1.Population Characteristics of Arsenic-containing TCM Compounds in the Treatment of Platelets in Myelodysplastic Syndrome
Jian LIU ; Wenru WANG ; Peizhen JIANG ; Kaizhi LU ; Qinlong ZHENG ; Haixia DI ; Lijuan YAO ; Bing WU ; Jiangwei WAN ; Qifeng LIU ; Ruibai LI ; Xudong TANG
Chinese Journal of Information on Traditional Chinese Medicine 2025;32(9):154-160
Objective To compare the differences of baseline characteristics of patients with myelodysplastic syndrome(MDS)who achieved platelet(PLT)response after arsenic-containing TCM compounds combined with Western medicine treatment.Methods Totally 72 MDS patients were selected from 12 outpatient departments and wards,such as Xiyuan Hospital,China Academy of Chinese Medical Sciences,Dongfang Hospital,Beijing University of Chinese Medicine from October 2021 to October 2024.Among them,45 patients received arsenic-containing TCM compounds combined with Western medicine treatment,27 patients received Western medicine treatment.The blood routine[white blood cell(WBC)count,hemoglobin,PLT,neutrophil count],TCM syndrome scores,safety indicators,and adverse events were observed before and after three courses of treatment.The efficacy of all patients was evaluated,and the baseline characteristics of patients who achieved PLT response in the arsenic-containing TCM compounds group and the Western medicine treatment group were compared.Results Comparing the differences of baseline characteristics of the two groups,it was found that the patients who achieved PLT response in the arsenic-containing TCM compounds group were compared with those in the Western medicine treatment group:Age<60 years old(P=0.038),longer disease duration(P=0.012),lower WBC(P=0.017),lower reticulocyte percentage(P=0.037),lower blood urea nitrogen(P=0.046),lower high-density lipoprotein cholesterol(P=0.014),and lower N-terminal pro-B-type natriuretic peptide(P=0.034),abnormal electrocardiogram(P=0.013),high blasts(P=0.009),grade 0 reticular fiber staining(P<0.01),normal chromosome karyotype(P<0.01),gene mutation(P<0.01)and high TCM syndrome scores(P=0.013)were found.Conclusion Arsenic-containing TCM compounds consisting of Qinghuang Powder and Bushen Jianpi Decoction combined with Western medicine is used to treat MDS.Patients with age<60 years old,long disease duration,low WBC count,low reticulocyte percentage,low blood urea nitrogen,low high-density lipoprotein cholesterol,low N-terminal pro-B-type natriuretic peptide,abnormal electrocardiogram,high blasts,grade 0 reticular fiber staining,normal chromosome karyotype,gene mutation and high TCM syndrome score are more likely to obtain PLT response.
2.Analysis on Characteristics of Peripheral Blood Recovery in Treatment of Aplastic Anemia with Bushen Shengxue Method and Yiqi Yangxue Method Combined with Western Medicine
Yaoyin ZHANG ; Jiaqi HE ; Chaochang ZHANG ; Wenru WANG ; Yubin DING ; Jinhuan WANG ; Ruirong XU ; Haixia DI ; Jiangwei WAN ; Qifeng LIU ; Haixia WANG ; Antao SUN ; Xudong TANG
Chinese Journal of Information on Traditional Chinese Medicine 2025;32(1):151-157
Objective To investigate the characteristics of peripheral blood in the treatment of aplastic anemia(AA)with Bushen Shengxue Method and Yiqi Yangxue Method combined with Western medicine.Methods Totally 492 AA patients who were treated in 19 centers including Xiyuan Hospital China Academy of Chinese Medical Sciences from September 2018 to March 2021 were selected,and were randomized into three groups:161 cases in the Bushen Shengxue group,164 cases in the Yiqi Yangxue group,and 167 cases in the control group.All three groups were orally administered cyclosporine and androgens.Bushen Shengxue group was given Bushen Shengxue Granules,Yiqi Yangxue group was given Yiqi Yangxue Granules,and the control group was given placebo(half dosage of Bushen Shengxue granules).The general data,overall efficacy,and peripheral blood at the 1st month,the 4th month,and 6th month after treatment were analyzed.Results The total effective rate of Bushen Shengxue group was 98.8%(159/161),which was significantly higher than that of Yiqi Yangxue group(79.9%)and the control group(61.7%),with statistical significance(P<0.001);The total effective rate of Yiqi Yangxue group was significantly higher than that of the control group(P<0.001).Compared with before treatment,the hemoglobin(HGB)levels of all three groups of patients