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

The new synergistic education model integrating the “five arts” medical talent cultivation philosophy and the red doctor spirit could form a virtuous cycle of “spiritual guidance-technological breakthrough-spiritual reshaping” in the field of military medical education. Addressing the existing challenges in the process of military medical cadets’ training， such as mission awareness， humanistic care， battlefield rescue， and emergency response， this study proposed integrating the red doctor spirit， characterized by political steadfastness， healing the wounded and rescuing the dying， selfless devotion， relentless pursuit of excellence， and seeking truth and innovation， into the training system under the guidance of the “five arts” philosophy， including establishing a foundation through Daoist arts， forging the soul with benevolence， empowering through academia， tempering through technology， and nurturing the mind through artistry. A cultivation model was constructed featuring “moral education as the priority and cultivating through soul-forging； military spirit as the root and medical professionalism as the foundation and training for warfare； mastery in medicine for battlefield success and cultivating talent through rigorous scholarship.” Furthermore， through pathways including the optimization and implementation of the curriculum system， the enhancement and innovation of practical teaching， the development and training of the faculty team， and the improvement and innovation of the evaluation system， this model assisted in achieve the goal of cultivating compound talents with “the red medicine essence plus the five arts foundation.” These talents also built their foundation on the “five arts” philosophy， forge their spirit with the red doctor spirit， and was tempered with battlefield adaptability.

OBJECTIVE To explore the antidepressant mechanism of Wenyang jieyu granules （WYJYG） via the NOD-like receptor thermal protein domain associated protein 3 （NLRP3）/apoptosis-associated speck-like protein containing a CARD （ASC）/Caspase-1 pathway. METHODS A rat model of depression was established by chronic unpredictable mild stress combined with single-housing for 42 consecutive days.The experiment set up blank group， model group， MCC950 （NLRP3 inflammasome inhibitor） group （10 mg/kg）， fluoxetine group （positive control，2.08 mg/kg），low-dose WYJYG（3.78 g/kg） and high-dose WYJYG group （7.56 g/kg），with 10 rats in each group. From the 22nd day of the experiment， rats in the fluoxetine group， low-dose and high-dose WYJYG groups were intragastrically administered with the corresponding drugs and intraperitoneally injected with an equal volume of normal saline. Rats in the MCC950 group were intraperitoneally injected with MCC950 at the corresponding concentration and intragastrically administered with an equal volume of distilled water. Rats in the blank group and model group were given an equal volume of distilled water by gavage and an equal volume of normal saline by intraperitoneal injection. All interventions were performed once a day for 21 consecutive days. Behavioral tests were conducted once a week. After the last administration， the contents of ASC， ionized calcium binding adaptor molecule 1 （Iba1）， interleukin-1β （IL-1β）， and IL-18 in hippocampal tissues were detected. The protein expressions of NLRP3， cluster of differentiation 68 （CD68）， Caspase-1， B-cell lymphoma-2 （Bcl-2）， and Bcl-2-associated X protein were determined， and neuronal apoptosis was observed. RESULTS After the last administration， compared with the model group， the open-field activity time was significantly prolonged （ P ＜0.05）， and the latency to feed in a novel environment was significantly shortened （ P ＜0.05） in rats of the high-dose WYJYG group. In hippocampal tissue， the contents of ASC， Iba1， IL-1β， and IL-18， as well as the protein expression levels of NLRP3， Caspase-1， and CD68， and the positive rate of neuronal apoptosis were all significantly decreased/downregulated （ P ＜0.05）. Bcl-2 protein expression was significantly upregulated （ P ＜0.05）， and the density of neuronal apoptosis-positive cells was significantly reduced （ P ＜0.05）. CONCLUSIONS WYJYG play on antidepressant role by inhibiting the NLRP3/ASC/Caspase-1 pathway， reducing microglia-mediated neuroinflammation， and inhibiting hippocampal neurons apoptosis.

