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

Primary cilia—those solitary, microtubule-based projections extending from the surface of most eukaryotic cells—are increasingly recognized not merely as cellular appendages, but as sophisticated signaling hubs. By compartmentalizing specific receptors (e.g., GPCRs) and effectors within a microdomain guarded by the transition zone, these organelles function effectively as high-gain sensors capable of integrating mechanical stimuli with metabolic cues. In this review, we examine the pivotal role of primary cilia across the nervous, bone-vascular, and renal landscapes, arguing for a unified “mechano-metabolic coupling” framework. Here, conserved ciliary modules are not static; rather, they are differentially deployed to uphold systemic homeostasis. Within the central nervous system, we position primary cilia as upstream integrators. We highlight how hypothalamic neuronal cilia concentrate metabolic receptors, such as the melanocortin 4 receptor (MC4R), to interpret energy status. Moreover, the recent identification of serotonergic “axon-cilium synapses” points to a direct mode of neurotransmission, wherein 5-HT6 receptors drive nuclear signaling and chromatin accessibility to rapidly modulate gene expression. Through these mechanisms, central cilia modulate sympathetic tone and neuroendocrine output, effectively establishing the mechanical and metabolic “boundary conditions” under which peripheral organs operate. Dysfunction in these central hubs is linked to obesity and neurodevelopmental disorders, including Bardet-Biedl syndrome. In peripheral tissues, cilia serve as versatile mechanotransducers that convert physical forces into biochemical responses. Regarding the bone-vascular system, we discuss the translation of mechanical loads and fluid shear stress into structural remodeling. In osteoblasts, specifically, ciliary integrity is intrinsically linked to cholesterol and glucose metabolism, fine-tuning the balance between Hedgehog and Wnt/β-catenin signaling to govern osteogenesis and bone repair. A similar dynamic exists in the vasculature, where endothelial cilia sense shear stress to modulate KLF4 expression and endothelial-to-mesenchymal transition—processes critical for valvulogenesis and vascular remodeling. Meanwhile, in the kidney, tubular cilia act as terminal effectors within a “shear-cilia-metabolism” axis. Here, fluid shear stress engages ciliary signaling to trigger AMPK-mediated lipophagy and mitochondrial biogenesis, thereby securing the ATP supply required for solute transport. Notably, dysregulation of this axis leads to metabolic reprogramming and aberrant proliferation, acting as a hallmark driver of cystogenesis in polycystic kidney disease (PKD). Crucially, this review attempts to dissect the often-conflated logic of cross-system integration by distinguishing 3 non-equivalent pathways: direct communication via ciliary extracellular vesicles, though this remains largely hypothetical in long-range signaling; “physiology-mediated cascades”, where ciliary dysfunction in a single organ—such as the kidney—precipitates systemic pathology through hemodynamic and metabolic shifts (e.g., altered blood pressure, fluid volume, or uremic toxins); and “parallel molecular defects”, where shared genetic mutations in ubiquitous components like the IFT machinery cause simultaneous, independent failures across multiple organ systems. Building on these distinctions, we propose a nested-loop model that links central set-points with peripheral feedback via physiological variables. Furthermore, we construct a “causality-to-translation” roadmap that pinpoints structural repair (e.g., targeting IFT assembly) and metabolic rescue (e.g., AMPK activation or autophagy induction) as promising therapeutic avenues. Ultimately, this framework provides a theoretical basis for deciphering the shared pathological mechanisms of multisystem ciliopathies, offering a strategic guide for the development of targeted interventions that go beyond symptomatic treatment.

Objective: To systematically compare the types and contents of volatile organic compounds (VOCs) in purplish-brown and yellow-brown Ziziphi Spinosae Semen, and to provide a scientific basis for their rapid identification and quality evaluation.
Methods: Headspace-gas chromatography-ion mobility spectrometry (HS-GC-IMS) was employed to determine the VOCs in two colored samples. GC-IMS spectra and fingerprint profiles were established, and chemometric methods including principal component analysis (PCA) and partial least squares-discriminant analysis (PLS-DA) were applied to visualize the differences in volatile components.
Results: A total of 44 VOCs were identified, including 1 aldehyde, 9 esters, 10 ketones, 2 enals, 14 alcohols, 3 acids, 2 furans, 1 disulfide, and 2 hydrocarbons. Alcohols and esters were the main volatile components. The fingerprint profiles showed high consistency within groups but significant differences between groups. Both PCA and PLS-DA effectively distinguished the two sample types. Compounds such as pentanol, methyl butyrate, 2-ethylfuran, 2-hexanol, and 2-methylpropenal were identified as key markers for differentiation.
Conclusion: HS-GC-IMS combined with chemometrics accurately distinguishes the volatile compounds of Ziziphi Spinosae Semen with different colors. This method is rapid, sensitive, and suitable for quality control and rapid authentication of Ziziphi Spinosae Semen.

