1.Incidental findings from cell-free fetal DNA-based non-invasive prenatal testing: Research progress on maternal tumors.
Zhuangping ZHANG ; Xinni SHU ; Yaping HOU
Chinese Journal of Medical Genetics 2026;43(4):301-306
Non-invasive prenatal testing (NIPT) based on fetal free DNA is a non-invasive technique to screen for common fetal aneuploidies by analyzing cell-free fetal DNA (cffDNA) in the peripheral blood of pregnant women. This technique has opened a new era of prenatal screening for its high safety and reliability. In recent years, it has been shown that NIPT can not only screen for fetal aneuploidies, but may also reveal maternal genomic abnormalities. The incidental detection of maternal tumors has aroused widespread concern in the clinical settings. The aim of this review is to systematically summarize the research progress of NIPT technique in incidental detection of maternal tumors, and to discuss its clinical significance, technical challenges, and future development direction. It has been found that multiple chromosome aneuploidies (MCAs) in NIPT detection is one of the important biomarkers suggesting occult maternal malignant tumors. In this paper, the relevant progress of NIPT technique in the incidental discovery of maternal tumors were reviewed in order to provide a reference for individualized and standardized application of NIPT technique in maternal health monitoring.
Humans
;
Female
;
Pregnancy
;
Cell-Free Nucleic Acids/blood*
;
Prenatal Diagnosis/methods*
;
Incidental Findings
;
Neoplasms/genetics*
;
Noninvasive Prenatal Testing/methods*
;
Aneuploidy
;
Fetus/metabolism*
2.Effects of SPBC1604.04 Gene Deletion on Mitotic Cell Dynamics in Schizosaccharomyces pombe
Jia-Ni XU ; Jia-Yi HE ; Lang-Lin ZHENG ; Shu-Rong HE ; Shuai MA ; Xiang DING ; Yi-Ling HOU
Progress in Biochemistry and Biophysics 2026;53(5):1471-1484
ObjectiveMitochondria are not only the central organelles responsible for cellular energy metabolism but also play essential roles in regulating cell cycle progression and cytoskeletal dynamics. In recent years, accumulating evidence has demonstrated that mitochondrial homeostasis is closely associated with mitotic progression and cytokinesis. Schizosaccharomyces pombe serves as a classical and well-established model organism. Because its cell cycle regulatory mechanisms are highly conserved throughout evolution, its genetic background is clearly defined, and experimental manipulation is efficient and convenient, it has been extensively applied in studies of cell growth, division, and reproductive mechanisms. The SPBC1604.04 gene encodes a previously uncharacterized mitochondrial carrier protein in Schizosaccharomyces pombe. This gene is located on chromosome II and spans 1 018 base pairs in length. It encodes a protein consisting of 238 amino acids with a predicted molecular mass of approximately 31.03 ku. Bioinformatic analysis predicts that this protein is responsible for the transport of thiamine pyrophosphate (TPP) into mitochondria. However, the effects of SPBC1604.04 gene deletion on mitotic cell dynamics under different temperature conditions have not been fully elucidated. MethodsThe SPBC1604.04 deletion strain of Schizosaccharomyces pombe was used as the experimental model. Fluorescent protein markers were constructed in the deletion background to label mitochondria, microtubules, actin, myosin, the nuclear envelope, and chromosomes. Live-cell imaging was performed using a TCS-SP8 laser scanning confocal microscope under normal temperature conditions (25℃) and heat stress conditions (37℃). Time-lapse microscopy was applied to dynamically monitor mitochondrial morphology and distribution, spindle assembly and elongation, chromosome segregation, as well as the formation and constriction of the actomyosin ring during cytokinesis. ImageJ software was used for quantitative measurements, including microtubule length during mitosis, spindle length at different mitotic stages, mitochondrial fluorescence intensity as an indicator of mitochondrial content, actomyosin ring length, nuclear envelope area, and chromosome segregation timing. Statistical analyses were conducted to compare phenotypic differences between the wild-type and SPBC1604.04 deletion strains at both temperature conditions. Through these analyses, we