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
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Humans
;
Male
;
Pregnancy
;
Abortion, Habitual/genetics*
;
DNA Copy Number Variations
;
Karyotyping/methods*
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Preimplantation Diagnosis
;
Translocation, Genetic
2.Mechanism of Dihuangyin in Treatment of Mice with Atopic Dermatitis by Regulating JAK1/STAT3 Signaling Pathway
Xuening MA ; Juncheng ZHANG ; Teng YU ; Suqing YANG ; Xiaowen WEN ; Shulin JIA ; Suitian WANG ; Jielin ZHANG
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(10):11-19
ObjectiveTo investigate the effect and potential mechanism of Dihuangyin on 2, 4-dinitrochlorobenzene (DNCB) -induced model mice with atopic dermatitis (AD). MethodA mouse model with AD was established by repeatedly stimulating the back skin of mice with DNCB. After successful modeling, the mice were randomly divided into model group, Runzao group (0.78 g·kg-1), and high, medium, and low dose (40.30, 20.15, and 10.08 g·kg-1) groups of Dihuangyin, with 12 mice in each group, and the blank group consisted of 12 mice, 72 in total. The administration groups were given the corresponding liquid by dose, and the blank group and model group were given the same dose of pure water by intragastric administration, once a day. The skin lesions and scratching times of mice were observed after continuous administration for two weeks. The back skin lesions of mice were stained with hematoxylin-eosin (HE) and toluidine blue to observe the pathology. The contents of serum immunoglobulin E (IgE), interleukin-4 (IL-4), interleukin-6 (IL-6), and interferon-γ (IFN-γ) were detected by enzyme-linked immunosorbent assay (ELISA). The mRNA expression levels of IFN-γ, IL-4, IL-6, Janus kinase 1 (JAK1), and transcriptional activator 3 (STAT3) in skin lesion tissue were detected by Real-time fluorescence quantitative polymerase chain reaction (Real-time PCR). The expressions of JAK1, phosphorylation(p)-JAK1, STAT3, and p-STAT3 proteins in skin lesion tissue were detected by Western blot. ResultCompared with the blank group, the back skin of the model group showed large-scale scab, dryness, erosion, hypertrophy with scratching, epidermal hyperplasia with hyperkeratosis and parakeratosis, hyperacanthosis with edema, and a large number of mast cell infiltration in the dermis, some of which were degranulated. The contents of IgE, IL-4, IL-6, and IFN-γ in the serum of mice were significantly increased (P<0.01), and the protein expression levels of p-JAK1, STAT3, and p-STAT3 and mRNA expressions of IL-4, IL-6, IFN-γ, JAK1, and STAT3 in skin lesion tissue were significantly increased (P<0.01). Compared with the model group, only a small amount of dryness and desquamation were observed in the back skin of mice in each administration group, and cell edema was reduced. The inflammatory infiltration was significantly reduced, and the number of mast cell infiltration was significantly decreased. The serum IgE, IL-4, IL-6, and IFN-γ of mice were decreased to varying degrees (P<0.05, P<0.01). The protein expression levels of p-JAK1, STAT3, and p-STAT3 and mRNA expressions of IL-4, IL-6, IFN-γ, JAK1, and STAT3 in skin lesion tissue were significantly decreased, and the effect of high dose group of Dihuangyin was the best (P<0.01). ConclusionDihuangyin can improve skin lesions and pruritus in mice with AD, and its mechanism may be related to the effective regulation of cytokines on the helper T cells (Th1)/Th2 axis by interfering with the JAK1/STAT3 signaling pathway and affecting skin barrier function.
