OBJECTIVE: To elucidate the epidemiological characteristics and genetic variant profile of Short-chain acyl-CoA dehydrogenase deficiency (SCADD) among newborns from Hainan Province and evaluate its significance within the local neonatal disease screening panel. METHODS: A total of 84 184 newborns born in Hainan Province from February to December 2024 were included. Tandem mass spectrometry (MS/MS) was employed to detect butyrylcarnitine (C4) and propionylcarnitine (C3) levels in dried blood spots. Screening thresholds were set at C4 > 0.43 μ mol/L and C4/C3 ratio > 0.28. Suspected cases underwent confirmatory testing via urinary ethylmalonic acid analysis by gas chromatography-mass spectrometry and whole-exome sequencing for ACADS gene variants. This study was approved by the Medial Ethics Committee of the hospital (Ethics No.: HNWCMC-2024-55). RESULTS: Six SCADD cases (male-to-female ratio = 1:1) were diagnosed, with all carrying compound heterozygous variants at two loci, yielding a prevalence of 7.13 per 100,000 live births. Four known ACADS gene variants were identified, with both c.322G>A and c.625G>A detected at a frequency of 41.7%. Regular follow-up (as of January 2026) revealed that all diagnosed cases have remained asymptomatic with normal growth and development. CONCLUSION The prevalence of SCADD among newborns in Hainan Province is relatively high, with c.322G>A and c.625G>A as the hotspot variants in the region. Given the absence of clinical phenotypes in all screen-detected cases during long-term follow-up, it is recommended to remove this condition from the routine neonatal screening program for this region to reduce unnecessary anxiety and medical cost.
Humans ; Infant, Newborn ; Neonatal Screening/methods* ; Female ; Male ; Lipid Metabolism, Inborn Errors/epidemiology* ; Acyl-CoA Dehydrogenase/genetics* ; China/epidemiology* ; Follow-Up Studies

BACKGROUND: As research progresses, there is a growing body of evidence indicating that urinary metallothionein (MT) levels may be elevated in individuals exposed to cadmium (Cd). This study aimed to investigate the potential association between urinary MT levels and causes of mortality among residents of the Kakehashi River Basin who have been exposed to Cd. METHOD: The study involved a total of 1,398 men and 1,731 women were conducted between 1981 and 1982, with follow-up until November 2016. The study employed the Cox proportional-hazards model to examine the association between higher urinary MT concentrations and the risk of all-cause or cause-specific mortality within the population. Furthermore, the Fine and Gray competing risks regression model was used to evaluate the links between specific causes of death. RESULTS: The findings revealed that elevated urinary MT concentrations were linked to increased all-cause mortality and higher mortality rates from renal and urinary tract diseases across all participants. Specifically, in men, higher urinary MT levels were associated with elevated all-cause mortality, while in women, increased concentrations were linked to higher mortality from endocrine, nutritional, and metabolic diseases, as well as cardiovascular diseases. Even after adjusting for competing risks, higher urinary MT concentrations were associated with tumor-related mortality in men and continued to be associated with cardiovascular disease mortality in women. CONCLUSIONS In conclusion, the results suggest that women may face a greater risk of adverse health effects due to prolonged exposure to Cd. Urinary MT levels could potentially serve as a biomarker for mortality from these diseases in populations chronically exposed to Cd.
Humans ; Male ; Female ; Cadmium/urine* ; Japan/epidemiology* ; Metallothionein/metabolism* ; Middle Aged ; Cause of Death ; Adult ; Follow-Up Studies ; Aged ; Environmental Exposure/analysis* ; Proportional Hazards Models

