1.Circulating inflammatory proteins and myocardial hypertrophy:large sample analysis of European populations from GWAS Catalog and FinnGen databases
Yu DING ; Jingwen CHEN ; Xiuyan CHEN ; Huimin SHI ; Yudie YANG ; Meiqi ZHOU ; Shuai CUI
Chinese Journal of Tissue Engineering Research 2026;30(4):1047-1057
BACKGROUND:Myocardial hypertrophy often leads to severe cardiovascular diseases and is difficult to diagnose due to its early stages being hard to detect.Circulating inflammatory proteins have been found to be significantly associated with cardiovascular diseases,yet the specific mechanisms linking them to myocardial hypertrophy remain unclear.OBJECTIVE:To investigate the relationship between circulating proteins and myocardial hypertrophy using multiple Mendelian randomization approaches.METHODS:Utilizing data from 91 circulating inflammatory proteins in the GWAS Catalog database and the latest myocardial hypertrophy data from the R11 FinnGen database,we employed bidirectional two-sample Mendelian randomization,multivariate Mendelian randomization,and Genome-Wide Association Studies co-localization to investigate the causal relationship between circulating inflammatory proteins and myocardial hypertrophy.The accuracy of the results was verified through sensitivity tests including MR-PRESSO,Cochran's Q test,MR-Egger intercept assessment,leave-one-out analysis,and funnel plot analysis.RESULTS AND CONCLUSION:In the results of two-sample Mendelian randomization,the primary method used for evaluation was the Inverse Variance Weighting(IVW)approach.It was found that the level of T-cell surface glycoprotein CD6 isoform(IVW:P=0.046,OR=0.74,95%Cl:0.66-1.00),level of slit chemokine(IVW:P=2.1×10-2,OR=0.74,95%CI:0.556-0.95),level of Delta and Notch-like epidermal growth factor-related receptor(IVW:P=3.7×10-4,OR=0.66,95%CI:0.49-0.87),level of interleukin-2(IVW:P=3.8×103,OR=0.667,95%CI:0.50-0.88),and sulfotransferase 1A1(IVW:P=1.42×102,OR=0.80,95%CI:0.67-0.96)had a unidirectional causal effect on cardiac hypertrophy.(2)Among the findings in multivariate Mendelian randomization,the levels of the CD6 isoform of T-cell surface glycoprotein(IVW:P=1.39×102,OR=0.81,95%CI:0.69-0.96)and the levels of Delta and Notch-like epidermal growth factor-related receptor(IVW:P=3.7×10-2,OR=0.73,95%CI:0.55-0.98)were positive,indicating that the results remained significant after excluding the effects of other circulating inflammatory proteins that had an impact on myocardial hypertrophy.(3)In colocalization,T-cell surface glycoprotein CD6 isoform levels had H3+H4=0.96,with the most significant single nucleotide polymorphism being rs59570070,suggesting an intrinsic link between T-cell surface glycoprotein CD6 isoform levels and myocardial hypertrophy.(4)Sensitivity results showed no abnormalities,indicating no heterogeneity or pleiotropic effects influencing the results.(5)These results verified that T cell surface glycoprotein CD6 isoforms,Slit chemokine,Delta and Notch-like epidermal growth factor-related receptors,interleukin-2,and sulfotransferase 1A1 had a unidirectional causal effect on myocardial hypertrophy.T cell surface glycoprotein CD6 isoforms and Delta and Notch-like epidermal growth factor-related receptors had the deepest impact,suggesting that there may be related pathways between T cell surface glycoprotein CD6 isoforms and myocardial hypertrophy.Mendelian randomization studies require large amounts of clinical data and therefore often use European samples from international databases for analysis.Since this analytical method has significant advantages in causal inference,precision medicine,and cross-population validation,its research results still hold great significance for the medical development in China.As Mendelian randomization research deepens,it also promotes the collection and analysis of clinical data in China to some extent.In the future,we can further analyze key protein mechanisms,combine multiomics and clinical validation,develop an inflammatory marker monitoring system and novel anti-inflammatory therapies,thereby promoting the prevention and control of cardiovascular diseases and the development of personalized medicine.