systematically investigated the impact of SPBC1604.04 deletion on mitotic cell dynamics in fission yeast under both normal physiological conditions and temperature stress. ResultsAt 25℃, compared with wild-type cells, the SPBC1604.04Δ strain exhibited a pronounced tendency toward mitochondrial fragmentation, accompanied by abnormal mitochondrial content and a significant reduction in mitochondrial fluorescence intensity. These observations suggest impaired mitochondrial homeostasis under normal growth conditions. In addition, the constriction time of actomyosin ring during cytokinesis was markedly prolonged, indicating that deletion of SPBC1604.04 affects the dynamics of the contractile machinery. However, no obvious defects were observed in spindle assembly, spindle elongation, or chromosome segregation. Under heat stress at 37℃, mitochondrial morphology in the SPBC1604.04Δ strain showed a tendency to recover toward a continuous tubular network structure. Mitochondrial content was restored, fluorescence intensity increased, and the constriction time of the actomyosin ring returned to levels comparable to those of wild-type cells. These results indicate that the mitotic defects observed at normal temperature are partially or fully alleviated under heat stress conditions. ConclusionThis study demonstrates that deletion of the SPBC1604.04 gene leads to abnormal mitochondrial content in Schizosaccharomyces pombe. The mitochondrial carrier protein SPBC1604.04 participates in regulating actomyosin ring constriction during mitosis but does not appear to be directly involved in the regulation of spindle dynamics or chromosome segregation. Our findings provide key experimental evidence for understanding the functional link between the SPBC1604.04 gene, mitochondrial homeostasis, and mitotic regulation.
3.Effects of SPBC1604.04 Gene Deletion on Mitotic Cell Dynamics in Schizosaccharomyces pombe
Jia-Ni XU ; Jia-Yi HE ; Lang-Lin ZHENG ; Shu-Rong HE ; Shuai MA ; Xiang DING ; Yi-Ling HOU
Progress in Biochemistry and Biophysics 2026;53(5):1471-1484
ObjectiveMitochondria are not only the central organelles responsible for cellular energy metabolism but also play essential roles in regulating cell cycle progression and cytoskeletal dynamics. In recent years, accumulating evidence has demonstrated that mitochondrial homeostasis is closely associated with mitotic progression and cytokinesis. Schizosaccharomyces pombe serves as a classical and well-established model organism. Because its cell cycle regulatory mechanisms are highly conserved throughout evolution, its genetic background is clearly defined, and experimental manipulation is efficient and convenient, it has been extensively applied in studies of cell growth, division, and reproductive mechanisms. The SPBC1604.04 gene encodes a previously uncharacterized mitochondrial carrier protein in Schizosaccharomyces pombe. This gene is located on chromosome II and spans 1 018 base pairs in length. It encodes a protein consisting of 238 amino acids with a predicted molecular mass of approximately 31.03 ku. Bioinformatic analysis predicts that this protein is responsible for the transport of thiamine pyrophosphate (TPP) into mitochondria. However, the effects of SPBC1604.04 gene deletion on mitotic cell dynamics under different temperature conditions have not been fully elucidated. MethodsThe SPBC1604.04 deletion strain of Schizosaccharomyces pombe was used as the experimental model. Fluorescent protein markers were constructed in the deletion background to label mitochondria, microtubules, actin, myosin, the nuclear envelope, and chromosomes. Live-cell imaging was performed using a TCS-SP8 laser scanning confocal microscope under normal temperature conditions (25℃) and heat stress conditions (37℃). Time-lapse microscopy was applied to dynamically monitor mitochondrial morphology and distribution, spindle assembly and elongation, chromosome segregation, as well as the formation and constriction of the actomyosin ring during cytokinesis. ImageJ software was used for quantitative measurements, including microtubule length during mitosis, spindle length at different mitotic stages, mitochondrial fluorescence intensity as an indicator of mitochondrial content, actomyosin ring length, nuclear envelope area, and chromosome