To summarize the clinical characteristics and genetic mutation spectrum of patients with SELENON-related myopathy(SELENON-RM), in order to improve awareness among physicians.

ObjectiveTo investigate the T lymphocyte subset levels and viral loads in newly human immunodeficiency virus (HIV) antibody-confirmed positive cases in Suzhou (2021‒2024), and to analyze potential influencing factors by integrating their demographic characteristics, immune status, and viral replication patterns, thereby providing evidence for HIV/acquired immune deficiency syndrome (AIDS) prevention and control. MethodsPeripheral whole blood samples were collected from newly confirmed HIV-positive cases in Suzhou from 2021 to 2024. T lymphocyte subset analysis and viral load testing were performed, and influencing factors were identified in combination with demographic characteristics. Logistic regression models were employed to identify factors associated with CD4⁺T lymphocyte counts ≤350 cells·μL^-1, and Spearman’s rank correlation test was used to analyze the correlation between logarithmic value of viral load and CD4⁺/CD8⁺ ratio. ResultsAmong the 3 022 confirmed HIV-positive samples, the median CD4⁺T lymphocyte count was 298.00 cells·μL^-1, with 882 cases (29.19%) showing CD4⁺ T lymphocyte counts <200 cells·μL^-1. The median CD8⁺T lymphocyte count was 1 011.00 cells·μL^-1. The median CD4⁺/CD8⁺ ratio was 0.28, with 32.46% of cases exhibiting CD4⁺/CD8⁺ ratios <0.20, and there were statistically significant differences in CD4⁺/CD8⁺ ratio among different genders, age groups, marital status, and sample sources (all P<0.05). Multivariate logistic regression analyses indicated that individuals aged ≥20 years, those who were divorced or widowed, and cases identified through medical institutions had a significantly higher proportion of CD4⁺T lymphocyte counts ≤350 cells·µL⁻¹ compared to those aged <20 years, unmarried individuals, and cases sourced from voluntary counseling and testing (VCT) clinics, respectively. The mean logarithmic value of viral load was (4.29±1.15) copies·mL^-1. The logarithmic value of viral load demonstrated a significantly negative correlation with both CD4⁺/CD8⁺ ratio (r=-0.43, P<0.001) and CD4⁺T lymphocyte count (r=-0.37, P<0.001). ConclusionA substantial proportion of newly diagnosed HIV/AIDS cases in Suzhou are late presenters with high viral load levels. Targeted interventions should prioritize high-risk populations through enhanced active surveillance and the implementation of combined T lymphocyte subsets analysis and viral load testing, which can enable earlier case-finding and timely antiretroviral therapy initiation.

Objective: To quantitatively assess the health risk of preservatives from beverages around primary schools in Anshun City, and to provide scientific basis for precise food safety supervision. Methods: From December 2023 to July 2024, 602 beverage samples were randomly collected from within 100 meters of 19 primary schools in Anshun City. The content of benzoic acid, sorbic acid, and dehydroacetic acid was detected according to GB 5009 series standards. Combined with children s physiological parameters (body weight 30 kg, daily intake 0.15 L), the Hazard Quotient (HQ) and Hazard Index (HI) models were used to evaluate health risks. Results: The total detection rate of preservatives from beverages around primary schools was 63.0%, and the total over limit rate was 9.0%. The detection rate of preservatives in flavored beverages was the highest (72.6%), and the highest over limit rate of preservatives in special purpose beverages was the highest (17.2%). The single preservative HQ (benzoic acid up to 0.47 ) and mixed HI (up to 0.55) of all samples were below 1(safety threshold). However, the HQ value of benzoic acid in flavored beverages (0.47) was 2.9 times that of sorbic acid (0.16), contributing significantly to health risk. Sensitivity analysis showed that if the daily consumption increased to 0.3 L, the HI value of flavored beverages would rise to 1.11, exceeding the safety threshold. Enterprise scale analysis showed that the exceedance rate of special purpose beverages in large enterprises reached 30.0%, while micro enterprises, accounting for a dominant market share (52.2%), constituted the main source of children s daily exposure to their products. Conclusions The overall health risk of perservatives in beverages sold near primary schools in Anshun City is controllable, but there is a noticeable risk of gradient. The risk of children’s exposure to preservatives through beverage consumption should not be ignored.

