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

OBJECTIVE: To explore the incidence, clinical features, genetic variant characteristics and prognosis of Glutaric acidemia type I (GA1) among neonates from Henan Province. METHODS: A total of 814 625 neonates undergoing screening for inherited metabolic diseases by tandem mass spectrometry (MS/MS) at the Third Affiliated Hospital of Zhengzhou University from January 2016 to December 2022 were selected as the study subjects. A retrospective method was adopted to collect the clinical data of the patients. Whole exome sequencing was carried out to detect GCDH gene variants in individuals with positive results by GA1 newborn screening, and Sanger sequencing was used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was rated. This study was approved by the Medical Ethics Committee of the Hospital (Ethics Number: 2019 Medical Ethics Review No. 67). RESULTS: Eight cases of GA1 were diagnosed among the 814 625 neonates. Blood glutaryl carnitine (C5DC) and urine glutaric acid (GA) levels of the 8 children were higher than the normal reference values. In total 12 variants were detected, all of which were missense variants. c.1064G>A (p.Arg355His) was the most common one, accounting for 21.4% (3/14). Three GCDH gene variants, including 1297G>C (p.Ala433Pro), c.467G>A (p.Gly156Asp) and c.1125T>G (p.Cys375Trp), were previously unreported. REVEL software analysis predicted that all of the three variants were harmful. 3D protein structure modeling indicated that the three variants may cause amino acid residue alterations, and c.1297G>C (p.Ala433Pro) and c.1125T>G (p.Cys375Trp) may result in increase in hydrogen bonds and affect the function of GCDH protein. By December 2023, one of the eight children had deceased, and another child had severe clinical symptoms with poor prognosis. Six children had a good prognosis, of which two had mild motor development delay and four had normal development without clinical symptoms. CONCLUSION The incidence of GA1 in newborns screened by MS/MS in Henan Province is 1/101 828, and the carrier rate of pathogenic GCDH variants is 1/160. The c.1064G>A (p.Arg355His) may be the hotspot variant of the GCDH gene among children with GA1 in Henan. Discovery of the three novel variants has enriched the mutational spectrum of the GCDH gene and provide a basis for the early diagnosis, treatment, prognosis and genetic counseling of this disease.
Humans ; Amino Acid Metabolism, Inborn Errors/epidemiology* ; Glutaryl-CoA Dehydrogenase/chemistry* ; Infant, Newborn ; Female ; Neonatal Screening/methods* ; Male ; Brain Diseases, Metabolic/epidemiology* ; China/epidemiology* ; Retrospective Studies ; Mutation ; Genetic Variation ; Glutarates

OBJECTIVES: To analyze the changes in disease burden and risk factors of atrial fibrillation/atrial flutter (AF/AFL) in China and globally from 1990 to 2021 to provide epidemiological evidence for developing effective preventive measures for AF/AFL in China. METHODS: Based on data from the Global Burden of Disease Study 2021, we analyzed sex- and age-specific AF/AFL burden metrics across 204 countries or territories. Age-standardized incidence rate (ASIR), prevalence, mortality rate (ASMR), and disability-adjusted life-years (DALYs) rate (ASDR) were calculated. Joinpoint regression was employed to compute average annual percentage changes (AAPC) in trends. The risk factors were systematically evaluated and further validated using Mendelian randomization analysis. RESULTS: From 1990 to 2021, China experienced an increase in ASIR of AF/AFL (from 42.63 to 44.93 per 100 000), contrasting with the global decline. While China's ASMR decreased (from 4.93 to 4.33 per 100 000), global ASMR rose slightly (from 4.24 to 4.36 per 100 000). China's ASDR remained stable at 93.29 per 100 000, whereas global ASDR increased marginally (100.81 to 101.40 per 100 000). Significant sex disparities were observed: males showed higher ASIR and ASDR, while females exhibited greater ASMR and ASDR. China had higher incidence and prevalence but lower mortality and DALY rates compared to global averages. In 2021, the key risk factors for AF/AFL included elevated systolic blood pressure, high BMI, smoking, alcohol use, high-sodium diet, and low temperature. Gender-specific patterns emerged: smoking was predominant in males, whereas high BMI disproportionately affected females. CONCLUSIONS AF/AFL incidence and prevalence keep increasing in China, and its large population base and demographic aging pose significant public health challenges. Maintaining healthy lifestyle habits, including smoking cessation, alcohol moderation, and a low-sodium diet can help to lower AF/AFL incidence, and regular screenings is crucial for its early detection and treatment.
Humans ; China/epidemiology* ; Risk Factors ; Atrial Flutter/epidemiology* ; Atrial Fibrillation/epidemiology* ; Mendelian Randomization Analysis ; Male ; Female ; Global Burden of Disease ; Incidence ; Prevalence ; Middle Aged ; Disability-Adjusted Life Years ; Aged