3.Influence of King's theory of goal attainment combined with goal setting on the effect of standardized training of general practitioners
Guizhi WANG ; Maimaiti MAYILA· ; Xuening MA ; Wusiman REYILA· ; Xia WANG ; Peilan XU
Chinese Journal of Medical Education Research 2022;21(7):925-929
Objective:To explore the impact of King's theory of goal attainment combined with goal setting on the effect of standardized training of general practitioners.Methods:A total of 39 general practitioners who underwent the standardized training in The Fifth Affiliated Hospital of Xinjiang Medical University from January 2019 to January 2020 were classified as control group, and traditional teaching was adopted. Another 42 general practitioners who underwent the training in The Sixth Affiliated Hospital of Xinjiang Medical University during the same period were classified as a research group, and the teaching based on King's theory of goal attainment combined with goal setting was adopted. The theoretical knowledge and operational skills scores, changes in clinical comprehensive ability before and after the training, and teaching recognition were compared between the two groups. SPSS 25.0 was used for t test and chi-square test. Results:After the training, the scores of theoretical knowledge and operation skills of the research group were both higher than those of the control group [(92.83±5.62) vs. (85.47±12.11); (90.15±7.22) vs.(83.36±11.24)]. There was no significant difference between the two groups in the scores of inquiry and communication ability, problem-solving ability, general medical thinking ability, interpretation ability of auxiliary examination results, clinical analysis and decision-making ability, team cooperation ability, community common disease diagnosis and treatment ability and humanistic care ability before the training ( P>0.05); the above scores were all improved after the training ( P<0.05), and the above scores of the research group were significantly higher than those of the control group ( P<0.05). The total recognition of teaching in the research group was 95.24%(40/42), which was significantly higher than that 76.92%(30/39) in the control group ( P<0.05). Conclusion:The application of King's theory of goal attainment combined with goal setting in standardized training of general practitioners can effectively improve the level of general practitioners' theoretical knowledge, operational skills, clinical comprehensive ability and recognition of teaching.
4. Optimal dose of dexmedetomidine to prevent nausea and vomiting when used for postoperative analgesia after gynecological laparoscopic surgery
Zhenjing LIU ; Yi CHEN ; Xuening XING ; Yuxue QIU ; Songmei MA ; He SUN ; Baisha LIU ; Li KONG
Chinese Journal of Anesthesiology 2019;39(9):1095-1098
Objective:
To determine the optimal dose of dexmedetomidine required to prevent nausea and vomiting when used for postoperative analgesia after gynecological laparoscopic surgery.
Methods:
A total of 135 patients, aged 18-60 yr, weighing 52-80 kg, of American Society of Anesthesiologists physical status Ⅰ or Ⅱ, scheduled for elective gynecological laparoscopic surgery, were divided into 3 groups (
5.Clinicopathological characteristics and risk factors of female breast hyperplasia in different age groups
Fei WANG ; Shuohao SHEN ; Liyuan LIU ; Qi WANG ; Hongchuan JIANG ; Lisong TENG ; Zhimin FAN ; Cuizhi GENG ; Feng JIN ; Lili TANG ; Jianguo ZHANG ; Xiang WANG ; Shu WANG ; Xuening DUAN ; Lixiang YU ; Fei ZHOU ; Yujuan XIANG ; Shuya HUANG ; Chao ZHENG ; Qinye FU ; Dezong GAO ; Liang LI ; Zhongbing MA ; Qiang ZHANG ; Zhigang YU
Chinese Journal of General Surgery 2019;34(3):235-239
Objective To analyze clinicopathological characteristics and the potential risk-related factors of female breast hyperplasia in different age groups.Method From Jan 2015 to Dec 2016,patients diagnosed with breast hyperplasia in 12 hospitals were evaluated.All patients completed the self-designed questionnaires on women'health,including basic demographic information,clinic examination information,radiologic information and pathologic results.The patients were divided into a young group (< 45 years old) and an elderly group (from 45 to 75 years old).Results There were 3 684 cases of breast hyperplasia,including 2 291 cases in young group and 1 393 cases in elder group,respectively Clinically breast pain type were most commonly observed in both young and older groups (50.3% vs.42.7%,P < 0.001).While pathological research based on biopsy showed that breast adenopathy were the most common changes in both groups (67.9% vs.61.7%,P <0.001).More breast cancer cases were identified in elder group than that in young group,especially in clinically lump type patients (9.4% vs.4.2%,P < 0.001).Compared with elder group,patients in young group have different distribution characteristics regarding to fertility factors,lifestyle factors and psychology scale including anxiety and depression.Conclusion Distributions of clinicopathological characteristics and risk factors of female breast hyperplasia differ across different age groups.
