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.The research agenda-setting for the Department of Health National Specialty Center for Eye Care.
Philippine Journal of Ophthalmology 2026;51(1):17-25
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.
METHODSA 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.
RESULTSThe 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.
CONCLUSIONThe 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
Human ; Epidemiology ; Eye ; Health ; Research
3.Larvicidal activity of Annona squamosa (Atis) leaves extract on Aedes aegypti
Marisol S. Molina-adorable ; Ramon Jason M. Javier
Health Sciences Journal 2025;14(1):12-17
INTRODUCTION
Effective mosquito control is pivotal in the epidemiology of vector-borne diseases, but no successful preventive measures have been recorded for dengue vector control. Hence, possible alternatives to chemical larvicides have been explored, including plant alcoholic extracts. This study determined the larvicidal efficacy of Annona squamosa ethanolic leaf extracts against third instar larvae of Aedes aegypti.
METHODSThree replicates of varying concentrations of Annona squamosa ethanolic extract (i.e., 10%, 40%, and 70%) versus positive (Novaluron) and negative controls (tap water) were used to determine larval mortality.
RESULTSGreatest larval mortality was noted using the 70% concentration (i.e., 24% versus the observed values of 20% and 8%, respectively for the 40% and 10% ethanolic concentrations). Relative to the controls, the mean differences in the mortality rates of the Aedes aegypti larvae across the leaf ethanolic concentrations were statistically significant (i.e., p-value < 0.05). There was increasing trend in larval mortality over time, but 50% lethal dose was not achieved. In conclusion, the different Annona squamosa ethanolic leaf extracts could be used as alternative botanical larvicides against Aedes species.
Plants ; Animals ; Epidemiology ; Mosquito Control
4.Impact on transmissibility and case fatality rate of COVID-19 of the mandatory face shield use in addition to mask during the pandemic: The Philippine experience.
Mario B. PRADO JR. ; Manuel Peter Paul C. JORGE II
Acta Medica Philippina 2025;59(17):98-104
BACKGROUND
While wearing face shields and other gears to protect the facial mucous membranes not covered by face masks are proven to decrease the odds of infection in the hospital setting, there is no concrete evidence of its efficacy in the general public.
OBJECTIVETo determine the effectiveness of face shield use in the general public in the local setting.
METHODSThis study utilized an ecological study design, with the weeks when the policy was implemented serving as the exposure variable while the weeks when the policy was not in effect, whether prior to or after, serving as control. Primary outcomes were mean incidence of COVID-19 and case fatality rate (CFR) per week.
RESULTSWhen the mandatory face shield use was implemented, the mean incidence of COVID-19 per week was higher compared to weeks when it was not implemented [93 cases per 1000 population per week (ptpw) vs 65 cases, relative risk:1.43, z=-3.79, p=0.0001]. Moreover, during weeks when only less than 50% of the population was vaccinated with first dose (93 cases ptpw vs 52 cases, RR: 1.79, z=-4.3, pCONCLUSIONS
In general, although face shield use increased susceptibility to COVID-19, it decreased case fatality rate in the Philippines. However, a more robust and controlled study in the future may be needed to truly justify its recommendation for the public.
Covid-19 ; Epidemiology ; Public Health ; Philippines
5.Newborn screening, clinical characteristics and genetic variant analysis of Glutaric acidemia type I in Henan Province.
Xinyun ZHU ; Dehua ZHAO ; Yizhuo XU ; Jie ZHANG ; Xiaole LI ; Suna LIU ; Min NI ; Yihui REN ; Chong ZHANG ; Yaqing GUO ; Junqi LI ; Shubo LYU ; Chenlu JIA ; Ying SHI
Chinese Journal of Medical Genetics 2025;42(6):641-647
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
6.An atrial fibrillation prediction model based on quantitative features of electrocardiogram during sinus rhythm in the Chinese population.
Xiaoqing ZHU ; Yajun SHI ; Juan SHEN ; Qingsong WANG ; Tingting SONG ; Jiancheng XIU ; Tao CHEN ; Jun GUO
Journal of Southern Medical University 2025;45(2):223-228
OBJECTIVES:
To develop an early atrial fibrillation (AF) risk prediction model based on large-scale electrocardiogram (ECG) data from the Chinese population.
METHODS:
The data of multiple ECG records of 30 383 patients admitted in the Chinese PLA General Hospital between 2009 and 2023 were randomly divided into the training set and the internal testing set in a 7:3 ratio. The predictive factors were selected based on the training set using univariate analysis, LASSO regression, and the Boruta algorithm. Cox proportional hazards regression was used to establish the ECG model and the composite model incorporating age, gender, and ECG model score. The discrimination power, calibration, and clinical net benefits of the models were evaluated using the area under the receiver operating characteristic curve (AUROC), calibration curves, and decision curves.
