1.Implication of newborn Short-chain Acyl-CoA dehydrogenase deficiency screening and follow-up in Hainan Province for newborn screening strategies.
Peizhen ZHAO ; Zhendong ZHAO ; Haizhu XU
Chinese Journal of Medical Genetics 2026;43(4):248-252
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
2.Association of Body Mass Index with All-Cause Mortality and Cause-Specific Mortality in Rural China: 10-Year Follow-up of a Population-Based Multicenter Prospective Study.
Juan Juan HUANG ; Yuan Zhi DI ; Ling Yu SHEN ; Jian Guo LIANG ; Jiang DU ; Xue Fang CAO ; Wei Tao DUAN ; Ai Wei HE ; Jun LIANG ; Li Mei ZHU ; Zi Sen LIU ; Fang LIU ; Shu Min YANG ; Zu Hui XU ; Cheng CHEN ; Bin ZHANG ; Jiao Xia YAN ; Yan Chun LIANG ; Rong LIU ; Tao ZHU ; Hong Zhi LI ; Fei SHEN ; Bo Xuan FENG ; Yi Jun HE ; Zi Han LI ; Ya Qi ZHAO ; Tong Lei GUO ; Li Qiong BAI ; Wei LU ; Qi JIN ; Lei GAO ; He Nan XIN
Biomedical and Environmental Sciences 2025;38(10):1179-1193
OBJECTIVE:
This study aimed to explore the association between body mass index (BMI) and mortality based on the 10-year population-based multicenter prospective study.
METHODS:
A general population-based multicenter prospective study was conducted at four sites in rural China between 2013 and 2023. Multivariate Cox proportional hazards models and restricted cubic spline analyses were used to assess the association between BMI and mortality. Stratified analyses were performed based on the individual characteristics of the participants.
RESULTS:
Overall, 19,107 participants with a sum of 163,095 person-years were included and 1,910 participants died. The underweight (< 18.5 kg/m 2) presented an increase in all-cause mortality (adjusted hazards ratio [ aHR] = 2.00, 95% confidence interval [ CI]: 1.66-2.41), while overweight (≥ 24.0 to < 28.0 kg/m 2) and obesity (≥ 28.0 kg/m 2) presented a decrease with an aHR of 0.61 (95% CI: 0.52-0.73) and 0.51 (95% CI: 0.37-0.70), respectively. Overweight ( aHR = 0.76, 95% CI: 0.67-0.86) and mild obesity ( aHR = 0.72, 95% CI: 0.59-0.87) had a positive impact on mortality in people older than 60 years. All-cause mortality decreased rapidly until reaching a BMI of 25.7 kg/m 2 ( aHR = 0.95, 95% CI: 0.92-0.98) and increased slightly above that value, indicating a U-shaped association. The beneficial impact of being overweight on mortality was robust in most subgroups and sensitivity analyses.
CONCLUSION
This study provides additional evidence that overweight and mild obesity may be inversely related to the risk of death in individuals older than 60 years. Therefore, it is essential to consider age differences when formulating health and weight management strategies.
Humans
;
Body Mass Index
;
China/epidemiology*
;
Male
;
Female
;
Middle Aged
;
Prospective Studies
;
Rural Population/statistics & numerical data*
;
Aged
;
Follow-Up Studies
;
Adult
;
Mortality
;
Cause of Death
;
Obesity/mortality*
;
Overweight/mortality*
3.Associations of Genetic Risk and Physical Activity with Incident Chronic Obstructive Pulmonary Disease: A Large Prospective Cohort Study.
Jin YANG ; Xiao Lin WANG ; Wen Fang ZHONG ; Jian GAO ; Huan CHEN ; Pei Liang CHEN ; Qing Mei HUANG ; Yi Xin ZHANG ; Fang Fei YOU ; Chuan LI ; Wei Qi SONG ; Dong SHEN ; Jiao Jiao REN ; Dan LIU ; Zhi Hao LI ; Chen MAO
Biomedical and Environmental Sciences 2025;38(10):1194-1204
OBJECTIVE:
To investigate the relationship between physical activity and genetic risk and their combined effects on the risk of developing chronic obstructive pulmonary disease.
