OBJECTIVE: To explore the efficacy of a Thalassemia risk assessment software for the screening of thalassemia mutation carriers and distribution of thalassemia genotypes detected by screening. METHODS: A total of 6 040 individuals were evaluated at Leshan Maternal and Child Health Care Hospital between 2022 and 2024 using the commonly used clinical thalassemia risk assessment method and the thalassemia screening software, respectively, and the performance indicators of the two methods were compared and analyzed against the result of thalassemia gene testing. This study was approved by the Ethics Committee of our hospital (Ethics No.: LfyLL[2022]005). RESULTS: The high-risk rate by the thalassemia screening software was 11.19%, with a sensitivity of 95.12%, specificity of 93.28%, positive predictive value of 43.20%, negative predictive value of 99.72%, and the area under the ROC curve (AUC) was 0.942. The thalassemia gene detection rate of the high-risk samples screened was 4.83%. The high-risk screening rate of the conventional method was 2.50%, with a sensitivity of 51.22%, specificity of 93.28%, positive predictive value of 80.79%, negative predictive value of 97.40%, and the AUC was 0.754. The thalassemia gene detection rate of the high-risk samples was 2.02%. CONCLUSION The software can effectively detect thalassemia carriers and significantly reduce the missed detection compared with conventional method, thereby significantly improve the efficacy of screening.
Humans ; Thalassemia/diagnosis* ; Software ; Female ; Genetic Testing/methods* ; Male ; Mutation ; Adult ; Genotype ; ROC Curve ; Risk Assessment

Histone lactylation is a recently identified post-translational modification, wherein lactate mediates the enzymatic addition of lactyl groups to lysine residues on histones. Since its discovery, extensive research has demonstrated that histone lactylation is widely present in human tissues and plays a pivotal role in regulating the transcription of specific genes. Subsequent studies have further established this modification as a widespread epigenetic mark with significant physiological implications. With advancing research, accumulating evidence confirms that lactylation at distinct histone sites elicits diverse biological effects—such as promoting cell proliferation, driving inflammatory responses, and enhancing fibrosis—all of which profoundly influence disease progression and serve as key drivers of disease onset and development. Conversely, inhibiting histone lactylation can alter disease outcomes, positioning histone lactylation as a promising therapeutic target. Moreover, studies have revealed crosstalk between histone lactylation and other post-translational modifications, such as acetylation and methylation, which collectively regulate disease progression. Notably, lactylation occurs not only on histones but also on non-histone proteins. Histone lactylation activates specific gene transcription and reshapes metabolic epigenetics, while non-histone lactylation directly modulates enzyme activity, signal transduction, and protein stability. These two facets form a synergistic network through shared lactate pools, common modifying enzyme systems, and pathway crosstalk, thereby constructing a multi-dimensional regulatory framework—namely, the “histone lactylation-metabolism hub-non-histone lactylation” axis. This architecture bridges metabolism and epigenetics, and deciphering its topological structure may provide novel targets for precise intervention in diseases driven by lactate-mediated signaling hijacking. Traditional Chinese medicine (TCM), grounded in clinical practice, has been shown to regulate histone lactylation by modulating lactate metabolism and lactylation-related enzymes, thereby influencing disease progression. Moreover, certain TCM formulations exhibit potential as alternative therapies for drug-resistant diseases, underscoring the significance of further exploring TCM-mediated regulation of histone lactylation in future therapeutic strategies. This review aims to elucidate the mechanisms underlying histone lactylation, systematically delineate the associations between site-specific histone lactylation and various diseases, present a comprehensive landscape of the “lactate-histone lactylation and functional protein lactylation” axis, and summarize the mechanistic basis and research advances in TCM-mediated regulation of histone lactylation for disease treatment. Additionally, we discuss current challenges in histone lactylation research and propose future directions, ultimately aiming to deepen understanding and broaden perspectives on the roles and therapeutic potential of histone lactylation in disease.

