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 describe in detail the research agenda-setting process of the Department of Health National Specialty Center for Eye Care with the guidance of the National Institute of Health (NIH) - Department of Clinical Epidemiology.

A research agenda technical working group (TWG) was organized to spearhead the research agenda setting, in collaboration and guidance of the NIH. After identifying relevant internal and external stakeholders, the TWG drafted a contextual map that served as an overarching framework. Research topics were obtained from the stakeholders and the TWG collated, reviewed and summarized prior to ranking them systematically. Each topic was prioritized through a weighted ranking system evaluating its feasibility, public health benefit, and resource/cost requirements. A final en banc session including the stakeholders was held to formalize the approval of the research agenda. An infographic was developed to serve as a visual guide for consultants and trainees in initiating research.

The TWG tallied 85 unique research topics from both the internal and external stakeholders. These topics encompassed a broad range of areas, including epidemiology, surgical, and medical management, health systems research, economic evaluations of interventions, and occupational/environmental factors.

The 2024-2027 research agenda of the Department of Health National Specialty Center for Eye Care was crafted, with the guidance of the NIH Department of Clinical Epidemiology. The goal was to improve the center's research output by aligning it with stakeholders thereby serving as a research benchmarking tool for the local ophthalmology community

OBJECTIVES

To create a pilot urologic malignancy registry using demographic and clinical data of a cohort of patients newly diagnosed to have urologic malignancies in the year 2021.

This was a prospective cohort study conducted in four study sites: National Kidney and Transplant Institute, East Avenue Medical Center, UP-Philippine General Hospital and Batangas Medical Center

A total of 243 patients with newly diagnosed urologic cancers were enrolled. The median age was 61 years, with a wide range of 1 to 87 years. Most of the patients (81.47%) were male, while there were 45 females (18.52%) who had either urinary bladder, kidney or upper urothelial cancer. The most common type of malignancy was prostate cancer (34.57%), followed by kidney cancer (30.04%) and urinary bladder cancer (24.69%), consistent with the currently observed worldwide incidence. There were also 3 patients (1.23%) noted with multiple primaries. More than half of the patients (63.37%) received surgery as active treatment. After the two-year follow-up period, thirteen patients (5.35%) developed progressive disease, and 14 patients (5.76%) died.

This urologic cancer registry represents the first multi-center, investigator-initiated epidemiologic study of its kind in the Philippines. As a proof-of-concept (POC) project, it demonstrates the feasibility of establishing a national database capturing baseline data on the country’s most common urologic malignancies.