METHODS:
This prospective cohort study included 318,085 biobank participants from the UK. Physical activity was assessed using the short form of the International Physical Activity Questionnaire. The participants were stratified into low-, intermediate-, and high-genetic-risk groups based on their polygenic risk scores. Multivariate Cox regression models and multiplicative interaction analyses were used.
RESULTS:
During a median follow-up period of 13 years, 9,209 participants were diagnosed with chronic obstructive pulmonary disease. For low genetic risk, compared to low physical activity, the hazard ratios ( HRs) for moderate and high physical activity were 0.853 (95% confidence interval [ CI]: 0.748-0.972) and 0.831 (95% CI: 0.727-0.950), respectively. For intermediate genetic risk, the HRs were 0.829 (95% CI: 0.758-0.905) and 0.835 (95% CI: 0.764-0.914), respectively. For participants with high genetic risk, the HRs were 0.809 (95% CI: 0.746-0.877) and 0.818 (95% CI: 0.754-0.888), respectively. A significant interaction was observed between genetic risk and physical activity.
CONCLUSION
Moderate or high levels of physical activity were associated with a lower risk of developing chronic obstructive pulmonary disease across all genetic risk groups, highlighting the need to tailor activity interventions for genetically susceptible individuals.
Humans
;
Pulmonary Disease, Chronic Obstructive/epidemiology*
;
Exercise
;
Male
;
Female
;
Middle Aged
;
Prospective Studies
;
Aged
;
Genetic Predisposition to Disease
;
Risk Factors
;
United Kingdom/epidemiology*
;
Incidence
;
Adult
4.A Multi-site Analysis for the Economic Burden of Mortality Attributable to Cold Spells of Different Intensities in China, 2014-2019.
Cheng ZHAO ; Yu WANG ; Rui ZHANG ; Shi Lu TONG ; Jiang HE ; Yong Hong LI ; Xiao Yuan YAO
Biomedical and Environmental Sciences 2025;38(10):1205-1216
OBJECTIVE:
The role of cold spells of different intensities in the economic burden of death is crucial for health adaptation to climate change, especially in a multi-site setting. The objective of the study was to explore the economic burden of mortality attributable to cold spells.
METHODS:
We performed a two-stage time-series analysis using the Value of Statistical Life (VSL) approach to evaluate the economic impact of mortality related to cold spells of varying lengths and intensities. This analysis employed a case-crossover design, with a distributed lag nonlinear model (DLNM) used for analysis. Analysis was stratified according to age, sex, and region of origin. The results of the assessment show that cold spells have an enormous impact on the economic losses of mortality due to climate change and aging.
RESULTS:
Totally, 8.3% (95% CI: 0.0%, 16.0%) to 13.8% (95% CI: 1.0%, 24.8%) of VSL were ascribed to cold spells, accounting for economic losses of 4.71 (95% CI: 0.34, 8.47) to 11.45 (95% CI: 0.00, 21.00) billion CNY, in the cold season. The population aged over 65 y and females are particularly vulnerable. Economic impacts in warmer regions, such as the southern and subtropical zones, are more extensive than those in the northern and temperate zones.
CONCLUSION
Customizing cold spell prevention measures for vulnerable populations or regions is vital to alleviating the socioeconomic burden.
China/epidemiology*
;
Humans
;
Female
;
Male
;
Cold Temperature/adverse effects*
;
Aged
;
Middle Aged
;
Adult
;
Mortality
;
Infant
;
Child
;
Adolescent
;
Child, Preschool
;
Young Adult
;
Climate Change
;
Aged, 80 and over
;
Cost of Illness
;
Infant, Newborn
5.Diverse Subtypes of Cardiovascular Disease Risk Evaluated by Novel PREVENT Associated with Different Polycyclic Aromatic Hydrocarbon Metabolites.
Ye XIN ; Yu Cheng SUN ; Lin CHEN ; Feng Tao CUI ; Ying Ge DUAN ; Han Yun WANG ; Li CHEN ; Tian CHEN ; Pi Ye NIU ; Jun Xiang MA
Biomedical and Environmental Sciences 2025;38(10):1217-1229
OBJECTIVE:
To investigate the association of various polycyclic aromatic hydrocarbon (PAH) metabolites with diverse subtypes of cardiovascular disease (CVD) risk.
