OBJECTIVE: To explore the application value of artificial intelligence (AI)-assisted chromosomal karyotype analysis in the diagnosis of prenatal chromosomal mosaicism. METHODS: A retrospective analysis was conducted on 172 pregnant women who underwent amniocentesis at the Department of Medical Genetics and Prenatal Diagnosis, the Third Affiliated Hospital of Zhengzhou University between January 2019 and December 2024. All cases whose fetuses were diagnosed with chromosomal mosaicism via karyotype analysis and stratified into two groups based on the analytical software employed: the conventional analysis group (n = 70), which utilized Leica analysis software for karyotype image recognition and cell counting; and the AI-assisted analysis group (n = 102), which utilized AI-assisted software for the same procedures. The clinical performance of AI-assisted karyotype analysis in diagnosing chromosomal mosaicism was comprehensively evaluated by comparing the types of mosaic karyotypes, distribution of mosaic ratios, and verification outcomes of different detection modalities between the two groups. This study was approved by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethics No.: 2024-406-01). RESULTS: No statistically significant difference was observed in baseline characteristics (maternal age, gestational week, and indications for prenatal diagnosis) between the two groups. Regarding the detection efficacy for numerical and structural mosaicisms, no significant difference was found in the detection of numerical mosaicism. However, the conventional analysis group exhibited a significantly higher detection rate of autosomal structural mosaicism compared to the AI-assisted group (11.43% vs. 0.98%, P < 0.05). Numerical mosaicism cases were further verified using copy number variation sequencing (CNV-seq) and/or fluorescence in situ hybridization (FISH). The AI-assisted group demonstrated a significantly lower inconsistency rate (5.56% vs. 20.41%, P < 0.05) compared to the conventional group. For low-proportion (< 10%) chromosomal mosaicism, the AI-assisted group had a significantly lower detection rate (13.25% vs. 29.69%, P < 0.05). Subsequent validation of low-proportion mosaicism by CNV-seq and/or FISH showed a higher consistency rate in the AI-assisted group (81.82% vs. 54.55%), though the difference did not reach statistical significance (P = 0.360). CONCLUSION For the karyotyping analysis of prenatal chromosomal mosaicism, AI-assisted karyotype analysis shows high accuracy and consistency in identifying numerical chromosomal mosaicism, particularly in reducing the detection of low-proportion (< 10%) mosaicism while improving verification accuracy. AI-assisted analysis can significantly improve the detection accuracy of numerical mosaicism and mitigate the risk of misclassification for low-proportion (< 10%) mosaicism, thereby providing more precise clinical evidence for the prenatal diagnosis of chromosomal mosaicisms.
Humans ; Female ; Mosaicism ; Pregnancy ; Karyotyping/methods* ; Artificial Intelligence ; Prenatal Diagnosis/methods* ; Adult ; Retrospective Studies ; Chromosome Disorders/genetics* ; Amniocentesis

ObjectiveTo compare the differences in color， odor， coumarin content and microbial community composition of Angelicae Dahuricae Radix（ADR） during different drying processes， and to explore the correlation between changes in microbial community composition and changes in quality indexes of ADR. MethodsThe fresh ADR was processed at three drying temperatures（50， 70， 100 ℃） by drying and steaming cutting， semi-fresh cutting and drying， fresh cutting and drying， and sulfur fumigation methods. The color values of samples were extracted by Adobe Photoshop 2022 software and subjected to principal component analysis（PCA）， electronic nose was used to identify the odor information of medicinal powders and subjected to loadings analysis， PCA， and linear discriminant analysis（LDA）， and high performance liquid chromatography（HPLC） was used to determine the contents of five coumarins（bergapten， oxypeucedanin， imperatorin， phellopterin， isoimperatorin）. The samples for microbial detection were taken from fresh dried samples， 50 ℃（dried and steamed cut， sulfur fumigated） samples， and 100 ℃（dried and steamed cut） samples when the water content was 50% and 14%， respectively. And the changes of microbial community composition during processing were determined by high-throughput sequencing method. The relationship between the changes of microbial community composition and the changes of odor， color and active component content of ADR during drying process was analyzed by Pearson correlation analysis. ResultsThe color quantification results showed that an increase in drying temperature led to the decrease of brightness value（L）， and the increases of red-green value（a） and yellow-blue value（b）， and the change of processing method had no obvious effect on the color of medicinal materials. The results of odor quantification showed that W1S， W2S， W5S， W2W and W1W sensor were sensitive to the odor changes of ADR and could be used to distinguish ADR decoction pieces from different processing methods. The results of HPLC showed that the coumarin content of ADR decreased with the increase of drying temperature and the delay of processing time， the optimal processing method was drying and steaming cutting method， and the optimal temperature was 50 ℃. High-throughput sequencing results showed that the dominant bacteria in ADR during processing were Achromobacter， Agrobacterium， Nocardioides， Mycobacterium and Enterobacter， the dominant fungi were Coprinopsis， Meyerozyma and Apiotrichum. The results of correlation analysis showed that the quality indexes of ADR were positively correlated with Agrobacterium， Mycobacterium in bacteria， Candida in fungi， and negatively correlated with Bacillus in bacteria. ConclusionThere are significant differences in the color， odor， coumarin content and microbial community composition of ADR in different drying processes， and the best drying method is drying and steaming cutting at 50 ℃. The relative abundance changes of 9 bacterial genera and 4 fungal genera are closely related to the quality formation of ADR during the drying process.

