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.Analysis of fungal infections of external auditory canal and its risk factors in patients with chronic otitis media.
Jilei ZHANG ; Youqi LU ; Qi LIU ; Yuanyuan JING ; Lisheng YU
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(1):57-60
Objective:The objective of this study is to analyze the detection rate, the pathogenic fungus distribution, risk factors and drug sensitivity of fungal infection of external auditory canal in patients diagnosed with chronic otitis media. Methods:The data of a total of 419 patients with chronic suppurative otitis media or middle ear cholesteatoma who were admitted from January 2019 to February 2023 were retrospectively analyzed. Results:A total of 419 patients were included, and 71 patients(16.9%) were positive for fungal culture. The disease mostly occurred in subjects aged 51-60 years old, and patients over 60 years old(47 cases, 66.2%). From the fungal culture of external auditory canal secretions, 48 cases(11.4%) of Aspergillus and 14 cases(3.3%) of Candida were identified. The prevalence of fungal cultures in patients with chronic suppurative otitis media(20.8%) was significantly higher than that in patients with middle ear cholectestoma(4.9%). The detection rate of Fungal was significantly increased after topical treatment with antibiotic ear drops(47.0% vs 13.6%). Most of the isolated fungal strains are wild-type, and they are the sensitivity to voriconazole and fluconazole was the highest(97.2%). For patients with positive fungal culture, iodoform gauze with triamcinolone acetonide and econazole cream was used to fill the external auditory canal during surgery. There was no significant difference in the tympanic membrane healing rate between patients with positive fungal culture and patients with negative fungal culture at 3 weeks after surgery(98.6% vs 97.7%). Conclusion:Fungal infections of external auditory canal in patients with chronic otitis media tend to occur in older patients, which is more common in patients with chronic suppurative otitis media. Long-term topical treatment with antibiotic ear drops is an independent risk factor for fungal infection of external auditory canal in patients with chronic otitis media. The isolated fungal strains were highly sensitive to antifungal drugs. Therefore, it is advisable to refrain from employing topical antibiotic treatment for elderly patients with chronic suppurative otitis media/middle ear cholesteatoma, abuse of local antibiotic therapy should be avoided, and Fungal-related pathogenic examinations should be actively performed and anti-fungal drugs should be added if necessary.
Humans
;
Middle Aged
;
Female
;
Male
;
Risk Factors
;
Retrospective Studies
;
Chronic Disease
;
Otitis Media, Suppurative/microbiology*
;
Ear Canal/microbiology*
;
Antifungal Agents/therapeutic use*
;
Adult
;
Mycoses/epidemiology*
;
Aspergillus/isolation & purification*
;
Candida/isolation & purification*
;
Otitis Media/complications*
;
Aged
;
Cholesteatoma, Middle Ear/microbiology*
4.Clinical characteristics of allergic rhinitis induced by pollen in northern China.
Sinan HE ; Lijia CHEN ; Wenhua MING ; Xiaoyan WANG ; Hongtian WANG ; Xueyan WANG
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(5):470-481
Objective:The prevalence of seasonal allergic rhinitis (AR) and its combined diseases have been increasing recently. The purpose was to investigate the clinical characteristics and treatment of seasonal AR in northern China. Methods:A cross-sectional study was conducted in AR patients. The Visual analogue scale (VAS), combined diseases, clinical features, allergic pollen and treatments were analyzed. Results:Of the 789 AR subjects included, 54.1% had a family history of atopic disease. The mian course wa s(7.4±5.9) years. 95.4% of the subjects had moderate to severe AR. The prevalence rates of allergic conjunctivitis (AC), allergic asthma (AA), and pollen food allergy syndrome (PFAS) were 71.1%, 19.0%, and 39.5% respectively. Among the patients, 13.8% presented with only AR, while 39.3% had an AR combined with other disease, and 1.9% exhibited comorbidity involving five different diseases. VAS was positively correlated with the number of comorbidities(r=0.186, P<0.001). The mugwort exhibited the highest rate of pollen sensitization (48.9%), closely followed by cypress (48.3%). The prevalence of mono-sensitization to pollen was 20.2%, while the positive rates for double-sensitized pollens and more than three sensitized pollens were 17.4% and 62.4%, respectively. Among the study participants, 19.9% did not receive any form of treatment, while 66.2% were administered oral medication and 27.5% underwent nasal steroid spray therapy. The proportion of individuals receiving anti-IgE monoclonal antibodies was 4.3%, and allergen immunotherapy (AIT) treatment was undergone by 11.8%. Meanwhile, 41.2% of patients undergoing anti-IgE monoclonal antibody treatment also received AIT. The distribution of therapy types among patients was as follows: 44.7% received a single type, 22.2% received two types, and 9.8% received three types of therapy. Additionally, there was a subset of patients(1%) who were undergoing five distinct forms of treatment. The VAS score exhibited a significant negative correlation with no treatment(r=-0.199, P<0.001), while it showed a positive association with the number of treatment modalities(r=0.245, P<0.001). Conclusion:Mugwort and cypress are the predominant allergenic pollens responsible for seasonal AR in northern China. The majority of cases present with moderate to severe AR, often accompanied by various comorbidities, necessitating consideration of diverse treatment modalities. However, the current rate of adoption for AIT remains relatively insufficient.
