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

On July 1， 2026， Hepatology International published online the APASL clinical practice guidance on the diagnosis and management of patients with Wilson’s disease. The guidance formulates 22 recommendations for Wilson’s disease from the aspects of clinical manifestations， laboratory and imaging diagnostics， genetic testing， family screening， lifestyle modifications， pharmacotherapy， liver transplantation， pregnancy management， and care for asymptomatic/presymptomatic patients. This article systematically reviews the core contents of this guidance， with a particular focus on the excerpted recommendations for diagnosis and treatment， in order to provide a practical reference for the clinical identification， diagnosis， and long-term management of patients with Wilson’s disease.

Hereditary hemochromatosis （HH） is a hereditary disease characterized by iron overload resulting from mutations in genes involved in iron metabolism. Type ⅣA HH， also known as classical ferroportin disease， is caused by loss-of-function mutations in the SLC40A1 gene and has the clinical manifestations of a significant increase in serum ferritin， normal or low transferrin saturation， and marked iron deposition in the spleen. This article reports a case of type ⅣA HH with a significant asymptomatic increase in serum ferritin. Magnetic resonance imaging showed that the severity of iron overload in the spleen was significantly higher than that in the liver； liver biopsy showed mild fatty liver disease and iron deposition in Kupffer cells； gene variation analysis identified a heterozygous mutation in SLC40A1 c.485_487del （p.Val162del）. Screening of family members showed that the proband’s mother carried the same variation and had the manifestation of iron overload in the liver and spleen， which further confirmed the pathogenicity of this variation. This case highlights that type ⅣA HH often has an insidious onset and is frequently misdiagnosed. For patients with an unexplained persistent increase in serum ferritin， active genetic testing for HH should be considered， even in the presence of concurrent liver diseases， in order to realize early diagnosis and intervention.

Objective:To evaluate the effect of perineal massage during pregnancy, when combined with Kegel exercises, on preventing perineal injury, and to provide a basis for offering safer and more effective delivery intervention measures for expectant mothers.Methods:Randomized controlled trials on perineal massage combined with Kegel exercises for preventing perineal injury were retrieved from databases such as CNKI, Wanfang database, VIP database, CBM database, PubMed, Embase, Web of Science, and Cochrane Library, from their inception to December 28, 2024. Meta-analysis was conducted using RevMan 5.3 software.Results:A total of 15 articles were included, involving 2 393 research subjects. The results of the Meta-analysis showed that there were statistically significant differences in the first stage of labor ( MD = - 1.63, 95% CI - 1.93 - - 1.30, P<0.001), the second stage of labor ( MD = - 32.58, 95% CI - 42.26 - - 22.90, P<0.01), and the third stage of labor time ( MD = - 3.41, 95% CI - 9.91 - - 2.91, P<0.001); the degree of perineal laceration Ⅱ ( OR = 0.40, 95% CI 0.28 - 0.58, P<0.001), Ⅲ( OR = 0.38, 95% CI 0.24 - 0.60, P<0.001), and Ⅳ( OR = 0.13, 95% CI 0.03 - 0.51, P = 0.003); the rate of perineal incision ( OR = 0.15, 95% CI 0.07 - 0.34, P<0.001), the rate of perineal laceration ( OR = 0.34, 95% CI 0.25 - 0.46, P<0.001), the rate of intact perineum ( OR = 6.30, 95% CI 3.20 - 12.40, P<0.001), and the amount of perineal bleeding ( MD = - 29.72, 95% CI - 43.51 - - 15.93, P<0.001), the difference was statistically significant. Conclusions:Prenatal perineal massage combined with Kegel exercises is a safe, effective and easily implementable intervention method. It is highly effective in preventing perineal injuries and shortening the duration of labor. It not only reduces the risk of postpartum complications but also helps to optimize the delivery experience. Therefore, this combined intervention method can be regarded as one of the important measures for preventing perineal injuries and should be widely promoted in clinical practice.

Objective To investigate the influencing factors and Traditional Chinese Medical(TCM)syndrome classification of skin pruritus in patients with maintenance hemodialysis(MHD).Methods A total of 174 hemodialysis patients who underwent regular dialysis in Zhejiang Chinese Medical University Affiliated Jiaxing TCM Hospital from July to September 2024 were selected as study subjects.According to the presence or absence of uremic pruritus(UP),they were divided into pruritus group(n=66)and non-pruritus group(n=108).Both groups of patients were classified into TCM syndromes,and the factors affecting skin pruritus in MHD patients were analyzed by Logistic regression analysis and an evaluation model was established.The evaluation efficiency of the model was evaluated by receiver operating characteristic curve.The relationship between TCM syndromes and pruritus degree was analyzed.Results Both groups of patients were mainly characterized by spleen and kidney Qi deficiency,and the difference was statistically significant(P＜0.05).Logistic regression analysis showed that β2 microglobulin(β2-MG),blood phosphorus,hyper-sensitive C-reactive protein and parathyroid hormone(PTH)were all risk factors for skin pruritus in MHD patients.The area under the curve of skin pruritus in MHD patients was 0.962(95％CI:0.930-0.995).The underlying syndrome of UP patients was mainly spleen and kidney Qi deficiency,and marked syndrome was mainly blood deficiency and wind-dryness.Conclusion β2-MG,blood phosphorus,hyper-sensitive C-reactive protein and PTH are closely related to the occurrence of skin pruritus in MHD patients.The TCM syndrome of UP patients is mainly characterized by spleen and kidney Qi deficiency,and syndrome of blood deficiency and wind-dryness is mainly characterized by UP patients,and there is a certain correlation between TCM syndrome classification and the degree of skin pruritus.