2.Circulating inflammatory proteins and myocardial hypertrophy:large sample analysis of European populations from GWAS Catalog and FinnGen databases
Yu DING ; Jingwen CHEN ; Xiuyan CHEN ; Huimin SHI ; Yudie YANG ; Meiqi ZHOU ; Shuai CUI
Chinese Journal of Tissue Engineering Research 2026;30(4):1047-1057
BACKGROUND:Myocardial hypertrophy often leads to severe cardiovascular diseases and is difficult to diagnose due to its early stages being hard to detect.Circulating inflammatory proteins have been found to be significantly associated with cardiovascular diseases,yet the specific mechanisms linking them to myocardial hypertrophy remain unclear.OBJECTIVE:To investigate the relationship between circulating proteins and myocardial hypertrophy using multiple Mendelian randomization approaches.METHODS:Utilizing data from 91 circulating inflammatory proteins in the GWAS Catalog database and the latest myocardial hypertrophy data from the R11 FinnGen database,we employed bidirectional two-sample Mendelian randomization,multivariate Mendelian randomization,and Genome-Wide Association Studies co-localization to investigate the causal relationship between circulating inflammatory proteins and myocardial hypertrophy.The accuracy of the results was verified through sensitivity tests including MR-PRESSO,Cochran's Q test,MR-Egger intercept assessment,leave-one-out analysis,and funnel plot analysis.RESULTS AND CONCLUSION:In the results of two-sample Mendelian randomization,the primary method used for evaluation was the Inverse Variance Weighting(IVW)approach.It was found that the level of T-cell surface glycoprotein CD6 isoform(IVW:P=0.046,OR=0.74,95%Cl:0.66-1.00),level of slit chemokine(IVW:P=2.1×10-2,OR=0.74,95%CI:0.556-0.95),level of Delta and Notch-like epidermal growth factor-related receptor(IVW:P=3.7×10-4,OR=0.66,95%CI:0.49-0.87),level of interleukin-2(IVW:P=3.8×103,OR=0.667,95%CI:0.50-0.88),and sulfotransferase 1A1(IVW:P=1.42×102,OR=0.80,95%CI:0.67-0.96)had a unidirectional causal effect on cardiac hypertrophy.(2)Among the findings in multivariate Mendelian randomization,the levels of the CD6 isoform of T-cell surface glycoprotein(IVW:P=1.39×102,OR=0.81,95%CI:0.69-0.96)and the levels of Delta and Notch-like epidermal growth factor-related receptor(IVW:P=3.7×10-2,OR=0.73,95%CI:0.55-0.98)were positive,indicating that the results remained significant after excluding the effects of other circulating inflammatory proteins that had an impact on myocardial hypertrophy.(3)In colocalization,T-cell surface glycoprotein CD6 isoform levels had H3+H4=0.96,with the most significant single nucleotide polymorphism being rs59570070,suggesting an intrinsic link between T-cell surface glycoprotein CD6 isoform levels and myocardial hypertrophy.(4)Sensitivity results showed no abnormalities,indicating no heterogeneity or pleiotropic effects influencing the results.(5)These results verified that T cell surface glycoprotein CD6 isoforms,Slit chemokine,Delta and Notch-like epidermal growth factor-related receptors,interleukin-2,and sulfotransferase 1A1 had a unidirectional causal effect on myocardial hypertrophy.T cell surface glycoprotein CD6 isoforms and Delta and Notch-like epidermal growth factor-related receptors had the deepest impact,suggesting that there may be related pathways between T cell surface glycoprotein CD6 isoforms and myocardial hypertrophy.Mendelian randomization studies require large amounts of clinical data and therefore often use European samples from international databases for analysis.Since this analytical method has significant advantages in causal inference,precision medicine,and cross-population validation,its research results still hold great significance for the medical development in China.As Mendelian randomization research deepens,it also promotes the collection and analysis of clinical data in China to some extent.In the future,we can further analyze key protein mechanisms,combine multiomics and clinical validation,develop an inflammatory marker monitoring system and novel anti-inflammatory therapies,thereby promoting the prevention and control of cardiovascular diseases and the development of personalized medicine.