Objective To explore the relationship between plasma amyloid-β(Aβ)and cognitive impairment.Methods A total of all villagers(aged 40 years and above)from two villages of Xi'an,China,were enrolled.A validated Chinese version of the Mini-Mental State Examination and neuropsychological battery were used to assess cognition.Levels of fasting plasma Aβ1-42 and Aβ1-40 were tested using commercial enzyme-linked immunosorbent assay(ELISA).Relationship between plasma Aβ and cognitive impairment was analyzed using Logistic regression analysis.Results Of the 1 314 enrolled subjects,1 180(89.80％)had normal cognition,85(6.47％)had suspected cognitive impairment,and 49(3.73％)had probable cognitive impairment.Univariate analysis showed that plasma Aβ1-42/Aβ1-40 ratio was higher in the suspected cognitive impairment group than in the probable cognitive impairment group(P＜0.05)and normal cognitive group(P＜0.05);plasma Aβ1-42 level in the suspected cognitive impairment group was higher than that in normal cognitive group(P＜0.05).The level of Aβ1-40 did not differ between the three groups.After correcting for confounding factors(including age,gender,degree of education,cognitive impairment risk factors,habits of living)in the multivariate Logistic regression analysis,the results were consistent with those in the univariate analysis.Conclusion Levels of plasma Aβ1-42 and Aβ1-42/Aβ1-40 ratio were elevated in patients with suspected cognitive impairment,indicating that elevated plasma Aβ1-42 and Aβ1-42/Aβ1-40 ratio may be more pronounced in early stage of cognitive impairment.They may be early biomarkers for cognitive impairment,which can help identify and intervene the disease earlier.

Objective:To investigate the relationship between dynamic alterations in serum albumin (ALB) concentrations and clinical outcomes in hospitalized surgical patients, thus providing a basis for optimizing clinical management strategies.Methods:This study utilized data from a prospective observational cohort study on nutritional status among 7 122 elderly hospitalized patients across 34 tertiary hospitals in 18 Chinese cities. A total of 1 714 surgical patients hospitalized for 7-30 days with complete data were included. Standardized protocols were used to collect demographic data, clinical outcomes, and a range of laboratory results, including nutritional and hematological parameters. Heterogeneous effects of ALB on clinical outcomes were explored. Receiver operating characteristic (ROC) curves were used to determine cutoff values for infection-related complications. Correlation analyses and multiple linear regression models were used to identify independent predictors of the absolute change in ALB (?ALB).Results:Among the surgical patients, 69.7% (1 195/1 714) experienced a decline in ALB levels during their hospital stay, which was significantly associated with the occurrence of both infection- and non-infection-related complications. Simultaneously, a marked decrease in ALB was also significantly correlated with changes in nutritional and inflammatory status during hospitalization, worsening of gastrointestinal symptoms at discharge, and functional activity abnormalities (all P<0.05). ?ALB exhibited a close association with outcome variables such as infection-related complications. Based on the incidence of infection-related complications, a cutoff value for ALB was calculated, dividing patients into a high-risk group ( n=179) and a low-risk group ( n=1 535), and a statistically significant difference in the incidence of infection-related complications was found between these two groups ( P<0.05). Correlation analysis and multiple linear regression modeling revealed that female gender, a higher baseline ALB level, a poorer baseline inflammatory status, an exacerbation of inflammatory status, larger alterations in platelet-to-lymphocyte ratio, and the presence of infection-related complications were predictive factors for a decline in ALB levels among surgical patients during their hospital stay. Conclusions:?ALB serves as a critical indicator of the inflammatory-nutritional interplay, with its magnitude of decline effectively predicting clinical outcomes and nutritional status changes and guiding multidisciplinary interventions in surgical patients.