RESULTS:
The cohort included 51.1% male patients with a median age of the patients of 51 (36, 62) years and an AF incidence of 4.5% (1370/30 383). In the ECG model, the parameters related to the P wave and QRS complex were identified as significant predictors. In the testing set, the AUROC of the ECG model for predicting 5-year AF risk was 0.77 (95% CI: 0.74-0.80), which was increased to 0.81 (95% CI: 0.78-0.83) after incorporating age and gender, with a net reclassification improvement of 0.123 and an integrated discrimination improvement of 0.04 (P<0.05). The calibration curve of the model was close to the diagonal line. Decision curve analysis showed that the clinical net benefit of the composite model was higher than that of the ECG model across the majority of threshold probability.
CONCLUSIONS
The composite model incorporating quantitative ECG features during sinus rhythm, along with age and gender, can effectively predict AF risk in the Chinese population, thus providing a low-cost screening tool for early AF risk assessment and management.
Humans
;
Atrial Fibrillation/epidemiology*
;
Electrocardiography
;
Middle Aged
;
Male
;
Female
;
China/epidemiology*
;
Proportional Hazards Models
;
Adult
;
Risk Factors
;
Risk Assessment
;
East Asian People
7.Multiple arterial grafts does not increase perioperative or short- to medium-term risks of postoperative MACE in patients with impaired left ventricular function: 3-year follow-up results.
Ziru LI ; Shengwei BAI ; Jian ZHANG ; Hao XU ; Suhua ZANG ; Xin ZHANG
Journal of Southern Medical University 2025;45(2):239-244
OBJECTIVES:
To compare perioperative and mid-term results of multiple versus single arterial off-pump coronary artery bypass grafting (OPCABG) in patients with impaired left ventricular function.
METHODS:
This study was conducted among 86 patients with a left ventricular ejection fraction (LVEF) <50%, who underwent OPCABG at our hospital between January, 2018 and December, 2021. Of these patients, 22 underwent OPCABG with multiple arterial grafts (multiple graft group) and 64 received a single arterial graft in OPCABG (single graft group). The preoperative, intraoperative, and perioperative data were collected, and the patients were followed up for a mean of 29.28±14.84 months. The perioperative outcomes and follow-up results of the patients were compared, and the factors influencing major adverse cardiovascular events (MACE) were identified using logistic regression. Kaplan-Meier analysis was used to compare the postoperative survival rate without MACE.
RESULTS:
The patients in multiple graft group had a significantly younger age than those in single graft group (P<0.05), but the other baseline data were similar between the two groups (P>0.05). Perioperative mortality, 24-h postoperative drainage volume, length of ICU stay, intubation time, and the incidence of new-onset atrial fibrillation were all similar between the two groups (P>0.05), but the rate of postoperative hypotension was significantly higher in multiple graft group (34.78% vs 11.54%, P=0.009). No significant differences were found in the incidence of MACE or echocardiographic data during the follow-up. Logistic regression identified the female sex (OR: 0.191, 95% CI: 0.049-0.075) and creatinine level (OR: 1.016, 95% CI: 1.000-1.033) as factors affecting postoperative MACE occurrence. Kaplan-Meier analysis showed no significant difference in MACE-free survival rate between the two groups.
CONCLUSIONS
OPCABG with multiple arterial grafts does not increase severe perioperative complications or the risk of mid-term MACE in patients with impaired left ventricular function.
Humans
;
Follow-Up Studies
;
Postoperative Complications/epidemiology*
;
Ventricular Dysfunction, Left/physiopathology*
;
Coronary Artery Bypass, Off-Pump/adverse effects*
;
Male
;
Female
;
Ventricular Function, Left
;
Middle Aged
;
Risk Factors
;
Aged
;
Perioperative Period
;
Stroke Volume
8.Epidemiological survey of osteoporosis in Beijing over the past decade: a single-center analysis of dual-energy X-ray absorptiometry scans from 30 599 individuals.
Ying ZHOU ; Danyang ZHANG ; Lifan WU ; Guishan WANG ; Jiedan MU ; Chengwen CUI ; Xiuxiu SHI ; Jige DONG ; Yu WANG ; Wangli XU ; Xiao LI
Journal of Southern Medical University 2025;45(3):443-452
OBJECTIVES:
To analyze bone mass distribution and the factors affecting bone mass in a general Chinese Han cohort undergoing physical examinations at our center.
METHODS:
We retrospectively collected the data of bone mineral density (BMD) measurements from 30 599 healthy Han Chinese adults (age≥20 years) who underwent dual-energy X-ray absorptiometry scans at our hospital from July, 2013 to July, 2023. Basic parameters including height, body weight, and gender were recorded, and descriptive statistics and correlation analyses were performed using R software.
RESULTS:
In this cohort, the male individuals had a mean peak BMD of 1.00±0.12 g/cm2 in the lumbar vertebrae, 0.94±0.14 g/cm2 in the femoral neck, and 0.99±0.13 g/cm2 in the total hip, significantly higher than the values in the female individuals [0.99±0.12 g/cm2 in the lumbar vertebrae (P=0.022), 0.79±0.11 g/cm2 in the femoral neck (P<0.001), and 0.88±0.11 g/cm2 in the total hip (P<0.001)]. In the overall cohort, the BMD values of the lumbar spine and femur decreased with age after reaching their peak levels. There was a positive correlation between BMD value and body mass index (BMI) in both male and female individuals. The 2013-2014 period recorded the lowest BMD values in the lumbar, hip, and femoral neck, which tended to increase steadily in the following years (2015-2023).