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

OBJECTIVE: To investigate the incidence of sepsis in Xinjiang Uygur Autonomous Region and the compliance with sepsis diagnosis and treatment guidelines in intensive care unit (ICU) at different levels of hospitals, and to identify the risk factors associated with poor prognosis in patients with sepsis in this region. METHODS: A prospective cross-sectional survey was conducted in ICU of Xinjiang Uygur Autonomous Region Critical Care Medicine Alliance. The survey period was from 10:00 on January 31, 2024, to 09:59 on February 1, 2024. The patients diagnosed with sepsis admitted to the ICU during the study period were included in the analysis. Data on patient demographics, physiology, microbiology, and treatment protocols were collected, with follow-up until the 28th day after ICU admission or death. Baseline characteristics and treatment information of septic patients across different hospital levels were compared, as well as clinical data of septic patients with different 28-day outcomes. Multivariate Cox proportional hazards model was used to identify risk factors for 28-day death in septic patients. RESULTS: A total of 77 units of Xinjiang Uygur Autonomous Region Critical Care Medicine Alliance from 14 prefectures/cities in Xinjiang participated in the survey. On the survey day, 727 patients were admitted to ICU, of whom 179 (24.6%) were diagnosed with sepsis, and 64 (35.8%) died within 28 days, 115 (64.2%) survived. Among the participating institutions, 33 were tertiary hospitals (42.9%), managing 97 septic cases (54.2%), and 44 were secondary hospitals (57.1%), managing 82 septic cases (45.8%). The lactic acid monitoring rate and continuous renal replacement therapy (CRRT) rate for septic patients in tertiary hospitals were significantly higher than those in secondary hospitals [lactic acid monitoring rate: 92.8% (90/97) vs. 82.9% (68/82), CRRT rate: 17.5% (17/97) vs. 3.7% (3/82), both P < 0.05]. No statistically significant differences were observed between tertiary and secondary hospitals in length of ICU stay or 28-day mortality [length of ICU stay (days): 11.0 (16.0) vs. 10.0 (22.0), 28-day mortality: 35.1% (34/97) vs. 36.6% (30/82), both P > 0.05]. Compared with survivors, non-survivors had higher acute physiology and chronic health evaluation II (APACHE II) score, sequential organ failure assessment (SOFA) score, Charlson comorbidity index (CCI) score and lower Glasgow coma scale (GCS) score. Significant differences were noted in vital signs [heart rate, blood pressure, body temperature, pulse oxygen saturation (SpO₂)], laboratory markers [red blood cell count (RBC), white blood cell count (WBC), lymphocyte ratio (LYM%), blood urea nitrogen (BUN), total protein (TP), albumin (Alb), pH value, base excess (BE)], and monitoring, diagnosis and treatment information (invasive blood pressure monitoring, mechanical ventilation, CRRT, usage of norepinephrine). Multivariate Cox proportional hazards model indicated that body temperature [hazard ratio (HR) = 1.416, 95% confidence interval (95%CI) was 1.022-1.961, P = 0.037] and WBC (HR = 1.040, 95%CI was 1.010-1.071, P = 0.009) were independent risk factors for 28-day death in patients with sepsis. CONCLUSIONS Sepsis in Xinjiang Uygur Autonomous Region is characterized by a high mortality. In this region, tertiary hospitals demonstrate better compliance with bundled treatment strategies such as lactic acid monitoring and the usage of CRRT compared to secondary hospitals, yet they do not show significant advantages in clinical outcomes. Body temperature and WBC are independent risk factors for 28-day death in patients with sepsis in this region. However, clinicians should still consider the actual situation of patients, along with more optimal early warning indicators and comprehensive system assessments, to identify and prevent risk factors for adverse outcomes in patients.
Humans ; Sepsis/diagnosis* ; Cross-Sectional Studies ; Prospective Studies ; Risk Factors ; Intensive Care Units ; Prognosis ; China/epidemiology* ; Male ; Female ; Middle Aged ; Aged ; Proportional Hazards Models ; Incidence

OBJECTIVE: The relationship between fish consumption and stroke is inconsistent, and it is uncertain whether this association varies across predicted stroke risks. METHODS: A cohort study comprising 95,800 participants from the Prediction for Atherosclerotic Cardiovascular Disease Risk in China project was conducted. A standardized questionnaire was used to collect data on fish consumption. Participants were stratified into low- and moderate-to-high-risk categories based on their 10-year stroke risk prediction scores. Hazard ratios ( HRs) and 95% confidence intervals ( CIs) were estimated using Cox proportional hazard models and additive interaction by relative excess risk due to interaction (RERI), attributable proportion (AP), and synergy index (SI). RESULTS: During 703,869 person-years of follow-up, 2,773 incident stroke events were identified. Higher fish consumption was associated with a lower risk of stroke, particularly among moderate-to-high-risk individuals ( HR = 0.53, 95% CI: 0.47-0.60) than among low-risk individuals ( HR = 0.64, 95% CI: 0.49-0.85). A significant additive interaction between fish consumption and predicted stroke risk was observed (RERI = 4.08, 95% CI: 2.80-5.36; SI = 1.64, 95% CI: 1.42-1.89; AP = 0.36, 95% CI: 0.28-0.43). CONCLUSION Higher fish consumption was associated with a lower risk of stroke, and this beneficial association was more pronounced in individuals with moderate-to-high stroke risk.
Humans ; China/epidemiology* ; Male ; Female ; Stroke/etiology* ; Middle Aged ; Prospective Studies ; Incidence ; Aged ; Animals ; Fishes ; Risk Factors ; Diet ; Seafood ; Adult ; Cohort Studies