segregation timing. Statistical analyses were conducted to compare phenotypic differences between the wild-type and SPBC1604.04 deletion strains at both temperature conditions. Through these analyses, we systematically investigated the impact of SPBC1604.04 deletion on mitotic cell dynamics in fission yeast under both normal physiological conditions and temperature stress. ResultsAt 25℃, compared with wild-type cells, the SPBC1604.04Δ strain exhibited a pronounced tendency toward mitochondrial fragmentation, accompanied by abnormal mitochondrial content and a significant reduction in mitochondrial fluorescence intensity. These observations suggest impaired mitochondrial homeostasis under normal growth conditions. In addition, the constriction time of actomyosin ring during cytokinesis was markedly prolonged, indicating that deletion of SPBC1604.04 affects the dynamics of the contractile machinery. However, no obvious defects were observed in spindle assembly, spindle elongation, or chromosome segregation. Under heat stress at 37℃, mitochondrial morphology in the SPBC1604.04Δ strain showed a tendency to recover toward a continuous tubular network structure. Mitochondrial content was restored, fluorescence intensity increased, and the constriction time of the actomyosin ring returned to levels comparable to those of wild-type cells. These results indicate that the mitotic defects observed at normal temperature are partially or fully alleviated under heat stress conditions. ConclusionThis study demonstrates that deletion of the SPBC1604.04 gene leads to abnormal mitochondrial content in Schizosaccharomyces pombe. The mitochondrial carrier protein SPBC1604.04 participates in regulating actomyosin ring constriction during mitosis but does not appear to be directly involved in the regulation of spindle dynamics or chromosome segregation. Our findings provide key experimental evidence for understanding the functional link between the SPBC1604.04 gene, mitochondrial homeostasis, and mitotic regulation.
4.The application value of deep learning image reconstruction algorithm in ultra-low dose abdominal CT scanning
Xing TANG ; Yuncheng LI ; Hongmin SHU ; Weishu HOU ; Jun WANG ; Xiaohu LI
Acta Universitatis Medicinalis Anhui 2026;61(4):758-762
ObjectiveTo evaluate the feasibility of various strength levels of deep learning image reconstruction (DLIR) algorithms for improving non-contrast abdominal CT image quality at ultra-low radiation doses, by comparing ultra-low-dose DLIR images with low-dose filtered back projection (FBP) images. MethodsA prospective collection of 85 patients undergoing non-contrast abdominal CT scans was performed, and a self-controlled study method was employed to conduct low-dose (LD) group and ultra-low-dose (ULD) group scans. The LD group used a noise index of 10 and employed FBP for image reconstruction (LD-FBP group). The ULD group used a noise index of 30 and employed DLIR at different levels (low, medium, high), resulting in three subgroups of reconstructed images: ULD-DLIR-L, ULD-DLIR-M, and ULD-DLIR-H. For each group, CT values, standard devia-tion (SD), signal-to-noise ratio (SNR), and contrast-to-noise ratio (CNR) were measured and calculated for the liver, spleen, kidneys, aorta, psoas major, and subcutaneous fat. Effective dose (ED) was also recorded. Two radiologists independently performed subjective evaluations of image quality using a 5-point scale. ResultsCompared with the LD-FBP group, the ULD-DLIR-L group showed significantly lower SNR and CNR values in the liver, spleen, kidneys, aorta, and psoas major (P<0.001), while the ULD-DLIR-H group exhibited significantly higher values (P<0.001). The difference of SNR and CNR values for the ULD-DLIR-M group showed no statistically significant difference. For subjective evaluation, the scores of the ULD-DLIR-L and ULD-DLIR-M groups were lower than those of the LD-FBP group, while there was no statistically significant difference in scores between the ULD-DLIR-H group and the LD-FBP group. The ED value of the ULD group was approximately 88% lower than that of the LD group. ConclusionCompared with the LD-FBP group, the ULD-DLIR-H group significantly reduces SD values while increasing SNR and CNR values, effectively improving the image quality of non-contrast abdominal CT scans.
