1.Mechanisms of Bushen Tongluo Jiangzhuo Prescription in Improving Renal Fibrosis in Rats with Chronic Kidney Disease Based on PI3K/Akt/mTOR Signaling Pathway
Xincui BAO ; Baosheng ZHAO ; Lingling QIN ; Haiyan WANG ; Jing YANG ; You WANG ; Lijia WU ; Yujin LI ; Ming GAO ; Cuiyan LYU ; Tonghua LIU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(6):100-108
ObjectiveTo investigate the mechanisms by which Bushen Tongluo Jiangzhuo prescription improves renal fibrosis in rats with chronic kidney disease (CKD) through the phosphatidylinositol 3-kinase (PI3K)/protein kinase B (Akt)/mammalian target of rapamycin (mTOR) signaling pathway. MethodsSeventy specific pathogen-free (SPF) Sprague-Dawley (SD) rats were randomly divided into a control group (n=15) and a modeling group (n=55). Rats in the modeling group were administered a 2.5% adenine suspension at a dose of 200 mg·kg-1·d-1 by gavage for 4 weeks to establish a CKD model. Successfully modeled rats were randomly divided into a model group, an irbesartan group (20.25 mg·kg-1·d-1), and Bushen Tongluo Jiangzhuo prescription low-, medium-, and high-dose groups (5.82, 11.64, and 23.28 g·kg-1·d-1, respectively), with 10 rats in each group. Each group was administered an equal volume of physiological saline, the corresponding concentration of irbesartan, or Bushen Tongluo Jiangzhuo prescription by gavage for 12 weeks. Body weight and renal function indices were dynamically monitored. Serum creatinine (SCr), blood urea nitrogen (BUN), urine albumin-to-creatinine ratio (ACR), 24-hour urinary total protein (24 hUTP), aspartate aminotransferase (AST), alanine aminotransferase (ALT), interleukin-1β (IL-1β), interleukin-6 (IL-6), and tumor necrosis factor-α (TNF-α) levels were measured using an automatic biochemical analyzer. Renal histopathological changes were observed by hematoxylin-eosin (HE) and Masson staining. Immunohistochemistry (IHC) was used to detect the expression of PI3K, Akt, phosphorylated Akt (p-Akt), and mTOR in renal tissues. Western blot was performed to assess the protein expression of PI3K, p-Akt, Akt, phosphorylated mTOR (p-mTOR), and mTOR in renal tissues. Real-time quantitative polymerase chain reaction (Real-time PCR) was used to determine the mRNA expression levels of PI3K, Akt, and mTOR in renal tissues. ResultsCompared with the model group, rats in the irbesartan group and the low-, medium-, and high-dose Bushen Tongluo Jiangzhuo prescription groups showed significantly decreased levels of SCr, BUN, ACR, 24 hUTP, IL-1β, IL-6, and TNF-α (P<0.01). AST levels were significantly increased (P<0.01), while no significant difference was observed in ALT levels. Histopathological examination revealed that, compared with the model group, renal tubular epithelial cell edema and necrosis and Bowman's capsule dilation were alleviated, inflammatory cell infiltration was reduced, and interstitial and glomerular fibrosis was markedly improved in all treatment groups, with the most pronounced effect observed in the high-dose Bushen Tongluo Jiangzhuo prescription group. Real-time PCR results showed that mRNA expression levels of PI3K, Akt, and mTOR were significantly downregulated in the high-dose group (P<0.01). IHC results demonstrated that PI3K and p-Akt expression levels in renal tissues were significantly decreased in the high-dose group (P<0.01). Western blot analysis further confirmed that the expression levels of PI3K, p-Akt/Akt, and p-mTOR/mTOR were significantly reduced in the high-dose group (P<0.01). ConclusionBushen Tongluo Jiangzhuo prescription improves renal function indices in CKD rats, reduces collagen deposition in renal tissues, and decreases serum inflammatory factor levels. Its protective effect on renal function may be achieved by activating autophagy through downregulation of the PI3K/Akt/mTOR signaling pathway, thereby alleviating renal fibrosis.
