1.Risk factors of malaria infection and risk prediction model research in in labor export in Langfang City
Xuejun ZHANG ; Kun ZHAO ; Jing ZHAO ; ZHUO WANG ; Qiang GUO ; Jie XIAO ; Juanjuan GUO ; Jinhong PENG
Journal of Public Health and Preventive Medicine 2025;36(1):118-122
Objective To analyze the influencing factors of malaria infection of labor service exported to overseas in Langfang City, in order to establish a visualization tool to assist clinicians in predicting the risk of malaria. Methods A total of 4 774 expatriate employees of the Nibei Pipeline Project of the Pipeline Bureau from October 2021 to August 2023 were taken as the subjects, and the gender, age, overseas residence area and Knowledge of malaria controlscores of the study subjects were investigated by questionnaire survey, and the possible risk factors of malaria were screened by logistic regression model. At the same time, the nomogram prediction model was established, and the subjects were divided into the training group and the validation group at a ratio of 2:1, and the area under the curve (ROC) and the decision curve were plotted to evaluate the prediction ability and practicability of the prediction model in this study. Results Among the 4 774 study subjects, 96 cases of malaria occurred, and the detection rate was 2.01%. Junior school (OR=1.723,95% CI:1.361-2.173), and residence in rural areas(OR=2.091,95%CI:1.760 -3.100)were risk factors (OR>1), while protective measures(OR=0.826,95% CI : 0.781 - 0.901) and high malaria education scores (OR=0.872,95% CI : 0.621 - 0.899)were protective factors.The nomogram prediction model results showed that the area under the curve of the nomogram prediction model in the training group was 0.94 (95% CI : 0.85 - 1.00), while the validation group was 0.93 (95% CI : 0.80 - 1.00). The results of the decision curve showed that when the threshold probability of the population was 0-0.9, the nomogram model was used to predict the risk of malaria occurrence with the highest net income. Conclusion The nomogram prediction model (including gender, education, region, protection and malaria education score) established and validated in this study is of great value for clinicians to screen high-risk patients with malaria.
2.Observation of the therapeutic effect of rituximab combined with traditional Chinese medicine syndrome differentiation on treating steroid-dependent nephrotic syndrome in children and the regularity of traditional Chinese medicine use
Xia ZHANG ; Xuejun LI ; Tingting XU ; Guang LI ; Yifan LI ; Chundong SONG ; Wensheng ZHAI ; Xianqing REN ; Ying DING
Journal of Beijing University of Traditional Chinese Medicine 2025;48(1):80-90
Objective:
To investigate the efficacy, safety, and traditional Chinese medicine (TCM) medication patterns of rituximab (RTX) combined with TCM on treating children with steroid-dependent nephrotic syndrome (SDNS).
Methods:
One hundred and forty-three children with SDNS who visited the Pediatric Nephrology Department of the First Affiliated Hospital of Henan University of Chinese Medicine from January 2018 to December 2022 were enrolled. A cohort study design was adopted, with " RTX treatment" as the exposure factor. Children who met this exposure factor were assigned to the RTX cohort (RTX, glucocorticoid, immunosuppressive agent, combined with traditional Chinese medicine syndrome differentiation treatment), whereas those who did not were assigned to the basic treatment cohort (glucocorticoid, immunosuppressive agent, combined with traditional Chinese medicine syndrome differentiation treatment ), and followed up for 6 months. The frequency of urinary protein recurrences, urinary protein remission duration, proportion and duration of steroid reduction and cessation, cumulative usage of steroids, proportion of recurrence, recurrence amount of steroid used, efficacy of TCM syndrome, and laboratory and safety indicators after treatment, and height and CD19+ B cell count before and after treatment were compared between the two cohorts. The medication patterns of TCM in the two cohorts were analyzed using frequency statistics, association rule analysis, and systematic clustering analysis.