Humans
;
China/epidemiology*
;
Cross-Sectional Studies
;
Rhinitis, Allergic, Seasonal/therapy*
;
Pollen/immunology*
;
Adult
;
Male
;
Female
;
Young Adult
;
Adolescent
;
Middle Aged
;
Child
;
Prevalence
;
Allergens/immunology*
;
Asthma/epidemiology*
;
Conjunctivitis, Allergic
5.Analysis the influencing factors and risk warning of the therapeutic efficacy of multi plane low temperature plasma radiofrequency ablation for OSAHS.
Xing LIU ; Kaiwei DONG ; Meng LIU ; Huachao LI ; Bo NING
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(9):871-876
Objective:To analyze the efficacy, influencing factors, and risk warning of multi-plane low-temperature plasma radiofrequency ablation(MLT-RFA) in the treatment of obstructive sleep apnea hypopnea syndrome(OSAHS). Methods:A total of 118 OSAHS patients admitted from October 2022 to June 2024 were selected as the research subjects. They were divided into mild group(n=46), moderate group(n=52), and severe group(n=20) according to the severity of their condition. MLT-RFA treatment was used for all patients. After surgery, the results of polysomnography(PSG) and the changes in the Calier Sleep Apnea Quality of Life Index(SAQLI) were observed before and after treatment. The incidence of complications after treatment was recorded, and the clinical efficacy of the patients was evaluated. At the same time, they were divided into a treatment effective group(n=106) and an ineffective group(n=12) according to their effects. The general clinical data of the two groups were compared, and binary logistics regression analysis was conducted to identify independent factors that affect treatment efficacy and construct a model. ROC curve analysis was used to evaluate the diagnostic efficacy of the model. Results:The treatment effectiveness rate of the mild group was 93.48%, the moderate group was 90.38%, and the severe group was 80.00%. There was no statistically significant difference in the treatment effectiveness rate among the three groups(P>0.05). The AHI of the mild group, moderate group, and severe group increased sequentially, while the LSaO2and SAQLI scores decreased sequentially. After treatment, the AHI of all three groups decreased compared to before treatment, while the LSaO2and SAQLI scores increased compared to before treatment, and the differences were statistically significant(P<0.05). The pre-treatment AHI of the effective group was lower than that of the ineffective group, and the pre-treatment LSaO2and SAQLI were higher than those of the ineffective group, with statistically significant differences(P<0.05). Pre-treatment LSaO2and pre-treatment SAQLI are independent factors affecting the efficacy of MLT-RFA(P<0.05). The AUC of pre-treatment LSaO2, pre-treatment SAQLI, and combined prediction were 0.907, 0.763, and 0.947, respectively, with sensitivities of 0.896, 0.840, and 0.917, and specificities of 0.833, 0.667, and 0.887, respectively. Conclusion:MLT-RFA has a significant effect on the treatment of OSAHS, and the AHI, LSaO2, and SAQLI of patients before treatment can predict the treatment effect, with LSaO2 and SAQLI being independent influencing factors. The combinerd prediction model exhibits high diagnostic efficiency, sensitivity, and specificity.
Radiofrequency Ablation/methods*
;
Plasma Gases
;
Sleep Apnea, Obstructive/surgery*
;
Polysomnography
;
Postoperative Complications/epidemiology*
;
Quality of Life
;
Severity of Illness Index
;
Treatment Outcome
;
Humans
6.Survey on sleep status and OSA-18 questionnaire among preschool children in Zhongshan City.
Chengkun XU ; Minyi FU ; Zhong PAN ; Jie LUO
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(12):1171-1176
Objective:To investigate the sleep status of preschool children in Zhongshan City and the OSA-18 questionnaire scores among healthy preschool children. Methods:A cluster sampling method was adopted to select 2 222 students from 5 non-boarding kindergartens in Zhongshan from October 2022 to October 2023 as study subjects. Data were collected via an online questionnaire platform and analyzed using SPSS 27.0 statistical software. Results:A total of 1 317 valid questionnaires were collected, with an average sleep duration of(8.74±0.75) hours among children. The results of stepwise regression analysis showed that child age, prematurity, sleep latency, daily outdoor activity time, and activities within 30 minutes before bedtime were factors influencing children's nocturnal sleep duration(P<0.05). The overall incidence of sleep disorder-related symptoms was 56.80%, including restless sleep(24.14%), difficulty falling asleep(24.07%), snoring with mouth breathing(14.20%), bruxism(11.16%), enuresis(10.55%), sleep talking(6.08%), limb twitching(2.74%), and sleepwalking(0.53%). Various factors influenced these symptoms, and binary logistic regression analysis identified allergic diseases and a smaller number of siblings at home as the most prevalent risk factors(P<0.05). The overall OSA-18 score was 34.11±12.14, and binary logistic regression analysis identified males, allergic diseases, and tonsillar hypertrophy as risk factors for high OSA-18 scores(≥60)(P<0.05). Conclusion:In Zhongshan City, the nocturnal sleep duration of preschool children decreases with age, with independent risk factors for this prematurity, longer sleep latency, shorter daily outdoor activity time, and the use of electronic devices within 30minute before bedtime. Allergic diseases and a smaller number of siblings at home increase the risk of sleep-disordered breathing symptoms. Males, allergic diseases, and tonsillar hypertrophy have higher OSA-18 scores.
Humans
;
Child, Preschool
;
Surveys and Questionnaires
;
Male
;
Female
;
Sleep
;
China/epidemiology*
;
Sleep Apnea, Obstructive/epidemiology*
7.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
8.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
9.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
10.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


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