OBJECTIVE: Chromosome conformation-based karyotype analysis (C-MoKa) technology was used to test a couple who had experienced multiple adverse pregnancies in order to provide them with genetic counseling and reproductive guidance. METHODS: A couple presented at the Reproductive Medicine Center of the First Hospital of Lanzhou University in 2023 was selected as the study subject. Through C-MoKa testing, copy number variation sequencing (CNV-seq), and preimplantation genetic testing for aneuploidy (PGT-A), it was found that the couple's repeatedly miscarried fetuses and abnormal embryos exhibited highly similar chromosomal structural abnormalities. Using C-MoKa, the potential genetic abnormalities in both partners were traced, and reproductive guidance was provided based on the result. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: LDYYSZLLKH2025-09). RESULTS: CNV-seq analysis of the couple's miscarriage fetal chorionic villi showed del(18)(q21.2q23)(28.90 Mb) and dup(13)(q31.2q34)(26.26 Mb). Chromosomal karyotyping analysis of both partners showed no abnormality. From 2024 to 2025, the couple underwent three rounds of PGT-A assisted reproduction. The first embryo test showed del(13)(q31.2q34)(26.77 Mb) and dup(18)(q21.2q23)(29.08 Mb). The second embryo test showed dup(13)(q31.2q34)(26.26 Mb) and del(18)(q21.2q23)(28.90 Mb). And the third embryo test results showed complex chromosomal abnormalities. In 2025, after genetic counseling, the couple had opted C-MoKa test, which has detected no abnormality in the wife, but a balanced 46,XY,t(13;18)(q31.2;q21.2) translocation in the husband. CONCLUSION As a high-throughput sequencing method based on the three-dimensional conformation of chromatin, C-MoKa has the advantages of high resolution and high accuracy, and can accurately detect balanced translocations with similar banding patterns. It has therefore offered a powerful new tool for chromosomal analysis.
Female ; Humans ; Male ; Pregnancy ; Abortion, Habitual/genetics* ; DNA Copy Number Variations ; Karyotyping/methods* ; Preimplantation Diagnosis ; Translocation, Genetic

Protein liquid-liquid phase separation (LLPS), a pivotal phenomenon intricately linked to cellular processes, is regulated by various other proteins. However, there is still a lack of high-throughput methods for screening protein regulators of LLPS in target proteins. Here, we developed a CRISPR/Cas9-based screening method to identify protein phase separation regulators by integrating bimolecular fluorescence complementation (BiFC) and fluorescence-activated cell sorting (FACS). Using this newly developed method, we screened the RNA-binding proteins that regulate PABPN1 phase separation and identified the tumor suppressor QKI as a promoter of PABPN1 phase separation. Furthermore, QKI exhibits decreased expression levels and diminished nuclear localization in colorectal cancer cells, resulting in reduced PABPN1 phase separation, which, in turn, promotes alternative polyadenylation (APA), cell proliferation, and migration in colorectal cancer.
Humans ; Colorectal Neoplasms/genetics* ; RNA-Binding Proteins/genetics* ; Poly(A)-Binding Protein I/genetics* ; CRISPR-Cas Systems ; Flow Cytometry ; Cell Proliferation ; Cell Line, Tumor ; Cell Movement

Objective:From the perspective of policy tools,it aimed to explore the policy focuses for promoting the high-quality development of compact county medical communities.Methods:It utilized content analysis method to encode and quantify the policy texts of county medical community.Results:A total of 107 policy documents on the construction of county medical community were screened,and 319 codes were obtained.The classification statistics showed that authoritative tools accounted for 34.80%,persuasive tools accounted for 30.41%,capacity-building tools accounted for 15.99%,system transformation tools accounted for 11.60%,and incentive tools accounted for 7.21%.Conclusion:The policy tools for building county medical communities in China are becoming increasingly diversified,but the strategies for using these tools still need to be strengthened.The government should gradually change the application strategy of authoritative tools and persuasive tools,further strengthen the supervision function of the government,and increase the intensity of policy publicity and guidance.At the same time,policies should strengthen the effective utilization of capacity-building tools,system transformation tools,and incentive tools,so as to establish the long-term mechanism of compact county medical communities,form scientific effective sustainable incentive mechanism,and promote the developmint in healthy,long and sustainable cooperative direction.

The characteristics of chronic kidney disease make treatment and management a major challenge. Wearable devices take clinically warning, dialysis management and decision-making improvement in the management and treatment of chronic kidney disease patients. This article reviews the application status of wearable devices in chronic kidney disease, aiming to optimize disease management programs, reduce disease burden and improve patients' quality of life.

Objective:To develop a popular science educational product aimed at enhancing home-based self-management among peritoneal dialysis (PD) patients.Methods:A preliminary framework for popular science content on home-based self-management for PD patients was constructed based on an evidence summary. Through refinement of the evidence and expert panel discussions, the final educational content was determined and used to produce a popular science video. From June 18 to June 30, 2024, the video was disseminated through both online and offline channels. A questionnaire survey was used to assess the quality of the popular science educational product.Results:The final content framework consisted of four key areas: volume management, nutrition management, exercise management, and management of common problems. A popular science video with a total duration of 5 minutes and 52 seconds was developed. A total of 158 PD patients rated the quality of the popular science educational product with an average score of (83.03±2.01) .Conclusions:The development method of the popular science educational product is scientifically sound, and the content is suitable for dissemination. It provides a practical reference for improving health literacy and self-management ability among home-based PD patients.

