Background Per- and poly-fluoroalkyl substances (PFAS) can influence gestational diabetes mellitus (GDM); however, current studies on their association are limited and have yielded inconsistent findings. Objective To investigate the association between maternal exposure to PFAS, as measured by urinary concentrations in early pregnancy, and the risk of developing GDM. Methods Based on the Wuhu Birth Cohort in Anhui Province conducted between 2020 and 2023, this study included 1910 pregnant women. Urine samples were collected during the first trimester, and a 75 g oral glucose tolerance test (OGTT) was completed at 24–28 gestational weeks. The concentrations of six PFAS in urine were measured using ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). Participants were categorized into low, medium, and high exposure groups according to tertiles of individual PFAS concentrations. Logistic regression analysis was employed to assess the potential impact of early-pregnancy PFAS exposure levels on the risk of GDM, with stratified analyses by maternal age and fetal sex. A generalized weighted quantile sum regression (gWQS) model was applied to evaluate the relative weight distribution of the six PFAS in their mixture effect. Results The logistic regression results revealed that both medium exposure to perfluorohexane sulfonate (PFHxS) (OR=1.475, 95%CI: 1.040, 2.093) and high exposure to perfluorononanoic acid (PFNA) (OR=1.430, 95%CI: 1.013, 2.018) were positively associated with diagnosed GDM. This association was more pronounced among women older than 28 years. Among pregnant women carrying male fetuses, high-level exposures to per fluorohexanoic acid (PFHxA) (OR=1.708, 95%CI: 1.006, 2.899) and PFHxS (OR=2.116, 95%CI: 1.247, 3.584) showed positive associations with diagnosed GDM. In contrast, among those carrying female fetuses, moderate perfluorooctanesulfonic acid (PFOS) exposure was associated with a lower risk of GDM (OR=0.542, 95%CI: 0.311, 0.946). The gWQS results demonstrated that PFOS (0.48) and perfluorobutane sulfonate (PFBS) (0.34) contributed the most to the mixture effect. Conclusion Early-pregnancy exposure to PFAS (particularly PFHxS and PFNA) may be an etiological factor for GDM, with maternal age and fetal sex potentially acting as effect modifiers in this association.

Objective To investigate the expression profile, prognostic value, gene co-expression network, and immunomodulatory role of BRF1 in a pan-cancer context, and to explore its biological functions and molecular regulatory mechanisms in esophageal squamous cell carcinoma (ESCC). Methods The pan-cancer dataset from The Cancer Genome Atlas (TCGA) was utilized to analyze the differential expression of BRF1 in tumor versus normal tissues, its association with patient survival, pathway enrichment for co-expressed genes, and immune features (including immune checkpoints, cytokines, and immune cell infiltration). The expression profile of BRF1 in ESCC was validated using the Gene Expression Omnibus (GEO) database. In vitro, BRF1 was knocked down in ESCC cells using siRNA. Cell proliferation and migration were assessed by MTT and Transwell assays, respectively. The expression levels of proliferation- and migration-related proteins were detected by Western blotting. The correlation between BRF1 and ferroptosis was analyzed using TCGA data. Results BRF1 was significantly upregulated in over 20 types of cancer, and its high expression was associated with poor prognosis in patients with adrenocortical carcinoma and prostate adenocarcinoma. BRF1 was found to positively regulate the T-cell-mediated cell death pathway in esophageal adenocarcinoma and was associated with the circadian rhythm regulation pathway in pancreatic adenocarcinoma. The correlation of BRF1 with immune checkpoints, cytokine networks, and immune cell infiltration was found to be cancer type-specific. In vitro experiments demonstrated that knocking down BRF1 significantly inhibited the proliferation of ESCC cells, accompanied by the downregulation of the proliferation marker PCNA. Cell migration was also significantly impaired, with decreased expression of Vimentin and MMPs and increased expression of E-cadherin. Furthermore, the expression of BRF1 was positively correlated with that of ferroptosis-antagonizing genes, such as GPX4, HSPA5, and SLC7A11. Conclusion BRF1 plays complex roles in pan-cancer, participating in the regulation of tumorigenesis, progression, and immune infiltration. BRF1 promotes the proliferation and migration of ESCC cells, a mechanism potentially associated with the regulation of ferroptosis resistance. These findings suggest that BRF1 could be a potential therapeutic target for ESCC.

