1.Precise identification of a cryptic balanced translocation in a couple with recurrent spontaneous abortions using C-MoKa technique.
Rui FAN ; Yaru LIU ; Tingting JI ; Xiaojuan XU ; Xuening DING ; Xiaoling MA
Chinese Journal of Medical Genetics 2026;43(1):64-69
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
2.Analysis of depressive symptoms and predictive factors in children and adolescents in Inner Mongolia Autonomous Region
Guiwei CHEN ; Lu TONG ; Ziyu LI ; Xiaojuan GAO ; Ruiqi WANG ; Xiaolu ZHANG ; Le LIU ; Yinxia BAI
Sichuan Mental Health 2026;39(1):83-88
BackgroundIn recent years, the incidence of depression among adolescents has been increasing steadily, posing a serious threat to their physical and mental health and even leading to severe consequences such as self-harm and suicide. At the same time, the detection rate of subclinical depression symptoms among adolescents is even higher. Although these symptoms do not meet the clinical diagnostic criteria, they have significantly affected their quality of life, and their persistence over time may further develop into depression. Therefore, in-depth exploration of adolescent depression symptoms and the predictive factors holds significant practical significance and research value. However, up to now, no large-scale investigation and research on depression symptoms among children and adolescents has been conducted in Inner Mongolia Autonomous Region. ObjectiveTo understand the prevalence of depressive symptoms among children and adolescents in Inner Mongolia Autonomous Region, in order to provide references for formulating scientific and effective prevention strategies and intervention measures. MethodsBy using the cluster stratified random sampling method, 6 281 students from the third grade of primary school to the second grade of high school in 12 leagues and cities of Inner Mongolia Autonomous Region were selected in March 2024. A self-designed questionnaire and the Self-rating Depression Scale (SDS) were used for on-site investigation. ResultsA total of 6 058 (96.45%) children and adolescents completed the valid questionnaire survey, and 2 728 cases (45.03%) were found to have depressive symptoms. There were statistically significant differences in the detection rates of depressive symptoms among children and adolescents of different genders, ages, whether they were only children, different family types, family monthly income, parents' educational levels, and whether the mother was employed (χ2=33.769, 40.618, 48.593, 29.972, 142.648, 195.999, 168.190, 5.445, P<0.05 or 0.01).The results of the Logistic regression analysis showed that for children and adolescents, being female, aged between 12 and 16, over 16 years old, not being an only child, living in a reconstituted family, having a monthly family income of less than 5 000 yuan, and having parents with an education level of primary school or below were predictors of depressive symptoms (OR=1.241, 1.427, 1.273, 1.177, 1.549, 1.278, 1.462, 1.417, 1.514, 1.929, 1.660, 1.528, P<0.05 or 0.01). ConclusionThe detection rate of depressive symptoms among children and adolescents in Inner Mongolia Autonomous Region is relatively high. Factors that may predict depressive symptoms in children and adolescents include female gender, ages between 12 and 16, ages over 16 years old, non-only children, families with a restructured structure, monthly family income of less than 5 000 yuan, and parents with an education level of primary school or below. [Funded by Science and Technology Planning Project of the Inner Mongolia Autonomous Region (number, 2022YFSH0119)]
3.Novel therapeutic advances for uveal melanoma
Xiaodie LI ; Chaoqun LIU ; Xiaojuan CHENG ; Yuhan SHANG ; Ruixue REN ; Yulu HE ; Xiaoli YANG
International Eye Science 2026;26(5):823-830
Uveal melanoma(UM)is the most common primary intraocular malignancy in adults, characterized by high invasiveness and unique metastatic biological features. Although local treatments(such as proton beam therapy and brachytherapy)can effectively control the primary lesion, approximately 50% of patients eventually develop distant metastasis, with the liver being the primary target organ(occurring in 90% of cases). This highlights a paradigm shift in treatment focus from mere local control to systemic prevention and management. For metastatic UM(mUM), current treatment strategies encompass biomarker-guided molecular targeted therapy, immunotherapy(including Tebentafusp, vaccines, and oncolytic virus therapy), and liver-directed therapy. Focusing on the synergy between local and systemic prevention and control, this article systematically elaborates on the precision local treatment for primary UM, the decision-making pathway for systemic treatment of metastatic UM based on molecular subtyping, the integration of local and systemic therapies for liver metastases, and the translational value of nanomedicine in addressing therapeutic bottlenecks. It provides insights for optimizing clinical management of mUM and developing novel therapeutic strategies.