BACKGROUND: A comprehensive understanding of the epidemiology of pediatric out-of-hospital cardiac arrest (OHCA) occurring under school supervision is lacking. We aimed to comprehensively describe the characteristics and outcomes of OHCA among students in elementary schools, junior high schools, high schools, and technical colleges in Japan. METHODS: OHCA data from 2008-2021 were obtained from the SPIRITS study, which provides a nationwide database of OHCAs occurring under school supervision across Japan. We included cases in which resuscitation was attempted by emergency medical service personnel or bystanders. The cases were classified into three groups based on their etiology: cardiac, non-cardiac, and traumatic origin. The primary outcome was one-month survival with favorable neurological outcomes, defined as a Glasgow-Pittsburgh cerebral performance category of 1 or 2. The demographic characteristics, event details, and outcomes were compared across the three groups by using χ² tests for categorical variables and one-way analyses of variance for continuous variables. RESULTS: During the 14-year study period, 602 OHCA cases were confirmed, with 430 (71.4%) classified as cardiac, 91 (15.1%) as non-cardiac, and 81 (13.5%) as traumatic origin. Non-cardiac and traumatic cases were less likely to be witnessed at the time of arrest (46.2% and 42.0%, respectively) than cardiac cases (82.6%; p < 0.001). Initiation of cardiopulmonary resuscitation by bystanders was less common in non-cardiac and traumatic cases (62.6% and 42.0%, respectively) than that in cardiac cases (82.8%; p < 0.001). The delivery of defibrillation using public-access automated external defibrillators was also significantly less frequent in non-cardiac (3.3%) and traumatic cases (6.2%) than that in cardiac cases (59.8%; p < 0.001). Ventricular fibrillation (VF) as the first documented rhythm was observed in 77.9% of cardiac cases but was much less common in non-cardiac (5.5%) and traumatic cases (8.6%; p < 0.001). One-month survival with favorable neurological outcomes was significantly lower in non-cardiac (6.6%) and traumatic cases (0%) than that in cardiac cases (50.2%; p < 0.001). CONCLUSIONS OHCAs of cardiac origin were more frequently associated with VF and had relatively good prognoses. In contrast, OHCAs of non-cardiac and traumatic origins consistently resulted in poor outcomes, highlighting the critical importance of prevention strategies to reduce the occurrence of these incidents.
Out-of-Hospital Cardiac Arrest/etiology* ; Humans ; Japan/epidemiology* ; Male ; Female ; Child ; Students/statistics & numerical data* ; Schools/statistics & numerical data* ; Adolescent ; Cardiopulmonary Resuscitation/statistics & numerical data* ; Emergency Medical Services/statistics & numerical data* ; Epidemiologic Studies

BACKGROUND: High levels of attention-deficit/hyperactivity disorder (ADHD) traits are associated with various outcomes, including depressive symptoms, functional impairment, and low self-esteem. Additionally, individuals with high levels of ADHD traits are reported to be more adversely affected by fear of coronavirus disease 2019 (COVID-19). The current study aimed to examine whether the association between ADHD traits and outcomes was partially mediated by fear of COVID-19 using mediation analysis. METHODS: A cross-sectional study was conducted in a sample of university students in medical-related faculties (n = 1,166). ADHD traits, fear of COVID-19, depressive symptoms, functional impairment, and self-esteem were assessed using the adult ADHD Self-Report Scale, Fear of COVID-19 Scale, K6 Scale, Sheehan Disability Scale, and Rosenberg Self-Esteem Scale, respectively. We used linear regression analysis and the Paramed command in Stata to analyze whether fear of COVID-19 mediated the association between ADHD traits and outcomes. RESULTS: ADHD traits were significantly associated with outcomes. Regarding the impact of fear of COVID-19, the results revealed a significant association between ADHD traits and fear of COVID-19, and between fear of COVID-19 and outcomes. The results of the mediation analyses showed that the association between ADHD traits and outcomes was partially mediated by the fear of COVID-19 (depressive symptoms: direct effect B = 1.029, 95% confidence interval [CI] 0.878, 1.181, indirect effect B = 0.021, 95% CI 0.002, 0.040; functional impairment: direct effect B = 0.786, 95% CI 0.593, 0.979, indirect effect B = 0.033, 95% CI 0.005, 0.060; self-esteem: direct effect B = -1.052, 95% CI -1.226, -0.878, indirect effect B = -0.024, 95% CI -0.046, -0.002). CONCLUSIONS Developing preventive measures against the adverse impacts of pandemics like COVID-19 will be particularly important for individuals with high levels of ADHD traits in future.
Humans ; COVID-19/psychology* ; Attention Deficit Disorder with Hyperactivity/epidemiology* ; Cross-Sectional Studies ; Self Concept ; Male ; Female ; Depression/epidemiology* ; Fear/psychology* ; Young Adult ; Universities ; Students/psychology* ; Adult ; SARS-CoV-2 ; Mediation Analysis ; Adolescent