OBJECTIVE: To investigate the current status of clinical genetics specialization development and the diagnostic and therapeutic capabilities for hereditary diseases across medical institutions in Shanghai, and to assess the necessity and feasibility of establishing training bases for clinical genetics specialists. METHODS: By employing a cross-sectional survey design, the Clinical Genetics Committee of Shanghai Medical Association has conducted questionnaire surveys from March to April 2025 across 54 healthcare institutions in Shanghai (including 33 tertiary hospitals and 21 secondary hospitals). The survey involved administrative departments and medical personnel from 15 clinical specialties. The survey has covered current genetic disease diagnosis and treatment practices, relevant and specialised disease types, genetic department establishment, testing capabilities, personnel teams, and training requirements. RESULTS: The results revealed that 78.0% of clinical departments surveyed had treated patients with hereditary disorders. Shanghai possesses diagnostic and therapeutic expertise for over 95% of hereditary diseases listed in its rare disease catalogue, reflecting both the practical clinical demand for such conditions and the city's overall diagnostic and therapeutic strengths in this field. Nevertheless, significant disparities exist in the development of genetics departments across different tiers of healthcare institutions. Resources for genetic testing capabilities (including molecular, cellular, and biochemical testing) are also unevenly distributed across different tiers of hospitals. The survey further revealed that only 26.0% of departments believe that their current physician structure fully meets the diagnostic and treatment demands. Over 90% of departments consider standard training for clinical genetic specialists necessary, with 74.0% expressing willingness to participate in establishing training bases. Based on above findings and thorough deliberation, the Clinical Genetics Committee of the Shanghai Medical Association proposes advancing specialist training and discipline development through establishing a standard training system. The committee has drafted a three-year training protocol featuring a "joint training"-centered model, recommending a pilot-first, dynamically optimized strategy for steadily advancing training base development. CONCLUSION Shanghai faces substantial demand for genetic disease diagnosis and treatment, yet exhibits shortcomings in clinical genetics specialization development, resource allocation, and talent pipeline cultivation. To establish a standard training system holds significant practical importance and is underpinned by a broad demand.
Humans ; China ; Surveys and Questionnaires ; Genetic Diseases, Inborn/genetics* ; Cross-Sectional Studies ; Genetics, Medical/education* ; Genetic Testing

Objective:To compare the safety and accuracy between robotic-assisted screw placement and free-hand screw placement in adolescent idiopathic scoliosis (AIS) surgery.Methods:The clinical data of 69 AIS patients underwent posterior spinal scoliosis orthomorphia from December 2021 to October 2023 in Beijing Chaoyang Hospital, Capital Medical University were retrospectively analyzed. Among them, 37 patients underwent robot-assisted screw placement (robot group), and 32 patients underwent fluoroscopy-assisted free-hand screw placement (free-hand group). The basic information of surgery (operation time, intraoperative blood loss, intraoperative radiation exposure time, postoperative hospital stay and postoperative complications), screw placement indexes (single screw placement time and accuracy of screw placement) and imaging indexes (main curve correction rate, kyphotic change and lumbar lordosis change) were compared between two groups. The ln curve regression analysis method was used to evaluate the learning curve of robot-assisted screw placement therapy for AIS.Results:A total of 716 screws were placed in 32 patients of free-hand group, and 766 screws in 37 patients of robot group. The operation time, intraoperative radiation exposure time, single screw placement time and accuracy of screw placement in robot group were significantly higher than those in free-hand group: (272.30 ± 67.98) min vs. (221.66 ± 67.32) min, (149.81 ± 57.21) s vs. (116.03 ± 63.10) s, (497.97 ± 51.74) s vs. (381.47 ± 46.58) s and 97.91% (750/766) vs. 91.48% (655/716), and there were statistical differences ( P<0.01 or <0.05); there were no statistical differences in intraoperative blood loss, postoperative hospital stay, incidence of neurological complications, incidence of incision infection and number of screw between two groups ( P>0.05). There were no statistical differences in the main curve correction rate, kyphotic change and lumbar lordosis change between two groups ( P>0.05). When the fitting degree was the highest ( R2 = 0.729, P<0.01), the fitting equation was y = - 50.93ln x + 634.7 ( x was the number of operation, and y was the single screw placement time), and the number of vertices was 12 cases. The robot group was divided into three subgroups according to the order of surgery, subgroup A consisted of 12 patients who underwent the surgery from first to twelfth, subgroup B consisted of 12 patients who underwent the surgery from thirteenth to twenty-fourth, and subgroup C consisted of 13 patients who underwent the surgery from twenty-fifth to thirty-seventh. Among them, the single screw placement time in subgroup A was significantly longer than that in subgroup B and subgroup C: (560.92 ± 35.03) s vs. (465.75 ± 21.20) and (469.62 ± 24.94) s, and there was statistical difference ( P<0.05); there was no statistical difference between subgroup B and subgroup C ( P>0.05). Conclusions:Robot-assisted screw placement for AIS can effectively improve the accuracy of screw placement without affecting deformity correction, but it can increase screw placement time, operation time and radiation exposure time. A smooth learning curve is obtained after performing 12 procedures.