METHODS:
A novel predicting risk of cardiovascular disease EVENTs PREVENT equation was used to estimate the 10-year diverse subtypes of CVD risk, and their associations with PAH metabolites were analyzed using multiple logistic regression models, the weighted quantile sum (WQS) model, the quantile g-computation (qgcomp) model, and a stratified analysis of subgroups.
RESULTS:
For this study, six thousand seven hundred and forty-five participants were selected, and significant positive associations were observed between PAHs, naphthalene (NAP), and fluorene (FLU), and the risks of total CVD, atherosclerotic cardiovascular disease (ASCVD), and heart failure (HF). NAP and FLU were the primary contributors to the effects of PAH mixtures, and their associations with total CVD, ASCVD, and HF risk were significant in younger participants (30 ≤ age < 50 years); however, the associations of phenanthrene (PHEN) with ASCVD, HF, coronary heart disease (CHD), and stroke were dominant in aging participants (age ≥ 50 years). Notably, pyrene (PYR) was negatively associated with the risk of ASCVD, HF, CHD, and stroke. Similarly, negative associations of PYR with the four CVD subtypes were noticeable in aging participants.
CONCLUSION
Different PAHs metabolites had different impacts on each CVD subtype among different age groups. Notably, the protective effects of PYR on ASCVD, HF, CHD, and stroke were noticeable in aging individuals.
Humans
;
Cardiovascular Diseases/chemically induced*
;
Middle Aged
;
Polycyclic Aromatic Hydrocarbons/metabolism*
;
Male
;
Female
;
Adult
;
Aged
;
Risk Factors
;
China/epidemiology*
6.Progress on Wastewater-based Epidemiology in China: Implementation Challenges and Opportunities in Public Health.
Qiu da ZHENG ; Xia Lu LIN ; Ying Sheng HE ; Zhe WANG ; Peng DU ; Xi Qing LI ; Yuan REN ; De Gao WANG ; Lu Hong WEN ; Ze Yang ZHAO ; Jianfa GAO ; Phong K THAI
Biomedical and Environmental Sciences 2025;38(11):1354-1358
Wastewater-based epidemiology has emerged as a transformative surveillance tool for estimating substance consumption and monitoring disease prevalence, particularly during the COVID-19 pandemic. It enables the population-level monitoring of illicit drug use, pathogen prevalence, and environmental pollutant exposure. In this perspective, we summarize the key challenges specific to the Chinese context: (1) Sampling inconsistencies, necessitating standardized 24-hour composite protocols with high-frequency autosamplers (≤ 15 min/event) to improve the representativeness of samples; (2) Biomarker validation, requiring rigorous assessment of excretion profiles and in-sewer stability; (3) Analytical method disparities, demanding inter-laboratory proficiency testing and the development of automated pretreatment instruments; (4) Catchment population dynamics, reducing estimation uncertainties through mobile phone data, flow-based models, or hydrochemical parameters; and (5) Ethical and data management concerns, including privacy risks for small communities, mitigated through data de-identification and tiered reporting platforms. To address these challenges, we propose an integrated framework that features adaptive sampling networks, multi-scale wastewater sample banks, biomarker databases with multidimensional metadata, and intelligent data dashboards. In summary, wastewater-based epidemiology offers unparalleled scalability for equitable health surveillance and can improve the health of the entire population by providing timely and objective information to guide the development of targeted policies.
China/epidemiology*
;
Humans
;
Wastewater/analysis*
;
COVID-19/epidemiology*
;
Public Health
;
Wastewater-Based Epidemiological Monitoring
;
SARS-CoV-2
7.Overweight Modified the Associations between Long-Term Exposure to Ambient Fine Particulate Matter and Its Constituent and the Risk of Type 2 Diabetes in Rural China.
Dong Hui YANG ; Yun CHEN ; Xia MENG ; Xiao Lian DONG ; Hai Dong KAN ; Chao Wei FU
Biomedical and Environmental Sciences 2025;38(11):1359-1368
OBJECTIVE:
To investigate the association between long-term exposure to ambient fine particulate matter (PM 2.5) and its constituents and the risk of incident type 2 diabetes mellitus (T2DM), and to examine the modification roles of overweight status.