The characteristics of chronic kidney disease make treatment and management a major challenge. Wearable devices take clinically warning, dialysis management and decision-making improvement in the management and treatment of chronic kidney disease patients. This article reviews the application status of wearable devices in chronic kidney disease, aiming to optimize disease management programs, reduce disease burden and improve patients' quality of life.

Objective:From the perspective of policy tools,it aimed to explore the policy focuses for promoting the high-quality development of compact county medical communities.Methods:It utilized content analysis method to encode and quantify the policy texts of county medical community.Results:A total of 107 policy documents on the construction of county medical community were screened,and 319 codes were obtained.The classification statistics showed that authoritative tools accounted for 34.80%,persuasive tools accounted for 30.41%,capacity-building tools accounted for 15.99%,system transformation tools accounted for 11.60%,and incentive tools accounted for 7.21%.Conclusion:The policy tools for building county medical communities in China are becoming increasingly diversified,but the strategies for using these tools still need to be strengthened.The government should gradually change the application strategy of authoritative tools and persuasive tools,further strengthen the supervision function of the government,and increase the intensity of policy publicity and guidance.At the same time,policies should strengthen the effective utilization of capacity-building tools,system transformation tools,and incentive tools,so as to establish the long-term mechanism of compact county medical communities,form scientific effective sustainable incentive mechanism,and promote the developmint in healthy,long and sustainable cooperative direction.

Objective:To develop a popular science educational product aimed at enhancing home-based self-management among peritoneal dialysis (PD) patients.Methods:A preliminary framework for popular science content on home-based self-management for PD patients was constructed based on an evidence summary. Through refinement of the evidence and expert panel discussions, the final educational content was determined and used to produce a popular science video. From June 18 to June 30, 2024, the video was disseminated through both online and offline channels. A questionnaire survey was used to assess the quality of the popular science educational product.Results:The final content framework consisted of four key areas: volume management, nutrition management, exercise management, and management of common problems. A popular science video with a total duration of 5 minutes and 52 seconds was developed. A total of 158 PD patients rated the quality of the popular science educational product with an average score of (83.03±2.01) .Conclusions:The development method of the popular science educational product is scientifically sound, and the content is suitable for dissemination. It provides a practical reference for improving health literacy and self-management ability among home-based PD patients.

Objective To analyze the predictive value of fecal form for the quality of bowel preparation in patients scheduled for colonoscopy,identify risk factors for bowel preparation failure,and develop and validate a risk prediction model.Methods This was a prospective cohort study using convenience sampling.Patients scheduled for colonoscopy in the Digestive Department of a tertiary A hospital in Jiangsu Province from June to December 2022 were included in the modeling cohort.General information sheet and the Bristol Stool Form Scale(BSFS)were used for data collection.Patients were categorized into a successful bowel preparation group and a bowel preparation failure group based on the quality of bowel preparation.The optimal cutoff value for BSFS was determined using the best cutoff value method.Logistic regression analysis was employed to identify risk factors for bowel preparation failure,and a nomogram risk prediction model was constructed.Patients undergoing colonoscopy in the same hospital from January to February 2023 were served as the validation cohort.Results The modeling cohort included 569 patients,and the validation cohort included 212 patients,with bowel preparation failure rates of 19.0％and 19.8％,respectively.The risk prediction model formula derived from logistic regression analysis was P=-2.209+0.619 × hospitalized patients+0.635 × age≥65 years-0.710 × previous colonoscopy history+2.031 × BSFS type 1～2.The area under the receiver operating characteristic curve for the model was 0.751,with a sensitivity of 54.6％,a specificity of 85.9％,and the optimal cutoff value was 0.225,corresponding to a risk score of 80 for bowel preparation failure.The Hosmer-Lemeshow test showed x2=4.429,P=0.351.External validation demonstrated an area under the receiver operating characteristic curve of 0.775,indicating good model fit and high predictive value.Conclusion The incidence of bowel preparation failure in colonoscopy patients is relatively high.Patients aged 65 years,hospitalized patients,those with no history of colonoscopy,and those with BSFS type 1～2 are more likely to experience bowel preparation failure.The risk prediction model developed in this study has good predictive performance and can provide a basis for clinical nurses to quickly assess the risk of bowel preparation failure in patients.

Objective To analyze the efficacy and safety of double-ring sandwich procedure in the treatment of acute A-type aortic dissection root.Methods The clinical data of 103 patients with acute A-type aortic dissection treated by double-ring sandwich procedure in our center from October 2020 to May 2023 were retrospectively analyzed to investigate the surgical effect,short-term cardiac structural changes and short-term postoperative complications.Results Needle hemostasis was applied in 11.65％of all patients.The amount of red blood cell transfusion during the perioperative period was(2.95±1.97)U,plasma was(543.68±208.48)ml,and blood platelet was(0.08±0.30)U.The residual aortic regurgitation,cardiac function and pericardial effusion were significantly improved at 2 weeks after operation(P＜0.05).The proportion of residual false lumen in the aortic root was significantly reduced after operation(P＜0.05).The length of hospital stay,duration of intubation,and drainage within 24 hours after surgery were less.The incidence of postoperative short-term complications such as secondary thoracotomy,cerebral infarction,cerebral hemorrhage,hemofiltration,tracheal incision and death was low.Conclusions Double-ring sandwich procedure in the treatment of acute A-type aortic dissection can effectively block the false lumen of aortic root dissection,reduce the risk of aortic intimal avulsion,and the operation is safe and effective.