BACKGROUND: Hypertension is a serious chronic disease that can significantly lead to various cardiovascular diseases, affecting vital organs such as the heart, brain, and kidneys. Our goal is to predict the risk of new onset hypertension using machine learning algorithms and identify the characteristics of patients with new onset hypertension. METHODS: We analyzed data from the 2011 China Health and Nutrition Survey cohort of individuals who were not hypertensive at baseline and had follow-up results available for prediction by 2015. We tested and evaluated the performance of four traditional machine learning algorithms commonly used in epidemiological studies: Logistic Regression, Support Vector Machine, XGBoost, LightGBM, and two deep learning algorithms: TabNet and AMFormer model. We modeled using 16 and 29 features, respectively. SHAP values were applied to select key features associated with new onset hypertension. RESULTS: A total of 4,982 participants were included in the analysis, of whom 1,017 developed hypertension during the 4-year follow-up. Among the 16-feature models, Logistic Regression had the highest AUC of 0.784(0.775∼0.806). In the 29-feature prediction models, AMFormer performed the best with an AUC of 0.802(0.795∼0.820), and also scored the highest in MCC (0.417, 95%CI: 0.400∼0.434) and F1 (0.503, 95%CI: 0.484∼0.505) metrics, demonstrating superior overall performance compared to the other models. Additionally, key features selected based on the AMFormer, such as age, province, waist circumference, urban or rural location, education level, employment status, weight, WHR, and BMI, played significant roles. CONCLUSION We used the AMFormer model for the first time in predicting new onset hypertension and achieved the best results among the six algorithms tested. Key features associated with new onset hypertension can be determined through this algorithm. The practice of machine learning algorithms can further enhance the predictive efficacy of diseases and identify risk factors for diseases.
Humans ; China/epidemiology* ; Hypertension/diagnosis* ; Machine Learning ; Male ; Female ; Middle Aged ; Adult ; Nutrition Surveys ; Algorithms ; Aged ; Risk Factors

BACKGROUND: The mechanisms distinguishing metabolically healthy from unhealthy phenotypes within the same BMI categories remain unclear. This study aimed to investigate the associations between regional fat distribution and metabolically unhealthy phenotypes in Chinese adults across different BMI categories. METHODS: This cross-sectional study involving 11833 Chinese adults aged 20 years and older. Covariance analysis, adjusted for age, compared the percentage of regional fat (trunk, leg, or arm fat divided by whole-body fat) between metabolically healthy and unhealthy participants. Trends in regional fat percentage with the number of metabolic abnormalities were assessed by the Jonckheere-Terpstra test. Odds ratios (ORs) and their 95% confidence intervals (CIs) were estimated by logistic regression models. All analyses were performed separately by sex. RESULTS: In non-obese individuals, metabolically unhealthy participants exhibited higher percent trunk fat and lower percent leg fat compared to healthy participants. Additionally, percent trunk fat increased and percent leg fat decreased with the number of metabolic abnormalities. After adjustment for demographic and lifestyle factors, as well as BMI, higher percent trunk fat was associated with increased odds of being metabolically unhealthy [highest vs. lowest quartile: ORs (95%CI) of 1.64 (1.35, 2.00) for men and 2.00 (1.63, 2.46) for women]. Conversely, compared with the lowest quartile, the ORs (95%CI) of metabolically unhealthy phenotype in the highest quartile for percent arm and leg fat were 0.64 (0.53, 0.78) and 0.60 (0.49, 0.74) for men, and 0.72 (0.56, 0.93) and 0.46 (0.36, 0.59) for women, respectively. Significant interactions between BMI and percentage of trunk and leg fat were observed in both sexes, with stronger associations found in individuals with normal weight and overweight. CONCLUSIONS Trunk fat is associated with a higher risk of metabolically unhealthy phenotype, while leg and arm fat are protective factors. Regional fat distribution assessments are crucial for identifying metabolically unhealthy phenotypes, particularly in non-obese individuals.
Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Young Adult ; Adipose Tissue ; Body Fat Distribution ; Body Mass Index ; China/epidemiology* ; Cross-Sectional Studies ; Health Surveys ; Phenotype