5.Research progress of Faricimab in the treatment of macular edema associated with retinal vascular diseases
Xinyi HOU ; Haoran WANG ; Chunhua DAI ; Jing ZHANG ; Meng XIN ; Zhixin GUAN ; Shu LIU
International Eye Science 2025;25(8):1267-1273
Intravitreal injection of anti-vascular endothelial growth factor(VEGF)agents has become the primary treatment for macular edema associated with retinal vascular disease such as diabetic retinopathy and retinal vein occlusion, but there are limitations such as variable treatment efficacy and insufficient durability of therapeutic effects. As the first bispecific antibody applied in ophthalmic treatment, Faricimab achieves favorable outcomes by simultaneously targeting both VEGF-A and angiopoietin-2(Ang-2)pathways. Based on evidence from recent clinical trials and real-world studies, this article reviews the research progress on Faricimab for the treatment of diabetic macular edema(DME), retinal vein occlusion-associated macular edema(RVO-ME)and refractory macular edema compared to the therapeutic effects of other agents. Additionally, based on Faricimab's safety characteristics and future potential, its therapeutic prospects for macular edema associated with retinal vascular diseases are discussed. This review aims to provide evidence-based references for optimizing clinical treatment strategies, thereby contributing to mitigating the risk of vision loss due to macular edema.
6.Association of plasma 8-hydroxy-2′-deoxyguanosine with left ventricular diastolic dysfunction in asymptomatic patients with type 2 diabetes
Hongjuan YANG ; Hong SHU ; Qian HOU ; Ying WANG ; Lichan TAO
Chinese Journal of Cardiology 2025;53(6):666-674
Objective:To explore the predictive value of mitochondrial oxidative stress biomarkers 8-hydroxy-2′-deoxyguanosine (8-OHdG) and mitochondrial DNA (mtDNA) copy number in asymptomatic type 2 diabetes mellitus (T2DM) patient with left ventricular diastolic dysfunction.Methods:This was a cross-sectional study. T2DM patients without cardiovascular symptoms who were admitted to the Department of Endocrinology, the Third Affiliated Hospital of Soochow University between April 2018 and May 2022 were enrolled. According to the HFA-PEFF score, the enrolled patients were divided into three groups: the T2DM group (HFA-PEFF score ≤1), the left ventricular diastolic dysfunction suspected positive group (HFA-PEFF score 2-4), and the left ventricular diastolic dysfunction positive group (HFA-PEFF score ≥5). Multivariate logistic regression was performed to evaluate the association of plasma 8-OHdG level and mtDNA copy number with left ventricular diastolic dysfunction in patients with T2DM. Receiver operating characteristic curves were constructed to evaluate the predictive ability of plasma 8-OHdG level and its combination with baseline clinical data for left ventricular diastolic dysfunction in T2DM patients, and stratified analysis was performed by sex, age, diabetes duration and hemoglobin A1c levels.Results:A total of 163 T2DM patients without cardiovascular symptoms, aged (54.0±8.7) years, including 93 males (57.1%), were enrolled. Compared with T2DM group, patients in left ventricular diastolic dysfunction suspected positive and positive groups (44.59 (27.72, 55.58) μg/L vs. 93.23 (59.58, 129.80) μg/L vs. 101.91 (71.39, 137.39) μg/L, P<0.05) had significantly higher plasma 8-OHdG levels, while mtDNA copy number showed no statistically significant differences among the three groups (both P>0.05). Multivariate logistic regression analysis showed that after adjusting for confounder factors, elevated plasma 8-OHdG level were independently associated with both suspected positive left ventricular diastolic dysfunction ( OR=1.036, 95% CI 1.019-1.053, P<0.001) and positive left ventricular diastolic dysfunction ( OR=1.035, 95% CI 1.018-1.053, P<0.001). mtDNA copy number showed no significant association with T2DM accompanied by left ventricular diastolic dysfunction ( P>0.05). Stratified analysis indicated that elevated plasma 8-OHdG level was significantly associated with left ventricular diastolic dysfunction in different age, sex, diabetes course and hemoglobin A1c levels subgroups (all P<0.05). The receiver operating characteristic curves indicated that the combination of baseline clinical data with 8-OhdG level ( AUC=0.871, 95% CI 0.814-0.928, P<0.001) is more effective in predicting asymptomatic left ventricular diastolic dysfunction in T2DM patients than 8-OHdG ( AUC=0.783, 95% CI 0.704-0.861, P<0.001) or baseline clinical data ( AUC=0.736, 95% CI 0.647-0.826, P=0.001) alone. Conclusion:The mitochondrial oxidative stress biomarker 8-OHdG combined with baseline clinical data has good predictive value for asymptomatic left ventricular diastolic dysfunction in T2DM patients, and is expected to be a biomarker to identify diabetes mellitus with asymptomatic diastolic dysfunction.