OBJECTIVE: This study aimed to investigate the impact of glycemic control and diabetes duration on subsequent myocardial infarction (MI) in patients with both coronary heart disease (CHD) and type 2 diabetes (T2D). METHODS: We conducted a retrospective cohort study of 33,238 patients with both CHD and T2D in Shenzhen, China. Patients were categorized into 6 groups based on baseline fasting plasma glucose (FPG) levels and diabetes duration (from the date of diabetes diagnosis to the baseline date) to examine their combined effects on subsequent MI. Cox proportional hazards regression models were used, with further stratification by age, sex, and comorbidities to assess potential interactions. RESULTS: Over a median follow-up of 2.4 years, 2,110 patients experienced MI. Compared to those with optimal glycemic control (FPG < 6.1 mmol/L) and shorter diabetes duration (< 10 years), the fully-adjusted hazard ratio ( HR) (95% Confidence Interval [95% CI]) for those with a diabetes duration of ≥ 10 years and FPG > 8.0 mmol/L was 1.93 (95% CI: 1.59, 2.36). The combined effects of FPG and diabetes duration on MI were largely similar across different age, sex, and comorbidity groups, although the excess risk of MI associated with long-term diabetes appeared to be more pronounced among those with atrial fibrillation. CONCLUSION Our study indicates that glycemic control and diabetes duration significant influence the subsequent occurrence of MI in patients with both CHD and T2D. Tailored management strategies emphasizing strict glycemic control may be particularly beneficial for patients with longer diabetes duration and atrial fibrillation.
Humans ; Diabetes Mellitus, Type 2/blood* ; Male ; Female ; Middle Aged ; Aged ; Coronary Disease/complications* ; Myocardial Infarction/etiology* ; Retrospective Studies ; China/epidemiology* ; Glycemic Control ; Blood Glucose ; Adult ; Risk Factors ; Time Factors

OBJECTIVE: The relationship between non-high-density lipoprotein (NHDL) cholesterol to high-density lipoprotein cholesterol (HDL-C) ratio (NHHR) and stoke remains unknown. This study aimed to evaluate the association between the adult NHHR and stroke occurrence in the United States of America (USA). METHODS: To clarify the relationship between the NHHR and stroke risk, this study used a multivariable logistic regression model and a restricted cubic spline (RCS) model to investigate the association between the NHHR and stroke, and data from the National Health and Nutrition Examination Survey (NHANES) from 2005 to 2018. Subgroup and sensitivity analyses were conducted to test the robustness of the results. RESULTS: This study included 29,928 adult participants, of which 1,165 participants had a history of stroke. Logistic regression analysis of variables demonstrated a positive association between NHHR and stroke ( OR 1.24, 95% CI: 1.03-1.50, P = 0.026). Compared with the lowest reference group of NHHR, participants in the second, third, and fourth quartile had a significantly increased risk of stroke after full adjustments ( OR: 1.35, 95% CI: 1.08-1.69) ( OR: 1.83, 95% CI: 1.42-2.36) ( OR: 2.04, 95% CI: 1.50-2.79). In the total population, a nonlinear dose-response relationship was observed between the NHHR and stroke risk ( P non-linearity = 0.002). This association remained significant in several subgroup analyses. Further investigation of the NHHR may enhance our understanding of stroke prevention and treatment. CONCLUSION Our findings suggest a positive correlation between the NHHR and an increased prevalence of stroke, potentially serving as a novel predictive factor for stroke. Timely intervention and management of the NHHR may effectively mitigate stroke occurrence. Prospective studies are required to validate this association and further explore the underlying biological mechanisms.
Humans ; Stroke/blood* ; United States/epidemiology* ; Male ; Female ; Middle Aged ; Cross-Sectional Studies ; Nutrition Surveys ; Adult ; Aged ; Cholesterol, HDL/blood* ; Cholesterol/blood* ; Risk Factors