Results:
Compared with the basic treatment cohort, the RTX cohort showed a decrease in the frequency of urinary protein recurrence, extended sustained remission of urinary protein, an increase in the proportion of steroid reduction and cessation, a shorter duration of steroid reduction and cessation, a decrease in cumulative steroid dosage, a lower recurrence rate, a decrease in CD19+ B cell count, and a decrease in 24-h urinary total protein quantification and the level of cholesterol (P<0.05). No significant difference in the recurrence amount of steroid used, height, TCM syndrome efficacy, albumin, aspartate transaminase, blood urea nitrogen, platelet count, and safety indicators between the two cohorts. Children with SDNS were mostly characterized by qi and yin deficiency syndrome, followed by spleen and kidney yang deficiency syndrome. A total of 175 TCMs were included, including 28 high-frequency drugs such as Huangqi, Fuling, Gancao, Baizhu, Dangshen, and Jiuyurou. The primary use of medication is to nourish the qi and spleen, nourish the kidney, and warm yang. The analysis of association rules yielded eight binary associations and ten three-phase associations, with Huangqi, Baizhu, Fuling, and Dangshen, being the most closely related. Cluster analysis identified four TCM combinations, primarily focusing on tonifying kidney and replenishing essence, benefiting qi and nourishing yin, and removing blood stasis.
Conclusion
RTX combined with TCM syndrome differentiation treatment can reduce the recurrence frequency of SDNS, prolong the remission period, reduce the glucocorticoid dosage, and have no marked effect on height growth. No apparent adverse reactions were observed. TCM should focus on nourishing qi and yin while removing blood stasis.
3.Effects of polylactic acid-glycolic acid copolymer/lysine-grafted graphene oxide nanoparticle composite scaffolds on osteogenic differentiation of MC3T3 cells
Shuangqi YU ; Fan DING ; Song WAN ; Wei CHEN ; Xuejun ZHANG ; Dong CHEN ; Qiang LI ; Zuoli LIN
Chinese Journal of Tissue Engineering Research 2025;29(4):707-712
BACKGROUND:How to effectively promote bone regeneration and bone reconstruction after bone injury has always been a key issue in clinical bone repair research.The use of biological and degradable materials loaded with bioactive factors to treat bone defects has excellent application prospects in bone repair. OBJECTIVE:To investigate the effect of polylactic acid-glycolic acid copolymer(PLGA)composite scaffold modified by lysine-grafted graphene oxide nanoparticles(LGA-g-GO)on osteogenic differentiation and new bone formation. METHODS:PLGA was dissolved in dichloromethane and PLGA scaffold was prepared by solvent evaporation method.PLGA/GO composite scaffolds were prepared by dispersing graphene oxide uniformly in PLGA solution.LGA-g-GO nanoparticles were prepared by chemical grafting method,and the PLGA/LGA-g-GO composite scaffolds were constructed by blending LGA-g-GO nanoparticles at different mass ratios(1%,2%,and 3%)with PLGA.The micromorphology,hydrophilicity,and protein adsorption capacity of scaffolds of five groups were characterized.MC3T3 cells were inoculated on the surface of scaffolds of five groups to detect cell proliferation and osteogenic differentiation. RESULTS AND CONCLUSION:(1)The surface of PLGA scaffolds was smooth and flat under scanning electron microscope,while the surface of the other four scaffolds was rough.The surface roughness of the composite scaffolds increased with the increase of the addition of LGA-g-GO nanoparticles.The water contact angle of PLGA/LGA-g-GO(3%)composite scaffolds was lower than that of the other four groups(P<0.05).The protein adsorption capacity of PLGA/LGA-g-GO(1%,2%,and 3%)composite scaffolds was stronger than PLGA and PLGA/GO scaffolds(P<0.05).(2)CCK-8 assay showed that PLGA/LGA-g-GO(2%,3%)composite scaffold could promote the proliferation of MC3T3 cells.Alkaline phosphatase staining and alizarin red staining showed that the cell alkaline phosphatase activity in PLGA/LGA-g-GO(2%,3%)group was higher than that in the other three groups(P<0.05).The calcium deposition in the PLGA/GO and PLGA/LGA-g-GO(1%,2%,and 3%)groups was higher than that in the PLGA group(P<0.05).(3)In summary,PLGA/LGA-g-GO composite scaffold can promote the proliferation and osteogenic differentiation of osteoblasts,and is conducive to bone regeneration and bone reconstruction after bone injury.
4.Clinical study on the treatment of chronic atrophic gastritis with spleen and stomach weakness syndrome by Piwei Peiyuan Pill combined with moxibustion
Kairui WU ; Yu YE ; Bei PEI ; Biao SONG ; Yi ZHANG ; Tingting LI ; Qi YANG ; Yun LIU ; Xuejun LI
Journal of Beijing University of Traditional Chinese Medicine 2025;48(2):280-290
Objective:
To determine the clinical efficacy and mechanism of Piwei Peiyuan Pill (PPP) combined with moxibustion for treating patients with chronic atrophic gastritis (CAG) with spleen and stomach weakness syndrome.