6.Clinical effects on reattachment and pulpotomy of young crown-fractured and pulp-exposed permanent incisors
QUAN Jiamiao ; GU Xuening ; MA Liqiong ; HU Xiaoyan ; LI Song
Journal of Prevention and Treatment for Stomatological Diseases 2018;26(5):309-313
Objective :
The present study observed the clinical effects on reattachment and pulpotomy of young crown-fractured and pulp-exposed permanent incisors.
Methods :
In a one-year retrospective clinical observation study, 30 traumatic intact segments of permanent incisors with crown fracture and pulpal exposure were treated using a pulpotomy and reattachment technique with an enamel-dentin luting agent and composite resin.
Results :
The number of subsequent visit teeth was 30, 29, 25 at 1, 3, 6 months follow-up respectively. The pulpotomy success rates were 100% at 1 month, 93.1% at 3 months, 93.1% at 6 months. The retention rates using the reattachment technique were 100% at 1 month, 100% at 3 months, 100% at 6 months.
Conclusion
Pulpotomy is the preferred method of preserving live pulp after pulpal exposure of young permanent incisors, and the clinical effect is prominent. The fragment reattachment technique is an effective middle- and short-term method for temporary restoration of young crown-fractured permanent incisors.
7. Dynamic variation trend and prognostic value of bronchial wall thickness in severely burned patients combined with inhalation injury
Xin WANG ; Xuening ZHANG ; Menglin WU ; Licong JIA ; Li′na XIE ; Yue MENG ; Shihai FENG ; Wei MA
Chinese Journal of Burns 2018;34(4):208-213
Objective:
To explore the dynamic variation trend of bronchial wall thickness (BWT) in severely burned patients combined with inhalation injury, and to determine the value of BWT to prognosis of patients.
Methods:
Forty-three severely burned patients with inhalation injury hospitalized in Intensive Burn Department of the Affiliated Hospital of Nankai University (Tianjin No.4 Hospital) from July to November 2016, conforming to the study criteria, were divided into survival group (
8.Changed default mode network functional connectivity one month after liver transplantation
Yue CHENG ; Wen SHEN ; Lixiang HUANG ; Li ZHANG ; Ming MA ; Xuening ZHANG
Chinese Journal of Radiology 2016;50(5):339-343
Objective To investigate the short?term functional connectivity (FC) changes of default mode network (DMN) after liver transplantation (LT) by using seed?based functional connectivity analysis of resting?state functional MRI (rs?fMRI). Methods Eighteen cirrhotic patients as transplant candidates and 20 healthy controls were included in this study. All the patients underwent rs?fMRI examination before and one month after LT. The data were analyzed using DPARSF and REST software. Seed?based functional connectivity analysis was used to isolate the DMN. The posterior cingulate cortex (PCC) was chosen as seed region for the DMN map. Maps of the DMN were compared among the groups. Values of Z reflecting the functional connectivity of 3 groups were obtained. Two?sample t?test was performed to explore the DMN difference between cirrhotic patients and controls, and we used paired t tests to examine for any differences in functional connectivity before and after LT. Pearson correlation analysis was performed to explore the relationship between the changes of functional connectivity with that of clinical indexes and neuropsychological test scores pre?and post?LT. Results Typically spatial distributions of the DMN were found in all the groups. According to paired t test, post?LT patients showed increased FC in left medial prefrontal cortex (t=3.31, P<0.05), while decreased FC in left precuneus and left lateral temporal cortex (t=-3.37,-4.53,respectively, both P<0.05). Compared to healthy controls, pre?LT patients showed decreased FC in the right precuneus, bilateral medial prefrontal cortex, bilateral inferior parietal cortex, and bilateral lateral temporal cortex(t=-4.32—3.00, all P<0.05), and post?LT patients showed decreased FC in right precuneus, left posterior cingulate cortex, bilateral inferior parietal cortex, and bilateral lateral temporal cortex(t=-4.33—2.99,all P<0.05). Pearson correlation analysis revealed positively correlation between the changes of functional connectivity in left medial prefrontal cortex with that of DST (r=0.543, P=0.02). Conclusions This study found that the DMN FC of post?LT patients still lower than that of healthy controls one month after LT. The left medial prefrontal cortex was the first brain region that showed increased FC, while the FC of some regions continued to decrease, suggesting that brain function reorganization can continue after LT. Rs?fMRI can be used to observe the DMN changes in post?LT patients.