Objective: To investigate the knowledge, attitudes, practices (KAP) and the situation of home blood pressure monitoring (HBPM) among hypertension patients in rural areas of Shanghai Municipality, so as to provide a basis for enhancing blood pressure management in this population. Methods: From June to October 2021, hypertension patients under management in Luodian Town and Luojing Town of rural areas of Shanghai Municipality were selected as survey subjects using a multistage random sampling method. Demographic information, KAP related to hypertension, and HBPM status were collected through questionnaire surveys. Patients were categorized into short disease duration (≤5 years), medium disease duration (6-10 years), and long disease duration (≥11 years) groups. KAP and HBPM status across different disease duration groups were analyzed statistically. Results: A total of 2 894 hypertensive patients were surveyed, including 1 317 (45.51%) males and 1 577 (54.49%) females. The median age was 69.00 (interquartile range, 10.00) years. There were 610 cases with short disease duration, accounting for 21.08%; 629 cases with medium duration, accounting for 21.73%; and 1 655 cases with long duration, accounting for 57.19%. The awareness of "hypertension control measures" was relatively high (97.89%), while awareness of "hypertension complications" was relatively low (71.70%). The adherence rate of "not perceiving difficulty in remembering to take medication on time and in correct doses" was relatively low (78.89%), and the proportion of participants who "walked ≥10 minutes per session at least once in the past 7 days" was relatively high (80.48%). A total of 1 209 cases (41.78%) engaged in HBPM, including 233 cases with short disease duration (19.27%), 252 cases with medium disease duration (20.84%), and 724 cases with long disease duration (59.88%). Compared with long disease duration hypertension patients, those with short disease duration had a alower awareness of "principles of pharmacological treatment for hypertension", a lower adherence rate of "medication should not be stopped after blood pressure control", and a lower proportion of providing their blood pressure measurement results to doctors (all P<0.017). However, they had higher proportions of alcohol consumption and daily salt intake >6 g/d (both P<0.017). Conclusions Short disease duration hypertension patients exhibit poorer performance in hypertension-related KAP and HBPM compared to long disease duration patients in rural areas of Shanghai Municipality. It is recommended to implement tailored health education based on disease duration, promote HBPM, and enhance blood pressure control rate.

The disturbance of the human microbiota influences the occurrence and progression of many diseases. Live therapeutic bacteria, with their genetic manipulability, anaerobic tendencies, and immunomodulatory properties, are emerging as promising therapeutic agents. However, their clinical applications face challenges in maintaining activity and achieving precise spatiotemporal release, particularly in the harsh gastrointestinal environment. This review highlights the innovative bacterial functionalized encapsulation strategies developed through advances in physicochemical and biological techniques. We comprehensively review how bacterial encapsulation strategies can be used to provide physical barriers and enhanced adhesion properties to live microorganisms, while introducing superior material properties to live bacteria. In addition, this review outlines how bacterial surface coating can facilitate targeted delivery and precise spatiotemporal release of live bacteria. Furthermore, it elucidates their potential applications for treating different diseases, along with critical perspectives on challenges in clinical translation. This review comprehensively analyzes the connection between functionalized bacterial encapsulation and innovative biomedical applications, providing a theoretical reference for the development of next-generation bacterial therapies.

[Objective]Through visual analysis of the literature on acupuncture treatment of colorectal cancer in the past 25 years,to understand the current status in the field and provide a reference for future development directions.[Methods]With the theme of"colorectal cancer"and"acupuncture",the relevant literature in the field of acupuncture treatment of colorectal cancer from January 1998 to December 2023 in the China National Knowledge Infrastructure(CNKI)were searched.The selected literatures were imported into Zotero software in Refworks format for file review and imported into CiteSpace 6.2.R6 software after data format conversion for visual analysis of authors,institutions,keywords and other information.[Results]A total of 307 relevant literatures were included,and the number of literature generally showed an increasing trend,especially in 2020.A total of 262 core authors emerged from the atlas,with less collaboration between author teams.At present,the main research institutions in this field are various universities of Chinese medicine and their affiliated hospitals,and the inter-institutional cooperation and contact presents a regional nature.Keyword analysis shows that the research hotspots in recent years mainly include auricular point sticking,electroacupuncture,Zusanli,laparoscope,gastrointestinal function,etc.,and future research directions will focus on the field of rehabilitation.[Conclusion]It is necessary to strengthen the cooperation between authors and institutions,enhance cross-regional research cooperation,carry out high-quality basic research and clinical research,and intensify multidisciplinary integration in the research field of acupuncture treatment of colorectal cancer,providing sufficient evidence for the application and promotion.