Objective:To investigate the factors in fluencing thyroid function abnormality(TFA)and its relationship with the clinical efficacy of sindilizumab treatment in patients with advanced gastric cancer.Methods:The clinical data of 180 patients with advanced gastric cancer treated with sintilimab at Jinan People's Hospital from January 2021 to June 2024 were retrospectively reviewed.Patients were assigned in-to the TFA group and the normal control group according to thyroid function.Factors influencing the occurrence of TFA were investigated using the χ2 test and multifactorial Logistic regression.Kaplan-Meier analysis and the Log-rank test were used for comparison between groups.Univariate and multivariate Cox regression were used to assess the correlation between TFA and therapeutic efficacy.Results:A total of 52 patients developed TFA.Univariate analysis showed that history of thyroid nodule,treatment regimen,liver metastasis,and car-cinoembryonic antigen(CEA)were associated with the development of TFA.Multifactorial Logistic regression analysis showed that history of thyroid nodule,treatment regimen,and CEA were independent risk factors for the development of TFA(P<0.05).The objective response rate(ORR;34.6%vs.14.1%,P=0.002),disease control rate(DCR;69.2%vs.59.8%,P=0.024),and 1-year survival rate(59.6%vs.28.9%,P=0.012)were all better in the normal control group than those in the TFA group.Cox regression analysis showed that occurrence of TFA,liver meta-stasis,and≥6 treatment cycles were all independently associated with progression-free survival and overall survival in patients with ad-vanced gastric cancer(P<0.05).Conclusions:History of thyroid nodule,treatment regimen,and CEA may influence the occurrence of TFA.TFA may be a potential predictor of the efficacy of sindilizumab therapy for advanced gastric cancer,with patients who develop TFA poten-tially having better treatment outcomes.

Aim To investigate the mechanism by which sufentanil(Suf)improved hypoxia-reoxygen-ation(H/R)-induced myocardial cell injury by regula-ting hypoxia inducible factor-1α(HIF-1α)and KC-NQ1 opposite strand/antisense transcript 1(Kcnq1ot1).Methods Bioinformatics analysis was conducted to predict the interaction between HIF-1αand Kcnq1ot1.Subsequently,H9c2 cells were divided into multiple treatment groups:Ctrl group,H/R group,and Suf group.Further grouping was based on different transfection conditions,including oe-HIF-1α group,oe-HIF-1α+Suf group,sh-HIF-1α group,and sh-HIF-1α+Kcnq1ot1 group.Cell viability was detected u-sing the MTT assay,cell apoptosis was detected using the TUNEL assay,and the concentrations of CK-MB and HBDH in cell supernatants were measured using ELISA.HIF-1α protein expression in cellswas deter-mined by Western blot,and the mRNA expression level of Kcnq1ot1 was measured by reverse transcription quantitative PCR(RT-qPCR).Additionally,a rat model of myocardial is chemia reperfusion was con-structed to evaluate the therapeutic potential of Suf for myocardial ischemia reperfusion injury in vivo.Results The results of bioinformatics analysis showed a direct interaction between HIF-1α and Kcnq1ot1.Compared with the Ctrl group,the H/R group showed significantly reduced H9c2 cell viability,increased cell apoptosis,and significantly upregulated concentrations of CK-MB and HBDH,along with significantly enhanced expres-sion of HIF-1α and Kcnq1ot1(all P＜0.05).When H9c2 cells were transfected with oe-HIF-1 α,cell via-bility further decreased,apoptosis was worsened,and CK-MB and HBDH concentrations further increased(all P＜0.05);however,these adverse effects were significantly inhibited when combined with Suf inter-vention(all P＜0.05).Additionally,compared with the H/R group,the sh-HIF-1α group showed signifi-cantly improved cell viability,reduced apoptosis and decreased CK-MB and HBDH concentrations(all P＜0.05);however,these improvements were partially re-versed upon transfection with Kcnq1ot1(all P＜0.05).Animal experiments confirmed that Suf could improve myocardial ischemia-reperfusion injury in myo-cardial ischemia-reperfusion injury rats.Conclusions Suf improves myocardial H/R injury by inhibiting the HIF-1α-Kcnq1ot1.