BACKGROUND:Diffuse idiopathic skeletal hyperostosis is a systemic,non-inflammatory disease characterized by calcification and ossification of ligaments,tendons,and their attachments,predominantly affecting men over the age of 50.Studies have shown a higher prevalence of diffuse idiopathic skeletal hyperostosis among obese individuals;however,the causal relationship between the two remains unclear.OBJECTIVE:To investigate the causal relationship between obesity and diffuse idiopathic skeletal hyperostosis using Mendelian randomization analysis.METHODS:The study utilized single nucleotide polymorphisms from the Genome Wide Association Study database as instrumental variables,incorporating data related to obesity and diffuse idiopathic skeletal hyperostosis.A bidirectional two-sample Mendelian randomization analysis was performed to assess the causal relationship between obesity and diffuse idiopathic skeletal hyperostosis,with evaluations for pleiotropy,heterogeneity,and sensitivity.RESULTS AND CONCLUSION:The Mendelian randomization analysis revealed a significant positive causal relationship between obesity and diffuse idiopathic skeletal hyperostosis.The inverse-variance weighted method indicated that"obesity"(odds ratio[OR]=1.111,95%confidence interval[CI]:1.068-1.156,P=1.598×10-7),"obesity due to excess calories"(OR=1.093,95%CI:1.042-1.146,P=0.000),and"obesity,other/unspecified"(OR=1.109,95%CI:1.069-1.152,P=4.908×10-8)were significantly associated with diffuse idiopathic skeletal hyperostosis.Conversely,the reverse Mendelian randomization analysis did not find a causal relationship between diffuse idiopathic skeletal hyperostosis and obesity.The robustness of the Mendelian randomization analysis results was confirmed by pleiotropy,heterogeneity and sensitivity tests,indicating that while obesity significantly increases the risk of diffuse idiopathic skeletal hyperostosis,but diffuse idiopathic skeletal hyperostosis does not pose a risk factor for obesity.

Objective:To compare the safety and accuracy between robotic-assisted screw placement and free-hand screw placement in adolescent idiopathic scoliosis (AIS) surgery.Methods:The clinical data of 69 AIS patients underwent posterior spinal scoliosis orthomorphia from December 2021 to October 2023 in Beijing Chaoyang Hospital, Capital Medical University were retrospectively analyzed. Among them, 37 patients underwent robot-assisted screw placement (robot group), and 32 patients underwent fluoroscopy-assisted free-hand screw placement (free-hand group). The basic information of surgery (operation time, intraoperative blood loss, intraoperative radiation exposure time, postoperative hospital stay and postoperative complications), screw placement indexes (single screw placement time and accuracy of screw placement) and imaging indexes (main curve correction rate, kyphotic change and lumbar lordosis change) were compared between two groups. The ln curve regression analysis method was used to evaluate the learning curve of robot-assisted screw placement therapy for AIS.Results:A total of 716 screws were placed in 32 patients of free-hand group, and 766 screws in 37 patients of robot group. The operation time, intraoperative radiation exposure time, single screw placement time and accuracy of screw placement in robot group were significantly higher than those in free-hand group: (272.30 ± 67.98) min vs. (221.66 ± 67.32) min, (149.81 ± 57.21) s vs. (116.03 ± 63.10) s, (497.97 ± 51.74) s vs. (381.47 ± 46.58) s and 97.91% (750/766) vs. 91.48% (655/716), and there were statistical differences ( P<0.01 or <0.05); there were no statistical differences in intraoperative blood loss, postoperative hospital stay, incidence of neurological complications, incidence of incision infection and number of screw between two groups ( P>0.05). There were no statistical differences in the main curve correction rate, kyphotic change and lumbar lordosis change between two groups ( P>0.05). When the fitting degree was the highest ( R2 = 0.729, P<0.01), the fitting equation was y = - 50.93ln x + 634.7 ( x was the number of operation, and y was the single screw placement time), and the number of vertices was 12 cases. The robot group was divided into three subgroups according to the order of surgery, subgroup A consisted of 12 patients who underwent the surgery from first to twelfth, subgroup B consisted of 12 patients who underwent the surgery from thirteenth to twenty-fourth, and subgroup C consisted of 13 patients who underwent the surgery from twenty-fifth to thirty-seventh. Among them, the single screw placement time in subgroup A was significantly longer than that in subgroup B and subgroup C: (560.92 ± 35.03) s vs. (465.75 ± 21.20) and (469.62 ± 24.94) s, and there was statistical difference ( P<0.05); there was no statistical difference between subgroup B and subgroup C ( P>0.05). Conclusions:Robot-assisted screw placement for AIS can effectively improve the accuracy of screw placement without affecting deformity correction, but it can increase screw placement time, operation time and radiation exposure time. A smooth learning curve is obtained after performing 12 procedures.

