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

ObjectiveTo establish a narrative nursing program for patients with advanced liver cancer based on the framework of Snyder’s hope theory， and verify its effectiveness. MethodsThe Johns Hopkins evidence-based nursing model and the Delphi method were employed to construct the narrative nursing program for patients with advanced liver cancer. Utilizing the convenience sampling method， 70 patients with advanced liver cancer hospitalized in the department of hepatobiliary surgery from May 2024 to May 2025 were selected and divided into the control group and the intervention group using the random number table method， with 35 patients in each group. The control group received routine nursing care， while the intervention group received the narrative nursing program based on Snyder’s hope theory for patients with advanced liver cancer. The Herth Hope Index， Connor-Davidson Resilience Scale （CD-RISC）， Self-Rating Anxiety Scale （SAS）， and Morisky Medication Adherence Scale-8 （MMAS-8） were used to compare the hope level， psychological resilience， anxiety， and medication adherence between the two groups before and after the intervention. Furthermore， nursing satisfaction was also compared. ResultsThe Delphi expert consultation results demonstrated high consistency among expert opinions， with an expert positive coefficient of 100%. Meanwhile， the authority coefficients （0.902， 0.912） and Kendall’s concordance coefficients （0.260， 0.283） were all satisfactory. Ultimately， a narrative nursing program was established， consisting of 3 primary indicators， 10 secondary indicators， and 19 tertiary indicators. Compared with the control group， the intervention group exhibited significant improvements in scores of the three dimensions regarding the hope level， the total score of psychological resilience， medication adherence， and nursing satisfaction after the intervention， and the anxiety score was markedly reduced. All differences were statistically significant （P<0.05）. ConclusionThe narrative nursing program for patients with advanced liver cancer developed in this study is scientific and reliable. Its clinical application can effectively improve the psychological status and treatment behaviors of patients with advanced liver cancer， profoundly reflect the ethical care for the humanistic needs of patients， and provide an evidence-based basis for optimizing the psychological support for this population.

Objective:To investigate predictive value of dynamic electrocardiogram heart rate variability(HRV)combined with three-dimensional spot tracking echocardiography(3D-STE)for postoperatively major adverse cardiovascular events(MACE)in patients with coronary heart disease(CHD).Methods:The clinical data of 80 CHD patients,who underwent percutaneous coronary intervention(PCI)treatment at Beijing Rehabilitation Hospital affiliated with Capital Medical University from January 2022 to December 2023,were retrospectively collected.All patients underwent dynamic electrocardiogram HRV and 3D-STE examination before surgery,and 1-year follow-up.The condition of occurring MACE during the follow-up period was analyzed as statistical method,and the patients were divided into occurrence group(21 cases)and non-occurrence group(59 cases).The relevant parameters of dynamic electrocardiogram HRV and 3D-STE examination of occurring MACE of CHD patients between two groups were compared,and the predictive value of dynamic electrocardiogram HRV combined with 3D-STE examination for postoperative MACE of CHD patients was analyzed.Results:In 80 CHD patients,21 cases occurred postoperative MACE,with an incidence rate of 26.25%.The standard deviation of the average NN intervals(SDANN)(65.26±9.65)ms of 5-minute sinus,the standard deviation of normal-to-normal intervals index(SDNN Index)(40.15±6.36)ms of 5-minute in continuous 24 hours,the root mean square of successive differences(r-MSSD)(36.86±4.55)ms between the normal adjacent cardiac cycles,the left atrial emptying fraction(LAEF)(40.25±4.53)%,and the left atrial storage phase strain(LASr)(15.24±3.62)%in CHD patients with MACE were lower than those without MACE[(87.45±10.22)ms,(52.45±7.85)ms,(46.54±6.25)ms,(48.54±6.33)ms,(19.99±4.55)%],and the left atrial pre-contraction volume(LAVp)(42.51±3.65)ml was higher than that(35.18±2.99)mL in patients without MACE,with statistically significant differences(t=8.666,6.457,6.499,9.093,5.510,4.317,P<0.05).Logistic regression analysis showed that SDANN,SDNN Index,r-MSSD,LAVp,LAEF,LASr were correlations with the occurrence of postoperative MACE in CHD patients(OR=0.756,0.772,0.694,2.481,0.721,0.739,P<0.05).The receiver operating characteristics(ROC)curves indicated that the area under curve(AUC)values of SDANN,SDNN Index,r-MSSD,LAVp,LAEF and LASr were all greater than 0.70 in predicting postoperative MACE in CHD patients,which indicated all of them had predictive value,and the predictive value of the combined detection was higher.Conclusion:Dynamic electrocardiogram HRV and 3D-STE parameters have a certain predictive value for the occurrence of postoperative MACE in CHD patients,and the predictive value of the combined detection for the them are higher.Therefore,dynamic electrocardiogram HRV and 3D-STE parameters can be used as one of the important reference schemes of assessing postoperative MACE of patients.