Aging is an inevitable biological process in organisms,accompanied by the decline of multiple physiological functions and increased risk of diseases.With the intensification of global aging,the research associated with mechanisms and the development of anti-aging drugs have become critical topics in the biomedical field.Aging animal models are pivotal tools for investigating aging mechanisms and developing anti-aging interventions.Model organisms commonly used in aging research include nematodes(Caenorhabditis elegans),fruit flies(Drosophila melanogaster),mice(Mus musculus),rats(Rattus norvegicus),naked-mole-rats(e.g.,Heterocephalus glaber),and rhesus macaques(Macaca mulatta).Considering experimental costs and time constraints,mice represent the most extensively employed mammalian model.Under standard housing conditions,mice develop aging phenotypes at approximately 18 months of age,Resultsing in lengthy and costly experimental timelines.To accelerate research,scientists have established diverse progeroid mouse models through genetic,pharmacological,and environmental interventions.Given the tissue-specific heterogeneity of aging,distinct progeria models are required to investigate aging mechanisms across different organ systems.Notably,each model exhibits unique advantages and limitations in mimicking human aging phenotypes,screening therapeutic targets,and evaluating anti-aging compounds.This review comprehensively examines morphological,physiological,and pathological variations among established progeria models,delineates their context-dependent applications and inherent constraints,and provides a systematic framework for model selection in fundamental aging research and translational geroscience,with perspectives on future method ological developments.

Objective:To explore the therapeutic effectiveness of using biomimetic electrical stimulation in conjunction with hormone replacement therapy involving estrogen and progesterone sequentially on premature ovarian failure and its influence on uterine artery hemodynamics.Methods:90 patients with premature ovarian failure in the First People's Hospital of Xianyang were selected from December 2022 to December 2023. According to the principle of matching the baseline characteristics between groups, the above patients were divided into observation group (pink ball, 45 cases) and control group (black ball, 45 cases) by random touching pink-black ball. The control group received estrogen-progesterone sequential therapy. In contrast, the observation group added biomimetic electrical stimulation combined therapy on the basis of the control group. The therapeutic effect, sex hormones (follicle stimulating hormone (FSH), luteinizing hormone (LH), estradiol), uterine artery hemodynamics indicators (uterine artery peak systolic velocity (PSV), pulsatility index (PI), resistance index) and occurrence of adverse reactions were compared between groups of patients. Measurement data with normal distribution were expressed as xˉ± s, and independent sample t test was used for between-group comparison of mean data and paired t-test was used for comparison before and after treatment. The percentage of enumeration data was calculated, and between-group rate was compared by chi-square test. P<0.05 was considered statistically significant. Results:Total effective rate with 96.56%(43/45) in observation group was higher than 82.22%(37/45) in control group ( χ2=4.05, P=0.044). After the end of treatment, FSH, LH, PI and resistance index in both groups were decreased, but the above indicators in observation group ((35.12±6.23) U/L, (33.56±4.12) U/L, 1.97±0.59, 0.41±0.13) were lower than those in control group ((49.23±6.87) U/L, (46.25±4.32) U/L, 2.33±1.04, 0.58±0.22), while the estradiol and PSV in both groups were increased, and the two indicators in observation group ((38.23±5.32) ng/L, (19.68±3.25) cm/s) were higher than those in control group were higher than those in control group ((32.12±5.12) ng/L, (16.44±2.03) cm/s) ( t value were 10.21, 2.52, 2.02, 4.62, 5.55, 5.67, respectively; Pvalue were <0.001, 0.014, 0.046, <0.001, <0.001, <0.001, respectively). The adverse reactions in the observation and control groups were nausea and vomiting (3 cases and 4 cases ), headache (2 cases and 4 cases), breast pain (1 case and 3 cases), and abdominal pain (2 cases and 4 cases), respectively,There were no statistical differences in incidence rates of adverse reactions between groups ( χ2 value were 0.16, 0.71, 1.05, and 0.71, respectively; P value were 0.694, 0.398, 0.306, and 0.398, respectively). Conclusion:The combination of biomimetic electrical stimulation technology and sequential therapy of estrogen and progesterone has shown outstanding efficacy in treating premature ovarian failure, promoting the synthesis of sex hormones in patients, improving uterine blood supply, and having high safety.

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 investigate the current situation of uncivilized behavior in workplace encountered by nurses in Xianyang City, and analyze its influencing factors, so as to provide a basis for formulating corresponding intervention measures.Methods:In May 2023, convenience sampling was used to investigate the general information, current situation of uncivilized behavior in workplace and coping style of 1310 nurses in 8 secondary and tertiary general hospitals in Xianyang City by using the general information questionnaire, the Chinese version of the Nurse Incivility Scale and the Simplified Coping Style Questionnaire. Multiple linear regression analysis was used to analyze the influencing factors of uncivilized behavior encountered by nurses.Results:A total of 1285 valid questionnaires were collected, with an effective recovery rate of 98.09%. The total score of uncivilized behavior encountered by nurses was (86.41±22.49) points. Among them, the scores of five dimensions were nurses' uncivilized behavior (19.95±4.70) points, patients' uncivilized behavior (23.66±8.96) points, supervisors' uncivilized behavior (13.25±4.87) points, doctors' uncivilized behavior (14.32±5.63) points and colleagues' uncivilized behavior (15.23±4.93) points. The multiple linear regression analysis results showed that the hospital level and coping style were the significant influencing factors of uncivilized behavior in workplace encountered by nurses ( β=0.104, 0.056; P<0.05) . Conclusion:The current situation of uncivilized behavior in workplace encountered by nurses needs to be improved. Hospital managers should focus on coping styles, such as setting up simulation scene exercises, team cooperation training, training and counseling, so as to reduce the uncivilized behavior in workplace encountered by nurses.

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.