BACKGROUND:Diffuse idiopathic skeletal hyperostosis is a systemic,non-inflammatory disease characterized by calcification and ossification of ligaments,tendons,and their attachments,predominantly affecting men over the age of 50.Studies have shown a higher prevalence of diffuse idiopathic skeletal hyperostosis among obese individuals;however,the causal relationship between the two remains unclear.OBJECTIVE:To investigate the causal relationship between obesity and diffuse idiopathic skeletal hyperostosis using Mendelian randomization analysis.METHODS:The study utilized single nucleotide polymorphisms from the Genome Wide Association Study database as instrumental variables,incorporating data related to obesity and diffuse idiopathic skeletal hyperostosis.A bidirectional two-sample Mendelian randomization analysis was performed to assess the causal relationship between obesity and diffuse idiopathic skeletal hyperostosis,with evaluations for pleiotropy,heterogeneity,and sensitivity.RESULTS AND CONCLUSION:The Mendelian randomization analysis revealed a significant positive causal relationship between obesity and diffuse idiopathic skeletal hyperostosis.The inverse-variance weighted method indicated that"obesity"(odds ratio[OR]=1.111,95%confidence interval[CI]:1.068-1.156,P=1.598×10-7),"obesity due to excess calories"(OR=1.093,95%CI:1.042-1.146,P=0.000),and"obesity,other/unspecified"(OR=1.109,95%CI:1.069-1.152,P=4.908×10-8)were significantly associated with diffuse idiopathic skeletal hyperostosis.Conversely,the reverse Mendelian randomization analysis did not find a causal relationship between diffuse idiopathic skeletal hyperostosis and obesity.The robustness of the Mendelian randomization analysis results was confirmed by pleiotropy,heterogeneity and sensitivity tests,indicating that while obesity significantly increases the risk of diffuse idiopathic skeletal hyperostosis,but diffuse idiopathic skeletal hyperostosis does not pose a risk factor for obesity.

Tuberculosis is a zoonotic disease posing a substantial public health threat.Immunological diagnosis and vaccine im-munization are both necessary to control tuberculosis prevalence.However,the identical antigenic components in diagnostic reagents and vaccines hinder the use of animal vaccines and limit the specificity of clinical diagnosis in humans.Differentiating infected from vaccinated animals can overcome these problems.This article reviews the progress in differential diagnosis research from three as-pects:the diagnostic effects of antigens,methods for discovering new antigens,and screening of new host immune markers,to provide a theoretical basis for future research.

Objective:To investigate the stability and relationship between emotional intelligence and anxiety symptom of newly imprisoned male prisoners.Methods:A total of 143 newly imprisoned criminals were selected and used Emotional Intelligence Scale(WLEIS)and Self-rating Anxiety Scale(SAS)to complete two tests(T1 and T2)at an interval of 1 year.Results:The T1 WLEIS scores were positively correlated with the T2 WLEIS scores(r=0.38,P＜0.01).The T1 SAS scores were positively correlated with the T2 SAS scores(r=0.48,P＜0.01).At T1 and T2,the WLEIS scores were both negatively correlated with the SAS scores(r=-0.47,-0.48;Ps＜0.01).The T2 WLEIS scores were lower than the T1 WLEIS scores,and the T2 SAS scores were higher than the T1 SAS scores.Cross-lag analysis showed that the T1 SAS scores negatively predicted the T2 WLEIS scores(β=-0.28,P＜0.01).Conclusion:It suggests that the level of emotional intelligence and anxiety symptoms of male prisoners may change with the increase of prison time.The level of emotional intelligence one year after imprison-ment is negatively correlated with the level of anxiety symptoms at the beginning of imprisonment.

Tuberculosis is a zoonotic disease posing a substantial public health threat.Immunological diagnosis and vaccine im-munization are both necessary to control tuberculosis prevalence.However,the identical antigenic components in diagnostic reagents and vaccines hinder the use of animal vaccines and limit the specificity of clinical diagnosis in humans.Differentiating infected from vaccinated animals can overcome these problems.This article reviews the progress in differential diagnosis research from three as-pects:the diagnostic effects of antigens,methods for discovering new antigens,and screening of new host immune markers,to provide a theoretical basis for future research.