3.Contamination status and dietary exposure risk assessment of arsenic, cadmium, lead and mercury in commercially available aquatic products in Shanghai
Rong SHI ; Dandan MAO ; Limei CHEN ; Yan ZHANG ; Huimin ZHANG ; Yu GAO ; Ying TIAN
Shanghai Journal of Preventive Medicine 2026;38(8):598-603
ObjectiveTo investigate the contamination status of arsenic (As), cadmium (Cd), lead (Pb), and mercury (Hg) in commercially available aquatic products in Shanghai and their distribution characteristics among different categories of aquatic products, and to assess the dietary exposure levels and non‑carcinogenic health risks of As, Cd, Pb, and Hg through aquatic product consumption among different age groups, so as to provide a scientific basis for food safety surveillance of aquatic products and dietary risk management for residents in Shanghai. MethodsFrom October to November 2021, a total of 90 aquatic product samples, including marine fish, freshwater fish, freshwater shrimp, marine crab, freshwater crab, and mollusks, were randomly collected from 16 districts of Shanghai. Sample pretreatment was performed according to GB 5009.268‒2016 (National Food Safety Standard—Determination of Multi‑elements in Foods). The concentrations of As, Cd, and Pb in aquatic products were determined by inductively coupled plasma mass spectrometry (ICP‑MS), and Hg was determined by direct mercury analyzer. Inorganic arsenic (iAs) was estimated as 3.5% of total As according to the method recommended by the European Food Safety Authority (EFSA). The contamination levels of As, Cd, Pb, and Hg in aquatic products were evaluated according to GB 2762‒2017 (National Food Safety Standard—Maximum Levels of Contaminants in Foods). A combined approach of point assessment and probabilistic assessment was applied to estimate the estimated daily intake (EDI) and non‑carcinogenic risk indicators—hazard quotient (HQ) and hazard index (HI)—for different age groups. ResultsThe detection rates of As and Hg were both 100.00% in all samples, while those of Cd and Pb were 74.44% and 25.56%, respectively. The arithmetic means (wet weight) of the four elements and estimated iAs were: As (1.432 9±3.736 5) mg·kg-1, iAs (0.050 2±0.130 8) mg·kg-1, Cd (0.082 5±0.197 8) mg·kg-1, Pb (0.006 1±0.005 5) mg·kg-1, and Hg (0.021 9±0.016 7) mg·kg-1. According to the relevant maximum residue limits, 2 out of 7 mollusk samples (28.57%) and 3 out of 20 marine fish samples (15.00%) exceeded the limit for iAs, and 2 out of 8 marine crab samples (25.00%) exceeded the limit for Cd. The estimated daily intake (EDI, μg·kg-1·d-1, by body weight) of iAs, Cd, Pb, and Hg via aquatic product consumption varied among different age groups, with the highest levels observed in children aged 3‒4 years, decreasing gradually with age to the lowest level at 12 ‒ <15 years, with a slight rebound thereafter. The point assessment results showed that the HQs of iAs, Cd, Pb, and Hg ranged from 0 to 0.25, and the cumulative HI ranged from 0.27 to 0.48, all below 1, indicating a relatively low overall risk. The probabilistic assessment results revealed that under the high‑exposure scenario (P97.5), the HQs of iAs (1.101‒1.281) and Cd (1.175‒1.366) exceeded 1 in children aged 3‒9 years, suggesting potential health risks, while the HQs of Pb and Hg were all below 1, indicating relatively lower risks. ConclusionHg and As are ubiquitously detected in commercially available aquatic products in Shanghai, while the detection rates of Cd and Pb are relatively low. The overall non-carcinogenic risk is at an acceptable level, but children aged 3‒9 years may have potential health risks from iAs and Cd under high-percentile exposure levels. It is recommended to strengthen the monitoring of toxic elements in key aquatic products such as marine fish, mollusks, and marine crabs, and to implement targeted dietary risk management measures for sensitive populations, including children.
