1.Three new gallic acid sugaresters from Elaeagnus oxycarpa Schlechtend leaves and their antioxidant and tyrosinase inhibitory activities
Feng-zhen CUI ; Jian-hong FU ; Guo-yan XU ; AYEKABAYR·EKBAYR ; Chang-da MA
Acta Pharmaceutica Sinica 2025;60(2):434-441
Five compounds were isolated and purified from the water extract of
2.Treatment of erectile dysfunction based on the "brain-heart-kidney-essence chamber" axis and the meridian-zangfu relationship.
Dicheng LUO ; Jun GUO ; Hao WANG ; Dongyue MA ; Ziwei ZHAO ; Yang LIU ; Hongyuan CHANG ; Jiwei ZHANG ; Wenxiao YU
Chinese Acupuncture & Moxibustion 2025;45(5):609-613
Based on the pathogenesis of erectile dysfunction (ED) from the meridian-zangfu relationship and the "brain-heart-kidney-essence chamber" axis, it proposes that dysfunction of the "brain-heart-kidney-essence chamber" axis is closely related to the occurrence of ED. Among these, brain-heart disharmony is the key pathogenic factor, kidney deficiency and essence depletion constitute an important basis, and essence chamber stasis is a critical mechanism. The treatment approach emphasizes harmonizing the brain and heart, regulating the mind, tonifying the kidney and replenishing qi, unblocking qi and blood to harmonize the essence chamber. The primary acupoints include Baihui (GV20)-Neiguan (PC6)-Shenmen (HT7), Taixi (KI3)-Guanyuan (CV4)-Sanyinjiao (SP6), and Zhongji (CV3)-Dahe (KI12)-Gongsun (SP4), with additional acupoints selected based on syndrome differentiation. This approach aims to restore the clarity of the brain and heart, replenish kidney qi, and unblock the essence chamber, thereby facilitating the restoration of normal functions of the brain, heart, kidney, and essence chamber, and alleviating ED symptoms and improving overall clinical efficacy.
Humans
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Male
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Meridians
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Erectile Dysfunction/physiopathology*
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Kidney/physiopathology*
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Brain/physiopathology*
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Acupuncture Therapy
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Acupuncture Points
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Heart/physiopathology*
3.Analysis of Clonal Rearrangement Characteristics and Clinical Application Value of IGH in B-cell Non-Hodgkin's Lymphoma by Next-generation Sequencing
Qiang MA ; Dongmei ZOU ; Yixian GUO ; Hong ZHAO ; Xiaoli CHANG ; Ronghua HU ; Wanling SUN
Cancer Research on Prevention and Treatment 2024;51(5):368-372
Objective To investigate the clonal rearrangement characteristics and clinical application value of IGH gene in B-cell non-Hodgkin's lymphoma(B-NHL).Methods Demographic and clinical data as well as IGH sequencing results of 55 patients with B-NHL who underwent next-generation sequencing(NGS)testing were collected,and IGH gene clonal rearrangement was detected.The characteristics of IGH gene clonal rearrangement,IGHV gene usage,and the clinical application value of NGS for IGH clonal rearrangement were analyzed.Results Among 55 patients with B-NHL and IGH clonal rearrangement,single dominant clones were mainly detected(85.45%,47/55);a few patients had two(12.73%,7/55)and three dominant clones(1.82%,1/55).In terms of preference for IGHV gene usage,IGHV3 gene had the highest frequency of access in B-NHL,followed by IGHV4.Among the IGHV subtypes,IGHV3-23 had the highest frequency in chronic lymphocytic leukemia/small lymphocytic lymphoma,and IGHV4-34 had the highest frequency in primary central nervous system diffuse large B-cell lymphoma and not otherwise specified diffuse large B-cell lymphoma.Conclusion A preference for IGHV gene usage in clonal rearr-angement of IGH genes is noted in B-NHL patients with different pathological types.Using NGS to detect IGHclonal rearrangement can identify subclones and clonal correlations,and assist in disease diagnosis.