Objective To observe the dynamic changes of molecules related to the Nrf2/Keap1/p62 signaling pathway in patients with postoperative pulmonary inflammation after thoracic surgery,and explore its relationship with prognosis.Methods Sixty patients with postoperative pneumonia after thoracic surgery who met the criteria in the Department of Thoracic Surgery of Taihe County Hospital of Traditional Chinese Medicine from June 2023 to June 2024 were selected as the research subjects.Venous blood was collected from the pa-tients on the day before surgery,the first day after surgery,the third day after surgery,and the seventh day after surgery to detect the lev-els of superoxide dismutase(SOD),nitric oxide(NO),malondialdehyde(MDA),reactive oxygen species(ROS)in peripheral blood,as well as the expression of Nrf2,Keap1,and p62 mRNA.The correlations between these indicators and the prognosis of postoperative pulmonary infection after thoracic surgery were analyzed.Results The SOD level of the patients decreased after the operation compared with that before the operation,reaching the lowest value on the first day after the operation.The levels of MDA and ROS increased after the operation,but slowly decreased on the seventh day after the operation.There was no significant change in the NO level compared with that before the operation.Compared with before the operation,the expression levels of Nrf2 and Keap1 in the patients decreased signifi-cantly on the first day after the operation,and then slowly increased.The expression level of p62 increased to the peak on the first day af-ter the operation,and then decreased.The results of lung function index measurement showed that the patients had pulmonary infection af-ter the operation,and the lung function level decreased significantly compared with that before the operation.Through ROC curve analy-sis,the dynamic changes of SOD,ROS,Nrf2,Keap1 and p62 in the patients with pulmonary inflammation after thoracic surgery have good predictive value for prognosis.Conclusion The changes of Nrf2/Keap1/p62 signaling pathway-related factors in patients with post-thoracic surgery-induced pulmonary inflammation are significantly correlated with the prognosis of these patients.Such changes can effectively predict the prognosis of patients from the perspective of the expression levels of related genes.

Objective To construct a radiomics model to improve the discriminatory ability of 18 F-PSMA-1007 PET/CT for focal prostate cancer.Methods We retrospectively collected data from 74 patients diagnosed with prostate cancer by biopsy at The First Affiliated Hospital of Xi'an Jiaotong University between July 2020 and April 2024.These patients had focal radionuclide accumulation observed on 18F-PSMA-1007 PET/CT,with the median age of 71 years.Among them,42 patients had a Gleason score＜8 and 32 patients had a Gleason score ≥8.An external validation set was randomly selected based on the timing of examination,while the remaining patients were randomly divided into training and test sets at a 7∶3 ratio.Region of interest(ROI)were semi-automatically drawn on registered images,manually adjusted,and symmetrically shifted to contralateral non-tumor tissue.We made variance and correlation analyses to choose features,and built models with Logistic regression and compared the results with those of visual evaluation.Receiver operating characteristics(ROC)curves were drawn to compare model performance,and subgroup analysis was performed to identify optimal features for distinguishing tumor tissue,based on Gleason score,serum total prostate specific antigen(tPSA)levels,and lesion location.Results A total of eight features were selected.The area under the curve(AUC)for visual evaluation,testing set,and external validation set were 0.858,0.933,and 0.891,respectively.The sensitivity was 0.757,0.800 and 0.917;the specificity was 0.960,0.800 and 0.792,respectively.Subgroup analysis showed that the radiomic features 10percentile and skewness had a high value in tumor differentiation.In tumor tissues,the 10percentile values were higher than in non-tumor tissues across all groups(P-values were 0.012,0.002,＜0.001,＜0.001,＜0.001,and＜0.001).When tPSA≤10 ng/mL and Gleason score ≥8,there was no statistically significant difference in skewness between tumor and non-tumor tissues(P=0.08).When tPSA ≥20 ng/mL,the skewness of non-tumor tissue was slightly higher than that of tumor tissue,but the difference was not statistically significant(P-values were 0.285 and 0.791).When the tumor was located in the posterior part of the prostate(left posterior and right posterior),the skewness was significantly higher in tumor tissue than in non-tumor tissue(P-values＜0.001 for both).Conclusion The radiomics model had better sensitivity and accuracy than visual evaluation in distinguishing focal prostate cancer tumors from non-tumor tissues,but visual evaluation had higher specificity.Skewness and 10percentile had a high value in differential diagnosis.