significantly increased after treatment(P<0.001,P<0.01),and the platelet levels of Bushen Shengxue group and the control group significantly increased after treatment(P<0.001);after treatment,the HGB levels in the three groups were ranked from high to low as the Bushen Shengxue group,Yiqi Yangxue group and the control group(P<0.01).25%of patients had HGB levels exceeding 20%of baseline values,Bushen Shengxue group took 1 month,while Yiqi Yangxue group and control group took 4 months;25%of patients had an increase in HGB levels exceeding 50%of the baseline value,Bushen Shengxue group took 6 months,while Yiqi Yangxue group and control group took more than 6 months.At 6 months,the number of patients with HGB elevation exceeding 20%and 50%of baseline values in Bushen Shengxue group was higher than that in Yiqi Yangxue group and the control group(P<0.05,P<0.001).25%of patients had white blood cell elevation exceeding 50%of the baseline value,Bushen Shengxue group took 4 months,Yiqi Yangxue group took 6 months,and the control group took more than 6 months.25%of patients showed an increase in platelet levels exceeding 100%of the baseline value,Bushen Shengxue group took 4 months,while Yiqi Yangxue group and control group took 6 months;at 6 months,the number of patients in Bushen Shengxue group and Yiqi Yangxue group with platelet elevation exceeding 20%of the baseline value was significantly higher than that in the control group(P<0.01,P<0.05).Conclusion Bushen Shengxue method combined with Western medicine intreating AA is better than the method of Yiqi Yangxue method combined with Western medicine.In terms of improving HGB,it is reflected in shortening the recovery time and increasing the number of beneficiaries,and the dosage can affect the recovery time and the number of beneficiaries at the same time;in terms of improving white blood cell and platelet,it is reflected in shortening the recovery time,and the dosage can affect the recovery time.
3.Correlation between poor position of lumbar pedicle screws and postoperative neurological symptoms
Wen WAN ; Weicheng CHEN ; Weiwen CHEN ; Ning ZHANG ; Liuxue DU ; Jiangwei CHEN ; Rongping ZHOU ; Zhili LIU ; Shanhu HUANG ; Jiaming LIU
The Journal of Practical Medicine 2025;41(20):3220-3227
Objective To analyze the correlation between the poor position of pedicle screw after lumbar internal fixation and the occurrence of postoperative neurological symptoms.Methods The clinical data of patients who underwent lumbar pedicle screw surgery in our hospital from January 2017 to December 2023 were analyzed retrospectively.Record the patient's sex,age,diagnosis,surgical segment,the presence of postoperative neurological complications,the types of neurological complications.According to the postoperative CT,the screw penetration zone and grade were evaluated,and the distribution of different pedicle screw penetration types was recorded.The correlation between different types of pedicle screw penetration and postoperative neurological symptoms was analyzed.Results A total of 184 patients were included,including 80 males and 104 females.Age ranged from 18 to 82 years,with an average of 60.1±14.2 years.35 patients developed new neurological symptoms after operation.The incidence of postoperative neurological symptoms caused by pedicle medial quadrant screw penetration and lower quadrant screw penetration was higher than that of pedicle superior quadrant and lateral quadrant screw penetration.From L1 to L5,the risk of postoperative neurological symptoms caused by screw penetration in the medial quadrant of the pedicle increases gradually.When the penetration distance of pedicle medial quadrant screws in L4 and L5 segments is≥2mm,the risk of postoperative neurological symptoms is high.When the penetration distance of pedicle medial quadrant screws in L1,L2 and L3 segments is greater than 4mm,the risk of postoperative neurological symptoms is high.The distance of pedicle screw penetrating the medial quadrant of pedicle was positively correlated with the incidence of postoperative neurological symptoms(P<0.05).Conclusion The lateral and superior quadrants of the pedicle may be regarded as safety zones for lumbar pedicle screw placement.For the L1~L3 segments,screw penetration depth should not exceed 4 mm;whereas for the L4~L5 segments,the safety threshold must be strictly controlled within 2 mm.