ObjectiveTo develop an assessment tool for apraxia of speech (AOS) of Chinese Putonghua speakers and test its reliability and validity. MethodsThe Chinese Apraxia of Speech Assessment and Diagnostic Tool (CAADT) was developed based on the Apraxia of Speech Rating Scale 3.5, combined with the linguistic characteristics of Chinese and clinical experience. The tool consistsed of eleven items across three sections: articulation, prosody and alternating motion rates. Six experts evaluated the content validity. From November, 2024 to May, 2025, 51 patients with post-stroke AOS (experimental group) and ten patients with post-stroke aphasia without AOS (control group) were recruited from Anhui Wannan Rehabilitation Hospital (the Fifth People's Hospital of Wuhu), and tested with CAADT. Reliability was assessed using Cronbach's α coefficient, Kendall's coefficient of concordance W and Pearson correlation coefficient. Validity was evaluated using the content validity index (CVI) and Spearman correlation coefficient. Discriminative effect was analyzed using the receiver operating characteristic (ROC) curve. ResultsThe Cronbach's α coefficients for the articulation and prosody sections and the total scale were all > 0.9, while it was 0.454 for the alternating motion rates. Inter-rater reliability was good (W ≥ 0.598, P < 0.001). Test-retest reliability showed high positive correlations for the three sections and the total score between the two assessments (r ≥ 0.84, P < 0.001). The scale-level CVI was 0.95, and the item-level CVI ≥ 0.83. The Spearman correlation coefficients among the sections ranged from 0.30 to 0.70. ROC analysis revealed an area under the curve of 0.953, with a cut-off value of 11, yielding a sensitivity of 0.92 and a specificity of 0.90. ConclusionCAADT demonstrates good reliability, validity and discriminative effect, which can be used for clinical assessment and auxiliary diagnosis of Chinese Putonghua speaking patients with post-stroke AOS.

Background Lead (Pb) is a highly toxic heavy metal that accumulates in the body, potentially leading to multi-systemic impairment. Compared with traditional statistical methods, machine learning techniques offer unique advantages, opening new avenues for occupational health risk assessment and the exploratory analysis of complex associations. Objective To examine the association between occupational lead exposure and multiple health indicators and to identify key risk factors for lead toxicity. Methods A cross-sectional study was conducted, integrating occupational hygiene investigation results from 16 lead-acid battery enterprises in Jiangsu Province with occupational health examination data from 1914 lead-exposed workers. Inter-group differences were analyzed using the χ² test or Fisher's exact test. Binary logistic regression and machine learning algorithms [CatBoost, Naive Bayes model (NBM), and random forest (RF)] were employed to evaluate the association between blood lead (PbB), urine lead (PbU), and health indicators including blood pressure (BP), red blood cell count (RBC), and alanine aminotransferase (ALT). Results The prevalence of abnormal PbB and PbU were 14.52% and 9.35%, respectively. The risks of abnormal BP, RBC, and ALT were significantly increased in the population with high lead levels (P<0.05). PbB abnormalities were closely associated with gender, environmental lead concentration, wearing masks, smoking, and alcohol consumption (P<0.05). Regarding occupational hazards, workers exposed to lead dust had a 1.98-fold risk of PbU abnormality compared to those exposed to lead fumes. The plate coating and acid leaching process posed the highest risk for both PbB (OR=8.81) and PbU (OR=5.46) abnormalities compared with assembly process. Furthermore, the risks of PbB and PbU abnormalities were significantly elevated among workers with abnormal BP, RBC or ALT (P<0.05). Among the models, CatBoost performed best in predicting RBC abnormality (accuracy: 95.8%; precision: 44.9%; F1 score: 0.952; AUC: 0.981). Feature importance analysis identified PbB and PbU as the core factors affecting abnormal RBC and ALT, while RBC and ALT abnormalities as key features for predicting the risk of PbB and PbU abnormalities. Conclusion By integrating traditional statistical methods with machine learning, this study reveals a complex bidirectional association between occupational lead exposure and multiple health indicators, and identifies gender, job category, and environmental Pb concentration as the key factors influencing PbB abnormalities. These findings provide a scientific foundation for the implementation of precision occupational health management models.