Objective To investigate the influencing factors of pulmonary and extrapulmonary acute re-spiratory distress syndrome(ARDS)caused by sepsis.Methods A total of 126 patients with ARDS admitted to the Department of Critical Care Medicine,General Hospital of Ningxia Medical University,from January 2022 to June 2024 were selected.Patients were divided into pulmonary ARDS and extrapulmonary ARDS groups based on the etiology of ARDS.General data,inflammatory indicators,and prognostic outcomes were compared between the two groups.COX regression analysis was used to identify prognostic factors.Results A-mong the 126 patients,72 were diagnosed with pulmonary ARDS and 54 with extrapulmonary ARDS.The pulmonary ARDS group had significantly lower SOFA scores,fewer organ dysfunctions,a lower incidence of arrhythmia,shorter mechanical ventilation duration,higher Murray scores,and higher Charlson Comorbidity Index(CCI)compared to the extrapulmonary ARDS group(P<0.05).Inflammatory markers,including pro-calcitonin(PCT),C-reactive protein(CRP),interleukin(IL)-4,IL-6,IL-10,and tumor necrosis factor-α(TNF-α),were significantly lower in the pulmonary ARDS group,while interferon-γ(INF-γ)levels were higher(P<0.05).For pulmonary ARDS,CCI and TNF-α were identified as independent risk factors for prog-nosis(P<0.05),with the combination of CCI and TNF-α yielding the highest predictive accuracy(AUC=0.81,95%CI:0.71-0.91).For extrapulmonary ARDS,CCI and CRP were independent risk factors(P<0.05),and their combination achieved the highest predictive performance(AUC=0.91,95%CI:0.84-0.98).Conclusion Inflammatory profiles between pulmonary and extrapulmonary ARDS caused by sepsis are different.CCI and TNF-α are independent risk factors for mortality in pulmonary ARDS,while CCI and CRP are independent risk factors in extrapulmonary ARDS.

Objective To investigate the correlation between cytokines and the side effects of estrogen deprivation associated with adjuvant endocrine therapy in female patients with early luminal breast cancer. Methods A retrospective analysis was performed on the data of 70 patients with early-stage breast cancer who underwent both the Endocrine Symptom Scale (FACT-ES) assessment and cytokine testing at the Breast Clinic of the Department of Medical Oncology, Cancer Hospital, Chinese Academy of Medical Sciences, between April 2023 and June 2023. Results Binary logistic regression analysis revealed that breast cancer patients experiencing hot flashes had significantly higher serum levels of IL-5 compared with those without hot flashes (3.17 pg/ml vs. 2.33 pg/ml, OR: 1.307-7.66, P=0.011), and the patients experiencing irritability had significantly lower serum levels of IL-10 (0.83 pg/ml vs. 1.37 pg/ml) and INF-γ (19.91 pg/ml vs. 35.93 pg/ml) compared with those without irritability（OR: 0.855-0.983, P=0.015）. Conclusion The elevated IL-5 may be associated with the occurrence of hot flashes, while lower levels of IL-10 and INF-γ may be linked to irritability in patients with early-stage Luminal breast cancer treated with adjuvant endocrine therapy.

[Objective] To analyze the distribution of Rh blood group phenotype in some ethnic groups in China, so as to provide references for accurate blood transfusion. [Methods] The data of CNKI, Wanfang data and VIP were retrieved using "Rh blood group" and "nationality", and the search of PubMed database was conducted with the keywords "Rh blood group", "nationalities", "ethnic groups" and "China", with retrieval time until September 19, 2024 Data were extracted from eligible studies and the literature quality was evaluated using the criteria for cross-sectional studies in STROBE statement. Meta analysis was performed using Stata 11.0 software. [Results] A total of 350 relevant literature were retrieved, of which 26 were included. The total sample size for Rh phenotype distribution detection were 31 432, and the total population for RhD negative screening was 47 227, covering 26 ethnic groups. Meta-analysis revealed that the Rh blood groups phenotype distribution in certain ethnic populations in China was mainly CCDee 46.7% (95%CI=46.2%-47.2%), CcDEe 30.1% (95%CI=29.5%-30.6%), and CcDee 9.0% (95%CI=8.7%-9.3%). Analysis of the RhD-negative phenotype indicated an negative rate of RhD of 0.3% (95%CI=0.2%-0.3%), with the main phenotype distributions of ccdee at 0.2% (95%CI=0.1%-0.2%) and ccdEe at 0.2% (95%CI=0.0%-0.4%). The meta-analysis results of the distribution of common phenotypes among different ethnic groups showed that the CCDee phenotype was mainly distributed as Hani>Dong>Buyi>Miao>Tujia>Hui>Zang>Kazakh>Mongol>Uygur; the CcDEe phenotype: Zang>Mongol>Hui; the CcDee phenotype: Uygur>Kazakh>Mongol>Zang>Hui>Dong>Miao>Tujia>Buyi; the ccDEE phenotype: Zang>Hui=Mongol. The results of this study are similar to those of Qingdao population in China, but differ from studies conducted in North India, German individuals of European ancestry and Saudi Arabian populations. [Conclusion] The distribution of Rh blood group phenotypes in some ethnic groups in China shows no significant difference compared to the Han population, but there are differences when compared to populations in other countries and regions.