7.Study on accumulation of polysaccharide and steroid components in Polyporus umbellatus infected by Armillaria spp.
Ming-shu YANG ; Yi-fei YIN ; Juan CHEN ; Bing LI ; Meng-yan HOU ; Chun-yan LENG ; Yong-mei XING ; Shun-xing GUO
Acta Pharmaceutica Sinica 2025;60(1):232-238
In view of the few studies on the influence of
8.Establishment and evaluation of a machine learning prediction model for sepsis-related encephalopathy in the elderly.
Xiao YUE ; Yiwen WANG ; Zhifang LI ; Lei WANG ; Li HUANG ; Shuo WANG ; Yiming HOU ; Shu ZHANG ; Zhengbin WANG
Chinese Critical Care Medicine 2025;37(10):937-943
OBJECTIVE:
To construct machine learning prediction model for sepsis-associated encephalopathy (SAE), and analyze the application value of the model on early identification of SAE risk in elderly septic patients.
METHODS:
Patients aged over 60 years with a primary diagnosis of sepsis admitted to intensive care unit (ICU) from 2008 to 2023 were selected from Medical Information Mart for Intensive Care-IV 2.2 (MIMIC-IV 2.2). Demographic variables, disease severity scores, comorbidities, interventions, laboratory indicators, and hospitalization details were collected. Key factors associated with SAE were identified using univariate Logistic regression analysis. The data were randomly divided into training and validation sets in a 7 : 3 ratio. Multivariable Logistic regression analysis was conducted in the training set and visualized using a nomogram model for prediction of SAE. The discrimination of the model was evaluated in the validation set using the receiver operator characteristic curve (ROC curve), and its calibration was assessed using calibration curve. Furthermore, multiple machine learning algorithms, including multi-layer perceptron (MLP), support vector machine (SVM), naive bayes (NB), gradient boosting machine (GBM), random forest (RF), and extreme gradient boosting (XGB), were constructed in the training set. Their predictive performance was subsequently evaluated on the validation set. Taking the XGB model as an example, the interpretability of the model through the SHapley Additive exPlanations (SHAP) algorithm was enhanced to identify the key predictive factors and their contributions.
RESULTS:
A total of 2 204 septic patients were finally enrolled, of whom 840 developed SAE (38.1%). A total of 21 variables associated with SAE were screened through univariate Logistic regression analysis. Multivariable Logistic regression analysis showed that endotracheal intubation [odds ratio (OR) = 0.40, 95% confidence interval (95%CI) was 0.19-0.88, P < 0.001], oxygen therapy (OR = 0.76, 95%CI was 0.53-0.95, P = 0.023), tracheotomy (OR = 0.20, 95%CI was 0.07-0.53, P < 0.001), continuous renal replacement therapy (CRRT; OR = 0.32, 95%CI was 0.15-0.70, P < 0.001), cerebrovascular disease (OR = 0.31, 95%CI was 0.16-0.60, P < 0.001), rheumatic disease (OR = 0.44, 95%CI was 0.19-0.99, P < 0.001), male (OR = 0.68, 95%CI was 0.54-0.86, P = 0.001), and maximum anion gap (AG; OR = 0.95, 95%CI was 0.93-0.97, P < 0.001) were associated with an decreased probability of SAE, and age (OR = 1.05, 95%CI was 1.03-1.06, P < 0.001), acute physiology score III (APSIII; OR = 1.02, 95%CI was 1.01-1.02, P < 0.001), Oxford acute severity of illness score (OASIS; OR = 1.04, 95%CI was 1.03-1.06, P < 0.001), and length of hospital stay (OR = 1.01, 95%CI was 1.01-1.02, P < 0.001) were associated with an increased probability of SAE. A nomogram model was constructed based on these variables. In the validation set, ROC curve analysis showed that the model achieved an area under the ROC curve (AUC) of 0.723, and the calibration curve showed good consistency between the predicted probability of the model and the observed probability. Among the machine learning algorithms, including MLP, SVM, NB, GBM, RF, and XGB, the SVM model and RF model demonstrated relatively good predictive performance, with AUC of 0.748 and 0.739, respectively, and the sensitivity was both exceeding 85%. The predictive performance of the XGB model was explained through SHAP analysis, and the results indicated that APSIII score (SHAP value was 0.871), age (SHAP value was 0.521), and OASIS score (SHAP value was 0.443) were important factors affecting the predictive performance of the model.