4.Correlation between poor position of lumbar pedicle screws and postoperative neurological symptoms
Wen WAN ; Weicheng CHEN ; Weiwen CHEN ; Ning ZHANG ; Liuxue DU ; Jiangwei CHEN ; Rongping ZHOU ; Zhili LIU ; Shanhu HUANG ; Jiaming LIU
The Journal of Practical Medicine 2025;41(20):3220-3227
Objective To analyze the correlation between the poor position of pedicle screw after lumbar internal fixation and the occurrence of postoperative neurological symptoms.Methods The clinical data of patients who underwent lumbar pedicle screw surgery in our hospital from January 2017 to December 2023 were analyzed retrospectively.Record the patient's sex,age,diagnosis,surgical segment,the presence of postoperative neurological complications,the types of neurological complications.According to the postoperative CT,the screw penetration zone and grade were evaluated,and the distribution of different pedicle screw penetration types was recorded.The correlation between different types of pedicle screw penetration and postoperative neurological symptoms was analyzed.Results A total of 184 patients were included,including 80 males and 104 females.Age ranged from 18 to 82 years,with an average of 60.1±14.2 years.35 patients developed new neurological symptoms after operation.The incidence of postoperative neurological symptoms caused by pedicle medial quadrant screw penetration and lower quadrant screw penetration was higher than that of pedicle superior quadrant and lateral quadrant screw penetration.From L1 to L5,the risk of postoperative neurological symptoms caused by screw penetration in the medial quadrant of the pedicle increases gradually.When the penetration distance of pedicle medial quadrant screws in L4 and L5 segments is≥2mm,the risk of postoperative neurological symptoms is high.When the penetration distance of pedicle medial quadrant screws in L1,L2 and L3 segments is greater than 4mm,the risk of postoperative neurological symptoms is high.The distance of pedicle screw penetrating the medial quadrant of pedicle was positively correlated with the incidence of postoperative neurological symptoms(P<0.05).Conclusion The lateral and superior quadrants of the pedicle may be regarded as safety zones for lumbar pedicle screw placement.For the L1~L3 segments,screw penetration depth should not exceed 4 mm;whereas for the L4~L5 segments,the safety threshold must be strictly controlled within 2 mm.
5.Population Characteristics of Arsenic-containing TCM Compounds in the Treatment of Platelets in Myelodysplastic Syndrome
Jian LIU ; Wenru WANG ; Peizhen JIANG ; Kaizhi LU ; Qinlong ZHENG ; Haixia DI ; Lijuan YAO ; Bing WU ; Jiangwei WAN ; Qifeng LIU ; Ruibai LI ; Xudong TANG
Chinese Journal of Information on Traditional Chinese Medicine 2025;32(9):154-160
Objective To compare the differences of baseline characteristics of patients with myelodysplastic syndrome(MDS)who achieved platelet(PLT)response after arsenic-containing TCM compounds combined with Western medicine treatment.Methods Totally 72 MDS patients were selected from 12 outpatient departments and wards,such as Xiyuan Hospital,China Academy of Chinese Medical Sciences,Dongfang Hospital,Beijing University of Chinese Medicine from October 2021 to October 2024.Among them,45 patients received arsenic-containing TCM compounds combined with Western medicine treatment,27 patients received Western medicine treatment.The blood routine[white blood cell(WBC)count,hemoglobin,PLT,neutrophil count],TCM syndrome scores,safety indicators,and adverse events were observed before and after three courses of treatment.The efficacy of all patients was evaluated,and the baseline characteristics of patients who achieved PLT response in the arsenic-containing TCM compounds group and the Western medicine treatment group were compared.Results Comparing the differences of baseline characteristics of the two groups,it was found that the patients who achieved PLT response in the arsenic-containing TCM compounds group were compared with those in the Western medicine treatment group:Age<60 years old(P=0.038),longer disease duration(P=0.012),lower WBC(P=0.017),lower reticulocyte percentage(P=0.037),lower blood urea nitrogen(P=0.046),lower high-density lipoprotein cholesterol(P=0.014),and lower N-terminal pro-B-type natriuretic peptide(P=0.034),abnormal electrocardiogram(P=0.013),high blasts(P=0.009),grade 0 reticular fiber staining(P<0.01),normal chromosome karyotype(P<0.01),gene mutation(P<0.01)and high TCM syndrome scores(P=0.013)were found.Conclusion Arsenic-containing TCM compounds consisting of Qinghuang Powder and Bushen Jianpi Decoction combined with Western medicine is used to treat MDS.Patients with age<60 years old,long disease duration,low WBC count,low reticulocyte percentage,low blood urea nitrogen,low high-density lipoprotein cholesterol,low N-terminal pro-B-type natriuretic peptide,abnormal electrocardiogram,high blasts,grade 0 reticular fiber staining,normal chromosome karyotype,gene mutation and high TCM syndrome score are more likely to obtain PLT response.