Purpose To explore the value of conventional ultrasound combined with ultrasound radiomics in detecting triple-negative breast cancer(TNBC).Materials and Methods In this study,we retrospectively collected the preoperative conventional ultrasound images and clinic-pathological data of 682 patients with lumpy breast cancer from the Affiliated Cancer Hospital of Xinjiang Medical University from January 2015 to December 2021.All patients included 325 cases with TNBC and 357 cases with non-TNBC.Features were extracted from preoperative ultrasound images of patients,screened,dimensionally reduced,and a combined model was constructed with ultrasound features and clinicopathological features.The performance of the three single models and combined models was evaluated by receiver operating characteristic curve analysis.Results The area under the curve of conventional ultrasound model,clinicopathological model,ultrasound imaging omics and the combined model in training group and validation suite were 0.730,0.718,0.982,0.985,0.726,0.683,0.981 and 0.982,respectively.The area under the curve of TNBC detected by the combined model was significantly higher than that of the single model(Z=7.311,7.024,3.883,all P<0.01).Conclusion The combined model based on ultrasonography has good diagnostic efficacy in detecting TNBC.As a non-invasive examination,it can avoid unnecessary biopsy to the patient.

Estrogen receptor α36(ERα36),a splice variant of ERα66,is crucial in the pathogenesis,progression,and therapeutic resistance of female estrogen-related tumors(e.g.,breast,cervical,and endometrial cancers)as it uniquely activates non-genomic signaling pathways.This review provides a comprehensive summary of the structural features of ERα36 and its molecular mechanisms in regulating tumor prolif-eration,migration,and drug resistance via membrane-mediated pathways,including phosphatidylinositol 3-kinase/protein kinase B(PI3K/AKT)and mitogen-activated protein kinase/extracellular signal-regulated kinase(MAPK/ERK).The interaction between ERα36 and epi-dermal growth factor receptor/human epidermal growth factor receptor2(EGFR/HER2)forms a positive feedback loop that exacerbates ma-lignant transformation.High ERα36 expression is associated with decreased sensitivity to chemotherapy and resistance to tamoxifen.Recent studies have demonstrated that natural compounds and synthetic inhibitors targeting ERα36 can reverse drug resistance and suppress can-cer stem cell activity by blocking non-genomic signaling.This review provides novel insights into overcoming drug resistance and optimizing targeted therapies for female estrogen-related malignancies.