OBJECTIVE: To analyze the demographic and clinical characteristics of inpatients with osteoporotic vertebral compression fractures (OVCF) and provide a basis for clinical prevention and treatment. METHODS: A retrospective analysis was performed on the clinical data of 744 inpatients diagnosed with OVCF between January 2017 and December 2021 who met the inclusion criteria. Among them, 146 were male and 598 were female, with age ranging from 50 to 95 years (mean, 69.37 years). The demographic characteristics (gender, age, ethnicity, occupation, regional distribution, urban-rural distribution, and seasonal incidence) and clinical features [causes of injury, history of vertebral fractures, smoking and drinking history in males, comorbidities (hypertension, diabetes, coronary atherosclerotic heart disease, cerebral infarction), body mass index (BMI), blood lipid levels, menopausal age in females, vertebral bone mineral density T-value, number of vertebral fractures, and fracture segment distribution] of OVCF patients were analyzed. Multiple linear regression was used to analyze the independent risk factors of vertebral osteoporosis. RESULTS: The demographic analysis indicated that female patients with OVCF were significantly younger than male patients ( P<0.05). Significant differences were observed in the age distribution of OVCF between males and females ( P<0.05), with the highest proportion of male patients in the 70-79 years group (37.0%) and the highest proportion of female patients in the 60-69 years group (40.0%). From 2017 to 2021, the age of onset for OVCF gradually increased, with a similar trend observed for both genders. The distribution of occupations between genders also showed significant differences ( P<0.05); with the top three occupations for males being farmers (48.6%), retirees (24.7%), and workers (13.7%), while for females, the leading occupations were farmers (51.5%), retirees (19.4%), and service workers (10.0%). Female OVCF patients had higher BMI, vertebral bone mineral density T-value, history of vertebral fractures, hypertension prevalence, and blood lipid levels compared to male patients ( P<0.05). No significant difference between the males and the females was found in ethnicity, seasonal distribution, regional distribution, urban-rural distribution, causes of injury, number of vertebral fractures, or prevalence of comorbidities (except hypertension) ( P>0.05). Among the 744 OVCF patients, a total of 1 309 vertebrae were involved, with 628 thoracic vertebrae (48.0%) and 681 lumbar vertebrae (52.0%). The most common fracture segments were L ₁ (22.5%), T ₁₂ (21.2%), followed by L ₂ (12.2%) and T ₁₁ (10.2%). No significant gender difference was observed in the distribution of fracture segments ( P>0.05). Multiple linear regression analysis indicated that older age, female, and lower BMI were independent risk factors for vertebral osteoporosis ( P<0.05). CONCLUSION The age of onset of OVCF patients is increasing year by year. The number of fractured vertebral bodies, age distribution of morbidity, occupational distribution, BMI, history of vertebral fracture, hypertension, and blood lipid levels are related to gender. The occurrence of OVCF is mainly in the thoracolumbar segment. The female, older age, and lower BMI are independent risk factors of osteoporosis.
Humans ; Male ; Female ; Aged ; Middle Aged ; Retrospective Studies ; Spinal Fractures/etiology* ; Aged, 80 and over ; Osteoporotic Fractures/etiology* ; Fractures, Compression/etiology* ; Risk Factors ; Bone Density ; China/epidemiology* ; Osteoporosis/epidemiology* ; Comorbidity ; Inpatients ; Sex Factors ; Age Factors