6.Analysis on Characteristics of Peripheral Blood Recovery in Treatment of Aplastic Anemia with Bushen Shengxue Method and Yiqi Yangxue Method Combined with Western Medicine
Yaoyin ZHANG ; Jiaqi HE ; Chaochang ZHANG ; Wenru WANG ; Yubin DING ; Jinhuan WANG ; Ruirong XU ; Haixia DI ; Jiangwei WAN ; Qifeng LIU ; Haixia WANG ; Antao SUN ; Xudong TANG
Chinese Journal of Information on Traditional Chinese Medicine 2025;32(1):151-157
Objective To investigate the characteristics of peripheral blood in the treatment of aplastic anemia(AA)with Bushen Shengxue Method and Yiqi Yangxue Method combined with Western medicine.Methods Totally 492 AA patients who were treated in 19 centers including Xiyuan Hospital China Academy of Chinese Medical Sciences from September 2018 to March 2021 were selected,and were randomized into three groups:161 cases in the Bushen Shengxue group,164 cases in the Yiqi Yangxue group,and 167 cases in the control group.All three groups were orally administered cyclosporine and androgens.Bushen Shengxue group was given Bushen Shengxue Granules,Yiqi Yangxue group was given Yiqi Yangxue Granules,and the control group was given placebo(half dosage of Bushen Shengxue granules).The general data,overall efficacy,and peripheral blood at the 1st month,the 4th month,and 6th month after treatment were analyzed.Results The total effective rate of Bushen Shengxue group was 98.8%(159/161),which was significantly higher than that of Yiqi Yangxue group(79.9%)and the control group(61.7%),with statistical significance(P<0.001);The total effective rate of Yiqi Yangxue group was significantly higher than that of the control group(P<0.001).Compared with before treatment,the hemoglobin(HGB)levels of all three groups of patients significantly increased after treatment(P<0.001,P<0.01),and the platelet levels of Bushen Shengxue group and the control group significantly increased after treatment(P<0.001);after treatment,the HGB levels in the three groups were ranked from high to low as the Bushen Shengxue group,Yiqi Yangxue group and the control group(P<0.01).25%of patients had HGB levels exceeding 20%of baseline values,Bushen Shengxue group took 1 month,while Yiqi Yangxue group and control group took 4 months;25%of patients had an increase in HGB levels exceeding 50%of the baseline value,Bushen Shengxue group took 6 months,while Yiqi Yangxue group and control group took more than 6 months.At 6 months,the number of patients with HGB elevation exceeding 20%and 50%of baseline values in Bushen Shengxue group was higher than that in Yiqi Yangxue group and the control group(P<0.05,P<0.001).25%of patients had white blood cell elevation exceeding 50%of the baseline value,Bushen Shengxue group took 4 months,Yiqi Yangxue group took 6 months,and the control group took more than 6 months.25%of patients showed an increase in platelet levels exceeding 100%of the baseline value,Bushen Shengxue group took 4 months,while Yiqi Yangxue group and control group took 6 months;at 6 months,the number of patients in Bushen Shengxue group and Yiqi Yangxue group with platelet elevation exceeding 20%of the baseline value was significantly higher than that in the control group(P<0.01,P<0.05).Conclusion Bushen Shengxue method combined with Western medicine intreating AA is better than the method of Yiqi Yangxue method combined with Western medicine.In terms of improving HGB,it is reflected in shortening the recovery time and increasing the number of beneficiaries,and the dosage can affect the recovery time and the number of beneficiaries at the same time;in terms of improving white blood cell and platelet,it is reflected in shortening the recovery time,and the dosage can affect the recovery time.