4.A real-world study of the clinical application of the Paris system for reporting urinary cytology in cancer hospital
Huan ZHAO ; Zhihui ZHANG ; Huiqin GUO ; Na WEI ; Haiyue MA ; Linlin ZHAO ; Yue SUN ; Cong WANG ; Xinxiang CHANG ; Xingang BI ; Nianzeng XING
Chinese Journal of Oncology 2024;46(7):703-709
Objectives:To evaluate the clinical value of the Paris system for reporting urinary cytology (TPS) in the diagnosis of urothelial carcinoma (UC).Methods:A total of 1 744 cytological diagnostic records (from 751 cases) were collected retrospectively. All specimens were voided urines and histopathology as the gold standard. The sensitivity and specificity of urinary cytological diagnosis of UC and risk of high grade malignant (ROHM) in each diagnostic category were compared.Results:There were 360 cases with histopathology. The percentage of negative for high-grade urothelial carcinoma (NHGUC) was 30.1% (226/751), atypical urothelial cells (AUC) was 29.8% (224/751), suspicious for high-grade urothelial carcinoma (SHGUC) was 16.8% (126/751), high grade urothelial carcinoma (HGUC) was 21.2% (159/751), and non-urothelial malignancy (NUM) was 2.1% (16/751). The histpathologic ROHM corresponding to each cytological diagnosis category were 27.3% for NHGUC, 32.7% for AUC, 74.7% for SHGUC, 96.6% for HGUC and 100.0% for NUM, respectively. ROHM of SHGUC was significantly higher than that of AUC group, and the difference between the two groups was statistically significant ( P<0.001). ROHM of HGUC group was significantly higher than that of SHGUC group, and the difference was statistically significant ( P<0.001). With SHGUC as the cut-off value, the sensitivity and specificity of cytological diagnosis of HGUC were 76.7% (165/215) and 85.7% (18/21), and with HGUC as the cut-off value, the sensitivity and specificity of cytological diagnosis of HGUC were 53.0% (114/215) and 100.0% (21/21), respectively. Conclusions:Urine cytology has high sensitivity and specificity in the diagnosis of HGUC. The malignant risk of TPS varies with different diagnosis category. The high malignant risk population in cancer hospital leads to the relatively high malignant proportion and ROHM in each diagnosis category. Urinary cytology TPS reporting system is helpful to clinical management and has good clinical application value.
5.A real-world study of the clinical application of the Paris system for reporting urinary cytology in cancer hospital
Huan ZHAO ; Zhihui ZHANG ; Huiqin GUO ; Na WEI ; Haiyue MA ; Linlin ZHAO ; Yue SUN ; Cong WANG ; Xinxiang CHANG ; Xingang BI ; Nianzeng XING
Chinese Journal of Oncology 2024;46(7):703-709
Objectives:To evaluate the clinical value of the Paris system for reporting urinary cytology (TPS) in the diagnosis of urothelial carcinoma (UC).Methods:A total of 1 744 cytological diagnostic records (from 751 cases) were collected retrospectively. All specimens were voided urines and histopathology as the gold standard. The sensitivity and specificity of urinary cytological diagnosis of UC and risk of high grade malignant (ROHM) in each diagnostic category were compared.Results:There were 360 cases with histopathology. The percentage of negative for high-grade urothelial carcinoma (NHGUC) was 30.1% (226/751), atypical urothelial cells (AUC) was 29.8% (224/751), suspicious for high-grade urothelial carcinoma (SHGUC) was 16.8% (126/751), high grade urothelial carcinoma (HGUC) was 21.2% (159/751), and non-urothelial malignancy (NUM) was 2.1% (16/751). The histpathologic ROHM corresponding to each cytological diagnosis category were 27.3% for NHGUC, 32.7% for AUC, 74.7% for SHGUC, 96.6% for HGUC and 100.0% for NUM, respectively. ROHM of SHGUC was significantly higher than that of AUC group, and the difference between the two groups was statistically significant ( P<0.001). ROHM of HGUC group was significantly higher than that of SHGUC group, and the difference was statistically significant ( P<0.001). With SHGUC as the cut-off value, the sensitivity and specificity of cytological diagnosis of HGUC were 76.7% (165/215) and 85.7% (18/21), and with HGUC as the cut-off value, the sensitivity and specificity of cytological diagnosis of HGUC were 53.0% (114/215) and 100.0% (21/21), respectively. Conclusions:Urine cytology has high sensitivity and specificity in the diagnosis of HGUC. The malignant risk of TPS varies with different diagnosis category. The high malignant risk population in cancer hospital leads to the relatively high malignant proportion and ROHM in each diagnosis category. Urinary cytology TPS reporting system is helpful to clinical management and has good clinical application value.