OBJECTIVE: To analyze the current status and temporal trends of the disease burden of spinal fractures in China from 1990 to 2021 based on data from the Global Burden of Disease Study 2021 (GBD 2021), aiming to provide evidence for developing prevention and treatment strategies. METHODS: Epidemiological data on spinal fractures in China, the United States of America (USA), and globally were extracted from the GBD 2021 database. Joinpoint regression models were applied to analyze temporal trends. Age-standardized incidence, prevalence, and disability-adjusted life years (DALYs) rates were calculated, with comparisons of gender- and age-group disparities. RESULTS: In 2021, the number of incident cases, prevalent cases, and DALYs of spinal fractures in China increased by 52.28%, 113.68%, and 106.98%, respectively, compared to 1990. The age-standardized incidence, prevalence, and DALYs rates rose by 11.80%, 16.11%, and 14.79%, respectively. The disease burden escalated significantly with age, peaking in individuals aged ≥75 years. Males exhibited higher age-standardized incidence and DALYs rates than females. Comparative analysis revealed that the age-standardized DALYs rate in China (4.19/100 000) was lower than that in globally (6.62/100 000) and USA (15.92/100 000). However, China showed an upward trend [annual average percentage change (AAPC)=0.19%], contrasting with a declining trend in the USA (AAPC=-0.08%). CONCLUSION The escalating disease burden of spinal fractures in China is closely linked to population aging, gender disparities, and insufficient targeted prevention policies. Future strategies should integrate age- and gender-specific interventions, including strengthened osteoporosis prevention, trauma risk control, and big data-driven precision measures, to mitigate this burden.
Humans ; China/epidemiology* ; Global Burden of Disease/trends* ; Male ; Female ; Spinal Fractures/epidemiology* ; Middle Aged ; Aged ; Disability-Adjusted Life Years ; Prevalence ; Incidence ; Adult ; Young Adult ; Adolescent ; Aged, 80 and over ; United States/epidemiology* ; Cost of Illness ; Quality-Adjusted Life Years ; Child

Stroke is a critical health issue in China, and carotid artery stenosis and plaque play key roles in its prevalence. Despite the acknowledged significance of this condition, detailed information regarding the prevalence of carotid artery stenosis and plaque across the Chinese population has been scarce. This study analyzed data from the China Stroke High-risk Population Screening and Intervention Program for 2020-2021, focusing on 194 878 Chinese adults aged 40 years and above. It assessed the prevalence of carotid artery stenosis and plaque and identified their associated risk factors. Results revealed a standardized prevalence of 0.40% for carotid artery stenosis and 36.27% for carotid plaque. Notably, the highest rates of stenosis were observed in north and south China at 0.61%, while southwestern China exhibited the highest plaque prevalence at 43.17%. Key risk factors included older age, male gender, hypertension, diabetes, stroke, smoking, and atrial fibrillation. This study highlights significant geographical and demographic disparities in the prevalence of these conditions, underlining the urgent need for targeted interventions and policy reforms. These measures are essential for reducing the incidence of stroke and improving patient outcomes, addressing this significant health challenge in China.
Humans ; China/epidemiology* ; Male ; Female ; Prevalence ; Middle Aged ; Carotid Stenosis/epidemiology* ; Risk Factors ; Aged ; Adult ; Plaque, Atherosclerotic/epidemiology* ; Stroke/epidemiology* ; Aged, 80 and over