7.Value of serum lactate dehydrogenase, β2 microglobulin and ferritin combined with modified WHO-based Prognostic Scoring System in predicting poor prognosis of myelodysplastic syndrome
Jiangwei WAN ; Dongru CHENG ; Tao WANG ; Ping GAO
Journal of Clinical Medicine in Practice 2024;28(5):79-84
Objective To investigate the value of serum lactate dehydrogenase (LDH), β2-microglobulin (β2-MG) and serum ferritin (SF) combined with the modified WHO-based Prognostic Scoring System (WPSS) score in predicting poor prognosis of patients with myelodysplastic syndrome (MDS). Methods A total of 110 patients with MDS were selected as the research objects, and serum levels of LDH, β2-MG and SF were detected. The patients were divided into death group and survival group according to their survival status, and the serum levels of LDH, β2-MG and SF as well as the modified WPSS score were compared between the two groups. The risk factors for poor prognosis in MDS patients and the predictive values of serum LDH, β2-MG, SF and modified WPSS score alone and their combination for poor prognosis in MDS patients were analyzed. Results The incidence of poor prognosis in MDS patients was 40.20% (41/102). The serum levels of LDH, β2-MG and SF, the modified WPSS score, and the ratio of adverse karyotype prognosis in the death group were significantly higher than those in the survival group (
8.Changes of Immunological Indexes and Blood Routine in Treatment of Aplastic Anemia by Yiqi Yangxue Prescription
Yaoyin ZHANG ; Chaochang ZHANG ; Jiaqi HE ; Wenru WANG ; Yubin DING ; Jinhuan WANG ; Ruirong XU ; Haixia DI ; Jiangwei WAN ; Qifeng LIU ; Haixia WANG ; Antao SUN ; Xudong TANG
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(12):97-104
ObjectiveTo investigate the immunological characteristics of the patients with aplastic anemia (AA) and elevated hemogram parameters treated with Yiqi Yangxue prescription combined with Western medicine and the predictive effects of immunological indexes on elevated hemogram parameters, thus providing a reference for the prediction of the treatment efficacy and the adjustment of the treatment regimen. MethodA retrospective study was conducted, involving 77 AA patients treated with Yiqi Yangxue prescription combined with Western medicine for 6 months in 19 medical institutions including Xiyuan Hospital, China Academy of Chinese Medical Sciences from September 2018 to March 2021. The patients were assigned into two groups according to the elevations in hemogram parameters [including hemoglobin (HGB), white blood cell count (WBC), platelet (PLT), and absolute neutrophil count (ANC)] after 6 months of treatment. One group had the elevation <50%, and the other group had the elevation ≥50% compared with the baseline. The clinical and immunological characteristics were compared between the two groups. Result① Compared with the group with HGB elevation<50%, the group with HGB elevation≥50% showed elevated level of CD3+ human leukocyte antigen-DR (HLA-DR)+ and increased proportion of patients with T-helper cell type 2 (Th2)<5%, CD8+≥50%, and CD3+HLA-DR+≥9% before treatment (P<0.05, P<0.01). The multivariate Logistic regression analysis showed that CD8+≥50% before treatment was the independent influencing factor for HGB elevation ≥50% [odds ratio (OR)=12.000, 95% confidence interval (CI) 2.218, 64.928, P<0.01]. ② Compared with the group with WBC elevation<50%, the group with WBC elevation≥50% showed increased proportion of patients with CD3+HLA-DR+<6% and T-box transcription factor (T-bet)≥200% before treatment (P<0.05). The multivariate Logistic regression analysis showed that CD3+HLA-DR+<6% (OR=2.998, 95%CI 1.036, 8.680, P<0.05) and T-bet≥200% (OR=3.634, 95%CI 1.076, 12.273, P<0.05) before treatment were independent influencing factors for WBC elevation≥50%. ③ Compared with the group with PLT elevation<50%, the group with PLT elevation≥50% presented lowered Th1 and CD3+HLA-DR+ levels and increased proportion of patients with Th1<12%, CD4+≥6%, and CD3+HLA-DR+<5% before treatment (P<0.05, P<0.01). The multivariate Logistic regression analysis showed that CD3+HLA-DR+<5% before treatment was the independent influencing factor for PLT elevation≥50% (OR=16.190, 95%CI of 3.430 to 76.434, P<0.01). ④ Compared with the group with ANC elevation<50%, the group with ANC elevation≥50% showed no significant changes in the hemogram parameters before treatment. ConclusionAs for the AA patients with rapid elevation in HGB, Yiqi Yangxue prescription combined with Western medicine demonstrate significant effects in the patients with Th2<5% and CD3+HLA-DR+≥9%, especially those with CD8+≥50%. As for the AA patients with rapid elevation in WBC, the therapy was particularly effective in the patients with CD3+HLA-DR+<6% and T-bet≥200%. As for the AA patients with rapid growth in PLT, the therapy was particularly effective in the patients with Th1<12% and CD4+≥6%, especially those with CD3+HLA-DR+<5%.
