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 investigate the effects of atorvastatin （ATV） on the proliferation and differentiation of rat bone marrow mesenchymal stem cells （BMSCs）， periodontal ligament stem cells （PDLSCs）， and dental pulp stem cells （DPSCs） in vitro， and to validate the regulatory effect of ATV on periodontal bone formation and tooth movement using a rat orthodontic tooth movement （OTM） model. MethodsThe effects of ATV on the proliferation and osteogenic/odontogenic differentiation of rat BMSCs， PDLSCs， and DPSCs were assessed in vitro. CCK-8 assay was used to detect the proliferation of the three types of cells. Alkaline phosphatase （ALP） staining and Alizarin Red staining were employed to evaluate osteogenic differentiation capacity. Western blot was used to detect the expression of osteogenesis-related proteins ［collagen type I （COL-I）， Runt-related transcription factor 2 （Runx2）， bone morphogenetic protein-2 （BMP-2）， osteocalcin （OCN）］ and the odontogenesis-related protein dentin sialophosphoprotein （DSPP） in BMSCs， PDLSCs and DPSCs. An OTM rat model was established， with rats randomly assigned to an ATV gavage group and a control group. The ATV gavage group received daily oral administration of ATV at a dose of 20 mg/kg， while the control group received an equal volume of solvent by gavage. Tooth movement distance was measured via Micro-CT on days 7， 14， and 21. Histomorphology of periodontal tissues was observed using Hematoxylin and Eosin （HE） staining and Masson staining. The gene and protein expression levels of osteogenic markers （BMP-2， Runx2， OCN） on the tension side of the first molar were detected by qRT-PCR and immunohistochemistry， respectively. ResultsATV at concentrations of 1×10⁻⁶ mol/L and 1×10⁻⁷ mol/L significantly promoted the proliferation and osteogenic/odontogenic differentiation of BMSCs， PDLSCs， and DPSCs， manifested as enhanced ALP activity， increased mineralized nodule formation， and up-regulated expression of osteogenic/odontogenic proteins COL-I， Runx2， BMP-2， OCN， and DSPP （P<0.001）. In the OTM model， compared with the control group， the ATV gavage group showed a significant reduction in tooth movement distance （P<0.05）， enhanced osteogenic activity in periodontal tissues， and significantly increased gene （P<0.001） and protein （P<0.05） expression of BMP-2， Runx2， and OCN on the tension side of the first molar. ConclusionATV enhances periodontal osteogenesis by promoting osteogenic/dentinogenic differentiation， thus inhibiting tooth movement.

Neonatal diabetes mellitus （NDM） is a rare monogenic disorder primarily caused by insufficient insulin secretion resulting from mutations in the KCNJ11 and ABCC8 genes. Sulfonylureas， represented by glibenclamide， have become the standard therapy for this type of NDM by precisely closing the mutated ATP-sensitive potassium channels in pancreatic β cells， thereby restoring insulin secretion. Clinical studies confirm that sulfonylureas enable over 90% of patients to successfully transition from insulin to oral treatment， achieving long-term stable glycemic control and improving neurological outcomes to a certain extent. In terms of safety， severe hypoglycemia induced by sulfonylureas is relatively rare and gastrointestinal reactions are mild； moreover， sulfonylureas show good long-term tolerability， and have no adverse effects on child growth and development. In the future， by further refining the full-chain management pathway of “rapid genetic diagnosis-early intervention-specialized dosage forms-long-term follow-up”， the clinical application of sulfonylureas is expected to provide NDM patients with an optimized treatment regimen and maximize their health benefits.

Chinese medicine intestinal administration(CMIA)can avoid the degradation of drugs in gastric acid,bypass the first-pass effect of the liver,and deliver drugs directly to the lesion site.This approach increases local drug concentration,reduces drug dosage,and enhances bioavailability.This study systematically introduces the advantages,drug dosage forms,and whole-colon deliv-ery technologies of CMIA for treating UC,and reviews its mechanisms of action,including repairing intestinal epithelial layer and mu-cous layer,regulating the intestinal microbiota,improving immune function,and promoting local blood circulation.It also analyzes the current progress and limitations of research,aiming to provide a more solid theoretical basis for the treatment of UC with Chinese medi-cine and to offer references for the development of UC therapeutic drugs and administration methods.

Objective To investigate the appropriateness of rivaroxaban prescription in hospitalized patients with atrial fibrillation,in order to provide a reference for prescription quality improvement projects.Methods Electronic medical records of patients with atrial fibrillation using rivaroxaban from a tertiary hospital were retrospectively analyzed.The suitability of rivaroxaban prescription was evaluated according to its indications,contraindications,usage,and dosage.If the reduction does not meet the reduction standard,it is defined as"off-label low dose";If the reduction standard is met but not reduced,it is defined as"off-label high dose".Results In this study,4 211 patients with atrial fibrillation using rivaroxaban were included to evaluate the suitability of prescription,of which 61 patients(1.45%)had unsuitable indications and 358 patients(8.50%)had unsuitable combined use.The remaining 3 792 patients(mean age 61.6 years;male 68.75%)were evaluated for the dose suitability of rivaroxaban.Among them,18.57%prescriptions were evaluated as inappropriate dosage;16.27%were"off-label low dose"and 2.29%were"off-label high dose".The influencing factors of prescription dose suitability were analyzed,which showed that patients who were female,underweight,older,and with renal insufficiency were more likely to be prescribed an inappropriate dose(high or low,P<0.01).Conclusions The vast majority of the prescribed doses of rivaroxaban in the cohort of patients with atrial fibrillation in this study were appropriate.Given clinicians'concerns about the risk of bleeding,low-dose prescriptions were more common in females,underweight,older,and patients with renal insufficiency patients or those taking other bleeding-prone medications.The review and reminder of fine prescription can be completed by improving the setting conditions of the rational drug use software.