Objective:To explore the genetic etiology for a Chinese pedigree affected with X-linked cardiac valve dysplasia (CVDPX) and chronic idiopathic intestinal pseudo-obstruction (CIIPX).Methods:A pedigree presented at the First Hospital of Lanzhou University in June 2024 for CVDPX combined with CIIPX was selected as the study subject. Whole exome sequencing (Trio-WES) was carried out, and the candidate variant was verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of the First Hospital of Lanzhou University (Ethics No. LDYYSZLLKH2024-15).Results:Both the proband and his affected younger brother were found to harbor a hemizygous c. 443A>G (p.Tyr148Cys) variant of the FLNA gene, for which their mother was heterozygous and their father was not a carrier, suggesting an X-linked recessive inheritance pattern. The variant was not recorded by the OMIM and ClinVar databases, and was determined to be likely pathogenic (PM2+ PS4+ PP2+ PP3) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). The patients had presented with typical CVDPX/CIIPX phenotype, including multiple valve dysplasia and chronic pseudo intestinal obstruction, in addition with gallbladder wall edema and thickening. Bioinformatic analysis showed that the variant site is highly conserved, and multiple algorithms had predicted its pathogenicity. Conclusion:This study confirmed the diagnosis of CVDPX/CIIPX in a Chinese pedigree, expanded the phenotype spectrum of FLNA gene variants, and provided a basis for genetic counseling and prenatal diagnosis for the pedigree.

Objective:To analyze the assessment value of the quantitative parameters of coronary computed tomography angiography(CCTA)combined with QRS wave complex of electrocardiogram(ECG)for grading of cardiac function in patients with coronary heart disease(CHD).Methods:Eighty CHD patients admitted to Beijing Rehabilitation Hospital,Capital Medical University between January 2023 and December 2024 were selected.The grading of cardiac function of CHD patients were assessed according to the standard of New York Heart Association(NYHA).All patients underwent CCTA and ECG upon admission.CCTA quantitative parameters and QRS wave complex duration were recorded and compared among patients with different grades of cardiac function.The correlation between CCTA quantitative parameters[non-calcified plaque volume(NCPV),calcified plaque volume(CPV),total plaque volume(TPV),vessel volume,reconstruction index],QRS wave complex duration,and grading of cardiac function of CHD patient was analyzed.The area under curve(AUC)of receiver operating characteristic(ROC)curve was used to analyze the value of each parameter and QRS wave complex duration in assessing CHD patients whose cardiac function grade was≥III grade.Results:In the 80 CHD patients,NYHA grades were distributed as follows:11 cases were grade I,and 23 cases were grade II,and 27 cases were grade III,and 19 cases were grade IV.The NCPV,CPV,TPV,reconstruction index,and QRS wave complex duration of patients at grade III and grade IV were higher than those of patients at grade I-grade II,and the differences were significant(F=17.401,37.077,12.297,7.087,11.148,P<0.05).Furthermore,patients at grade IV showed higher values in all parameters than those of patients at grade III.The NCPV,CPV,TPV,reconstruction index(t=3.486,4.315,3.444,2.068,2.600,P<0.05),and QRS wave complex duration of CCTA parameters showed positive correlations with cardiac function grading in CHD patient(r=0.464,0.548,0.346,0.287,0.373,P<0.05).ROC curve analysis revealed that the AUC values of alone NCPV,CPV,TPV,reconstruction index,QRS wave complex duration of CCTA parameters,and the combination of these indicators were respectively 0.793,0.843,0.723,0.748,and 0.737 in assessing CHD patients whose cardiac function grade was≥III,which indicated that these indicators had a certain assessment value,and the combined detection can improve the AUC value and sensitivity.Conclusion:The combination of CCTA parameters(NCPV,CPV,TPV,reconstruction index)and QRS wave complex duration can improve the assessment value for CHD patients whose grade of cardiac function is≥grade III.