2.Mechanism of action of Xipayimaizibizi oral liquid on outlet obstruction-induced overactive bladder: An integrated study
Menglu Wang ; Yang Yang ; Yuhang Du ; Jiamei Xie ; Yige Zhao ; Yongcheng An ; Ziyi Shan ; Shenyujun Wang ; Meng Hao ; Baosheng Zhao
Journal of Traditional Chinese Medical Sciences 2025;2025(1):86-99
Objective:
To observe the effect of Xipayimaizibizi oral liquid (XP) in an overactive bladder (OAB) experimental rat model and to explore its pharmacological mechanisms.
Methods:
Network pharmacology was used to explore the potential mechanisms of action of XP. The rats underwent bladder outlet obstruction surgery and were administered the corresponding drug concentrations by gavage for 4 weeks. The study observed the body weight, water intake, bladder and kidney indices (to evaluate their general status), urination behavior pattern (to observe frequency and urgency), and urodynamics (to measure bladder parameters). Hematoxylin and eosin and Masson's trichome staining were used to observe changes in the bladder structure. Enzyme-linked immunosorbent assay was used to measure the levels of nerve growth factor, brain-derived neurotrophic factor, and acetylcholine in the urine. The key targets involved in these mechanisms were validated using reverse transcription-quantitative polymerase chain reaction, immunohistochemistry, and western blot in vivo/vitro experiments.
Result:
Network pharmacological analysis predicted that XP may alleviate OAB by affecting the cholinergic synapse and calcium signaling pathways. XP treatment significantly reduced the bladder index, improved urine behavior and urodynamic parameters, decreased the neurotransmitters in urine, and reduced the thickness of the bladder wall and collagen ratio. These results indicate that XP can alleviate OAB symptoms and improve the bladder structure. In vivo/vitro experiments further demonstrated that XP can inhibit targets, such as muscarinic acetylcholine receptor 2, and participate in cholinergic synapses to further regulate the parasympathetic nervous system. It can also reduce the overexpression of Ca2+ caused by agonists, inhibit targets such as transient receptor potential vanilloid type 1, and participate in calcium signaling pathways to maintain Ca2+ homeostasis.
Conclusion
These results suggest that XP inhibited bladder overactivity by maintaining Ca2+ homeostasis and regulating the parasympathetic nervous system.
3.Spectral CT multi-parameter imaging for diagnosing bronchial anthracofibrosis complicated with active pulmonary tuberculosis
Jingjing YANG ; Xiuli WU ; Liping ZHANG ; Baosheng HUANG
Chinese Journal of Medical Imaging Technology 2025;41(9):1526-1530
Objective To explore the value of spectral CT multi-parameter imaging for diagnosing bronchial anthracofibrosis(BAF)complicated with active pulmonary tuberculosis.Methods Totally 77 patients with BAF complicated with atelectasis were retrospectively enrolled.According to undergoing anti-tuberculosis treatment or not during hospitalization,26 patients complicated with active pulmonarg tuberculosis were divided into group A(n=26),while 51 cases without active pulmonarg tuberculosis were divided into group B.Signs indicating active pulmonary tuberculosis(i.e.tree-in-bud sign or centrilobular nodules)on chest spectral CT images were analyzed.Non-enhanced CT(NECT)values,single-energy CT values at 40 keV(CT40 kev)and 70 keV(CT70 kev),as well as effective atomic number(Zeff),iodine concentration(IC),calcium concentration(CC)and hydroxyapatite concentration(HAP)in the arterial phase and venous phase of enhancement at the site of bronchial obstruction and in subcarinal lymph nodes were measured.the slope of spectral line(λ40-70keV)was calculated and compared between groups.Receiver operating characteristic(ROC)curve was plotted,and the area under the curve(AUC)was used to evaluate the efficacy of the above parameter alone and their combinations for diagnosing BAF complicated with active pulmonarg tuberculosis.Results The displaying rate of active pulmonary tuberculosis CT signs in group A was higher than that in group B(P=0.005).NECT values,enhanced venous phase CT40kev,λ40-70 kev,as well as Zeff,IC,CC and HAP at the site of bronchial obstruction in group A were all lower than those in group B(all P<0.05).The AUC of active pulmonary tuberculosis CT signs for assessing BAF complicated with active pulmonary tuberculosis was 0.659,of the combination of CT quantitative parameters at the site of bronchial obstruction was 0.769,while of the combination of CT signs and CT quantitative parameters was 0.825,higher than of active pulmonary tuberculosis CT signs alone(P<0.05).Conclusion Spectral CT multi-parameter imaging could be used to effectively diagnose BAF complicated with active pulmonary tuberculosis.