BACKGROUND: Japanese people sleep less compared to other countries around the world. Using a large nationally representative survey in 2019 and 2022, we investigated whether sleep duration and nonrestorative sleep (NRS) among Japanese people have improved or worsened due to the COVID-19 pandemic. METHODS: Data were drawn from the Comprehensive Survey of Living Conditions, a nationwide cross-sectional sample based on self-administered questionnaires. We analyzed 426,510 people in 2019 and 375,578 people in 2022 aged ≥20 living in the community. The generalized estimating equations of the multivariable Poisson regression models were used to estimate adjusted prevalence of NRS by survey year. Potential confounders included gender, age, marital status, family size, housing tenure, equivalent household expenditures, education, employment status, illness under treatment, lifestyle behaviors (i.e., smoking, drinking, dietary, and fitness habits), mental health, and sleep duration. RESULTS: Among the study participants, 35.7% slept less than 6 hours and 20.9% had NRS. Regarding sleep duration, the prevalence of sleep duration of less than 6 hours was significantly lower in 2022 than in 2019 for both men and women. By gender and age, the prevalence of short sleep duration (<6 hours) significantly decreased for both men and women under the age of 49, but increased significantly for men aged ≥50 and women aged ≥75. Regarding NRS, the prevalence of NRS was significantly lower in 2022 than in 2019 regardless of gender and age: Prevalence among men was 21.4% in 2019 and 18.8% in 2022, and prevalence among women was 23.7% in 2019 and 21.2% in 2022. After adjustment for potential confounders, the difference between the 2022 NRS prevalence and the 2019 NRS prevalence was minus 1.64 percent point (pp) (95% confidence interval minus 1.82 pp to minus 1.46 pp, P < 0.001), showing a significant decrease in the 2022 NRS prevalence. A significant improvement of NRS was independent of the prevalence of short sleep duration, age, gender, and employment status. CONCLUSIONS The prevalence of NRS among the general population in Japan was significantly reduced during the COVID-19 pandemic compared to before the COVID-19 pandemic. We need to monitor whether this decline continues or returns to pre-pandemic levels.
Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Young Adult ; COVID-19/epidemiology* ; Cross-Sectional Studies ; Japan/epidemiology* ; Pandemics ; Prevalence ; SARS-CoV-2 ; Sleep ; Surveys and Questionnaires

BACKGROUND: Ethylene oxide (EO) is a widely utilized industrial compound known to pose health hazards. Although its carcinogenic characteristics have been thoroughly investigated, recent findings indicate possible links to respiratory disease. The correlation between EO exposure and the likelihood of developing obstructive sleep apnea (OSA) in individuals remains unclear. The study aimed to explore the association between EO exposure and OSA within the broader US population. METHODS: From 2015 to 2020, 4355 participants were analyzed cross-sectionally in the National Health and Nutrition Examination Survey (NHANES). As the primary indicator of EO exposure, hemoglobin adducts of EO (HbEO) were used in this study. The relationship between EO exposure and OSA prevalence was assessed using weighted multivariable regression analysis and smoothing curve fitting. Using subgroup analysis and interaction tests, we investigated whether this association remained consistent across populations. RESULTS: According to the study, higher HbEO level was positively correlated with a higher prevalence of OSA. Compared to the first HbEO quartile (Q1), participants within the highest quartile (Q4) presented a higher OSA prevalence in the fully model (OR = 1.32, 95% CI: 1.08-1.62, P = 0.01, P for trend = 0.001). This correlation was particularly evident among females and individuals who are insufficiently physically active. CONCLUSIONS This research found a positive relationship between the extent of exposure to EO and OSA prevalence among a representative sample of Americans.
Humans ; Sleep Apnea, Obstructive/chemically induced* ; Female ; Male ; Middle Aged ; Adult ; Cross-Sectional Studies ; Prevalence ; Ethylene Oxide/toxicity* ; United States/epidemiology* ; Nutrition Surveys ; Aged ; Environmental Exposure/adverse effects* ; Young Adult