4.Investigation of natural radionuclide activity indrinking water in Hohhot, China
Bo JU ; Gerilemandahu ; Yulong BAO ; Shuai ZHANG ; Xiang LIU ; Haribala ; Xiao XU ; Zhichao SUN ; Xiaojuan YANG
Chinese Journal of Radiological Health 2026;35(2):159-164
Objective :
To investigate the activity concentrations of natural radionuclides in drinking water (tap water andwell water) in urban and rural areas of Hohhot, assess the safety of drinking water, and to provide data support for localdrinking water radioactivity monitoring and management.
Methods :
Representative samples of well water and tap waterwere collected from nine banners/counties/districts in Hohhot. Activity concentrations were measured using a low-back-ground gross α/β counter, an α spectrometer, inductively coupled plasma mass spectrometry, and a radium/radon analyzer.
Results :
A total of nine tap water samples and nine well water samples were analyzed. For the tap water samples, gross αactivity concentrations ranged from 0.093 to 0.193 Bq/L, gross β from 0.091 to 0.225 Bq/L, uranium mass concentrationsfrom 2.32 to 10.36 μg/L, thorium mass concentrations from 0.09 to 0.20 μg/L,210Po activity concentrations from below theminimum detectable limit to 0.41 mBq/L, and 226Ra activity concentrations from 8.70 to 13.35 mBq/L. For the well watersamples, gross α activity concentrations ranged from 0.111 to 0.203 Bq/L, gross β from 0.111 to 0.270 Bq/L, uranium massconcentrations from 2.31 to 13.28 μg/L, thorium mass concentrations from 0.17 to 0.26 μg/L,210Po activity concentrationsfrom 1.03 to 2.12 mBq/L, and 226Ra activity concentrations from 15.38 to 23.63 mBq/L.
Conclusion
The activityconcen-trations of natural radionuclides in both well water and tap water in the Hohhot region were at environmental backgroundlevels and met national drinking water hygiene standards.
5.Clinical Characteristics and Early Risk Factors for Toxic Encephalopathy in Acute Diquat Poisoning
Yihong YANG ; Jiawei LI ; Xiaojuan LIU ; Qiqi LIU ; Hongbo LIU ; Guanghua XIONG ; Yecheng LIU
Medical Journal of Peking Union Medical College Hospital 2025;16(5):1229-1235
To analyze the clinical characteristics of acute diquat poisoning complicated by central nervous system injury (CNSI) and identify early risk factors, aiming to provide a theoretical basis for reducing mortality in diquat poisoning with CNSI. Clinical data from patients with acute diquat poisoning admitted to the Emergency Department of Fuyang People's Hospital Affiliated to Anhui Medical University between October 2019 and October 2024 were retrospectively analyzed. Patients were divided into CNSI and non-CNSI groups based on complications. Clinical features were compared between groups, and variables with statistical significance were subjected to binary logistic regression to identify independent risk factors for CNSI. Receiver operating characteristic (ROC) curves were generated to evaluate the predictive value of these factors. A total of 63 eligible patients were included, with 18 deaths (28.57%) and 26 cases (41.27%) complicated by CNSI. The median time from diquat ingestion to CNSI onset was 15.5 (9.8, 31.3) hours. The CNSI group exhibited significantly higher mortality rates and required more frequent respiratory support and anti-shock therapy than the non-CNSI group (all CNSI is a fatal complication of acute diquat poisoning with high mortality. Diquat plasma concentration (≥549.95 μg/L) and APACHE Ⅱ score are independent risk factors for CNSI, and their combined application enhances predictive accuracy. These findings underscore the importance of early risk stratification and targeted interventions in high-risk populations.
6.Acupuncture at "four pharyngeal points" combined with Changma Xifeng tablets for simple vocal tics with liver hyperactivity disturbed wind in children: a randomized controlled trial.
Enjie WANG ; Liping LIU ; Yange WEN ; Senhui HE ; Jing LI ; Xiaojuan ZHENG ; Yaqi GENG
Chinese Acupuncture & Moxibustion 2025;45(11):1577-1581
OBJECTIVE:
To observe the effect of acupuncture at "four pharyngeal points" on simple vocal tics with liver hyperactivity disturbed wind in children.
METHODS:
Sixty children with simple vocal tics of liver hyperactivity disturbed wind were randomly divided into an observation group (30 cases, 1 case dropped out) and a control group (30 cases). The control group was given Changma Xifeng tablets orally, 3 times a day, while the observation group was treated with acupuncture at "four pharyngeal points" on the basis of the treatment in the control group, 15-20 min a time, once daily for 7 days, with a 3-day break. Both groups were treated for 3 months. The TCM syndrome score and Yale global tic severity scale (YGTSS) score of the two groups were observed before treatment and after 1, 2, 3 months of treatment, the disappearance time of simple vocal tics was recorded, and the therapeutic efficacy was evaluated after treatment.