Objective:To establish a method for determination of fluoride in water using a fully automated biochemical analyzer (abbreviated as this method).Methods:Based on the parameters of the fully automatic biochemical analyzer, appropriate reagent volumes and reaction time were optimized to determine fluoride ions in water within the standard curve range (0.0 - 2.0 mg/L). The method was validated through evaluation of linear range, detection limit, precision, accuracy, and comparative analysis with the manual measurement results of fluoride reagent spectrophotometric method specified in the "Standard Examination Methods for Drinking Water - Part 5: Inorganic Nonmetallic indices" (GB/T 5750.5-2023).Results:Within the range of 0.0 - 2.0 mg/L fluoride mass concentration, the absolute values of the correlation coefficients were > 0.999 0 and the detection limit of this method was 0.082 mg/L. The relative standard deviation for the determination of fluoride level in water samples with low, medium and high fluoride mass concentrations was 4.03%, 2.16% and 1.68%, respectively. The spiked recovery rates were 98.1%, 99.5%, and 100.2%, respectively. There was no statistically significant difference between the results obtained by this method and manual measurement ( t = 1.07, P = 0.295). Conclusion:This method exhibits high sensitivity, accuracy, and efficiency in detecting fluoride, enabling rapid sample detection through instrumental automation instead of manual operation.

Objective To investigate the correlation between skeletal muscle mass index(ASMI)and islet β cell reserve function in patients with newly diagnosed type 2 diabetes mellitus(T2DM).Methods A total of 100 patients with newly diagnosed T2DM were included in this study.All the patients were admitted to the Department of Endocrinology in the First People's Hospital of Yinchuan between June 2022 and November 2023.They were divided into two groups according to their skeletal muscle mass index(ASMI):patients with T2DM accompanied by sarcopenia(Sar,n=50)group,and patients with simple T2DM(T2DM,n=50)group.Additionally,a control(NC)group consisting of 50 healthy participants was selected.Fasting C-peptide levels,liver and kidney function,blood lipid profiles,and other indicators were assessed in all the individuals.The correlation between ASMI and other indicators was analyzed,and the influencing factors for ASMI and T2DM combined with sarcopenia were analyzed respectively.Results The levels of HbA1c,FPG,and TG were higher,while FC-P and Scr levels were lower in the T2DM group and Sar group compared with the NC group(P<0.05).FPG was higher,while ASMI,FC-P,BMI were lower in the Sar group than in the T2DM group(P<0.05).Spearman correlation analysis revealed a negative correlation between ASMI and FPG and HbA1c(P<0.05),whereas a positive correlation was observed with BMI,ALT,Scr,SUA and FC-P(P<0.05).Multiple linear regression analysis indicated that BMI,HbA1c and FC-P were influencing factors for ASMI(P<0.05).Furthermore,logistic regression analysis demonstrated that BMI,HbA1c,FC-P were influencing factors for T2DM with sarcopenia(P<0.05).Conclusions The level of ASMI may be related to the reserve function of islet β cells.

Objective To explore the feasibility and safety of non-anticoagulation veno-venous extracorporeal membrane oxygenation(VV-ECMO)in patients with severe chest trauma.Methods A retrospective cohort study method was used.A total of 19 patients with severe chest trauma who received VV-ECMO with a delayed anticoagulation strategy at Zhengzhou Central Hospital Affiliated to Zhengzhou University from January 2018 to October 2021 were included in the delayed anticoagulation group,and 20 patients with severe chest trauma who received VV-ECMO with a non-anticoagulation strategy from November 2021 to October 2024 were included in the non-anticoagulation group.The overall clinical characteristics of the patients were statistically analyzed,including gender,age,injury severity score(ISS),acute physiology and chronic health evaluationⅡ(APACHEⅡ),reason for VV-ECMO,use of vasoactive drugs,oxygenation index(PaO2/FiO2),and interval from injury to VV-ECMO.The primary outcomes were hemorrhagic and thrombotic complications.The secondary outcomes were blood transfusion during VV-ECMO,VV-ECMO time,mechanical ventilation time,intensive care unit(ICU)length of stay,and 28-day mortality.Results There was no significant difference in gender,age,ISS score,APACHEⅡscore,reason for VV-ECMO,use of vasoactive drugs,PaO2/FiO2,and interval from injury to VV-ECMO between the non-anticoagulation group and the delayed anticoagulation group.There was no significant difference in overall incidence of hemorrhagic and thrombotic between the two groups[incidence of hemorrhagic complications:15.0%(3/20)vs.31.6%(6/19),incidence of thrombotic:15.0%(3/20)vs.5.3%(1/19),both P>0.05].The infusion rate of 4 or more paked red blood cell(PRBC)within 24 hours during VV-ECMO in the non-anticoagulation group was significantly lower than that in the delayed anticoagulation group[5.0%(1/20)vs.31.6%(6/19),P<0.05].The amount of PRBC and platelet transfusion and the time on VV-ECMO in the non-anticoagulation group during VV-ECMO were significantly lower than those in the delayed anticoagulation group[PRBC(U):5.8±3.8 vs.8.1±3.1,platelets(U):1(0,1)vs.2(1,3),time on VV-ECMO(hours):71.55±24.37 vs.114.21±34.08,all P<0.05].There were no statistically significant differences in the amount of plasma and cryoprecipitate transfusion during VV-ECMO,mechanical ventilation time,ICU hospitalization time,and 28-day mortality between the two groups.Conclusion For patients with severe chest trauma receiving VV-ECMO withholding routine systemic anticoagulation did not result in thrombotic complications or higher mortality and required less PRBC and platelet transfusions.Non-anticoagulant VV-ECMO is safe and feasible for patients with severe chest trauma with high risk of bleeding.