4.The association between the radiation field including the heart of breast cancer radiotherapy and the occurrence of coronary artery disease in patients
Wenhui CAI ; Wenduo ZHANG ; Hongfei LI ; Qinhong WU ; Mingyuan ZHU ; Hailei LIN ; Huimin LI ; Yuzhu LU ; Qiuzi ZHONG ; Xue YU
Chinese Journal of Radiation Oncology 2025;34(7):677-683
Objective:To investigate whether there is an association between the total dose of breast cancer radiotherapy, the mean dose of radiation field involving the heart and its substructures, and the long-term incidence of coronary heart disease (CHD) in patients.Methods:A retrospective analysis was conducted on 1125 patients with breast cancer who received radiotherapy with radiation fields involving the hear at Beijing Hospital from January 2009 to June 2022. The heart and its substructures of 54 patients were manually delineated, trained an automatic delineation model, and applied this model to the original radiotherapy planning images to automatically extract dosimetric parameters for the heart and substructures in the original plan. Based on the follow-up results, 1125 breast cancer patients were categorized into the CHD event group ( n=19) and non-event group ( n=1106). Wilcoxon rank-sum test, Chi-square test and adjustment for confounding factors using inverse probability weighting were used to compare the mean radiation dose received by the heart and its substructures, age at presentation, history of smoking, history of alcohol consumption, history of hypertension, and history of diabetes between two groups. The influencing factors of CHD were analyzed by univariate and multivariate logistic regression models. Results:The mean heart dose ( P=0.035), mean dose of right atrium ( P=0.049), right coronary artery ( P=0.013), septum ( P=0.045), and right ventricle ( P=0.039) of the event group were higher than that of the non-event group, and the differences were statistically significant. History of alcohol consumption was an independent risk factor for long-term CHD events in the breast cancer patients ( OR=7.35,95% CI: 1.56-25.58, P=0.004). After adjusting for confounding factors using inverse probability weighting, age at presentation was an independent risk factor for long-term CHD events ( OR=1.03, 95% CI: 1.01-1.05, P=0.004). Conclusions:In the breast cancer population with traditional high-risk factors of CHD receiving radiotherapy, the possibility of CHD probably remains high even if the dose of radiation field involving the heart and its substructures is low. Compared to traditional risk factors of CHD, the mean dose to the heart and its substructures in the radiation field of breast cancer patients exerts less impact on the occurrence of CHD after radiotherapy.
5.Tianxiangdan (TXD) alleviates myocardial ischemia reperfusion-induced ferroptosis through the activation of estrogen receptor alpha (ERα).
Yuanjia YUE ; Yu LI ; Xing RONG ; Zhao JI ; Huimin WANG ; Liang CHEN ; Lin JIANG
Chinese Journal of Natural Medicines (English Ed.) 2025;23(1):102-110
Tianxiangdan (TXD), a traditional Chinese herbal remedy, demonstrates efficacy in mitigating myocardial ischemia-reperfusion (I/R)-induced damage. This study employed network pharmacology to evaluate the therapeutic targets and mechanisms of TXD in treating I/R. High-performance liquid chromatography-mass spectrometry (HPLC-MS) identified 86 compounds in TXD. Network pharmacological analysis predicted potential target genes and their modes of action. Cardiac function, ischaemic ST changes, lactate dehydrogenase (LDH), malondialdehyde (MDA), superoxide dismutase (SOD) activity, myocardial fiber, and infarct size were assessed using in vivo and in vitro I/R injury models. Estrogen receptor alpha (ERα) protein expression and estradiol (E2) levels were measured to confirm TXD's impact on estrogen levels and ERα expression. To examine if TXD reduces I/R injury through ERα, an AZD group (300 nmol·L-1 AZD9496 and 15% TXD serum) was compared to a TXD group (15% TXD serum). The study hypothesized that TXD upregulates the ERα-mediated iron metamorphosis pathway. I/R injury-induced ferroptosis was identified using a Fer-1 group (1.0 μmol·L-1 Fer-1 and 15% TXD serum) to elucidate the potential association between ferroptosis and ERα proteins. A DCFH-DA probe detected reactive oxygen species (ROS) and Fe2+, while Western blotting assessed target protein expression. Both in vitro and in vivo experiments demonstrated that TXD attenuated I/R injury by reducing elevated ST-segment levels, improving cardiac injury biomarkers (LDH, MDA, and SOD), alleviating pathological features, and preventing I/R-induced loss of cell viability in vitro. The effects and mechanisms of TXD on I/R injury-associated ferroptosis were investigated using I/R-induced H9c2 cells. The TXD group showed significantly decreased ROS and Fe2+ levels, while the AZ group (treated with AZD9496) exhibited increased levels. The TXD group demonstrated enhanced expression of ERα and glutathione peroxidase 4 (GPX4), with reduced levels of P53 protein and ferritin-heavy polypeptide 1 (FTH1). The AZ group exhibited contrasting effects on these expression levels. The literature indicated a novel connection between ERα and ferroptosis. TXD activates the ERα signaling pathway, promoting protection against I/R-induced myocardial cell ferroptosis. This study provides evidence supporting TXD use for myocardial ischemia treatment, particularly in older female patients who may benefit from its therapeutic outcomes.
