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

Liumotang comes from the Yuan dynasty's Effective Prescription Handed Down for Generations of Physicians. It is composed of six medicinal materials： Arecae Semen， Aquilariae Lignum Resinatum， Aucklandiae Radix， Linderae Radix， Rhei Radix et Rhizoma， and Aurantii Fructus. It is a classical formula for treating abdominal pain due to Qi stagnation and constipation accompanied by heat. This study systematically collated the records of Liumotang in ancient medical books and modern clinical literature and conducted in-depth analysis and textual research on its formula source， main diseases， composition， dosage， medical books， container capacity， processing， preparation method， usage， drug basis， formula meaning， and other key information， so as to provide a powerful reference for the development and clinical application of compound preparations of the classical formula Liumotang. The results show that Liumotang was first seen in Effective Prescription Handed Down for Generations of Physicians， and many medical books of the past dynasties have imitated this. In terms of drug basis， the dried and mature seeds of the palm plant Areca catechu， resin-containing wood of the Daphneaceae plant Aquilaria sinensis， the dried roots of the Asteraceae plant woody Aucklandia lappa， the dried tuber root of the Lauraceae plant Lindera aggregata， the dried roots and rhizomes of the knotweed plant， R. palmatum， R.tangutikum， and R. officinale， and the dried and unripe fruits of the citrus genus C. aurantium and its cultivated varieties from the family Rutaceae were selected. In terms of dosage， through the textual research on bowls in the Ming and Qing dynasties， combined with the conversion of medicines and bowl capacity in the Qing dynasty， it was estimated that the dosage of each drug in the Yuan dynasty was 10.86 g. In the Ming and Qing dynasties， the dosage of drugs was mostly equal， but the dosage of drugs was somewhat different. In terms of processing， preparation method， and usage， in the medical books of the past dynasties， the processing of drugs has slightly changed， but raw drugs are used in all preparations. The preparation method and usage did not change much during the Yuan， Ming， and Qing dynasties， except for certain differences in dosage. In terms of syndrome， Liumotang was first used to treat abdominal pain due to Qi stagnation and constipation accompanied by heat. Medical books of the past dynasties often omit the symptoms of heat. In modern clinical practice， Liumotang is mainly used in the digestive system and urinary system diseases and is mostly used to treat constipation-predominant irritable bowel syndrome， biliary reflux gastritis， functional constipation， slow transit constipation， and other diseases， with no adverse reactions found yet. The above results provide a reliable scientific basis for the development and clinical treatment of Liumotang compound preparations.

Objective To develop and compare prediction models for hyperuricemia(HUA)in perim-enopausal and postmenopausal women using Lasso regression,random forest,and multivariate logistic regres-sion.Methods A multi-stage,stratified cluster sampling method was used to select 12 790 subjects from An-ning City,Yunnan Province.Prediction models for HUA were constructed using Lasso regression,random for-est,and multivariate logistic regression.The efficacy of the model was evaluated by accuracy,sensitivity,speci-ficity,F1 score,and area under the curve(AUC).Results LASSO regression analysis screened 19 variables for inclusion in the model,such as age,waist circumference,diastolic blood pressure,BMI,HDL-C,fasting blood glucose(FBG),etc.The accuracy rate was 0.701,the sensitivity was 0.703,the specificity was 0.680,and the F1 score was 0.806.The AUC(95%CI)was 0.770(0.748-0.792).The results of the random forest model show that variables such as creatinine,triglyceride-glucose index(TyG),TG,BMI,TC,Urea nitrogen(Urea),and ALT were relatively important,with an accuracy rate of 0.663,a sensitivity of 0.653,a specificity of 0.738,and an F1 score of 0.774.The AUC(95%CI)was 0.763(0.741-0.785).Multivariate logistic re-gression results showed that 11 variables including creatinine(Cr),TyG,BMI,Urea,and ALT were included in the model,with an accuracy rate of 0.705,a sensitivity of 0.707,a specificity of 0.686,an F1 score of 0.809,and an AUC(95%CI)of 0.771(0.749-0.793).Conclusion The overall performance of LASSO re-gression and multivariate logistic regression models is better.The random forest model has a strong variable screening ability and high specificity,and can be used as a supplement to provide more accurate predictions.

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 predict and analyze the"properties-efficacy"of foreign medicinal resource Moringa oleifera leaves by taking"Xiang"based on plant phylogenetic relationships and component structural characteristics.Methods The properties of Moringa oleifera were determined by screening plants with its genetic relationship.Network pharmacology was used to study the biological network characteristics of Moringa oleifera leaves and related Chinese materia medica,and the"properties-efficacy"of Moringa oleifera leaves was studied based on the"xiang"of medicinal plants.Using"the relationship chart between the efficacy of Chinese materia medica and 12 types of chemical components",the possible efficacy and distribution of medicinal properties of Moringa oleifera leaves were predicted,and a study on the"properties-efficacy"characteristics of Moringa oleifera leaves was conducted based on the structural features of the components.Results Moringaceae and Caricaceae had a genetic relationship in plant classification;Moringa oleifera leaves,Carica papaya and Carica papaya leaves had a relatively high number of common targets,common clinical phenotypes and signaling pathways.The large proportion of coincidence showed that Moringa oleifera leaves might have similar functional performance and mechanism to Carica papaya and Carica papaya leaves;Moringa oleifera leaves contain flavonoids,tannins,monophenols,which were related to the efficacy of Chinese materia medica on tonifying qi,dispersing wind heat,cooling blood and regulating qi.Clustering analysis method was used to get the corresponding"properties-efficacy"relationship,and the results indicated that Moringa oleifera leaves were cool in property and sweet in taste,which belonged to lung meridian and had the efficacy of dispersing wind heat.Conclusion It is feasible to predict and analyze the"properties-efficacy"of foreign medicinal resources by taking"xiang".

Objective To predict and analyze the"properties-efficacy"of foreign medicinal resource Moringa oleifera leaves by taking"Xiang"based on plant phylogenetic relationships and component structural characteristics.Methods The properties of Moringa oleifera were determined by screening plants with its genetic relationship.Network pharmacology was used to study the biological network characteristics of Moringa oleifera leaves and related Chinese materia medica,and the"properties-efficacy"of Moringa oleifera leaves was studied based on the"xiang"of medicinal plants.Using"the relationship chart between the efficacy of Chinese materia medica and 12 types of chemical components",the possible efficacy and distribution of medicinal properties of Moringa oleifera leaves were predicted,and a study on the"properties-efficacy"characteristics of Moringa oleifera leaves was conducted based on the structural features of the components.Results Moringaceae and Caricaceae had a genetic relationship in plant classification;Moringa oleifera leaves,Carica papaya and Carica papaya leaves had a relatively high number of common targets,common clinical phenotypes and signaling pathways.The large proportion of coincidence showed that Moringa oleifera leaves might have similar functional performance and mechanism to Carica papaya and Carica papaya leaves;Moringa oleifera leaves contain flavonoids,tannins,monophenols,which were related to the efficacy of Chinese materia medica on tonifying qi,dispersing wind heat,cooling blood and regulating qi.Clustering analysis method was used to get the corresponding"properties-efficacy"relationship,and the results indicated that Moringa oleifera leaves were cool in property and sweet in taste,which belonged to lung meridian and had the efficacy of dispersing wind heat.Conclusion It is feasible to predict and analyze the"properties-efficacy"of foreign medicinal resources by taking"xiang".