Methods:
Ninety-six CAG patients with spleen and stomach weakness syndrome who met the inclusion and exclusion criteria were enrolled at the Department of Spleen and Stomach Diseases of the Second Affiliated Hospital of Anhui University of Chinese Medicine from June 2022 to December 2023. The patients were randomly divided into a control, a Chinese medicine, and a combined group using a random number table method, with 32 cases in each group (two cases per group were excluded). The control group was treated with rabeprazole combined with folic acid tablets (both thrice daily), the Chinese medicine group was treated with PPP (8 g, thrice daily), and the combined group was treated with moxa stick moxibustion (once daily) on the basis of the Chinese medicine group for 12 consecutive weeks. Gastric mucosa atrophy in the three groups was observed before and after treatment. The gastric mucosal pathological score was evaluated. The Patient Reported Outcome (PRO) scale was used to evaluate the patients′ physical and mental health status and quality of life.An enzyme-linked immunosorbent assay was used to detect serum tumor necrosis factor (TNF)-α, interleukin (IL)-1β, IL-4, IL-10, IL-37, and transforming growth factor (TGF)-β levels in each group. Real-time fluorescence PCR was used to detect the relative expression levels of signal transducer and activator of transcription 3 (STAT3) and mammalian target of rapamycin (mTOR) mRNA in each group. Western blotting was used to detect the relative expression levels of proteins related to the STAT3/mTOR signaling pathway, and the adverse drug reactions and events were recorded and compared.
Results:
There was no statistical difference in age, gender, disease duration, family history of gastrointestinal tumors, alcohol consumption history, and body mass index among the three groups of patients.The total therapeutic efficacy rates of the control, Chinese medicine, and combined groups in treating gastric mucosal atrophy were 66.67% (20/30), 86.67% (26/30), and 90.00% (27/30), respectively (P<0.05). Compared to before treatment, the pathological and PRO scale scores of gastric mucosa in each group decreased after treatment, and TNF-α, IL-1β, IL-37, and TGF-β levels decreased. The relative STAT3 and mTOR mRNA expression levels, as well as the relative STAT3, p-STAT3, mTOR, and p-mTOR protein expression levels decreased (P<0.05), whereas the IL-4 and IL-10 levels increased (P<0.05). After treatment, compared to the control group, the pathological score of gastric mucosa, PRO scale score, TNF-α, IL-1β, IL-37, TGF-β content, relative STAT3 and mTOR mRNA expression levels, and relative STAT3, p-STAT3, mTOR, and p-mTOR protein expression levels in the Chinese medicine and combined groups after treatment were reduced (P<0.05), whereas the IL-4 and IL-10 levels increased (P<0.05). After treatment, compared to the Chinese medicine group, the combined group showed a decrease in relative STAT3, mTOR mRNA expression levels, and STAT3, p-STAT3, mTOR, and p-mTOR protein expression levels (P<0.05).
Conclusion
The combination of PPP and moxibustion may regulate the inflammatory mechanism of the body by inhibiting the abnormal activation of the STAT3/mTOR signaling pathway, upregulating related anti-inflammatory factor levels, downregulating pro-inflammatory factor expression, and increasing related repair factor expression, thereby promoting the recovery of atrophic gastric mucosa, reducing discomfort symptoms, and improving the physical and mental state of CAG patients with spleen and stomach weakness syndrome.