Background Lead (Pb) is a highly toxic heavy metal that accumulates in the body, potentially leading to multi-systemic impairment. Compared with traditional statistical methods, machine learning techniques offer unique advantages, opening new avenues for occupational health risk assessment and the exploratory analysis of complex associations. Objective To examine the association between occupational lead exposure and multiple health indicators and to identify key risk factors for lead toxicity. Methods A cross-sectional study was conducted, integrating occupational hygiene investigation results from 16 lead-acid battery enterprises in Jiangsu Province with occupational health examination data from 1914 lead-exposed workers. Inter-group differences were analyzed using the χ² test or Fisher's exact test. Binary logistic regression and machine learning algorithms [CatBoost, Naive Bayes model (NBM), and random forest (RF)] were employed to evaluate the association between blood lead (PbB), urine lead (PbU), and health indicators including blood pressure (BP), red blood cell count (RBC), and alanine aminotransferase (ALT). Results The prevalence of abnormal PbB and PbU were 14.52% and 9.35%, respectively. The risks of abnormal BP, RBC, and ALT were significantly increased in the population with high lead levels (P<0.05). PbB abnormalities were closely associated with gender, environmental lead concentration, wearing masks, smoking, and alcohol consumption (P<0.05). Regarding occupational hazards, workers exposed to lead dust had a 1.98-fold risk of PbU abnormality compared to those exposed to lead fumes. The plate coating and acid leaching process posed the highest risk for both PbB (OR=8.81) and PbU (OR=5.46) abnormalities compared with assembly process. Furthermore, the risks of PbB and PbU abnormalities were significantly elevated among workers with abnormal BP, RBC or ALT (P<0.05). Among the models, CatBoost performed best in predicting RBC abnormality (accuracy: 95.8%; precision: 44.9%; F1 score: 0.952; AUC: 0.981). Feature importance analysis identified PbB and PbU as the core factors affecting abnormal RBC and ALT, while RBC and ALT abnormalities as key features for predicting the risk of PbB and PbU abnormalities. Conclusion By integrating traditional statistical methods with machine learning, this study reveals a complex bidirectional association between occupational lead exposure and multiple health indicators, and identifies gender, job category, and environmental Pb concentration as the key factors influencing PbB abnormalities. These findings provide a scientific foundation for the implementation of precision occupational health management models.

[Objective] To assess the data characteristics of quality monitoring indicators for red blood cell (RBC) preparations, so as to provide reference for continuous improvement of blood quality. [Methods] The quality inspection data of 6 types of RBC preparations from Chongqing blood center from 2019 to 2023 were summarized. For the same indicators, the numerical range of quality indicators was monitored by comparing different types of preparations with the national standard GB18469. The loss and/or damage to RBCs caused by different preparation process were compared, and the impact of different preparation processes on the quality of RBCs was discussed. [Results] The appearance and sterility test compliance rates of the six types of RBC preparations were both 100%, while the compliance rates of other items were all ≥75%. The compliance rate of hematocrit for suspended RBCs was the lowest at 75%, with a median of 0.52, which was close to the lower limit of GB18469, while the medians of hematocrit for the other types were all at the midline level of GB18469. The Hb content for different types of RBCs was significantly higher than the corresponding requirements of GB18469 (P<0.05). The hemolysis rate at the end of storage for different types of RBCs was significantly lower than the requirements of GB18469 (P<0.05). The 1 U leukoreduction process resulted in a hemoglobin content loss of about 5% and had a significant impact on the hemolysis rate at the end of storage (P<0.05). The washing process resulted in a hemoglobin content loss of <3% and had no significant impact on the hemolysis rate at the end of storage (P>0.05). The concentration process resulted in a hemoglobin content loss of <3% and had a significant impact on the hemolysis rate at the end of storage (P<0.05). [Conclusion] The impact of different processes on RBC preparations is within a controllable range and meets the requirements of GB18469. The quality monitoring data can provide a reference for clinical blood selection, effectiveness evaluation and revision of related standards.

Objective:To evaluate the clinical efficacy of methylation sensitive-high resolution melting curve (MS-HRM) detection of IFN-induced protein 44-like (IFI44L) gene methylation in the diagnosis of systemic lupus erythematosus (SLE), as well as the relationship between IFI44L gene markers and the early onset of SLE.Methods:From February 2020 to September 2022, the MS-HRM was used to detect the methylation level of the IFI44L gene in peripheral blood mononuclear cells of 602 SLE patients and 524 other autoimmune disease patients (excluding SLE) from Beijing Peking Union Medical College Hospital, Guangdong Provincial People′s Hospital, and Shenzhen People′s Hospital, totaling 1 126 patients. Compared with the 2012 SLICC criteria, the suspected cases were followed up for 6 months until the onset and clinical diagnosis of SLE were confirmed. The measurement data of normal distribution were expressed as mean±SD, and the consistency analysis was performed using the Kappa consistency test. The clinical diagnostic efficacy indicators were calculated using the receiver operating characteristic (ROC) curve. Results:RR (95% CI) of early suspected cases was 17.06 (9.43, 30.82). The results of IFI44L gene methylation level were in good agreement with the 2012 SLICC criteria, and the sensitivity, specificity and total coincidence rate were 90.53%, 92.56% and 91.47%, respectively. The Kappa value (95% CI) was 0.829(0.796, 0.862) ( P<0.001). The diagnostic efficiency of IFI44L gene methylation level ( Kappa value 0.817) was superior to anti-nuclear antibody, anti-SM antibody and anti-dsDNA antibody ( Kappa value 0.418, 0.216 and 0.440, respectively). The Kappa values (95% CI) of methylation between MS-HRM and pyrosequencing was 0.861(0.806, 0.916), P<0.001. Conclusion:The hypomethylation of IFI44L gene methylation level detected by MS-HRM is closely related to the occurrence and development of SLE, and its diagnostic performance is better than that of three autoantibodies in SLE diagnosis, which can be used for the early diagnosis of SLE.