4.Usefulness of copy number variation sequencing in detecting deletion/duplication of the DMD gene in Duchenne/Becker muscular dystrophy patients
Xia QIU ; Jingjing GUO ; Chanchan JIN ; Jing HE ; Lei WANG ; Bicheng YANG ; Yinhong ZHANG ; Baosheng ZHU ; Xinhua TANG
Chinese Journal of Neurology 2025;58(2):138-146
Objective:To validate the usefulness of copy number variation sequencing (CNV-seq) in detecting the deletion/duplication of the DMD gene in Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) patients. Methods:One hundred and seventy-seven cases who visited the Department of Medical Genetics, Affiliated Hospital of Kunming University of Science and Technology/the First People′s Hospital of Yunnan Province from April 2018 to November 2023 were collected. All patients had previously accepted multiplex ligation-dependent probe amplification (MLPA) to detect the deletion/duplication of the DMD gene, including 90 cases of normal control with a negative result of MLPA and 87 cases with the deletion or duplication of the DMD gene (61 cases of DMD and 26 cases of BMD). CNV-seq was performed in a single-blind manner to detect DMD gene deletion or duplication for all of 177 cases to obtain the detection efficiency of CNV-seq in comparison with MLPA. Results:Comparing to MLPA, CNV-seq had a coincidence rate of 88.7% (157/177) for detecting DMD gene deletion/duplication, with a sensitivity of 77.0% (67/87), a specificity and a positive predictive value of both 100.0% (90/90 and 67/67, respectively), a negative predictive value of 81.8% (90/110), and a Kappa value of 0.773. Of the 87 patients with the deletion or duplication of the DMD gene, CNV-seq detected 67 cases with DMD gene deletion/duplication, including 62 cases with deletion and 5 cases with duplication, with fragment ranging from 150 to 750 kb. While CNV-seq missed 23.0% (20/87) of positive cases, mainly due to the involved fragments spanning only 1 to 4 exons, and with a variation size less than 50 kb, below the resolution (100 kb) of CNV-seq. The detection rate of CNV-seq in BMD cases (84.6%, 22/26) was a little higher than that in DMD cases (73.8%, 45/61), but there was no significant difference between 2 subgroups ( χ2=1.211, P=0.271). The results of CNV-seq in normal controls were all negative, and consistent with the results of MLPA. Conclusion:CNV-seq can detect 77.0% (67/87) of deletion/duplication of the DMD gene in patients with DMD/BMD, while the deletion/duplication less than 100 kb may be inevitably unidentified, therefore it is recommended as an assistant screening technique in prenatal diagnosis for DMD gene deletion or duplication.