Objective:To describe the prevalence of anxiety disorders and its distribution in Inner Mongolia Autonomous Region,and to explore the relevant factors of anxiety disorders.Methods:From June 2019 to Decem-ber 2019,representative multi-stage disproportionate stratified sampling procedure was used to sample in residents aged 18 and over in the Inner Mongolia Autonomous Region.All respondents were face-to-face interviewed by trained interviewers.Composite International Diagnostic Interview-3.0(CIDI-3.0)was used to diagnose anxiety disorders according to the criteria and definition of the Diagnostic and Statistical Manual of Mental Disorders,Fourth Edition(DSM-Ⅳ).Chi-square test and multivariate logistic regression analysis were used for statistical anal-ysis.Results:Totally 12 315 people were interviewed in the survey.The weighted 12-mouth prevalence rate of any anxiety disorder was 4.64％,and the lifetime prevalence rate was 6.25％.The weighted 12-month prevalence rate of anxiety disorders was higher in female than that in male(5.38％vs.3.92％).The rate was higher in rural resi-dents than that in urban residents(5.67％vs.3.95％).The rate was higher in people with chronic diseases than that in people without chronic diseases(6.81％vs.2.29％).Logistic regression analysis showed that unmarried(OR=2.32,95％CI:1.31-4.10),separated/divorced(OR=2.49,95％CI:1.33-4.67),in debt(OR=1.55,95％CI:1.04-2.32),chronic disease(OR=2.22,95％CI:1.39-3.53),family history of anxiety disorders(OR=12.05,95％CI:8.78-16.53),poor sleep(OR=2.64,95％CI:1.97-3.54)were risk factors of occurrence of anxiety disorders,while junior high school(OR=0.65,95％CI:0.44-0.96)was protective factor of anxiety disor-ders.Conclusion:Adults with chronic diseases,poor sleep,unmarried or separated/divorced,family history of anxi-ety disorders,and financial debt are at higher risk groups of anxiety disorder in Inner Mongolia Autonomous Re-gion.

Objective:To describe the prevalence and distributions of mood disorder in Inner Mongolia Au-tonomous Region,and analyze the related risk factors.Methods:The multistage stratified sampling method with un-equal probability was used to select permanent residents aged 18 years and over in Inner Mongolia Autonomous Re-gion.The Composite International Diagnostic Interview 3.0 was used as a diagnostic tool.Mood disorders were di-agnosed according to the Diagnostic and Statistical Manual of Mental Disorders Fourth Edition(DSM-Ⅳ).Single and multivariate analyses were used to investigate the related factors of mood disorders.Results:Totally,12 315 community residents were interviewed in the survey.The weighted 12-month prevalence and lifetime prevalence of mood disorder were 5.4％and 8.7％,respectively.Weighted 12-month prevalence of depressive disorder was 4.9％,and that of bipolar disorder was 0.3％.Among all subtypes of mood disorder,the 12-month prevalence rate of major depressive disorder(3.1％)was the highest.Multivariate logistic regression analysis showed that female,unmarried,separated or divorced,unemployment,family history,other mental disorders,sleep disorders and chronic diseases(OR=1.56,2.80,2.07,1.42,13.46,7.97,3.23,2.13)were risk factors of mood disorder,while aged 65 years and over(OR=0.44)was protective factor of mood disorders.The lifetime consultation rate in patients with mood disorders was 15.5％,the rate of psychiatric consultation was 3.7％,the rate of medication was 1.8％.Con-clusion:It indicates that female residents and people who are unmarried,separated and divorced,unemployed,with family history,suffering from other mental disorders,suffering from sleep disorders,and suffering from chronic dis-eases may be high risk groups of mood disorders,and the utilization rate of health services is rather low in Inner Mongolia Autonomous Region.