The SEPN1 gene encodes selenoprotein N,and mutations in this gene can cause SEPN1-re-lated myopathy(SEPN1-RM).SEPN1-RM is an extremely rare and complex congenital myopathy with an in-sidious onset and slow progression,often leading to multi-system involvement.The main clinical manifestations include axial and proximal muscle weakness,early respiratory dysfunction,and spinal deformities.This article reports the diagnosis and treatment conditions for a pediatric patient carrying novel mutation in SEPN1 gene who underwent spinal orthopedic fusion surgery.After detailed multidisciplinary evaluation,adequate preoperative preparation,and meticulous perioperative management,the patient successfully underwent high-risk spinal or-thopedic surgery and recovered well.Based on the patient's diagnosis,perioperative management,and follow-up,combined with the latest domestic and international literature,this article systematically discusses the diag-nostic and therapeutic characteristics of this rare disease.The aim is to enhance clinicians'understanding of such diseases and to provide evidence-based support and reference for perioperative comprehensive management for such diseases.

Objective:To describe the body mass index (BMI) level and long-term trends of Chinese older adults aged 65 and above.Methods:Older adults aged 65 and above from six waves (2002-2018) of the China Longitudinal Healthy Longevity Survey were selected as the study population. Multiple cross-sectional design with six survey waves conducted in 2002, 2005, 2008, 2011, 2014, and 2018 was adopted, enrolling 15 647, 15 358, 15 622, 9 166, 6 302, and 12 417 participants, respectively. Additionally, a total of 13, 755 participants were included in the cohort study design. Relevant information was collected through questionnaires and physical examinations. The χ2 trend test was used to compare the changes in the rates of underweight and overweight/obesity over the years, and the linear mixed-e?ects model (LMM) was used to fit trajectory curves of BMI changes with advancing age in older adults. Results:The baseline ages of the participants included in 2002, 2005, 2008, 2011, 2014, and 2018 were (85.16±11.26), (84.23±11.83), (84.99±12.16), (81.10±11.86), (78.89±11.30), and (83.08±12.42) years, respectively, with a relatively high proportion of females and rural residents. In the cohort study, the 13 755 participants had a median ( Q1, Q3) follow-up time of 6.5 (5.2, 10.0) years, with a cumulative follow-up duration of 109 041 person-years. In each wave, males had higher BMI than females, urban residents had higher BMI than rural residents, and BMI gradually decreased with increasing age (all P<0.001). The mean BMI of older adults in China increased from (19.37±3.80) kg/m2 in 2002 to (22.04±4.01) kg/m2 in 2018 ( P<0.001). Across all survey years, the prevalence of underweight was consistently higher in women than in men and in rural areas than in urban areas, with an upward trend as age increased (all P<0.001). In 2018, the underweight rates in the 65-79, 80-89, 90-99, and ≥100-year-old age groups were 8.0%, 16.7%, 26.2%, and 35.5%, respectively. Meanwhile, the prevalence of overweight/obesity was higher in men than in women and in urban areas than in rural areas, showing a declining trend with advancing age (all P<0.001). The prevalence of underweight among the older adults decreased significantly from 45.2% in 2002 to 18.9% in 2018 ( P<0.001), while the prevalence of overweight/obesity increased from 11.0% in 1998 to 29.6% in 2018 ( P<0.001). The trajectory curves fitted by the LMM model showed that individuals born in later decades had higher BMI levels at the same age compared to earlier cohorts. Conclusion:From 2002 to 2018, the BMI level among Chinese older adults showed an increasing trend. The prevalence of underweight showed a declining trend, while the rates of obesity and overweight increased. However, the underweight rate remained notably high among the oldest old.