RESULTS:
After 1, 2, 3 months of treatment, the TCM syndrome scores and YGTSS scores of the two groups were decreased compared with those before treatment (P<0.01, P<0.05), and the scores of the observation group were lower than those in the control group (P<0.05, P<0.01). The disappearance time of simple vocal tics in the observation group was earlier than that in the control group (P<0.05). The effective rate of the observation group was 93.1% (27/29), which was higher than 73.3% (22/30) in the control group (P<0.05).
CONCLUSION
Acupuncture at "four pharyngeal points" could improve symptoms in children with simple vocal tics of liver hyperactivity disturbed wind, and shorten the disappearance time of simple vocal tics.
Humans
;
Male
;
Acupuncture Points
;
Female
;
Child
;
Acupuncture Therapy
;
Drugs, Chinese Herbal/administration & dosage*
;
Child, Preschool
;
Liver/drug effects*
;
Tics/drug therapy*
;
Treatment Outcome
7.Identification strategy of cold and hot properties of Chinese herbal medicines based on artificial intelligence and biological experiments.
Lin LIN ; Pengcheng ZHAO ; Zhao CHEN ; Bin LIU ; Yuexi WANG ; Qi GENG ; Li LI ; Yong TAN ; Xiaojuan HE ; Li LI ; Jianyu SHI ; Cheng LU
Chinese Medical Journal 2025;138(6):745-747
8.Establishment and optimization of a high-performance size-exclusion chromatography method for quantifying the classical swine fever virus E2 protein.
Xiaojuan ZHANG ; Bo YANG ; Gaoyuan XU ; Mingxing REN ; Ji TANG ; Hongshuo LIU ; Zhankui LIU ; Yafei LI ; Xiangru WANG
Chinese Journal of Biotechnology 2025;41(7):2774-2788
This study aims to establish a high-performance size-exclusion chromatography (HPSEC) method for determining the content of the classical swine fever virus (CSFV) E2 protein and screen the optimal stabilizer to enhance the stability of this protein. The optimal detection conditions were determined by optimizing the composition of the mobile phase, and characteristic chromatographic peaks were identified by SDS-PAGE and Western blotting. The specificity, repeatability, precision, linearity, limit of detection (LOD), and limit of quantitation (LOQ) of the method were assessed. The method established was used to determine the content of CSFV E2 protein antigen and vaccine. Differential scanning fluorimetry (DSF) was employed to screen the buffer system, pH, and salt ion concentrations, and sugar, amino acid, and alcohol stabilizers were further screened. The results showed that using a 200 mmol/L phosphate buffer provided the best column efficiency. An antigen-specific chromatographic peak appeared at the retention time of 18 min, which was identified as the CSFV E2 protein by SDS-PAGE and Western blotting. The method exhibited high specificity for detecting the CSFV E2 protein, with no absorbance peak observed in the blank control. The relative standard deviation (RSD) of the peak area for six repeated injections of the CSFV E2 protein was 0.74%, indicating good repeatability of the method. The RSD for repeated detection of two different concentrations of CSFV E2 protein samples by different operators at different time points was less than 2%, suggesting good intermediate precision of the method. The peak area of the CSFV E2 protein was linearly related to its concentration, with the regression equation showing R2 of 1.000. The LOD and LOQ of the method were 14.88 μg/mL and 29.75 μg/mL, respectively. Application of the developed method in the detection of three batches of CSFV E2 protein antigen and three batches of vaccine demonstrated results consistent with those from the bicinchoninic acid (BCA) assay, which meant that the method could accurately determine the content of CSFV E2 protein antigen and vaccine. The DSF method identified 50 mmol/L Tris-HCl at pH 8.0 as the optimal buffer, and the addition of sugar and alcohol stabilizers further improved the stability of the CSFV E2 protein. The HPSEC method established in this study is simple, fast, and exhibits good accuracy and repeatability, enabling precise measurement of the CSFV E2 protein content. It is expected to play a crucial role in the quality control of the CSFV E2 vaccine. Furthermore, the strategy for improving the CSFV E2 protein stability, identified through DSF screening, has significant implications for enhancing the stability of the CSFV E2 vaccine.