Purpose To explore the value of conventional ultrasound combined with ultrasound radiomics in detecting triple-negative breast cancer(TNBC).Materials and Methods In this study,we retrospectively collected the preoperative conventional ultrasound images and clinic-pathological data of 682 patients with lumpy breast cancer from the Affiliated Cancer Hospital of Xinjiang Medical University from January 2015 to December 2021.All patients included 325 cases with TNBC and 357 cases with non-TNBC.Features were extracted from preoperative ultrasound images of patients,screened,dimensionally reduced,and a combined model was constructed with ultrasound features and clinicopathological features.The performance of the three single models and combined models was evaluated by receiver operating characteristic curve analysis.Results The area under the curve of conventional ultrasound model,clinicopathological model,ultrasound imaging omics and the combined model in training group and validation suite were 0.730,0.718,0.982,0.985,0.726,0.683,0.981 and 0.982,respectively.The area under the curve of TNBC detected by the combined model was significantly higher than that of the single model(Z=7.311,7.024,3.883,all P<0.01).Conclusion The combined model based on ultrasonography has good diagnostic efficacy in detecting TNBC.As a non-invasive examination,it can avoid unnecessary biopsy to the patient.

OBJECTIVE: To explore the genetic etiology for a Chinese pedigree affected with X-linked cardiac valve dysplasia (CVDPX) and congenital chronic pseudo intestinal obstruction (CIIPX). METHODS: A pedigree presented at the First Hospital of Lanzhou University for CVDPX combined with CIIX was selected as the study subject. Whole exome sequencing (Trio-WES) was carried out, and the candidate variant was verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of the First Hospital of Lanzhou University (Ethics No. LDYYSZLLKH2024-15). RESULTS: Both the proband and his affected younger brother were found to harbor a hemizygous c.443A>G (p.Tyr148Cys) variant of the FLNA gene, for which their mother was heterozygous and their father was not a carrier, suggesting an X-linked recessive inheritance pattern. The variant was not recorded in the OMIM and ClinVar databases, and was determined to be likely pathogenic (PM2+PS4+PP2+PP3) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). The patients had presented with typical CVDPX/CIIPX phenotype, including multiple valve dysplasia and chronic pseudo intestinal obstruction, in addition with gallbladder wall edema and thickening. Bioinformatic analysis showed that the variant site is highly conserved, and multiple algorithms had predicted its pathogenicity. CONCLUSION This study confirmed the diagnosis of CVDPX/CIIX in a Chinese pedigree, expanded the phenotype spectrum of FLNA gene variants, and provided a basis for genetic counseling and prenatal diagnosis for the pedigree.
Adult ; Female ; Humans ; Male ; Exome Sequencing ; Filamins/genetics* ; Genetic Diseases, X-Linked/genetics* ; Heart Defects, Congenital/genetics* ; Heart Valve Diseases/genetics* ; Pedigree ; East Asian People/genetics*

OBJECTIVE: To explore the mechanism and clinical manifestations of a case with complex structural variations involving chromosomes 5, 7, and 14, and assess the value of Chromosome conformation-based karyotyping (C-MoKa) for its diagnosis. METHODS: Two half-sibs by the same father presented at the First Hospital of Lanzhou University in December 2024 for severe multi-system abnormalities were selected as study subjects. Peripheral blood samples from the their parents were subjected to conventional chromosomal karyotyping analysis. The father was further analyzed using C-MoKa, while both siblings underwent copy number variation sequencing (CNV-seq). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: LDYYSZLLKH2025-05). RESULTS: Conventional karyotype analysis indicated that the father has a karyotype of 46,XY,add(5)(p15.3). CNV-seq identified multiple chromosomal abnormalities in both siblings, including duplications and deletions of chromosomes 14 and 5. C-MoKa analysis further revealed a complex chromosomal structural variation involving chromosomes 5, 7, and 14 in the father. These variations were closely associated with the severe phenotypes noted in both children. CONCLUSION Complex chromosomal structural variations can lead to multi-system abnormalities and significantly impact reproductive health. Compared to conventional karyotyping, the C-MoKa technique has shown significant advantage in identifying such complex rearrangements. The combined application of multiple techniques can improve the accuracy of diagnosis, enabling genetic counseling for carriers to reduce their risk for producing further affected offspring.
Female ; Humans ; Male ; China ; Chromosome Aberrations ; DNA Copy Number Variations/genetics* ; Karyotyping ; Pedigree ; East Asian People/genetics*