AIM To establish a UPLC-ESI-MS/MS method for analyzing the toxic material basis of 95％ethanol cold soaked ultrasonic extract(EC),95％ethanol heated reflux extract(EH)and water decoction extract(WD)from Dryopteris crassirhizoma Nakai.METHODS The analysis was performed on a 25 ℃ thermostatic agilent ZORBAX RRHD StableBond C18 column(2.1 mm×150 mm,1.8 μm),with the mobile phase comprising of methanol-0.2％formic acid flowing at 0.30 mL/min,and heated electrospray ion source was adopted in positive and negative ion scanning.Compounds were identified by Compound Discover 3.3 software combined with the database and related literature,and the main differential components were screened by Heatmap cluster analysis and partial least squares discriminant analysis.RESULTS 72 compounds were identified(22 phloroglucinols,19 flavonoids,8 phenylpropanoids,6 terpenoids and 17 other components).The main toxic differential components were phloroglucinols such as flavaspidic acid AB,didemethylpseudoaspidin AA and filixic acid PBP,flavonoids such as(-)-epicatechin,(-)-epigallocatechin,cianidanol,and other compounds such as indole-3-carboxaldehyde.CONCLUSION This method can rapidly,effectively and comprehensively characterize the main chemical composition of D.crassirhizoma,and provide a reference for the study of its pharmacological mechanism.

Objective To include patients with clinical data matched by propensity scores and to explore the value of 18F-fluorode-oxyglucose(18F-FDG)PET/CT metabolic parameters and radiomics in differentiating benign and malignant solitary pulmonary nod-ule(SPN).Methods A total of 54 patients with SPN(27 benign and 27 malignant)were retrospectively selected,all of them under-went 18F-FDG PET/CT scans.Then the metabolic parameters were analyzed,and the metabolic parameters model was established.After delineating the lesion,imaging features were selected through variance and correlation analysis.The logistic regression was used to build the model,and balance accuracy(bACC)was used to compare the performance of the models.The correlation between meta-bolic parameters and radiomics features was analyzed.Results The maximum standardized uptake value(SUVmax),total lesion uptake(TLU),and coefficient of variation(COV)of malignant were higher than those of benign(P＜0.05).SUVmax and COV had positive predictive value for malignant lesions[odds ratio(OR)＞1,P＜0.05].There was no statistical difference between the performance of the metabolic parameters model and the radiomics model(P＞0.05).There was a strong correlation between radiomics features and metabolic parameters.Conclusion After propensity score matching,metabolic parameters and radiomics show no statistical difference in differentiating benign from malignant SPN.

BACKGROUND:The pelvis has abundant trabecular bone content,but the ability of conventional sacroiliac percutaneous fixation to control trabecular bone is limited,leading to fixation failure.Therefore,the development of devices that can more effectively control trabecular bone tension is of significant importance.OBJECTIVE:The mechanical properties of a novel sacroiliac tension screw were investigated using biomechanical testing and numerical modeling analysis,along with an assessment of the reliability of the pull-out force numerical model.METHODS:A mechanical model was established based on the working principle of the novel sacroiliac tension screw.Numerical methods were employed to analyze its pull-out performance,validated through mechanical testing with polyurethane material to assess the reliability of the pull-out force numerical model.Using pelvic specimens,the mechanical effectiveness of the novel sacroiliac tension screw in repairing sacroiliac joint injuries was analyzed under normal standing posture,along with an evaluation of the load stiffness of different pelvic models in the standing position.RESULTS AND CONCLUSION:(1)The average error between the computed values of the numerical model and the measured values was 13.19％,indicating a certain level of validity for the numerical model.(2)The damage to the polyurethane material after the extraction of the screw was less pronounced in the novel screw group.(3)The average effective holding displacement for the novel screw was approximately(9.24±0.27)mm,significantly greater than the average displacement of(1.71±0.57)mm observed with the lag screws.However,the maximum resistance to pullout for the lag screws was significantly higher than that for the novel screws.(4)The novel screw effectively repaired sacroiliac joint injuries.(5)The stiffness after repair of sacroiliac joint injuries was equivalent when using a single novel screw compared to using two lag screws.(6)These results prove that the theoretical model for the maximum resistance to pullout of the screws established in this study has a certain level of validity and can guide the design of them with improved mechanical performance.The novel sacroiliac spiral blade screw can effectively hold trabecular bone and has practical clinical utility.