METHODS:
This prospective study included 27,507 adults living in rural China. The annual mean residential exposure to PM 2.5 and its constituents was estimated using a satellite-based statistical model. Cox models were used to estimate the risk of T2DM associated with PM 2.5 and its constituents. Stratified analysis quantified the role of overweight status in the association between PM 2.5 constituents and T2DM.
RESULTS:
Over a median follow-up of 9.4 years, 3,001 new T2DM cases were identified. The hazard ratio ( HR) for a 10 μg/m 3 increase in ambient PM 2.5 was 1.30 (95% confidence interval [ CI]: 1.17, 1.45). Among the constituents, the strongest association was observed with black carbon. Being overweight significantly modified the association between certain constituents and the risk of T2DM. Participants who were overweight and exposed to the highest quartile of PM 2.5 constituents had the highest risk of T2DM ( HR: 2.46, 95% CI: 2.04, 2.97).
CONCLUSIONS
Our findings indicate that PM 2.5 was associated with an increased risk of T2DM, with black carbon potentially being the primary contributor. Being overweight appeared to enhance the association between PM 2.5 and T2DM. This suggests that controlling both PM 2.5 exposure and overweight status may reduce the burden of T2DM.
Humans
;
Diabetes Mellitus, Type 2/chemically induced*
;
China/epidemiology*
;
Particulate Matter/analysis*
;
Overweight/epidemiology*
;
Female
;
Male
;
Middle Aged
;
Rural Population
;
Air Pollutants/analysis*
;
Adult
;
Prospective Studies
;
Environmental Exposure/adverse effects*
;
Aged
;
Risk Factors
8.Risk of Hospitalization for Genitourinary System Diseases Following Exposure to Cold Spells.
Qing Hua SUN ; Chen CHEN ; Jie BAN ; Han Shuo ZHANG ; Jing Yi SUN ; Hang DU ; Tian Tian LI
Biomedical and Environmental Sciences 2025;38(11):1369-1377
OBJECTIVE:
To assess relationships between cold spells and genitourinary hospitalization risk.
METHODS:
Hospitalization records for genitourinary system diseases (GUDs) from 16 districts in Beijing (2013-2018) were analyzed. Cold spells were defined based on varying intensity thresholds. A two-stage analytical method was employed: first, generalized linear models assessed district-specific associations between cold spells and hospitalizations; second, random-effects meta-analysis aggregated the district-level results. Subgroup analyses were performed by admission type (emergency vs. outpatient), age, and sex.
RESULTS:
A total of 271,579 GUD-related hospitalizations were recorded. Cold spells (p1day2,daily mean temperature below the 1 st percentiles of the daily mean temperature distribution from January 1, 2013, to December 31, 2018, lasting for two or more consecutive days) were linked to a significant rise in hospitalization risks: 1.43 (95% CI: 1.32-1.56) for all GUDs, 1.35 (95% CI: 1.23-1.49) for urinary system diseases, and 1.46 (95% CI: 1.28-1.67) for renal failure, when compared to non-cold spell days. Emergency admissions showed higher risk increases than outpatient admissions.
CONCLUSION
Extreme cold spells significantly elevate hospitalization risks for GUDs. This highlights the urgent need for targeted public health interventions to mitigate cold-related health impacts, especially for vulnerable populations.
Humans
;
Hospitalization/statistics & numerical data*
;
Male
;
Female
;
Cold Temperature/adverse effects*
;
Infant
;
Child, Preschool
;
Middle Aged
;
Adult
;
Child
;
Aged
;
Adolescent
;
Young Adult
;
Beijing/epidemiology*
;
Female Urogenital Diseases/etiology*
;
Male Urogenital Diseases/etiology*
;
Infant, Newborn
;
Risk Factors
9.Short-Term Lag Effects of Climate-Pollution Interactions on Cardiopulmonary Hospitalizations: A Multi-City Predictive Study Using the AE+LSTM Hybrid Model in Japan.