OBJECTIVE: Exposure to polycyclic aromatic hydrocarbons (PAHs) or metal(loid)s individually has been associated with neural tube defects (NTDs). However, the impacts of PAH and metal(loid) co-exposure and potential interaction effects on NTD risk remain unclear. We conducted a case-control study in China among population with a high prevalence of NTDs to investigate the combined effects of PAH and metal(loid) exposures on the risk of NTD. METHODS: Cases included 80 women who gave birth to offspring with NTDs, whereas controls were 50 women who delivered infants with no congenital malformations. We analyzed the levels of placental PAHs using gas chromatography and mass spectrometry, PAH-DNA adducts with ³²P-post-labeling method, and metal(loid)s with an inductively coupled plasma mass spectrometer. Unconditional logistic regression was employed to estimate the associations between individual exposures and NTDs. Least absolute shrinkage and selection operator (LASSO) penalized regression models were used to select a subset of exposures, while additive interaction models were used to identify interaction effects. RESULTS: In the single-exposure models, we found that eight PAHs, PAH-DNA adducts, and 28 metal(loid)s were associated with NTDs. Pyrene, selenium, molybdenum, cadmium, uranium, and rubidium were selected through LASSO regression and were statistically associated with NTDs in the multiple-exposure models. Women with high levels of pyrene and molybdenum or pyrene and selenium exhibited significantly increased risk of having offspring with NTDs, indicating that these combinations may have synergistic effects on the risk of NTDs. CONCLUSION Our findings suggest that individual PAHs and metal(loid)s, as well as their interactions, may be associated with the risk of NTDs, which warrants further investigation.
Humans ; Neural Tube Defects/chemically induced* ; Polycyclic Aromatic Hydrocarbons/adverse effects* ; Female ; Case-Control Studies ; China/epidemiology* ; Adult ; Pregnancy ; Environmental Pollutants ; Maternal Exposure/adverse effects* ; Metals/toxicity* ; Young Adult ; Risk Factors

OBJECTIVE: The results of limited studies on the relationship between environmental pollution and dementia have been contradictory. We analyzed the combined effects of PM _2.5 and smoking on the prevalence of dementia and cognitive impairment in an elderly community-dwelling Chinese population. METHODS: We assessed 24,117 individuals along with the annual average PM _2.5 concentrations from 2012 to 2016. Dementia was confirmed in the baseline survey at a qualified clinical facility, and newly suspected dementia was assessed in 2017, after excluding cases of suspected dementia in 2015. National census data were used to weight the sample data to reflect the entire population in China, with multiple logistic regression performed to analyze the combined effects of PM _2.5 and smoking frequency on dementia and cognitive impairment. RESULTS: Individuals exposed to the highest PM _2.5 concentration and smoked daily were at higher risk of dementia than those in the lowest PM _2.5 concentration group ( OR, 1.603; 95% CI [1.626-1.635], P < 0.0001) and in the nonsmoking group ( OR, 1.248; 95% CI [1.244-1.252]; P < 0.0001). Moderate PM _2.5 exposure and occasional smoking together increased the short-term risk of cognitive impairment. High-level PM _2.5 exposure and smoking were associated with an increased risk of dementia, so more efforts are needed to reduce this risk through environmental protection and antismoking campaigns. CONCLUSION High-level PM _2.5 exposure and smoking were associated with an increased risk of dementia. Lowering the ambient PM _2.5, and smoking cessation are recommended to promote health.
Humans ; Dementia/etiology* ; Male ; Aged ; Female ; Cognitive Dysfunction/etiology* ; China/epidemiology* ; Particulate Matter/analysis* ; Smoking/epidemiology* ; Air Pollutants/analysis* ; Aged, 80 and over ; Environmental Exposure/adverse effects* ; Prevalence ; Middle Aged