Pelvic organ prolapse (POP), whose etiology is influenced by genetic and clinical risk factors, considerably impacts women's quality of life. However, the genetic underpinnings in non-European populations and comprehensive risk models integrating genetic and clinical factors remain underexplored. This study constructed the first polygenic risk score (PRS) for POP in the Chinese population by utilizing 20 disease-associated variants from the largest existing genome-wide association study. We analyzed a discovery cohort of 576 cases and 623 controls and a validation cohort of 264 cases and 200 controls. Results showed that the case group exhibited a significantly higher PRS than the control group. Moreover, the odds ratio of the top 10% risk group was 2.6 times higher than that of the bottom 10%. A high PRS was significantly correlated with POP occurrence in women older than 50 years old and in those with one or no childbirths. As far as we know, the integrated prediction model, which combined PRS and clinical risk factors, demonstrated better predictive accuracy than other existing PRS models. This combined risk assessment model serves as a robust tool for POP risk prediction and stratification, thereby offering insights into individualized preventive measures and treatment strategies in future clinical practice.
Humans ; Female ; Pelvic Organ Prolapse/epidemiology* ; Middle Aged ; Risk Assessment/methods* ; China/epidemiology* ; Multifactorial Inheritance ; Aged ; Risk Factors ; Genome-Wide Association Study ; Genetic Predisposition to Disease ; Case-Control Studies ; Adult ; Polymorphism, Single Nucleotide ; Genetic Risk Score ; East Asian People

The Healthy China 2030 Plan set the goal of reducing premature deaths from diabetes by 30% by 2030. However, there has been a lack of assessment of premature mortality for diabetes since the action plan was issued. This study used data from the Global Burden of Disease Study 2021, calculated the premature deaths for diabetes by sex, provinces, and subtypes from 1990 to 2021. We explored the temporal trend of premature mortality using the average annual percent change (AAPC) for different sexes, provinces, and subtypes from 1990 to 2021. Furthermore, we predicted premature mortality for diabetes through 2030 for China and its provinces according to the average annual change rate from 2010 to 2021. There was a first slow upward trend in premature mortality for diabetes from 0.5% in 1990 to 0.6% in 2004, and then a decline until 2021 with premature mortality of 0.4%. By 2030, only Fujian (30.3%) will achieve the desired level of reduction, with only seven provinces meeting the target for females and none for males. There is a large range in the degree of decline between inland and coastal regions, showing obvious geographic differences, and there should be a focus on balancing medical resources.
Humans ; China/epidemiology* ; Female ; Male ; Mortality, Premature/trends* ; Diabetes Mellitus/mortality* ; Goals ; Middle Aged ; Adult

Long-term exposure to particulate matter has been increasingly implicated in the progression of chronic kidney disease (CKD). However, its impact on IgA nephropathy (IgAN), a leading cause of end-stage renal disease (ESRD), remains unclear. A total of 1768 IgAN patients, confirmed by renal biopsy were included in this cohort study. Long-term exposure to PM_2.5 and PM₁₀ was assessed using high-resolution satellite-based data from the China High Air Pollutants (CHAP) dataset. Cox proportional hazards models were used to estimate the associations between PM_2.5 or PM₁₀ and ESRD risk, adjusting for demographic, clinical, and biochemical covariates. Over a median follow-up of 3.63 years, 209 participants progressed to ESRD. Higher exposure to both PM_2.5 and PM₁₀ was significantly associated with an increased risk, with hazard ratios of 1.62 and 1.36 per 10 µg/m³ increase, respectively. A nonlinear dose-response relationship was observed, with risk increasing markedly beyond threshold levels. Trajectory modeling of prebaseline exposure identified a subgroup with persistently high and fluctuating particulate matter exposure that showed the highest risk. This study provides strong evidence that prolonged exposure to ambient particulate matter contributes to renal disease progression in individuals with IgAN.
Humans ; Glomerulonephritis, IGA/pathology* ; Particulate Matter/adverse effects* ; Male ; Female ; Kidney Failure, Chronic/epidemiology* ; Adult ; China/epidemiology* ; Disease Progression ; Environmental Exposure/adverse effects* ; Middle Aged ; Proportional Hazards Models ; Risk Factors ; Air Pollutants/adverse effects* ; Cohort Studies