BACKGROUND: This cohort study aimed to identify the accumulation patterns of objectively measured ambulatory activity (AA) variables in the middle-aged and older Japanese women and examine the relationship of these derivative patterns with onset of metabolic syndrome (MetS). METHODS: A total of 794 women (mean age: 56.2 years) provided objectively assessed AA data using a uniaxial accelerometer. The number of steps, time accumulated in light-intensity AA (LIAA) and moderate-to-vigorous intensity AA (MVAA) and the ratio of MVAA to total AA (LIAA + MVAA) were calculated. Latent profile analysis was used to identify participant groups based on their distinct AA patterns. Logistic regression models were used to assess the association of groups with the onset of MetS after adjusting for age, sex, education, alcohol habit, smoking habit, energy intake, and the number of MetS components present at baseline. RESULTS: Four distinct groups were identified: Group A had low levels of the AA variable; group B accumulated a certain number or more steps primarily through MVAA; group C accumulated a certain number or more steps primarily through LIAA; and group D had high level of the AA variables. Over the course of the 5-year follow-up period, 61 participants (7.7%) developed MetS. The multivariate-adjusted odds ratio (95% confidence interval) for onset of MetS in groups B, C, and D relative to group A were 0.416 (0.166-1.218), 0.451 (0.223-0.914), and 0.933 (0.365-2.382), respectively. Group C had a significantly lower odds ratio of MetS onset than group A. CONCLUSION AA patterns accumulating a certain number or more steps, regardless of the intensity of AA, may help reduce the risk of MetS compared to inactive AA patterns.
Humans ; Metabolic Syndrome/etiology* ; Female ; Middle Aged ; Japan/epidemiology* ; Aged ; Exercise ; Cohort Studies ; Accelerometry ; Risk Factors ; East Asian People

BACKGROUND: Hemorrhagic stroke (HS) is associated with significant disability and mortality. However, the relationship between meteorological factors and hemorrhagic stroke, as well as the potential moderating role of these factors, remains unclear. METHODS: Daily data on HS, air pollution, and meteorological conditions were collected from January 2015 to December 2021 in Ganzhou to analyze the relationship between meteorological factors and HS admissions. This analysis employed a time-stratified case-crossover design in conjunction with a distributional lag nonlinear model. Additionally, a bivariate response surface modelling was utilized to further investigate the interaction between meteorological factors and particulate matter. The study also stratified the analyses by gender and age. To investigate the potential impact of extreme weather conditions on HS, this study defined the 97.5th percentile as representing extremely high weather conditions, while the 2.5th percentile was classified as extremely low. RESULTS: In single-day lags, the risk of admissions for HS was significantly associated with extremely low temperature (lag 1-2 and lag 13-14), extremely low humidity (lag 1 and lag 9-12), and extremely high precipitation (lag 2-7). Females exhibited greater susceptibility to extremely low temperature than males within the single-day lag pattern in the subcomponent layer, with a maximum relative risk (RR) that was 7% higher. In the cumulative lag analysis, the risk of HS admissions was significantly associated with extremely high temperature (lag 0-8∼lag 0-14), extremely low humidity (lag 0-2∼lag 0-14), and extremely high precipitation (lag 0-4∼lag 0-14). Within the cumulative lag day structure of the subcomponent layer, both extremely low and extremely high temperature had a more pronounced effect on females and aged ≥65 years. The risk of HS admissions was positively associated with extremely high barometric pressure in the female subgroups (lag 0-1 and lag 0-2). The highest number of HS admissions occurred when high PM_2.5 concentrations coexisted with low precipitation. CONCLUSIONS Meteorological factors were significantly associated with the risk of hospital admissions for HS. Individuals who were female and aged ≥65 years were found to be more susceptible to these meteorological influences. Additionally, an interaction was observed between airborne particulate matter and meteorological factors. These findings contributed new evidence to the association between meteorological factors and HS.
China/epidemiology* ; Humans ; Female ; Male ; Aged ; Middle Aged ; Cross-Over Studies ; Hospitalization/statistics & numerical data* ; Adult ; Hemorrhagic Stroke/etiology* ; Meteorological Concepts ; Weather ; Particulate Matter/analysis* ; Air Pollution/adverse effects* ; Environmental Exposure/adverse effects* ; Aged, 80 and over ; Young Adult