Objective:To investigate whether intratumoral Gemella haemolysans(G.haemolysans)enhances the efficacy of neoadjuvant chemoimmunotherapy(NACI)in esophageal squamous cell carcinoma(ESCC)-bearing mice and the underlying mechanism.Methods:Twenty-five 4-week-old female C57BL/6 mice were randomized into five groups(n=5 per group):negative control(NC)group,chemo-therapy group,G.haemolysans+chemotherapy group,NACI group,and G.haemolysans+NACI group.A germ-free mouse model was established in each group by administering antibiotic cocktail for 2 weeks.On day 0,ESCC-bearing mouse models were built through subcutaneous inoculation of either murine esophageal cancer cell line AKR or G.haemolysans-AKR cells.On day 7 when tumors formed under the skin,drugs were injected into the abdomen thrice weekly.On day 28 when the treatments were finished,the mice were sacrificed to harvest their tumors,and then the tumors were fixed in 4%paraformaldehyde.We located and quantified G.haemolysans within the tumors through fluorescence in situ hybridization,and characterized immune cell composition in the tumor immune microen-vironment(TIME)of the mice treated with NACI through multiplex immunohistochemistry and flow cytometry.Results:G.haemolysans significantly strengthened the efficacy of NACI in ESCC(P<0.05),whereas no chemosensitizing effects were observed on chemo-therapy in ESCC-bearing mice.G.haemolysans significantly en-hanced natural killer(NK)cell infiltration within the TIME(P<0.01).Conclusion:G.haemolysans improves NACI efficacy in ESCC-bearing mice by increasing NK cell recruitment in the TIME.

Loss of protein homeostasis is a hallmark of cellular senescence, and ribosome pausing plays a crucial role in the collapse of proteostasis. However, our understanding of ribosome pausing in senescent cells remains limited. In this study, we utilized ribosome profiling and G-quadruplex RNA immunoprecipitation sequencing techniques to explore the impact of RNA G-quadruplex (rG4) on the translation efficiency in senescent cells. Our results revealed a reduction in the translation efficiency of rG4-rich genes in senescent cells and demonstrated that rG4 structures within coding sequence can impede translation both in vivo and in vitro. Moreover, we observed a significant increase in the abundance of rG4 structures in senescent cells, and the stabilization of the rG4 structures further exacerbated cellular senescence. Mechanistically, the RNA helicase DHX9 functions as a key regulator of rG4 abundance, and its reduced expression in senescent cells contributing to increased ribosome pausing. Additionally, we also observed an increased abundance of rG4, an imbalance in protein homeostasis, and reduced DHX9 expression in aged mice. In summary, our findings reveal a novel biological role for rG4 and DHX9 in the regulation of translation and proteostasis, which may have implications for delaying cellular senescence and the aging process.
G-Quadruplexes ; Cellular Senescence ; Ribosomes/genetics* ; Humans ; Animals ; Mice ; DEAD-box RNA Helicases/genetics* ; Protein Biosynthesis ; RNA/chemistry* ; Neoplasm Proteins