5.Cinobufagin Combined with Thalidomide/Dexamethasone Regimen in the Treatment of Patients with Newly Diagnosed Multiple Myeloma of Phlegm and Stasis Obstruction: A Retrospective Study
Weiguang ZHANG ; Haihua DING ; Biqing CHEN ; Xiangtu KONG ; Xingbin DAI ; Zuqiong XU ; Jing YANG ; Xixi LIU ; Chencheng LI ; Zhongxiao HU ; Xuejun ZHU
Journal of Traditional Chinese Medicine 2024;65(1):72-78
ObjectiveTo investigate the efficacy and safety of cinobufagin tablets combined with thalidomide/dexamethasone (TD) regimen in the treatment of newly diagnosed multiple myeloma (NDMM) with phlegm and stasis obstruction. MethodsThe clinical data of 50 patients with NDMM of phlegm and stasis obstruction who were hospitalized at the Jiangsu Province Hospital of Chinese Medicine from June 1st, 2015 to July 31th, 2019 were retrospectively analyzed, and they were divided into a control group (bortezomib/dexamethasone-containing regimen, 27 cases) and an observation group (cinobufagin tablets combined with TD regimen, 23 cases). The clinical efficacy and safety were compared between the two groups after two or three courses of treatment. The primary outcomes were clinical remission rate including overall response rate and deep remission rate, one-year and two-year overall survival rate, and adverse effects. The secondary outcomes were the proportion of plasma cells in bone marrow, hemoglobin, β2-microglobulin, lactate dehydrogenase, serum creatinine, blood urea nitrogen, bone pain score, and KPS functional status score (KPS score) before and after treatment. ResultsIn terms of clinical efficacy, there was no statistically significant difference (P>0.05) in the overall response rate [the observation group 69.57%(16/23) vs the control group 70.37% (19/27)] and deep remission rate [the observation group 56.52% (13/23) vs the control group 55.56% (15/27)] between groups after the treatment. The one-year overall survival rates of the observation group and the control group were 90.9% and 92.4%, and the two-year overall survival rates were 81.8% and 80.9% respectively, with no statistically significant differences between groups (P>0.05). During the treatment, no renal function injury occurred in both groups. The incidence of peripheral nerve injury in the observation group was 8.70%, which was lower than 48.15% in the control group (P<0.01). After the treatment, the proportion of myeloma plasma cells, β2-microglobulin, serum creatinine level, and bone pain score decreased, while the hemoglobin level and KPS score increased in both groups (P<0.05 or P<0.01). Compared between groups after treatment, the bone pain score of the observation group was lower than that of the control group, while the KPS score was higher than that of the control group (P<0.05). ConclusionThe clinical efficacy of cinobufagin tablets combined with TD in the treatment of NDMM is equivalent to bortezomib/dexamethasone-containing regimen, but the former is more helpful in relieving the pain and improving the quality of life, and has better safety.
6.Development of an Integrated Disposable Device for SARS-CoV-2 Nucleic Acid Extraction and Detection
Ma JING ; Hao YANZHE ; Hou MEILING ; Zhang XIAOSHAN ; Liu JINGDUAN ; Meng HAODI ; Chang JIANGBO ; Ma XUEJUN ; Liu JIHUA ; Ying QINGJIE ; Wang XIANHUA ; Li HONGXIA ; Cao YUXI ; Zhang XIAOGUANG
Biomedical and Environmental Sciences 2024;37(6):639-646
Objective To develop a highly sensitive and rapid nucleic acid detection method for the severe acute respiratory syndrome coronavirus 2(SARS-CoV-2). Methods We designed,developed,and manufactured an integrated disposable device for SARS-CoV-2 nucleic acid extraction and detection.The precision of the liquid transfer and temperature control was tested.A comparison between our device and a commercial kit for SARS-Cov-2 nucleic acid extraction was performed using real-time fluorescence reverse transcription polymerase chain reaction(RT-PCR).The entire process,from SARS-CoV-2 nucleic acid extraction to amplification,was evaluated. Results The precision of the syringe transfer volume was 19.2±1.9 μL(set value was 20),32.2±1.6(set value was 30),and 57.2±3.5(set value was 60).Temperature control in the amplification tube was measured at 60.0±0.0 ℃(set value was 60)and 95.1±0.2 ℃(set value was 95)respectively.SARS-Cov-2 nucleic acid extraction yield through the device was 7.10×106 copies/mL,while a commercial kit yielded 2.98×106 copies/mL.The mean time to complete the entire assay,from SARS-CoV-2 nucleic acid extraction to amplification detection,was 36 min and 45 s.The detection limit for SARS-CoV-2 nucleic acid was 250 copies/mL. Conclusion The integrated disposable devices may be used for SARS-CoV-2 Point-of-Care test(POCT).