5.Sealed percutaneous lung biopsy tract with different sealants:Comparison on complication incidence
Xianrui SONG ; Junfeng HE ; Yang LIU ; Rui XIONG ; Baosheng SHI ; Jun WANG ; Wenjun ZHENG
Chinese Journal of Interventional Imaging and Therapy 2025;22(4):243-246
Objective To observe the complication incidences after percutaneous lung biopsy and sealed the tract with different sealants.Methods A total of 129 patients with solitary pulmonary nodule who underwent CT-guided percutaneous lung biopsy were retrospectively included and divided into group A(n=37),B(n=47)and C(n=45).The biopsy tract was sealed with sealant A(1 g gelatin sponge particles mixed with 10 ml 50%glucose solution)in group A,with sealant B(1 g gelatin sponge particles mixed with 10 ml normal saline)in group B,while with sealant C(1 g gelatin sponge particles mixed with the coagulant enzyme from Bothrops atrox venom and 10 ml normal saline)in group C.The incidence rate of complications such as pneumothorax and hemoptysis were comparatively observed among groups.Binary logistic regression was performed to screen the independent influencing factors associated with complications of percutaneous lung biopsy.Results No significant difference of gender,age,proportion of smoking history nor emphysema,diameter of pulmonary nodules,depth of puncture into lung parenchyma nor times of puncture was found among groups(all P>0.05).Complications occurred in 43 cases(43/129,33.33%),i.e.27 cases in group B(27/47,57.45%),11 cases in group A(11/37,29.73%)and 5 cases in group C(5/45,11.11%),and the complication rates decreased order of group B,A and C(all P<0.05).Compared with sealant A,sealant B was associated with increased risk(OR[95%CI]=3.190[1.183,8.598],P=0.022),whereas sealant C was associated with reduced risk(OR[95%CI]=0.266[0.079,0.889],P=0.031)of complications.Conclusion After percutaneous lung biopsy,the complication incidences decreased sequentially when the needle tract was sealed with saline B,A and C.
6.Pathogenetic characteristics and risk factor analysis of nosocomial infection with multidrug-resistant organisms in trauma patients
Shilan LUO ; Ruiming ZHANG ; He JIN ; Li YANG ; Baosheng YANG ; Guodong LIU
Chinese Journal of Trauma 2025;41(4):391-398
Objective:To investigate the pathogenetic characteristics and risk factors of nosocomial infection with multidrug-resistant organisms (MDRO) in trauma patients.Methods:A retrospective case-control study was conducted to analyze the clinical data of 103 trauma patients with nosocomial infection admitted to the 926th Hospital of the Joint Logistics Support Force of the PLA from January 2021 to December 2023, including 84 males and 19 females aged 12-80 years [50(39, 59)years]. The patients were divided into MDRO infection group ( n=36) and non-MDRO infection group ( n=67) according to whether nosocomial MDRO infection occurred. The pathogenetic characteristics of MDRO infection were observed. Univariate analysis was used to compare the two groups in terms of their demographic characteristics (gender, age), comorbidities (hypertension, diabetes mellitus), injuries [multiple injuries, open injuries, injury severity score (ISS)], laboratory indicators (hemoglobin, leukocytes) on admission, and other treatment data (emergency admission to the healthcare facility, transferal, length of hospital stay before diagnosis of infection, number of surgeries before diagnosis of infection, blood transfusion before diagnosis of infection, tracheotomy/tracheal intubation before diagnosis of infection). Logistic regression analysis was used to screen the independent risk factors for nosocomial MDRO infection in trauma patients. Results:A total of 52 MDRO strains were detected, including 17 Gram-positive (33%) and 35 Gram-negative (67%) ones, with the top 5 strains being Escherichia coli, Staphylococcus aureus, Acinetobacter baumannii, Klebsiella pneumoniae, and Staphylococcus epidermidis, respectively. The specimen source with the most detected MDRO