Objective: To elucidate the potential mechanisms by which Chinese herbal medicine (CHM) regulates gut microbiota (GM) to influence the development of primary open-angle glaucoma (POAG). Methods: Data mining, network pharmacology, and Mendelian randomization (MR) analyses (two-sample design) were conducted in integration to systematically explore the CHM-GM-POAG axis. Literature-based data mining method was applied to identify frequently used herbs and herb pairs for POAG, and the properties and meridian tropism of the herbs were analyzed as well. Target prediction and pathway enrichment analyses were performed to identify shared molecular pathways among CHM components, GM, and POAG. MR analysis was performed to assess the genetically predicted causal associations between specific microbial taxa and POAG risk. Results: Our data mining work indicated that commonly used CHMs were mainly bitter and sweet in flavors and cold in property, with meridian tropism toward the liver, lung, and kidney. The predominant therapeutic effects of the CHMs included soothing the liver and regulating Qi, promoting blood circulation, and reducing fluid retention. Representative herb pairs were Shudihuang (Rehmanniae Radix Praeparata)-Gouqi (Lycii Fructus) with Zexie (Alismatis Rhizoma), Gouqi (Lycii Fructus)-Fuling (Poria) with Shudihuang (Rehmanniae Radix), and Juhua (Chrysanthemi Flos)-Gouqi (Lycii Fructus) with Zexie (Alismatis Rhizoma). Network pharmacology revealed overlapping targets involving antioxidative, anti-inflammatory, and metabolic regulation pathways. MR analysis demonstrated that higher abundances of Ruminiclostridium 6 [odds ratio (OR) = 0.73, 95% confidence interval (CI): 0.58 – 0.92, P = 0.007], Ruminococcaceae UCG-002 (OR = 0.77, 95% CI: 0.63 – 0.96, P = 0.018), Ruminococcus torques group (OR = 0.71, 95% CI: 0.57 – 0.90, P = 0.004), and Victivallis (OR = 0.82, 95% CI: 0.70 – 0.96, P = 0.016) were causally associated with reduced POAG risk, whereas Actinomyces (OR = 1.34, 95% CI: 1.06 – 1.68, P = 0.013) and Blautia (OR = 1.39, 95% CI: 1.01 – 1.90, P = 0.042) showed positive associations. Conclusion This study revealed potential causal links between GM and POAG and provided integrative evidence that CHM may modulate the microbiota to exert neuroprotective effects. These findings offer new integrative insights into the gut-eye axis and a theoretical basis for developing microbiota-targeted CHM strategies in glaucoma management.

Objective:To explore the effect and possible mechanism of Semen euryales mixture(QSHJ)on renal injury in lu-pus nephritis.Methods:The 14-week-old C57BL/6 mice were the control group of 8.The 14-week-old MRL/lpr mice were randomly di-vided into model group,QSHJ low,medium and high doses groups(7.48,14.95,29.90 g/kg),and prednisone group(5 mg/kg)of 8 mice each.The control group and the model group were given the same volume of normal saline by gavage once a day for 4 weeks.Urine was collected to detect urinary protein content.HE and PASM staining were used to observe renal tissue injury.The serum levels of Anti-dsDNA,IL-6 and TNF-α were detected by ELISA.The protein expressions of phosphatidylinositol 3-kinase(PI3K),phosphor-ylated PI3K(p-PI3K),protein kinase B(AKT),phosphorylated AKT(p-AKT),nuclear factor kappa B p65(NF-κB p65)and phos-phorylated NF-κB p65(p-NF-κB p65)were detected by Western blot.The protein expressions of PI3K,p-PI3K,AKT and p-AKT were detected by immunohistochemistry.The positive expression of NF-κB p65 was observed by immunofluorescence.Results:Com-pared with the control group,the urinary protein content in the model group increased significantly(P<0.05),the renal tissue was in-filtrated with inflammatory cells,and the tissue structure was destroyed obviously,the contents of Anti-dsDNA,IL-6 and TNF-α in se-rum were significantly increased(P<0.05),the expressions of p-PI3K/PI3K,p-AKT/AKT and p-NF-κB p65/NF-κB p65 were signifi-cantly increased(P<0.05),the protein expressions of p-PI3K and p-AKT were increased significantly(P<0.05),the positive expres-sion of NF-κB p65 was increased significantly.Compared with the model group,the urinary protein content of QSHJ low,medium and high doses groups and prednisone group decreased significantly(P<0.05),the infiltration of inflammatory cells in renal tissue was re-lieved,and the damage of tissue structure was alleviated.the contents of Anti-dsDNA,IL-6 and TNF-α in serum were significantly de-creased(P<0.05),the expressions of p-PI3K/PI3K,p-AKT/AKT and p-NF-κB p65/NF-κB p65 were significantly decreased(P<0.05),the protein expressions of p-PI3K and p-AKT were significantly decreased(P<0.05),the positive expression of NF-κB p65 flu-orescence was decreased.Conclusion:QSHJ can improve the pathological manifestations of renal tissue in MRL/lpr mice and alleviate the disease process.The mechanism may be related to the inhibition of PI3K-AKT/NF-κB signaling pathway in renal tissue and the re-duction of inflammatory response by QSHJ.

The paper reports a 32-year-old female acute myeloid leukemia patient who developed graft-versus-host disease after paternal hematopoietic stem cell transplantation, which subsequently led to renal thrombotic microangiopathy. She subsequently required a kidney transplant from the same donor 5 years later due to renal failure. Considering that both the bone marrow and kidney were from the same donor and the recovery of renal function was favorable, immunosuppressive therapy was discontinued after a short course of anti-rejection treatment, with maintained stable kidney function. This case suggests that under the condition of high chimerism, allogeneic hematopoietic stem cell transplantation and kidney transplantation from the same donor can achieve immune tolerance, potentially improving solid organ transplantation success rate. The findings provide a novel therapeutic approach for solid organ transplantation following allogeneic hematopoietic stem cell transplantation.