7.Clinical efficacy of vericiguat in the treatment of acute decompensated heart failure and its effects on LVEF of patients with different LVDd
Liling ZHANG ; Chonghuai GU ; Rui QIAO ; Xuejun XIANG
China Pharmacy 2024;35(11):1374-1379
OBJECTIVE To observe the efficacy of vericiguat in the treatment of acute decompensated heart failure (HF) and its effect on left ventricular ejection fraction (LVEF) in patients with different left ventricular end-diastolic internal diameters (LVDd). METHODS A total of 52 patients with acute decompensated HF who were hospitalized in Anqing Municipal Hospital from September 2022 to May 2023 and were stabilized by intravenous injection of diuretics or vasodilators and then given vericiguat orally were selected. Clinical baseline data were collected, and blood creatinine (Scr), estimated glomerular filtration rate (eGFR), N-terminal pro-B-type natriuretic peptide (NT-proBNP), echocardiographic indexes(LVEF, LVDd), and Kansas City cardiomyopathy questionnaire (KCCQ) scores and so on were recorded and analyzed at 1 and 6 months after treatment. The patients were divided into two subgroups according to whether they had dilated cardiomyopathy or not, the baseline data were compared between the two subgroups, and the changes in the above follow-up indexes for the entire population and two subgroups of patients were analyzed by using mixed effect model. RESULTS Patients in the dilated cardiomyopathy group were significantly younger than those in the nondilated cardiomyopathy group, while the former had a lower proportion of patients with combined coronary artery disease, longer LVDd, lower LVEF levels, and more HF patients with reduced ejection fraction (P<0.05). Compared with baseline values, KCCQ scores were significantly higher in patients in the whole population, non-dilated cardiomyopathy group and dilated cardiomyopathy group at 1 month after treatment (P<0.001). The difference between the whole population in terms of elevated KCCQ scores and decreased lg(NT-proBNP) levels was statistically significant at 6 months after treatment (P<0.05); the levels of lg(NT-proBNP)of two subgroups were significantly decreased and KCCQ scores were significantly increased (P<0.05), but the difference was not statistically significant (P>0.05); LVEF levels of the patients E-mail:guangf4-508@163.com in both subgroups were significantly elevated (P<0.05) and the difference between the subgroups amounted to 7.52% (P=0.030). Mixed effect model result showed that whether patients had coronary artery disease and different baseline levels of LVDd were likely to affect follow-up LVEF levels, with coronary artery disease contributing to follow-up LVEF elevation (P=0.043), but the coronary artery disease subgroup × time interaction was not significant (P>0.05);compared with patients with baseline LVDd ≥62 mm, patients with baseline LVDd≤61 mm had a faster LVEF improvement (P<0.05). CONCLUSIONS Vericiguat is able to improve cardiac function and quality of life in patients with acute decompensated HF without negatively affecting their renal function. The drug is able to significantly improve LVEF levels in patients with baseline LVDd ≤61 mm.
8.Clinical efficacy of vericiguat in the treatment of acute decompensated heart failure and its effects on LVEF of patients with different LVDd
Liling ZHANG ; Chonghuai GU ; Rui QIAO ; Xuejun XIANG
China Pharmacy 2024;35(11):1374-1379
OBJECTIVE To observe the efficacy of vericiguat in the treatment of acute decompensated heart failure (HF) and its effect on left ventricular ejection fraction (LVEF) in patients with different left ventricular end-diastolic internal diameters (LVDd). METHODS A total of 52 patients with acute decompensated HF who were hospitalized in Anqing Municipal Hospital from September 2022 to May 2023 and were stabilized by intravenous injection of diuretics or vasodilators and then given vericiguat orally were selected. Clinical baseline data were collected, and blood creatinine (Scr), estimated glomerular filtration rate (eGFR), N-terminal pro-B-type natriuretic peptide (NT-proBNP), echocardiographic indexes(LVEF, LVDd), and Kansas City cardiomyopathy questionnaire (KCCQ) scores and so on were recorded and analyzed at 1 and 6 months after treatment. The patients were divided into two subgroups according to whether they had dilated cardiomyopathy or not, the baseline data were compared between the two subgroups, and the changes in the above follow-up indexes for the entire population and two subgroups of patients were analyzed by using mixed effect model. RESULTS Patients in the dilated cardiomyopathy group were significantly younger than those in the nondilated cardiomyopathy group, while the former had a lower proportion of patients with combined coronary artery disease, longer LVDd, lower LVEF levels, and more HF patients with reduced ejection fraction (P<0.05). Compared with baseline values, KCCQ scores were significantly higher in patients in the whole population, non-dilated cardiomyopathy group and dilated cardiomyopathy group at 1 month after treatment (P<0.001). The difference between the whole population in terms of elevated KCCQ scores and decreased lg(NT-proBNP) levels was statistically significant at 6 months after treatment (P<0.05); the levels of lg(NT-proBNP)of two subgroups were significantly decreased and KCCQ scores were significantly increased (P<0.05), but the difference was not statistically significant (P>0.05); LVEF levels of the patients E-mail:guangf4-508@163.com in both subgroups were significantly elevated (P<0.05) and the difference between the subgroups amounted to 7.52% (P=0.030). Mixed effect model result showed that whether patients had coronary artery disease and different baseline levels of LVDd were likely to affect follow-up LVEF levels, with coronary artery disease contributing to follow-up LVEF elevation (P=0.043), but the coronary artery disease subgroup × time interaction was not significant (P>0.05);compared with patients with baseline LVDd ≥62 mm, patients with baseline LVDd≤61 mm had a faster LVEF improvement (P<0.05). CONCLUSIONS Vericiguat is able to improve cardiac function and quality of life in patients with acute decompensated HF without negatively affecting their renal function. The drug is able to significantly improve LVEF levels in patients with baseline LVDd ≤61 mm.