Classical Swine Fever Virus/chemistry*
;
Chromatography, Gel/methods*
;
Animals
;
Swine
;
Viral Envelope Proteins/immunology*
9.Effect of tiragolumab on the function of CD8+T cells in patients with triple-negative breast cancer
Songlin GUO ; Miao LIU ; Xiaojuan YANG ; Xiangguo DUAN ; Chunxia SU
Journal of Chongqing Medical University 2025;50(9):1218-1227
Objective:To observe the expression of T cell immunoglobulin and immunoreceptor tyrosine-based inhibitory motif domain(TIGIT)in tumor tissue and peripheral blood CD8+T cells in patients with triple-negative breast cancer(TNBC),and to explore the ef-fect of tiragolumab on the function of CD8+T cells in the peripheral blood of these patients.Methods:The expression of TIGIT in tumor tissue of patients with TNBC was analyzed using The Cancer Genome Atlas(TCGA)database and immunohistochemical staining.Flow cytometry was employed to assess the co-expression of TIGIT and programmed death-1(PD-1)in peripheral blood CD8+T cells,as well as their cytokine secretion.A co-culture model of CD8+T cells and TNBC cell lines,HCC-1937 and MDA-MB-231,was estab-lished.The effect of tiragolumab on the anti-tumor activity of CD8+T cells in patients with TNBC was investigated using flow cytometry and confocal fluorescence imaging.Results:The expression of TIGIT in tumor tissue and peripheral blood CD8+T cells of patients with TNBC was significantly increased(P<0.05).Compared with the healthy control group,the TNBC group showed a significantly larger number of TIGIT+PD-1+CD8+T cells in the peripheral blood and significantly reduced secretion of interferon gamma(IFN-γ),tumor necrosis factor-α(TNF-α),and ginkgolide B(GB)by CD8+T cells;specifically,TIGIT+CD8+T cells demonstrated significantly re-duced secretion compared with TIGIT-CD8+T cells(P<0.05).Fol-lowing treatment with tiragolumab,TIGIT+CD8+T cells exhibited increased secretion of IFN-γ and TNF-α(P<0.05).In the co-culture model,tiragolumab restored the apoptosis-inducing ability of CD8+T cells in patients with TNBC,and this ability was further enhanced when it was combined with envafolimab.Conclusion:Ti-ragolumab restores the tumor-killing function of CD8+T cells by im-proving their immunosuppression.The combination of tiragolumab with envafolimab can further enhance its anti-tumor effect.
10.The regulatory effect of sacubitril/valsartan on intestinal microbiota in rats with right ventricular remodeling induced by hypoxic pulmonary hypertension:a metagenomics analysis
Hongjuan LIU ; Juan DU ; Yue LIN ; Xiaojuan AN ; Ming REN
Journal of Chongqing Medical University 2025;50(10):1408-1417
Objective:To explore the effect of sacubitril/valsartan(LCZ696)on intestinal microbiota and serological parameters associ-ated with its derived metabolites in rats with right ventricular remodeling due to hypoxic pulmonary hypertension(HPH).Methods:A total of 24 male rats were randomly divided into Control group,Hypoxia group,and H-LCZ696 group.Since day 1,the rats in the H-LCZ696 group were given LCZ696 by gavage,while those in the other two groups were given normal saline by gavage,both for 4 con-secutive weeks.Related indicators were measured after experiment,including hemodynamics,color Doppler ultrasound of right heart,and right ventricular remodeling.Histopathological staining and transmission electron microscopy were used to observe tissue struc-tures;the metagenomics technique was used to analyze the characteristics and functional annotation of intestinal microbiota in the fe-ces of the rats;ELISA was used to measure the serological parameters of the metabolites derived from intestinal microbiota.Results:There was a significant difference in mean pulmonary arterial pressure(mPAP)between the three groups of rats(F=101.797,P=0.000).Compared with the Control group,the Hypoxia group had an increase in mPAP,a reduction in right ventricular function,and in-creases in the indicators for pulmonary vascular remodeling and right ventricular remodeling.Compared with the Hypoxia group,the H-LCZ696 group had a reduction in mPAP,an improvement in right ventricular function,and reductions in the indicators for pul-monary vascular remodeling and right ventricular remodeling.Trans-mission electron microscopy showed that the Hypoxia group had disordered myocardial myofibrils of the right ventricle and mitochon-drial swelling,while such ultrastructural damage was improved after LCZ696 intervention.The metagenomics analysis showed that the Hypoxia group had a reduction in the diversity of intestinal microbiota,with increases in the abundance of pathogenic bacteria(such as Proteobacteria,Prevotella,and Clostridium)and reductions in the abundance of probiotic bacteria(such as Lachnospiraceae and Lacto-bacillus),and such changes were partially reversed after LCZ696 intervention,with inhibition of the proliferation of pathogenic bacteria such as Clostridiales,the failure to restore the diversity of intestinal microbiota,and a further reduction in the abundance of some probi-otic bacteria(such as Lactobacillus).ELISA showed that compared with the Control group,the Hypoxia group had increases in the serum levels of pro-inflammatory metabolites,and compared with the Hypoxia group,the H-LCZ696 group had reductions in the se-rum levels of pro-inflammatory metabolites.Conclusion:LCZ696 can alleviate right ventricular remodeling in HPH and regulate pathogenic bacteria and serum pro-inflammatory metabolites,with a main therapeutic effect on the cardiovascular system and a regula-tory effect on intestinal microbiota.

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