Animals
;
Ferroptosis/drug effects*
;
Estrogen Receptor alpha/genetics*
;
Myocardial Reperfusion Injury/genetics*
;
Drugs, Chinese Herbal/pharmacology*
;
Male
;
Mice
;
Humans
;
Mice, Inbred C57BL
;
Estradiol/metabolism*
6.A method to establish reference benchmarks for in vivo dose monitoring for radiotherapy based on dual-energy cone beam CT and deep learning
Huimin HU ; Zhengkun DONG ; Shutong YU ; Chen LIN ; Tian LI ; Yibao ZHANG
Chinese Journal of Radiological Medicine and Protection 2025;45(2):129-136
Objective:To achieve the conversion from dual-energy cone-beam CT (DECBCT) at the kilovolt (KV) level to projections at the megavolt (MV) level using an improved CycleGAN network, in order to provide a potential reference benchmark and real-time monitoring of in vivo doses delivered by exit beams for the safe implementation of advanced techniques such as online adaptive radiotherapy. Methods:Simulated patient data were generated using a 4D extended cardiac torso (XCAT) model, and projections were generated based on the geometric parameters of Varian′s onboard cone-beam CT. Furthermore, relative electron density (RED) images were derived from DECBCT images using an iterative dual-energy decomposition algorithm. The SE-CycleGAN and CycleGAN networks were trained to generate MV projection images using DECBCT projections and RED images, respectively. The performance of both methods was evaluated using metrics including structural similarity index (SSIM), peak signal-to-noise ratio (PSNR), and root mean square error (RMSE).Results:SE-CycleGAN significantly outperformed CycleGAN in all evaluation metrics ( Z = -23.92, -26.17, -25.54, -26.80, -11.54, -11.21, P<0.05), particularly in learning global information. Besides, although both methods generated satisfactory MV projections, training using DECBCT projections as input yielded better effects than training using RED images. For all the 3 636 sets of projections in the test set, the SE-CycleGAN and CycleGAN networks using DECBCT projections as input respectively yielded SSIMs of 0.997 7±0.000 7 and 0.997 1±0.001 6, PSNRs of 39.625 0±4.684 4 and 36.272 2±5.566 3, and RMSEs of 0.004 1±0.002 7 and 0.006 3±0.0043, respectively. In contrast, the SE-CycleGAN and CycleGAN networks using RED projections as input respectively yielded SSIMs of 0.996 8±0.001 0 and 0.996 2±0.001 5, PSNRs of 38.548 7±3.637 4 and 36.007 3±4.437 8, and RMSEs of 0.004 3±0.002 2 and 0.006 1±0.0037, respectively. Conclusions:This study proposed a new method to establish reference benchmarks for in vivo dose monitoring based on DECBCT and deep learning technologies. This method is accurate and effective according to the preliminary validation using virtual simulation experiments.
7.The association between the radiation field including the heart of breast cancer radiotherapy and the occurrence of coronary artery disease in patients
Wenhui CAI ; Wenduo ZHANG ; Hongfei LI ; Qinhong WU ; Mingyuan ZHU ; Hailei LIN ; Huimin LI ; Yuzhu LU ; Qiuzi ZHONG ; Xue YU
Chinese Journal of Radiation Oncology 2025;34(7):677-683
Objective:To investigate whether there is an association between the total dose of breast cancer radiotherapy, the mean dose of radiation field involving the heart and its substructures, and the long-term incidence of coronary heart disease (CHD) in patients.Methods:A retrospective analysis was conducted on 1125 patients with breast cancer who received radiotherapy with radiation fields involving the hear at Beijing Hospital from January 2009 to June 2022. The heart and its substructures of 54 patients were manually delineated, trained an automatic delineation model, and applied this model to the original radiotherapy planning images to automatically extract dosimetric parameters for the heart and substructures in the original plan. Based on the follow-up results, 1125 breast cancer patients were categorized into the CHD event group ( n=19) and non-event group ( n=1106). Wilcoxon rank-sum test, Chi-square test and adjustment for confounding factors using inverse probability weighting were used to compare the mean radiation dose received by the heart and its substructures, age at presentation, history of smoking, history of alcohol consumption, history of hypertension, and history of diabetes between two groups. The influencing factors of CHD were analyzed by univariate and multivariate logistic regression models. Results:The mean heart dose ( P=0.035), mean dose of right atrium ( P=0.049), right coronary artery ( P=0.013), septum ( P=0.045), and right ventricle ( P=0.039) of the event group were higher than that of the non-event group, and the differences were statistically significant. History of alcohol consumption was an independent risk factor for long-term CHD events in the breast cancer patients ( OR=7.35,95% CI: 1.56-25.58, P=0.004). After adjusting for confounding factors using inverse probability weighting, age at presentation was an independent risk factor for long-term CHD events ( OR=1.03, 95% CI: 1.01-1.05, P=0.004). Conclusions:In the breast cancer population with traditional high-risk factors of CHD receiving radiotherapy, the possibility of CHD probably remains high even if the dose of radiation field involving the heart and its substructures is low. Compared to traditional risk factors of CHD, the mean dose to the heart and its substructures in the radiation field of breast cancer patients exerts less impact on the occurrence of CHD after radiotherapy.