9.Early Efficacy Predictors of Bushen Shengxue Prescription Combined with Western Medicine in Treatment of Aplastic Anemia
Chaochang ZHANG ; Jian LIU ; Wenru WANG ; Rui LI ; Qifeng LIU ; Jinhuan WANG ; Jiangwei WAN ; Ruirong XU ; Feng LIU ; Rou MA ; Xudong TANG
Chinese Journal of Experimental Traditional Medical Formulae 2023;29(14):64-72
ObjectiveTo investigate the predictive indicators of early efficacy of Bushen Shengxue prescription combined with western medicine in the treatment of aplastic anemia, and provide prognosis indicators for the treatment of aplastic anemia (AA) with kidney-tonifying therapy in traditional Chinese medicine (TCM) combined with western medicine. MethodA total of 126 patients treated by Bushen Shengxue prescription combined with western medicine in 19 hospitals including Xiyuan Hospital of the China Academy of Chinese Medical Sciences from September 2018 to March 2021 were selected for a retrospective study. The therapy was proven to be effective after six months of treatment. According to the efficacy after 4 months of treatment, the patients were assigned into a 4-month effective group and a 4-month ineffective group. The age, sex, disease severity (including severe aplastic anemia and non-severe aplastic anemia), course of disease, degree of bone marrow nucleated cell proliferation, baseline hemogram levels [including white blood cell count (WBC), absolute neutrophil count (ANC), hemoglobin (HGB), platelets (PLT), and reticulocytes (RET)], T lymphocytes subsets, and the expression levels of T-box transcription factor (T-bet) and GATA-binding protein-3 (GATA-3) were compared between the two groups before treatment. ResultThe proportions of patients within the age ranges of [20, 40) and [60, 80) were higher in the 4-month effective group (P<0.05). The sex, disease severity, course of disease, and comorbidities had no significant differences between the two groups. The 4-month effective group had higher baseline levels of HGB, WBC, ANC, and PLT than the 4-month ineffective group (P<0.05), and there was no significant difference in the RET level between the two groups before treatment. Binary Logistic regression analysis showed that the PLT level before treatment was an independent factor affecting the onset time, while other indicators did not affect the onset time. The receiver operating characteristic (ROC) curve was established to analyze the value of PLT level before treatment for predicting the onset time, and the area under the curve was 0.691. With the critical value of 40.5×109/L, the sensitivity and specificity of the prediction that the therapy will take effect within 4 months were 0.569 and 0.893, respectively. The two groups of patients were graded according to age {(14, 20), [20, 40), [40, 60), and [60, 80)} and PLT level before treatment (PLT<40×109/L, PLT≥40×109/L). The proportion of the patients with PLT≥40×109/L before treatment in the 4-month effective group was significantly higher than that in the 4-month ineffective group (P<0.05). The degree of bone marrow nucleated cell proliferation before treatment had no significant difference between the two groups. The level of total T lymphocytes in the 4-month effective patients was lower than that in the 4-month ineffective patients before treatment (P<0.05). The levels of Th1 cells, Th2 cells, CD4+ T cells, and CD8+ T cells showed no significant differences between the two groups before treatment. The T-bet expression level in the 4-month effective group was higher than that in the 4-month ineffective group before treatment (P<0.05), while the expression level of GATA-3 showed no significant difference between the two groups before treatment. ConclusionBushen Shengxue prescription combined with western medicine will achieve faster effect for the patients within the age ranges of [20, 40) or [40, 60), with higher levels of HGB, WBC, ANC, and PLT (especially those with PLT≥40×109/L), lower level of total T lymphocytes, or higher T-bet expression level before treatment.
10.Preliminary research on gene mutation in 10 children patients with esophageal atresia
Longqing ZHONG ; Jinshi HUANG ; Qiang TAO ; Hao WAN ; Rong DUAN ; Jiangwei KE
International Journal of Laboratory Medicine 2017;38(22):3131-3133
Objective To explore the genetic variation in children patients with esophageal atresia (EA ) to provide a prophase basis for further studying EA pathogenesis .Methods Ten children cases of EA were collected from the neonatal surgery department of our hospital .The high-throughput whole-exon sequencing was used to study the genetic variations ,and their clinical significance was analyzed by the bioinformatics methods .Results In the high quality sequencing data ,the effective clean reads accounted for 85 .36% ,in which 97% of the clean reads could participate in the comparison with the reference genes .The comparison analysis obtained 520541 single nucleotide polymorphism sites ,in which single nucleotide variation(SNV) occurred at 149622 sites ,including synonymous mutation ,nonsynonymous mutation ,stop codon gain ,stop codon loss ,frameshift insertion ,nonframeshift insertion ,unknown mutation ;meanwhile ,598 copy number variation genes were detected .The functional cluster analysis revealed that the mutant genes were closely related to cell biology .Conclusion The SNV occurrence may influence the expression and function of body various proteins and may play an important role in EA pathogenesis .


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