Yi Jia CHEN ; Fan ZHAO ; Qing Yang WU ; Yukitaka OHASHI ; Tomohiko IHARA
Biomedical and Environmental Sciences 2025;38(11):1378-1387
OBJECTIVE:
To assess the short-term lag effects of climate and air pollution on hospital admissions for cardiovascular and respiratory diseases, and to develop deep learning-based models for daily hospital admission prediction.
METHODS:
A multi-city study was conducted in Tokyo's 23 wards, Osaka City, and Nagoya City. Random forest models were employed to assess the synergistic short-term lag effects (lag0, lag3, and lag7) of climate and air pollutants on hospitalization for five cardiovascular diseases (CVDs) and two respiratory diseases (RDs). Furthermore, we developed hybrid deep learning models that integrated an autoencoder (AE) with a Long Short-Term Memory network (AE+LSTM) to predict daily hospital admissions.
RESULTS:
On the day of exposure (lag0), air pollutants, particularly nitrogen oxides (NO x), exhibited the strongest influence on hospital admissions for CVD and RD, with pronounced effects observed for hypertension (I10-I15), ischemic heart disease (I20), arterial and capillary diseases (I70-I79), and lower respiratory infections (J20-J22 and J40-J47). At longer lags (lag3 and lag7), temperature and precipitation were more influential predictors. The AE+LSTM model outperformed the standard LSTM, improving the prediction accuracy by 32.4% for RD in Osaka and 20.94% for CVD in Nagoya.
CONCLUSION
Our findings reveal the dynamic, time-varying health risks associated with environmental exposure and demonstrate the utility of deep learnings in predicting short-term hospital admissions. This framework can inform early warning systems, enhance healthcare resource allocation, and support climate-adaptive public health strategies.
Humans
;
Hospitalization/statistics & numerical data*
;
Cardiovascular Diseases/epidemiology*
;
Japan/epidemiology*
;
Air Pollutants/analysis*
;
Air Pollution/adverse effects*
;
Cities/epidemiology*
;
Climate
;
Respiratory Tract Diseases/epidemiology*
;
Deep Learning
;
Male
10.Sandstorm-driven Particulate Matter Exposure and Elevated COPD Hospitalization Risk in Arid Regions of China: A Spatiotemporal Epidemiological Analysis.
Hao ZHAO ; Ce LIU ; Er Kai ZHOU ; Bao Feng ZHOU ; Sheng LI ; Li HE ; Zhao Ru YANG ; Jia Bei JIAN ; Huan CHEN ; Huan Huan WEI ; Rong Rong CAO ; Bin LUO
Biomedical and Environmental Sciences 2025;38(11):1404-1416
OBJECTIVE:
Chronic obstructive pulmonary disease (COPD) is a major health concern in northwest China; however, the impact of particulate matter (PM) exposure during sand-dust storms (SDS) remains poorly understood. Therefore, this study aimed to investigate the association between PM exposure on SDS days and COPD hospitalization risk in arid regions.
METHODS:
Data on daily COPD hospitalizations were collected from 323 hospitals from 2018 to 2022, along with the corresponding air pollutant and meteorological data for each city in Gansu Province. Employing a space-time-stratified case-crossover design and conditional Poisson regression, we analyzed 265,379 COPD hospitalizations.
RESULTS:
PM exposure during SDS days significantly increased COPD hospitalization risk [relative risk ( RR) for PM 2.5, lag 3:1.028, 95% confidence interval ( CI): 1.021-1.034], particularly among men and the elderly, and during the cold season. The burden of PM exposure on COPD hospitalization was substantially high in Northwest China, especially in the arid and semi-arid regions.
CONCLUSION
Our findings revealed a positive correlation between PM exposure during SDS episodes and elevated hospitalization rates for COPD in arid and semi-arid zones in China. This highlights the urgency of developing region-specific public health strategies to address adverse respiratory outcomes associated with SDS-related air quality deterioration.
Humans
;
China/epidemiology*
;
Pulmonary Disease, Chronic Obstructive/chemically induced*
;
Particulate Matter/analysis*
;
Hospitalization/statistics & numerical data*
;
Male
;
Female
;
Middle Aged
;
Aged
;
Air Pollutants/analysis*
;
Environmental Exposure/adverse effects*
;
Spatio-Temporal Analysis
;
Adult
;
Sand
;
Air Pollution

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