CONCLUSIONS
The machine learning-based SAE prediction model exhibits good predictive capability and holds significant application value for the early identification of SAE risk in elderly septic patients.
Humans
;
Machine Learning
;
Aged
;
Sepsis-Associated Encephalopathy
;
Sepsis/complications*
;
Intensive Care Units
;
Logistic Models
;
Middle Aged
;
Male
;
ROC Curve
;
Female
;
Bayes Theorem
;
Nomograms
;
Support Vector Machine
;
Algorithms
9.International clinical practice guideline on the use of traditional Chinese medicine for functional dyspepsia (2025).
Sheng-Sheng ZHANG ; Lu-Qing ZHAO ; Xiao-Hua HOU ; Zhao-Xiang BIAN ; Jian-Hua ZHENG ; Hai-He TIAN ; Guan-Hu YANG ; Won-Sook HONG ; Yu-Ying HE ; Li LIU ; Hong SHEN ; Yan-Ping LI ; Sheng XIE ; Jin SHU ; Bin-Fang ZENG ; Jun-Xiang LI ; Zhen LIU ; Zheng-Hua XIAO ; Jing-Dong XIAO ; Pei-Yong ZHENG ; Shao-Gang HUANG ; Sheng-Liang CHEN ; Gui-Jun FEI
Journal of Integrative Medicine 2025;23(5):502-518
Functional dyspepsia (FD), characterized by persistent or recurrent dyspeptic symptoms without identifiable organic, systemic or metabolic causes, is an increasingly recognized global health issue. The objective of this guideline is to equip clinicians and nursing professionals with evidence-based strategies for the management and treatment of adult patients with FD using traditional Chinese medicine (TCM). The Guideline Development Group consulted existing TCM consensus documents on FD and convened a panel of 35 clinicians to generate initial clinical queries. To address these queries, a systematic literature search was conducted across PubMed, EMBASE, the Cochrane Library, China National Knowledge Infrastructure (CNKI), VIP Database, China Biology Medicine (SinoMed) Database, Wanfang Database, Traditional Medicine Research Data Expanded (TMRDE), and the Traditional Chinese Medical Literature Analysis and Retrieval System (TCMLARS). The evidence from the literature was critically appraised using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) approach. The strength of the recommendations was ascertained through a consensus-building process involving TCM and allopathic medicine experts, methodologists, pharmacologists, nursing specialists, and health economists, leveraging their collective expertise and empirical knowledge. The guideline comprises a total of 43 evidence-informed recommendations that span a range of clinical aspects, including the pathogenesis according to TCM, diagnostic approaches, therapeutic interventions, efficacy assessments, and prognostic considerations. Please cite this article as: Zhang SS, Zhao LQ, Hou XH, Bian ZX, Zheng JH, Tian HH, Yang GH, Hong WS, He YY, Liu L, Shen H, Li YP, Xie S, Shu J, Zeng BF, Li JX, Liu Z, Xiao ZH, Xiao JD, Zheng PY, Huang SG, Chen SL, Fei GJ. International clinical practice guideline on the use of traditional Chinese medicine for functional dyspepsia (2025). J Integr Med. 2025; 23(5):502-518.
Dyspepsia/drug therapy*
;
Humans
;
Medicine, Chinese Traditional/methods*
;
Practice Guidelines as Topic
;
Drugs, Chinese Herbal/therapeutic use*

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