CONCLUSIONS
Our data suggest that the BMD values vary among different populations, and future multi-center studies using more accurate BMD detection technology are warranted to capture the variation patterns of BMD with demographic characteristics of specific populations.
Humans
;
Bone Density
;
Absorptiometry, Photon
;
Male
;
Female
;
Retrospective Studies
;
Osteoporosis/diagnostic imaging*
;
Adult
;
Middle Aged
;
Lumbar Vertebrae/diagnostic imaging*
;
China/epidemiology*
;
Femur Neck/diagnostic imaging*
;
Aged
;
Beijing/epidemiology*
;
Young Adult
9.Risk factors for overall postoperative complications in elderly patients undergoing gastrointestinal surgeries: a multicenter observational study.
Xuecai LÜ ; Yanhong LIU ; Shiyi HAN ; Haoyun ZHANG ; Aisheng HOU ; Zhikang ZHOU ; Likai SHI ; Jie GAO ; Jiangbei CAO ; Hong ZHANG ; Weidong MI
Journal of Southern Medical University 2025;45(4):736-743
OBJECTIVES:
To investigate the risk factors of overall postoperative complications in elderly patients undergoing gastrointestinal surgeries.
METHODS:
This study was conducted among a total of 1388 elderly patients, who underwent elective gastrointestinal surgeries at 17 centers across China between April, 2020 and April, 2022. The primary outcome was the incidence of postoperative complications within 30 days, including procedure-related, neuropsychiatric, respiratory, cardiovascular, and gastrointestinal complications as well as acute kidney injury. Baseline characteristics, preoperative psychological and functional status, intraoperative anesthesia and surgical factors, intraoperative medication, use of nerve block, and postoperative analgesia methods were compared between the patients experiencing one or more postoperative complications and those without complications. Univariate and multivariate logistic regression analyses were performed to identify the independent risk factors for postoperative complications. The relationship between postoperative acute pain and each type of complication were explored.
RESULTS:
The incidence of overall postoperative complications was 50.8% (705/1388) in these patients. Multivariate analysis showed that age (OR: 1.026; 95% CI: 1.006-1.046), prognostic nutritional index (OR: 0.998; 95% CI: 0.997-1.000), preoperative EuroQol-5 dimensions score (OR: 0.094; 95% CI: 0.018-0.500), blood loss (OR: 1.002; 95% CI: 1.001-1.003), and acute postoperative pain (OR: 1.308; 95% CI: 1.033-1.657) were significantly associated with the occurrence of postoperative complications. Specifically, patients experiencing severe postoperative pain had a significantly higher incidence of neuropsychiatric (27.2% vs 19.8%), procedure-related (17.3% vs 10.2%), and cardiovascular complications (3.6% vs 1.7%).
CONCLUSIONS
An advanced age, a low preoperative nutritional index, a poor quality of life score, a greater volume of intraoperative blood loss, and acute postoperative pain are independent risk factors for postoperative complications in elderly patients undergoing gastrointestinal surgeries. There is a significant association between acute postoperative pain and multi-system complications.
Humans
;
Postoperative Complications/etiology*
;
Aged
;
Risk Factors
;
Digestive System Surgical Procedures/adverse effects*
;
Male
;
Female
;
China/epidemiology*
;
Pain, Postoperative/epidemiology*
;
Incidence
;
Aged, 80 and over
10.Materialistic values and their association with depression in medical postgraduates: materialism leads to higher risk of depression.
Journal of Southern Medical University 2025;45(6):1220-1225
OBJECTIVES:
To explore the values of materialism in medical postgraduates and its relationship with depression.
METHODS:
We conducted a survey among 592 postgraduates in clinical medicine using Materialism Tendency Scale (MTS) and Patient Health Questionnaire-9 (PHQ-9). Descriptive analysis, mean comparison, and correlation analysis were used for data analysis.
RESULTS:
The postgraduates had a mean total score of materialism of 56.36±10.44, and 11.8%, 54.1%, and 34.1% of them reported high, medium, and low levels of materialism, respectively. No significant differences were found in the total score of materialism among the postgraduates of different genders or with different family economic levels, but the postgraduates from urban families had a significantly higher level of materialism than those from rural families (P<0.001). 18.4% of the postgraduates screened positive for moderate to severe depressive symptoms. The total score of MTS was positively correlated with depression (r=0.289, P<0.001). The dimension scores of MTS for materialism obsessions, material vanity, material interest, and material pursuit were all positively correlated with depression (r=0.183-0.289, P<0.001). The depressive symptoms and their overall levels differed significantly among individuals with different levels of materialism, and higher levels of materialism were associated with severer depressive symptoms (F=18.792, P<0.001) and a higher positive rate of depression (χ2=27.528, P<0.001).
CONCLUSIONS
Materialistic values may increase the risk of depression among medical postgraduates.
Humans
;
Depression/epidemiology*
;
Surveys and Questionnaires
;
Female
;
Adult
;
Male
;
Middle Aged
;
Risk Factors


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