Objective To explore the mechanism by which electroacupuncture improves ocular surface inflammation in dry eye mice.Methods 30 SPF-grade healthy male ICR mice were randomly divided into a blank group,a model group,a sham electroacupuncture group,a western medicine group and an electroacupuncture group,with 6 mice in each group.Mice in the blank group and other four groups were subcutaneously injected 200 μL of sterile physiological saline and 200 μL of scopolamine hydrobromide(0.5 mg dissolved in 0.2 mL of sterile physiological saline)at 8:00,11:00,14:00,and 17:00 every day for 35 consecutive days,respectively.From the 22nd day,mice in the sham electroacupunc-ture group were given blunt scalp acupuncture intervention at bilateral Jingming and Taiyang points,without subcutaneous penetration.In the western medicine group,fluorometholone eye drops were applied to both eyes of the mice at 8:00,13:00,and 18:00 daily,with 1 drop each time.Mice in the electroacupuncture group were given electroacupuncture in-tervention,with the same acupoint location and acupuncture time as the sham electroacupuncture group.The electroacu-puncture frequency was 2 Hz/20 Hz,the waves were sparse-dense and the intensity was 1 mA,once a day for 15 min.All groups were intervened for 14 days.The corneal fluorescein(FL)staining scores of mice in each group were detected be-fore modeling,after modeling,and after intervention.The corneal tissue morphology was observed under a light micro-scope.Immunohistochemistry staining and quantitative reverse transcription polymerase chain reaction(qRT-PCR)were used to detect the protein and mRNA expression of high mobility group box 1(HMGB1)and receptor for advanced glyca-tion end products(RAGE)in the cornea,respectively.Results The FL scores of mice in model,sham electroacupunc-ture,western medicine,and electroacupuncture groups all significantly increased after modeling and intervention,com-pared with those before modeling(all P＜0.01).The FL scores of mice in electroacupuncture and western medicine groups significantly decreased after intervention,compared with those after modeling(both P＜0.01).Compared with the model group,electroacupuncture and western medicine groups showed a significant drop in FL score after intervention(both P＜0.01).HE staining showed that after intervention,mice in electroacupuncture and western medicine groups had a basically normal number of corneal epithelial layers,no obvious shedding of epithelial cells,and neatly arranged and slightly swollen collagen fibers in the stromal layer.The relative protein expression levels of HMGB1 and RAGE in the corneal tissue of both model and sham electroacupuncture groups were significantly higher than those of the blank group(allP＜0.01).The rela-tive protein expression levels of HMGB1 and RAGE in the corneal tissue of both electroacupuncture and western medicine groups were significantly lower than those of the model group(all P＜0.01).The relative mRNA expression levels of HMGB1 and RAGE in the corneal tissue of both model and sham electroacupuncture groups were significantly higher than those of the blank group(all P＜0.01).The relative mRNA expression levels of HMGB1 and RAGE in the corneal tissue of both electroacupuncture and western medicine groups were significantly lower than those of the model group(all P＜0.01).Conclusion Electroacupuncture mitigates corneal epithelial injury,reduces the expression of HMGB1 in the cor-neal tissue,inhibits the binding of HMGB1 and RAGE,and ultimately alleviates ocular surface inflammation responses of dry eye mice.

Prostate cancer is one of the most common male urological malignancies,in which bone metastasis of desmo-plasia-resistant prostate cancer is an important stage in the progression of the disease,which seriously affects the quality of life and survival of patients.With the development of nuclide therapy technology in recent years,223-Ra,as a new type of alpha-targeted therapy,has shown good efficacy in the treatment of desmoplasia-resistant prostate cancer bone metastasis.The purpose of this pa-per is to review the characteristics,mechanism of action,treatment,and the main research results of its treatment of desmoplasia-resistant prostate cancer bone metastasis,and provide a comprehensive review of the clinical application of 223-Ra in the treatment of desmoplasia-resistant prostate cancer bone metastasis for the clinical application of 223-Ra in prostate cancer bone metastasis.