9.Efficacy of lumbar discectomy, radiofrequency ablation and annuloplusty performed with Disc-FX system under guidance of C-arm in treatment of discogenic low back pain
Jun WANG ; Xuening ZHANG ; Qinglai XIA ; Baosen ZHENG ; Kemei SHI ; Wenting MA ; Jingzhi LIU
Chinese Journal of Anesthesiology 2013;(4):430-432
Objective To evaluate the efficacy of lumbar discectomy,radiofrequency ablation and annuloplusty performed with Disc-FX system under the guidance of C-arm in treatment of discogenic low back pain.Methods Twenty-eight patients with discogenic low back pain,with VAS score greater than 7,aged 27-73 yr,underwent lumbar discectomy,radiofrequency ablation and annuloplusty performed using Disc-FX system under the guidance of C-arm.The patients were followed up for 2 months after surgery and pain was assessed using VAS score.VAS scores were recorded before surgery,and at 7 and 14 days and 1 and 2 months after surgery.The effective analgesia was recorded according to VAS scores.The therapeutic effect was evaluated according to Macnab standard 2 months after surgery.Results VAS scores were significantly lower at each time point after surgery than before surgery (P < 0.05).The rate of effective analgesia was 93 % at 2 months after surgery.The excellent and good rate of the therapeutic effect evaluated was 93 %.One female patient developed injury to lumbar venous plexus,and no patients developed infection of intervertebral disk,nerve root injury or spinal cord injury.Conclusion The excellent and good rate is 93 % when lumbar discectomy,radiofrequency ablation and annuloplusty performed using Disc-FX system is used for treatment of discogenic low back pain under the guidance of C-arm,with fewer side effects.
10.Prognostic factor analysis of pneumonectomy for non-small cell lung cancer.
Xin WANG ; Gang MA ; Tiehua RONG ; Zhifan HUANG ; Mingtian YANG ; Canguang ZENG ; Peng LIN ; Hao LONG ; Jianhua FU ; Siyu WANG ; Xuening YANG
Chinese Journal of Surgery 2002;40(8):567-570
OBJECTIVESTo identify predictors of survival following pneumonectomy for non-small cell lung cancer (NSCLC) and provide evidence for the revision of patient selection criteria.
METHODS81 cases of pneumonectomy for NSCLC from January 1990 to May 1996 at our hospital were reviewed retrospectively. There were 65 men (80.2%) and 16 women (19.8%), with a mean age 53.4 +/- 9.4 years (range 20 - 68 years). Predominant histological types included squamous cell carcinoma (54.3%), adenocarcinoma (24.7%), and squamoadenocarcinoma (17.3%). After follow-up for more than 5 years, data were examined using the chi-square test, Kaplan-Meier method, and Cox-mantel test. The possible factors affecting survival were tested with univariate and multivariate analysis.
RESULTSThe 5-year survival of N(0), N(1) and N(2) disease of NSCLC following pneumonectomy was (20.8 +/- 9.9)%, (15.4 +/- 10.0)% and (4.0 +/- 2.8)%, respectively. There was no perioperative death. The operative complications morbidity was 22.2%. Factors adversely affecting survival with univariate analysis included age over 60 years for right pneumonectomy, cardiopulmonary complications, adenocarcinoma, peripheral location, tumor greatest dimension more than 10 cm, chest wall involvement and N(2) disease. Factors adversely affecting survival with multivariate analysis included cardiopulmonary complications, greatest tumor dimension more than 10 cm, chest wall involvement and N(2) disease.
CONCLUSIONSPneumonectomy provides survival benefit with a high operative complications morbidity. Old age (>/= 60 years) for right pneumonectomy, cardiopulmonary complications, adenocarcinoma, and N(2) disease may be negative prognostic factors of long-term survival. Patient selection should be based on cardiopulmonary evaluation and the stage of disease.
Adult ; Aged ; Carcinoma, Non-Small-Cell Lung ; mortality ; pathology ; surgery ; Female ; Humans ; Lung Neoplasms ; mortality ; pathology ; surgery ; Male ; Middle Aged ; Neoplasm Staging ; Pneumonectomy ; Prognosis ; Retrospective Studies ; Survival Rate


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