence of hyphaema (p = 0.0323), laceration involving cornea visual axis (p = 0.0192) and retinal detachment (p = 0.0299) were significant prognostic factors in final visual outcome. OTS in our study does not fully correlate with international OTS system. CONCLUSIONS: Initial VA, hyphaema, visual-axis involving cornea laceration and retinal detachment are significant prognostic factors in OGIs. OTS remains a largely effective tool in counselling trauma patients.

Impact of dietary protein intake and obesity on lean mass in middle-aged individuals after a 12-year follow-up: the Korean Genome and Epidemiology Study (KoGES).

The present study investigated the association between protein intake and lean mass according to obesity status over a 12-year period. Data on 4412 participants aged 40-69 years were obtained from the Korean Genome and Epidemiology Study. The usual dietary protein intake of these participants was assessed at baseline using a semi-quantitative FFQ. Body composition was measured using bioelectrical impedance analysis at baseline and after a 12-year follow-up. Linear mixed-effects models were used to examine the associations between lean mass after a 12-year follow-up and protein intake at baseline. After adjusting for covariates and lean mass at baseline, comparisons between the highest and lowest tertiles revealed that dietary protein intake was positively associated with lean mass in both men (ß = 0·79, P = 0·001) and women (ß = 0·28, P = 0·082) after the 12-year period; however, those differences were attenuated after additional adjustment for fat mass at baseline and were stronger in the normal-weight group (men, ß = 0·85, P = 0·002; women, ß = 0·97, P < 0·001) but were not detected in the obese group. In the obese group, age (men, ß = 4·08, P < 0·001; women, ß = 2·61, P < 0·001) and regular physical activity (men, ß = 0·88, P = 0·054; women, ß = 0·76, P < 0·001) were significantly associated with lean mass after 12 years of follow-up. The results of the present study showed that protein intake may contribute to the prevention of ageing-related lean mass loss; however, the impact of this intake may vary depending on obesity status. Therefore, the maintenance of a healthy body weight during ageing through enhanced protein intake is likely to confer health benefits.

Association between digestive symptoms and sleep disturbance: a cross-sectional community-based study.

BACKGROUND: This study was conducted to analyze the association between digestive symptoms and sleep disturbance, and to determine if any digestive symptoms are related to sleep disturbance. METHODS: This was a cross-sectional study of 5792 subjects surveyed in a community-based cohort. Subjects provided information regarding the quality of sleep as assessed by the Pittsburgh Sleep Quality Index (PSQI), as well as digestive symptoms as assessed by the Gastrointestinal Symptom Rating Scale (GSRS). Logistic regressions were used to examine factors associated with sleep quality. RESULTS: The mean PSQI global score of the no sleep disturbances group (n = 4948) was 3.92 (SD = 2.14), while that of the sleep disturbance group (n = 844) was 11.18 (SD = 2.17). The association between digestive symptoms and sleep disturbance was evaluated by logistic regression after adjusting for cofounding factors. The results revealed that sleep disturbances were associated with digestive symptoms (aOR = 1.29, 95% CI = 1.22-1.36), especially abdominal pains (aOR = 1.63, 95% CI = 1.19-2.25), acid regurgitation (aOR = 1.48, 95% CI = 1.17-1.86), abdominal distension (aOR = 1.80, 95% CI = 1.42-2.28), and eructation (aOR = 1.59, 95% CI = 1.24-2.03). CONCLUSIONS: Digestive symptoms and sleep disturbances seem to be associated. These results will help medical professionals to effectively diagnose and manage patients with sleep disturbance. Furthermore, subsequent studies using comprehensive longitudinal data should be conducted to confirm the results of the present study.