Endothelial dysfunction is a pivotal contributor to atherosclerosis(As)pathogenesis.A comprehensive understanding of the mechanisms of endothelial dysfunction would provide novel insights into effective treatment of As.Recent advances in genome and transcripome technology have enabled researchers to further explore the molecular mecha-nisms of endothelial dysfunction.It has been found that the regulatory network of competitive endogenous RNA(ceRNA)mediated by long non-coding RNA(lncRNA)plays a key role in endothelial dysfunction.lncRNA acts as a"molecular sponge"for microRNA(miRNA)to block the post-transcriptional repression of miRNA on downstream target gene messen-ger RNA(mRNA)by binding to miRNA,thereby regulating the function and phenotypic conversion of endothelial cell(EC)lncRNA-miRNA-mRNA interactions are widely involved in play an essential role EC inflammatory responses,apopto-sis,autophagy,angiogenesis,and endothelial-mesenchymal transition(EndMT).Which suggests that it may be a poten-tial therapeutic targets for As.

Objective:To analyze the physical activity level of patients treated with a percutaneous coronary intervention (PCI) for coronary artery disease in the early out-of-hospital recovery phase, and the factors influencing it.Methods:Patients who had been discharged within the previous 6 months after their first PCI treatment were surveyed using a general information questionnaire, the long form of the International Physical Activity Questionnaire (IPAQ), the Chinese version of the Tilburg Frailty Scale, the Social Support Rating Scale, and for their ability in the activities of daily living. Epidemiological descriptive methods were used to analyze the reported physical activity levels, and multifactoral logistic regression was applied to explore the influencing factors. The receiver operating characteristics (ROC) curve was drawn to evaluate the predictive value of the risk factors.Results:A total of 394 former patients were surveyed, including 117 (30%) reporting a low level of physical activity, 202 (51%) describing a moderate level and 75 (19%) claiming a high level. The univariate analysis revealed significant differences in physical activity levels among those of different ages, with different chronic co-morbidities, and with different frailty and self-care ability. Multifactoral logistic regression analysis showed that advanced age, chronic co-morbidities, frailty and little self-care ability are significant predictors of a low level of physical activity. The area under the ROC curve for predicting the physical activity level by combining those four factors was 0.89 (95% CI 0.84-0.94), with a sensitivity of 0.89 and a specificity of 0.80. Conclusions:The physical activity level of patients treated with PCI for coronary disease is moderately low early after their release from the hospital. Targeted intervention to increase it is called for.

BACKGROUND:A large number of studies have confirmed that both amniotic extracellular matrix materials and bladder extracellular matrix materials can be used as stem cell carriers for the treatment of endometrial injury,but the difference in effect between the two materials is relatively rare.OBJECTIVE:To compare the difference of amniotic extracellular matrix materials and bladder extracellular matrix materials as stem cell carrier in the treatment of endometrial injury.METHODS:Whole bone marrow adhesion method was used to isolate and purify bone marrow mesenchymal stem cells from SD rats.SD-rat amniotic extracellular matrix materials and bladder extracellular matrix materials were prepared respectively,and then bone marrow mesenchymal stem cells were inoculated on the surface of the two materials to detect cell proliferation and adhesion.Forty SD rats were randomly divided into four groups(n=10 per group).Except the sham operation group,the endometrial injury group,the amniotic extracellular matrix group,and the bladder extracellular matrix group were all established by mechanical intervention.The amniotic extracellular matrix/bone marrow mesenchymal stem cell complex and bladder stromal extracellular matrix/bone marrow mesenchymal stem cell complex were transplanted into the injured endometrial site in the amniotic extracellular matrix group and the bladder extracellular matrix group.Samples were collected and detected 14 and 28 days after transplantation.The morphology of rat endometrial tissue was observed by hematoxylin-eosin staining.The levels of basic fibroblast growth factor,insulin-like growth factor 1,and vascular endothelial growth factor in endometrial tissues were analyzed by enzyme-linked immunosorbent assay.The expression levels of vimentin and CD34 in endometrial tissues were analyzed by immunohistochemical staining.RESULTS AND CONCLUSION:(1)Both kinds of extracellular matrix materials were beneficial to the proliferation of bone marrow mesenchymal stem cells.Compared with bladder extracellular matrix materials,amniotic extracellular matrix materials could promote the adhesion of bone marrow mesenchymal stem cells.(2)Compared with the sham operation group,the levels of basic fibroblast growth factor,insulin-like growth factor 1,and vascular endothelial growth factor were significantly decreased(P<0.01),endometrial tissue was dysplastic,endometrial thickness and number of glands were significantly decreased,and vimentin and CD34 positive expression levels were significantly decreased(P<0.01)in the endometrial injury group.Compared with the endometrial injury group,the levels of basic fibroblast growth factor,insulin-like growth factor 1,and vascular endothelial growth factor were increased(P<0.05 or P<0.01),the endometrial tissue morphology was significantly improved,and the endometrial thickness and the number of glands were significantly increased;the positive expressions of vimentin and CD34 were significantly increased(P<0.05 or P<0.01)in the amniotic extracellular matrix group and the bladder extracellular matrix group,and the improvement of amniotic extracellular matrix group was better than that of bladder extracellular matrix group(P<0.05).(3)The results show that compared with bladder extracellular matrix materials,amniotic extracellular matrix material as a carrier of bone marrow mesenchymal stem cells can further promote the repair of damaged endometrium.