9.Non-invasive imaging of pathological scars using a portable handheld two-photon microscope
Yang HAN ; Yuxuan SUN ; Feili YANG ; Qingwu LIU ; Wenmin FEI ; Wenzhuo QIU ; Junjie WANG ; Linshuang LI ; Xuejun ZHANG ; Aimin WANG ; Yong CUI
Chinese Medical Journal 2024;137(3):329-337
Background::Pathological scars are a disorder that can lead to various cosmetic, psychological, and functional problems, and no effective assessment methods are currently available. Assessment and treatment of pathological scars are based on cutaneous manifestations. A two-photon microscope (TPM) with the potential for real-time non-invasive assessment may help determine the under-surface pathophysiological conditions in vivo. This study used a portable handheld TPM to image epidermal cells and dermal collagen structures in pathological scars and normal skin in vivo to evaluate the effectiveness of treatment in scar patients. Methods::Fifteen patients with pathological scars and three healthy controls were recruited. Imaging was performed using a portable handheld TPM. Five indexes were extracted from two dimensional (2D) and three dimensional (3D) perspectives, including collagen depth, dermo-epidermal junction (DEJ) contour ratio, thickness, orientation, and occupation (proportion of collagen fibers in the field of view) of collagen. Two depth-dependent indexes were computed through the 3D second harmonic generation image and three morphology-related indexes from the 2D images. We assessed index differences between scar and normal skin and changes before and after treatment.Results::Pathological scars and normal skin differed markedly regarding the epidermal morphological structure and the spectral characteristics of collagen fibers. Five indexes were employed to distinguish between normal skin and scar tissue. Statistically significant differences were found in average depth ( t = 9.917, P <0.001), thickness ( t = 4.037, P <0.001), occupation ( t= 2.169, P <0.050), orientation of collagen ( t = 3.669, P <0.001), and the DEJ contour ratio ( t = 5.105, P <0.001). Conclusions::Use of portable handheld TPM can distinguish collagen from skin tissues; thus, it is more suitable for scar imaging than reflectance confocal microscopy. Thus, a TPM may be an auxiliary tool for scar treatment selection and assessing treatment efficacy.
10.Analysis of X chromosome inactivation and prenatal diagnosis for a Chinese pedigree with loss of heterozygosity at Xq22.1q22.3
Chinese Journal of Medical Genetics 2024;41(3):326-330
Objective:To explore the correlation between skewed X chromosome inactivation (XCI) and clinical phenotype of a Chinese pedigree with loss of heterozygosity at Xq22.1q22.3.Methods:A pedigree diagnosed at Taizhou Hospital on November 10, 2021 was selected as the study subject. G-banded chromosomal karyotyping and copy number variation sequencing (CNV-seq) were carried out to analyze the amniotic fluid and peripheral blood samples from the couple. XCI was detected by PCR amplification of CAG repeats in exon 1 of androgen receptor gene before and after the digestion with methylation-sensitive restriction enzyme Hpa Ⅱ. Correlation between the genotype and clinical phenotype was analyzed.Results:The karyotypes of the pregnant woman and the fetus were both determined as 46, X, del(X)(q22), and the result of CNV-seq was seq[hg19]del(X)(q22.1q22.3 ) chrX: g. 10046000_105740000del, suggesting that both had harbored a 5.28 Mb deletion on the X chromosome. No obvious abnormality was found in the husband. XCI analysis showed that the activity ratio of the two X chromosomes of the pregnant woman and her fetus was 0 : 100. The X chromosome harboring the q22.1q22.3 deletion was completely inactivated, and the inactivated X chromosome of the fetus was derived from its mother.Conclusion:The fetus has harbored a maternally derived inactivated X chromosome del(X)(q22), and its phenotype is closely associated with the activity of the abnormal X chromosome. Pedigree XCI analysis combined with the clinical phenotype has facilitated recognition of the maternal phenotype and prognosis of female fetus with loss of heterozygosity at Xq22.1q22.3.


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