8.Effect of roxadustat on thyroid function in patients undergoing maintenance peritoneal dialysis
Sa ZHAO ; Huimin QIU ; Xuejie CHEN ; Tong WANG ; Qingyan ZHANG ; Ying LIU ; Qiuyuan SHAO ; Yanting YU ; Yuan FENG ; Chunming JIANG
Chinese Journal of Nephrology 2025;41(5):348-357
Objective:To evaluate the impact of roxadustat on thyroid function and to identify the associated factors in patients undergoing maintenance peritoneal dialysis (PD).Methods:This study was a single-center retrospective study. PD patients who received roxadustat or recombinant human erythropoietin (rHuEPO) treatment at Nanjing Drum Tower Hospital between January 2020 and June 2024 were included. The general and clinical information as well as laboratory indexes were collected. Serum free triiodothyronine (FT3), free thyroxine (FT4) and thyroid-stimulating hormone (TSH) were compared before and after treatment initiation. Hemoglobin (Hb) responses were also observed between the two groups. Logistic regression analysis was performed to explore the factors associated with thyroid function changes.Results:A total of 120 patients were enrolled, with an age of (55.17±16.42) years, including 66 males (55.0%). There were 81 patients received roxadustat (roxadustat group) and 39 patiens received rHuEPO (rHuEPO group). Compared to the rHuEPO group, the roxadustat group had a higher proportion of patients with diabetes ( χ 2= 4.172, P=0.041), a shorter PD vintage ( Z=-3.406, P=0.002), a lower serum level of total cholesterol ( Z=-2.082, P=0.037) and a lower level of fasting blood glucose ( Z=-2.589, P=0.010). Following treatment with roxadustat, the levels of FT4 ( Z=-5.349, P<0.01) and TSH ( Z=-3.720, P<0.01) decreased significantly. In contrast, no significant changes in FT4 or TSH levels were observed in the rHuEPO group (both P>0.05). For both roxadustat and rHuEPO groups, there were no significant changes in FT3 levels after treatment (both P>0.05). Multivariate analysis identified that higher baseline TSH (TSH≥2.27 μIU/ml, OR=1.581, 95% CI 1.196-2.089, P=0.001) and roxadustat exposure ( OR=3.432, 95% CI 1.410-8.355, P=0.007) as independent associated factors of subsequent TSH decline, and identified that higher baseline FT4 (FT4≥14.9 pmol/L, OR=1.390, 95% CI 1.162-1.662, P=0.001) and roxadustat exposure ( OR=5.798, 95% CI 2.225-15.113, P=0.001) as independent associated factors of subsequent FT4 decline. The degrees of hemoglobin changes after roxadustat or rHuEPO treatment did not differ significantly between roxadustat group and rHuEPO group ( t=-1.062, P=0.290). Of the 31 patients who underwent a second thyroid function test during roxadustat treatment, 24 continued with the original regimen, while 7 discontinued roxadustat. Among 24 patients who maintained roxadustat treatment, TSH ( Z=-0.400, P=0.689) and FT4 ( t=0.143, P=0.888) remained stable between the second and third tests. All 7 patients who discontinued roxadustat treatment showed TSH rebound and the changes of TSH levels were more significant than that in continuers ( Z=-2.505, P=0.012). FT4 recovery occurred in only 3 of them, with no significant difference in FT4 change between discontinuers and continuers ( Z=-0.685, P=0.493). Conclusions:Roxadustat commonly suppresses TSH and FT4, but not FT3, in PD patients. Baseline levels of TSH and FT4 are key associated factors of the inhibitory effect of roxadustat on thyroid function. This suppression does not intensify with prolonged exposure and is reversible after discontinuation, with TSH levels normalizing more quickly than FT4. Roxadustat-induced thyroid suppression does not compromise its efficacy in treating renal anemia.