BACKGROUND:The combination of traditional Chinese medicine syndrome and semen quality-related parameters can jointly predict the occurrence of abnormal increase in sperm DNA fragmentation index (DFI) and draw a column chart,which can significantly improve clinical practicality and application efficiency,provide a basis for comprehensive evaluation of semen quality in clinical practice,take active intervention measures to improve clinical outcomes,and formulate personalized medical plans.OBJECTIVE:To explore the prediction model and verification of sperm DNA fragments based on traditional Chinese medicine syndrome and semen quality-related parameters.METHODS:Retrospective analysis was made on 420 infertile patients who received traditional Chinese medicine syndrome diagnosis and sperm DNA fragment rate examination in the Department of Traditional Chinese Medicine Andrology,Nanxishan Hospital of Guangxi Zhuang Autonomous Region from July 2019 to July 2021.According to the Manual of Human Semen Examination and Treatment Laboratories (6th Edition),137 patients with sperm DFI>30％ were included in the group of abnormally high sperm DFI,and 283 patients with sperm DFI ≤ 30％ were taken as the control group.First,univariate analysis was used to screen the influencing factors of the abnormal increase of sperm DFI.Then,the best matching factor was selected by using the collinearity problem of LASSO correction factors.Then,it was included in the multifactor forward stepwise logistic regression to find out its independent influencing factors and draw a nomogram.Finally,the receiver operating characteristic curve,calibration curve,decision curve analysis and clinical impact curve were used to verify the differentiation and accuracy of the prediction model and its clinical application effectiveness.RESULTS AND CONCLUSION:(1) The results of the univariate analysis showed that age,body mass index,forward motion rate,total sperm motility,sperm concentration,sperm morphology,kidney yang deficiency syndrome,damp heat downpour syndrome,and kidney sperm deficiency syndrome were the influencing factors for the abnormal increase of sperm DFI (P<0.05).(2) The best matching factors further screened by LASSO regression were age,body mass index,total sperm motility,sperm concentration,sperm morphology,kidney yang deficiency syndrome,damp heat downpour syndrome,and kidney essence deficiency syndrome (P<0.05).(3) Multifactor forward stepwise Logistic regression showed that age,body mass index,sperm concentration,total sperm motility,damp heat downpour syndrome,and kidney yang deficiency syndrome were six independent factors that caused the abnormal increase in sperm DFI.(4) Receiver operating characteristic curve showed that the area under the curve of the model group was 0.760(0.713,0.806),and the area under the curve of the validation group was 0.745(0.714,0.776).It showed that the prediction model had good discrimination.(5) The average absolute error of the calibration curve was 0.040,and the Hosmer Lemeshow test (P>0.05),suggesting that there was no significant statistical difference between the probability of the abnormal increase in DFI of spermatozoa predicted by the model and the probability of the abnormal increase in DFI of spermatozoa actually occurred,which confirmed that the model had good accuracy.(6) Decision curve analysis and clinical impact curve showed that the model group and validation group had the maximum clinical net benefit when the threshold probability values were (0.08-0.84) and (0.09-0.78) respectively,and had good clinical application efficiency within the threshold probability range.(7) These findings conclude that age,body mass index,sperm concentration,total sperm viability,damp heat downpour syndrome and kidney yang deficiency syndrome are independent factors that cause the abnormal increase in sperm DFI.The nomogram of the clinical prediction model constructed by them has good clinical prediction value and clinical application efficiency,and can provide the basis for comprehensive clinical evaluation of semen quality and individualized medical service.

Objective:To investigate the predictive value of endothelial activation and stress index(EASIX)for the prognosis of patients with mantle cell lymphoma(MCL).Methods:A retrospective analysis was conducted to assess prognosis and compare the clinical features of patients diagnosed with MCL who were admitted to the Affiliated Hospital of Xuzhou Medical University from January 2010 to June 2023,had therapeutic indications and received standard treatment.Results:A total of 66 patients were included and divided into high EASIX group and low EASIX group,according to a cutoff value of 0.97 determined by the receiver operating characteristic(ROC)curve.Multivariate Cox regression analysis showed that prealbumin＜0.2 g/L,high EASIX,and ECOG PS score ≥2 were independent risk factors influencing overall survival(OS)in MCL patients.The median OS of patients in the high and low EASIX group was 13.0 and 37.5 months,and the median progression-free survival was 8.8 and 26.0 months,respectively.The proportions of patients with ECOG PS score ≥2 and prealbumin＜0.2 g/L at onset significantly increased in the high EASIX group compared to those in the low EASIX group.Conclusion:At the time of initial diagnosis,EASIX can serve as an independent prognostic indicator impacting OS in patients with MCL.Furthermore,patients in the high EASIX group experience a poorer prognosis and shorter survival duration compared with those in the low EASIX group.