strains was wound/incision secretion, followed by sputum. The results of the univariate analysis showed statistically significant differences in ISS and hemoglobin on admission between two groups ( P<0.05); however, no statistically significant differences were observed in gender, age, hypertension, diabetes mellitus, multiple injuries, open injuries, leukocytes on admission, emergency admission to the healthcare facility, transferal, length of hospital stay before diagnosis of infection, number of surgeries before diagnosis of infection, blood transfusion before diagnosis of infection, or tracheotomy/tracheal intubation before diagnosis of infection ( P>0.05). The results of the multivariate Logistic regression analysis showed that male gender ( OR=5.01, 95% CI 1.09, 23.08, P<0.05), age ( OR=1.03, 95% CI 1.00, 1.07, P<0.05), multiple injuries ( OR=5.28, 95% CI 1.04, 26.87, P<0.05), hemoglobin on admission ( OR=0.97, 95% CI 0.95, 0.99, P<0.05), and length of hospital stay before diagnosis of infection ( OR=1.06, 95% CI 1.01, 1.11, P<0.05) were significantly associated with the occurrence of nosocomial MDRO infection in trauma patients. Conclusions:In trauma patients, nosocomial MDRO infection pathogens were predominantly Gram-negative and the top five strains are Escherichia coli, Staphylococcus aureus, Acinetobacter baumannii, Klebsiella pneumoniae and Staphylococcus epidermidis, respectively. Male gender, age, multiple injuries, hemoglobin on admission and length of hospital stay before diagnosis of infection are independent risk factors for the occurrence of nosocomial MDRO infection in trauma patients.
7.Spectral CT multi-parameter imaging for diagnosing bronchial anthracofibrosis complicated with active pulmonary tuberculosis
Jingjing YANG ; Xiuli WU ; Liping ZHANG ; Baosheng HUANG
Chinese Journal of Medical Imaging Technology 2025;41(9):1526-1530
Objective To explore the value of spectral CT multi-parameter imaging for diagnosing bronchial anthracofibrosis(BAF)complicated with active pulmonary tuberculosis.Methods Totally 77 patients with BAF complicated with atelectasis were retrospectively enrolled.According to undergoing anti-tuberculosis treatment or not during hospitalization,26 patients complicated with active pulmonarg tuberculosis were divided into group A(n=26),while 51 cases without active pulmonarg tuberculosis were divided into group B.Signs indicating active pulmonary tuberculosis(i.e.tree-in-bud sign or centrilobular nodules)on chest spectral CT images were analyzed.Non-enhanced CT(NECT)values,single-energy CT values at 40 keV(CT40 kev)and 70 keV(CT70 kev),as well as effective atomic number(Zeff),iodine concentration(IC),calcium concentration(CC)and hydroxyapatite concentration(HAP)in the arterial phase and venous phase of enhancement at the site of bronchial obstruction and in subcarinal lymph nodes were measured.the slope of spectral line(λ40-70keV)was calculated and compared between groups.Receiver operating characteristic(ROC)curve was plotted,and the area under the curve(AUC)was used to evaluate the efficacy of the above parameter alone and their combinations for diagnosing BAF complicated with active pulmonarg tuberculosis.Results The displaying rate of active pulmonary tuberculosis CT signs in group A was higher than that in group B(P=0.005).NECT values,enhanced venous phase CT40kev,λ40-70 kev,as well as Zeff,IC,CC and HAP at the site of bronchial obstruction in group A were all lower than those in group B(all P<0.05).The AUC of active pulmonary tuberculosis CT signs for assessing BAF complicated with active pulmonary tuberculosis was 0.659,of the combination of CT quantitative parameters at the site of bronchial obstruction was 0.769,while of the combination of CT signs and CT quantitative parameters was 0.825,higher than of active pulmonary tuberculosis CT signs alone(P<0.05).Conclusion Spectral CT multi-parameter imaging could be used to effectively diagnose BAF complicated with active pulmonary tuberculosis.