Objective To investigate the effect and mechanism of benserazide on bleomycin-induced pulmonary fibrosis in mice.Methods Male C57BL/6 mice were randomly divided into normal control group,model control group,pirfenidone group(50 mg·kg-1),and low-dose and high-dose benserazide groups(300 and 600 mg·kg-1),with 6 mice in each group.Except for normal control group,the other groups were given bleomycin(3.5 mg·kg-1)by non-invasive tracheal instillation to establish a mouse model of pulmonary fibrosis.Seven days after modeling,pirfenidone group and low-dose and high-dose benserazide groups were intragastrically administered the corresponding doses of drugs for 14 consecutive days.After the drug administration,the mice in each group were sacrificed.The pathological morphology of the lung tissue in each group was observed by hematoxylin-eosin(HE)staining and Masson staining.The content of hydroxyproline(HYP)in the lung tissue of mice,the content of lactic acid in the lung tissue and serum,and the activity of hexokinase(HK)in the lung tissue were detected by using kits.The expression levels of Collagen I and Fibronectin in the lung tissue of mice in each group were detected by immunohistochemistry.The expression levels of α-SMA,TGF-β1,Smad2,p-Smad2,TNF-α and IL-6 proteins in the lung tissue of mice in each group were detected by Western blotting.Results Compared with normal control group,the lung tissue structure of model control group mice was damaged,with thickened alveolar septa and fibrotic changes such as collagen accumulation.The content of HYP and lactic acid and the activity of HK in the lung tissue increased significantly,and the expression levels of Collagen I,Fibronectin,α-SMA,TGF-β1,Smad2,p-Smad2,TNF-α,and IL-6 proteins were significantly increased.Compared with model control group,treatment with benserazide significantly alleviated the pathological damage of lung tissue in mice,significantly reduced the content of HYP,lactic acid and HK activity in lung tissue,and significantly decreased the expression levels of Collagen I,Fibronectin,α-SMA,TGF-β1,Smad2,p-Smad2,TNF-α and IL-6 proteins.Conclusion Benserazide ameliorates bleomycin-induced pulmonary fibrosis in mice by modulating the HK2-mediated glycolysis pathway.

Objective To observe the dynamic changes of molecules related to the Nrf2/Keap1/p62 signaling pathway in patients with postoperative pulmonary inflammation after thoracic surgery,and explore its relationship with prognosis.Methods Sixty patients with postoperative pneumonia after thoracic surgery who met the criteria in the Department of Thoracic Surgery of Taihe County Hospital of Traditional Chinese Medicine from June 2023 to June 2024 were selected as the research subjects.Venous blood was collected from the pa-tients on the day before surgery,the first day after surgery,the third day after surgery,and the seventh day after surgery to detect the lev-els of superoxide dismutase(SOD),nitric oxide(NO),malondialdehyde(MDA),reactive oxygen species(ROS)in peripheral blood,as well as the expression of Nrf2,Keap1,and p62 mRNA.The correlations between these indicators and the prognosis of postoperative pulmonary infection after thoracic surgery were analyzed.Results The SOD level of the patients decreased after the operation compared with that before the operation,reaching the lowest value on the first day after the operation.The levels of MDA and ROS increased after the operation,but slowly decreased on the seventh day after the operation.There was no significant change in the NO level compared with that before the operation.Compared with before the operation,the expression levels of Nrf2 and Keap1 in the patients decreased signifi-cantly on the first day after the operation,and then slowly increased.The expression level of p62 increased to the peak on the first day af-ter the operation,and then decreased.The results of lung function index measurement showed that the patients had pulmonary infection af-ter the operation,and the lung function level decreased significantly compared with that before the operation.Through ROC curve analy-sis,the dynamic changes of SOD,ROS,Nrf2,Keap1 and p62 in the patients with pulmonary inflammation after thoracic surgery have good predictive value for prognosis.Conclusion The changes of Nrf2/Keap1/p62 signaling pathway-related factors in patients with post-thoracic surgery-induced pulmonary inflammation are significantly correlated with the prognosis of these patients.Such changes can effectively predict the prognosis of patients from the perspective of the expression levels of related genes.