OBJECTIVE: To explore the genetic testing outcomes of a fetal family with Thyroid dyshormonogenesis type 5 (TDH5) and familial Neurofibromatosis type 1 (NF1), and to clarify the association between clinical manifestations and genetic variations. METHODS: One case of a TDH5 combined with familiar NF1 fetus treated at Gansu Maternal and Child Health Hospital in January 2024 was selected as the research subject. The clinical and family history data of the fetus were collected by retrospective research method. 10-15 mL of fetal amniotic fluid, and 2-3 mL of peripheral blood from the parents, sister, and grandfather of the fetus were collected, and genomic DNA was extracted for trio whole-exome sequencing (trio-WES). The Sanger sequencing was utilized to validate candidate variants for family verification. According to the Standards and Guidelines for the Interpretation and Reporting of Sequence Variants of the American Society of Medical Genetics and Genomics (ACMG) (hereafter referred to as the ACMG guidelines), the pathogenicity of the detected variants was classified. This study has been approved by the Medical Ethics Committee of Gansu Maternal and Child Health Hospital [Ethics No.（2021）GSFY（65）]. RESULTS: The fetal ultrasound indicated the nuchal translucency (NT) thickening, and the thyroid function test results of the sister showed an increase in thyroid stimulating hormone and a decrease in free thyroid hormone. Simultaneously, there were cafe-au-lait macules of various sizes in multiple parts of the body of the sister, and the mother had a similar cafe-au-lait macules phenotype. The trio-WES results revealed that there was a c.413dupA (p.Tyr138*) frameshift mutation in exon4 and c.573G>A (p.Trp191*) nonsense mutation in exon5 of the fetal DUOXA2, which were inherited from the mother and father, respectively. In accordance with the ACMG guidelines, they were classified as pathogenic variant (PVS1+PM2_Supporting+PM3) and likely pathogenic variant (PVS1+PM2_Supporting), respectively. And the nonsense mutation c.6972C>A (p.Tyr2264*) was detected in exon46 of the NF1 in the fetus, inherited from the mother maternal grandfather. The genetic testing results of the first sister and proband in this case were consistent, and the DUOXA2 and NF1 of the second sister were both wild-type. According to the ACMG guidelines, c.6972C>A (p.Tyr2264 *) was classified as pathogenic variant (PVS1+PS4_Supporting+PP4+PM2_Supporting). CONCLUSION The mutations in the DUOXA2 gene c.413dupA (p.Tyr138*) and c.573G>A (p.Trp191*), and the NF1 gene c.6972C>A (p.Tyr2264*) might be the genetic causes of TDH5 combined with familiar NF1 in proband. The discovery of the DUOXA2 gene c.573G>A (p.Trp191*) enriches the spectrum of pathogenic gene variations.
Humans ; Female ; Pedigree ; Pregnancy ; Neurofibromatosis 1/complications* ; Male ; Genetic Testing ; Adult ; Thyroid Dysgenesis/genetics* ; Fetus ; Exome Sequencing ; Mutation