8.Sealed percutaneous lung biopsy tract with different sealants:Comparison on complication incidence
Xianrui SONG ; Junfeng HE ; Yang LIU ; Rui XIONG ; Baosheng SHI ; Jun WANG ; Wenjun ZHENG
Chinese Journal of Interventional Imaging and Therapy 2025;22(4):243-246
Objective To observe the complication incidences after percutaneous lung biopsy and sealed the tract with different sealants.Methods A total of 129 patients with solitary pulmonary nodule who underwent CT-guided percutaneous lung biopsy were retrospectively included and divided into group A(n=37),B(n=47)and C(n=45).The biopsy tract was sealed with sealant A(1 g gelatin sponge particles mixed with 10 ml 50%glucose solution)in group A,with sealant B(1 g gelatin sponge particles mixed with 10 ml normal saline)in group B,while with sealant C(1 g gelatin sponge particles mixed with the coagulant enzyme from Bothrops atrox venom and 10 ml normal saline)in group C.The incidence rate of complications such as pneumothorax and hemoptysis were comparatively observed among groups.Binary logistic regression was performed to screen the independent influencing factors associated with complications of percutaneous lung biopsy.Results No significant difference of gender,age,proportion of smoking history nor emphysema,diameter of pulmonary nodules,depth of puncture into lung parenchyma nor times of puncture was found among groups(all P>0.05).Complications occurred in 43 cases(43/129,33.33%),i.e.27 cases in group B(27/47,57.45%),11 cases in group A(11/37,29.73%)and 5 cases in group C(5/45,11.11%),and the complication rates decreased order of group B,A and C(all P<0.05).Compared with sealant A,sealant B was associated with increased risk(OR[95%CI]=3.190[1.183,8.598],P=0.022),whereas sealant C was associated with reduced risk(OR[95%CI]=0.266[0.079,0.889],P=0.031)of complications.Conclusion After percutaneous lung biopsy,the complication incidences decreased sequentially when the needle tract was sealed with saline B,A and C.
9.Pathogenetic characteristics and risk factor analysis of nosocomial infection with multidrug-resistant organisms in trauma patients
Shilan LUO ; Ruiming ZHANG ; He JIN ; Li YANG ; Baosheng YANG ; Guodong LIU
Chinese Journal of Trauma 2025;41(4):391-398
Objective:To investigate the pathogenetic characteristics and risk factors of nosocomial infection with multidrug-resistant organisms (MDRO) in trauma patients.Methods:A retrospective case-control study was conducted to analyze the clinical data of 103 trauma patients with nosocomial infection admitted to the 926th Hospital of the Joint Logistics Support Force of the PLA from January 2021 to December 2023, including 84 males and 19 females aged 12-80 years [50(39, 59)years]. The patients were divided into MDRO infection group ( n=36) and non-MDRO infection group ( n=67) according to whether nosocomial MDRO infection occurred. The pathogenetic characteristics of MDRO infection were observed. Univariate analysis was used to compare the two groups in terms of their demographic characteristics (gender, age), comorbidities (hypertension, diabetes mellitus), injuries [multiple injuries, open injuries, injury severity score (ISS)], laboratory indicators (hemoglobin, leukocytes) on admission, and other treatment data (emergency admission to the healthcare facility, transferal, length of hospital stay before diagnosis of infection, number of surgeries before diagnosis of infection, blood transfusion before diagnosis of infection, tracheotomy/tracheal intubation before diagnosis of infection). Logistic regression analysis was used to screen the independent risk factors for nosocomial MDRO infection in trauma patients. Results:A total of 52 MDRO strains were detected, including 17 Gram-positive (33%) and 35 Gram-negative (67%) ones, with the top 5 strains being Escherichia coli, Staphylococcus aureus, Acinetobacter baumannii, Klebsiella pneumoniae, and Staphylococcus epidermidis, respectively. The specimen source with the most detected MDRO strains was wound/incision secretion, followed by sputum. The results of the univariate analysis showed statistically significant differences in ISS and hemoglobin