9.A case report of neurodevelopmental disorder with seizures caused by de novoNBEA gene variation and review of literature
Huimin ZHAO ; Cheng YE ; Ying LI ; Shufeng YU ; Kaili SHI
Chinese Journal of Neurology 2025;58(10):1073-1079
Objective:To discuss the clinical and genetic characteristics of neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) caused by NBEA gene variation. Methods:The clinical and genetic records of a patient who was diagnosed with NEDEGE caused by NBEA gene variation at the Department of Neurology, Guangzhou Women and Children′s Medical Center in April 2024 were collected retrospectively. Using " NBEA or neurobeachin" "Autism spectrum disorders or ASD" "Epilepsy" "Neurodevelopmental disorders" as the keywords, relevant articles were searched at CNKI, Wanfang and PubMed databases from establishment of these databases to December 2024. Clinical and genetic features of NEDEGE were summarized in the combination of this case. Results:The proband, a 3 years old boy, was backward in development since childhood. He had autism spectrum disorder-like manifestations such as stereotyped behavior and poor eye contact. At the age of 2, he developed generalized seizures. The whole exome sequencing showed a de novo heterozygous variation of c.244CT(p.Gln82 *) in the NBEA gene (NM-001385012.1), and he was diagnosed with NEDEGE. A total of 10 articles (all in English) were retrieved, reporting 36 cases of NBEA gene related NEDEGE (including this case), 4 of whom coming from China. Twenty-four individuals suffered from mild to severe intellectual disability, and most were moderate.Twenty-eight patients had language delay, including 4 cases of complete loss of language function, and 24 patients had seizures, and 19 patients had autism or autima-like behavior problems. Conclusions:This case enriches the mutation spectrum of the NBEA gene, and the c.244CT is the first reported related variation in the Chinese population. The clinical symptoms of NEDEGE related to NBEA gene mutations are most pronounced in neurodevelopmental disorders, followed by seizures and autistic behavior.
10.A preliminary exploration of a prediction model for gestational diabetes mellitus combined with reproductive tract infection based on decision tree algorithm
Suqun JIN ; Huimin GU ; Fangfang YU
Chinese Journal of Practical Nursing 2025;41(27):2127-2133
Objective:To construct a prediction model for gestational diabetes mellitus (GDM) complicated with reproductive tract infections based on the decision tree algorithm, and explore prevention and control strategies for GDM complicated with reproductive tract infections.Methods:This cross-sectional study used convenience sampling to select 256 GDM patients treated at the Obstetrics and Gynecology Hospital, School of Medicine, Zhejiang University from January 2023 to June 2024 as the study subjects. Based on the occurrence of reproductive tract infections, the patients were divided into a non-infection group and an infection group. Multivariate Logistic regression analysis and the decision tree method were employed to create a prediction model for GDM complicated with reproductive tract infections, and the risk prediction performance of the model was evaluated.Results:Among the 256 GDM patients, the age ranged from 20 to 43 (33.42 ± 4.25) years. The incidence of reproductive tract infections was 18.75% (48/256). Multivariate Logistic regression analysis revealed that age, glycosylated hemoglobin>6%, history of reproductive tract infections, uncontrolled blood glucose, and frequency of sexual activity ≥2 times during mid-to-late pregnancy were independent risk factors for reproductive tract infections in GDM patients ( χ2 values were 2.08-4.24, all P<0.05). The decision tree model for GDM complicated with reproductive tract infections consisted of 4 layers and 17 nodes, with the nodes selecting five indicators: age, frequency of sexual activity during mid-to-late pregnancy, blood glucose control status, sharing of vulvar cleaning tools, and history of reproductive tract infections. Among these, age was the most significant predictor of reproductive tract infections in GDM patients. The area under the curve (AUC) value of the decision tree model for GDM complicated with reproductive tract infections was 0.948, while the AUC value of the multivariate logistic regression model was 0.927. There was no statistically significant difference between the AUC values of the decision tree model and the multivariate logistic regression model ( P>0.05). Conclusions:The constructed decision tree model for GDM patients developing genital tract infections has high application value and can serve as a basis for clinical screening of potential GDM patients at risk of genital tract infections.

Result Analysis
Print
Save
E-mail