OBJECTIVE: To analyze the clinical characteristics, microbiological analysis, and drug resistance patterns of intensive care unit (ICU) bloodstream infection. METHODS: A prospective cohort study method was employed to collect clinical data from patients suspected of bloodstream infection (BSI) during their stay in ICUs across 67 hospitals in 16 provinces and cities nationwide, from July 1, 2021, to December 31, 2022. Electronic data collection technology was used to gather general information on ICU patients, including gender, age, length of hospital stay, as well as diagnostic results, laboratory tests, imaging studies, microbiological results (including smear, culture results, and pathogen high-throughput testing), and prognosis. Patients were divided into a BSI group and a non-BSI group based on the presence or absence of BSI; further, patients with BSI were categorized into a drug-resistant group and a non-drug-resistant group based on the presence or absence of drug resistance. Differences in the aforementioned indicators between groups were analyzed and compared; variables with P < 0.10 in the univariate analysis were included in a multivariate Logistic regression analysis to identify risk factors for mortality and drug resistance in ICU patients with BSI. RESULTS: A total of 2 962 ICU patients suspected of BSI participated in the study, including 790 in the BSI group and 2 172 in the non-BSI group. Patients in the BSI group were mainly from East China and Southwest China, with significantly higher age and mortality rates than those in the non-BSI group. Among ICU patients with BSI, Staphylococcus had the highest detection rate (8.10%), followed by Klebsiella pneumoniae (7.47%); there were 169 cases in the drug-resistant group and 621 cases in the non-drug-resistant group; 666 cases survived, and 124 cases died (mortality was 15.70%). There were statistically significant differences between the death group and the survival group in terms of age, regional distribution, and bloodstream infections caused by Gram negative (G^-) bacilli, Enterococcus faecium, Aspergillus, and Klebsiella pneumoniae; multivariate Logistic regression analysis showed that age [odds ratio (OR) = 1.01, 95% confidence interval (95%CI) was 1.00-1.03], regional distribution (OR = 4.07, 95%CI was 1.02-1.34), Enterococcus faecium infection (OR = 3.64, 95%CI was 1.16-11.45), and Klebsiella pneumoniae infection (OR = 2.64,95%CI was 1.45-4.80) were independent risk factors for death in ICU patients with BSI (all P < 0.05). There were statistically significant differences between the drug-resistant group and the non-drug-resistant group in terms of age and bloodstream infections caused by Gram positive (G⁺) cocci and G^- bacilli; multivariate Logistic regression analysis showed that age (OR = 1.01,95%CI was 1.00-1.03), G^- bacilli infection (OR = 2.18, 95%CI was 1.33-3.59), Escherichia coli infection (OR = 0.28,95%CI was 0.09-0.84), and Enterococcus faecium infection (OR = 3.35, 95%CI was 1.06-10.58) were independent risk factors for drug resistance in ICU patients with BSI (all P < 0.05). CONCLUSIONS Bloodstream infections may increase the mortality of ICU patients. Older age, regional distribution, Enterococcus faecium infection and Klebsiella pneumoniae infection can increase the mortality rate of ICU patients with BSI; bloodstream infections caused by G^- bacilli are prone to drug resistance, but have no significant impact on the mortality of ICU patients with BSI.
Adult ; Humans ; Bacteremia/microbiology* ; China/epidemiology* ; Cohort Studies ; Cross Infection/microbiology* ; Drug Resistance, Bacterial ; Intensive Care Units/statistics & numerical data* ; Prospective Studies ; Risk Factors ; Sepsis/microbiology*