on admission between two groups ( P<0.05); however, no statistically significant differences were observed in gender, age, hypertension, diabetes mellitus, multiple injuries, open injuries, leukocytes on admission, emergency admission to the healthcare facility, transferal, length of hospital stay before diagnosis of infection, number of surgeries before diagnosis of infection, blood transfusion before diagnosis of infection, or tracheotomy/tracheal intubation before diagnosis of infection ( P>0.05). The results of the multivariate Logistic regression analysis showed that male gender ( OR=5.01, 95% CI 1.09, 23.08, P<0.05), age ( OR=1.03, 95% CI 1.00, 1.07, P<0.05), multiple injuries ( OR=5.28, 95% CI 1.04, 26.87, P<0.05), hemoglobin on admission ( OR=0.97, 95% CI 0.95, 0.99, P<0.05), and length of hospital stay before diagnosis of infection ( OR=1.06, 95% CI 1.01, 1.11, P<0.05) were significantly associated with the occurrence of nosocomial MDRO infection in trauma patients. Conclusions:In trauma patients, nosocomial MDRO infection pathogens were predominantly Gram-negative and the top five strains are Escherichia coli, Staphylococcus aureus, Acinetobacter baumannii, Klebsiella pneumoniae and Staphylococcus epidermidis, respectively. Male gender, age, multiple injuries, hemoglobin on admission and length of hospital stay before diagnosis of infection are independent risk factors for the occurrence of nosocomial MDRO infection in trauma patients.
10.Usefulness of copy number variation sequencing in detecting deletion/duplication of the DMD gene in Duchenne/Becker muscular dystrophy patients
Xia QIU ; Jingjing GUO ; Chanchan JIN ; Jing HE ; Lei WANG ; Bicheng YANG ; Yinhong ZHANG ; Baosheng ZHU ; Xinhua TANG
Chinese Journal of Neurology 2025;58(2):138-146
Objective:To validate the usefulness of copy number variation sequencing (CNV-seq) in detecting the deletion/duplication of the DMD gene in Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) patients. Methods:One hundred and seventy-seven cases who visited the Department of Medical Genetics, Affiliated Hospital of Kunming University of Science and Technology/the First People′s Hospital of Yunnan Province from April 2018 to November 2023 were collected. All patients had previously accepted multiplex ligation-dependent probe amplification (MLPA) to detect the deletion/duplication of the DMD gene, including 90 cases of normal control with a negative result of MLPA and 87 cases with the deletion or duplication of the DMD gene (61 cases of DMD and 26 cases of BMD). CNV-seq was performed in a single-blind manner to detect DMD gene deletion or duplication for all of 177 cases to obtain the detection efficiency of CNV-seq in comparison with MLPA. Results:Comparing to MLPA, CNV-seq had a coincidence rate of 88.7% (157/177) for detecting DMD gene deletion/duplication, with a sensitivity of 77.0% (67/87), a specificity and a positive predictive value of both 100.0% (90/90 and 67/67, respectively), a negative predictive value of 81.8% (90/110), and a Kappa value of 0.773. Of the 87 patients with the deletion or duplication of the DMD gene, CNV-seq detected 67 cases with DMD gene deletion/duplication, including 62 cases with deletion and 5 cases with duplication, with fragment ranging from 150 to 750 kb. While CNV-seq missed 23.0% (20/87) of positive cases, mainly due to the involved fragments spanning only 1 to 4 exons, and with a variation size less than 50 kb, below the resolution (100 kb) of CNV-seq. The detection rate of CNV-seq in BMD cases (84.6%, 22/26) was a little higher than that in DMD cases (73.8%, 45/61), but there was no significant difference between 2 subgroups ( χ2=1.211, P=0.271). The results of CNV-seq in normal controls were all negative, and consistent with the results of MLPA. Conclusion:CNV-seq can detect 77.0% (67/87) of deletion/duplication of the DMD gene in patients with DMD/BMD, while the deletion/duplication less than 100 kb may be inevitably unidentified, therefore it is recommended as an assistant screening technique in prenatal diagnosis for DMD gene deletion or duplication.


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