6.The protective effect of icaritin on D-galactose-induced TM4 cell junctional function damage
Zhi-Li YAO ; Hai-Xia ZHAO ; Xiao-Yu MA ; Guo-Qing FU ; Jie WU ; Lai-Xin SONG ; Chang-Cheng ZHANG
Chinese Pharmacological Bulletin 2024;40(9):1634-1641
Aim To investigate the mechanism of icar-itin(ICT)on D-galactose(D-gal)-induced TM4 ser-toli cell junctional function damage in vitro.Methods TM4 cells were divided into the normal control group and D-gal treatment group with different concentra-tions.The expression changes of TM 4 cell junction function-related proteins(ZO-1,Occludin,β-catenin and Cx43)and ERα/FAK signaling pathway-related proteins(ERα,FAK and pY397-FAK)were detected by Western blot.The concentration of ICT was screened by MTT method.TM4 cells were divided into normal control group,D-gal treatment group,and D-gal treatment+different concentrations of ICT group.The expression levels of the above proteins were detected by Western blot.Molecular docking was used to study the interaction between ERα and ICT,meanwhile predict the affinity between them.Finally,TM4 cells were di-vided into normal control group,D-gal treatment group,ERα inhibitor group,D-gal+ICT group,and ERα inhibitor+ICT group.The expression levels of the above proteins were detected by Western blot.Re-sults Compared with the normal control group,the ex-pression of junctional function-related proteins(ZO-1,Occludin,β-catenin and Cx43)and ERα/FAK signa-ling pathway-related proteins(ERα,FAK and pY397-FAK)were significantly down-regulated.After treat-ment with ICT,the expression of above proteins were significantly up-regulated.The docking results of ERα and ICT molecules revealed the formation of two hydro-gen bonds between Asp351 amino acid residue of ERα and ICT,with bond distances measuring 3.4? and 2.4?.Additionally,the docking binding energy be-tween them was found to be lower than-7 kcal·mol-1.After TM4 cells were treated with ERα inhibi-tor,the expression of above proteins and ERα/FAK signaling pathway-related proteins were significantly down-regulated,while the expression levels of the a-bove proteins did not change significantly after being given ICT protected group.Conclusions D-gal can cause damage to the junctional function of TM4 cells,and ICT can improve this damage,which may be related to the up-regulation of ERα/FAK signaling pathway.
7.Clinical Application of Microwave Ablation in Potentially Resectable Colorectal Cancer With Simultaneously Multiple Liver Metastases
Lei HAN ; Xueliang WU ; Fei GUO ; Yuning XI ; Xiaoyan CHANG ; Chunze ZHANG ; Jianfeng ZHANG ; Pengcheng MA
Acta Academiae Medicinae Sinicae 2024;46(2):161-168
Objective To analyze the clinical efficacy of microwave ablation in the colorectal cancer with simultaneously multiple liver metastases that was initially evaluated as potentially resectable.Methods The patients with potentially resectable colorectal cancer with simultaneous multiple liver metastases treated in the De-partment of General Surgery of the First Affiliated Hospital of Hebei North University,the Center of Minimally Invasive Therapy in Oncology of Traditional Chinese and Western Medicine in Dongzhimen Hospital of Beijing U-niversity of Chinese Medicine,and the Second Department of General Surgery in the Fourth Hospital of Hebei Medical University from October 1,2018 to October 1,2020 were selected in this study.The general data,pathological features,treatment methods,and clinical efficacy of the patients were collected.According to the treatment methods,the patients were assigned into a surgical resection group(conversion therapy + laparoscopic primary resection +hepatectomy)and a microwave ablation group(conversion therapy +laparoscopic primary re-section +microwave ablation).The surgical indicators(operation duration,time to first postoperative anal ex-haust,hospital stay,etc.)and postoperative complications(anastomotic stenosis,anastomotic hemorrhage,incision infection,etc.)were compared between the two groups.The survival period was followed up,including the overall survival period and disease-free survival period,and the survival curves were drawn to analyze the clinical efficacy of the two treatment regimens.Results A total of 198 patients with potentially resectable color-ectal cancer with simultaneous multiple liver metastases were included in this study.Sixty-six patients were cured by neoadjuvant chemotherapy(FOLFOX or FOLFIRI),including 30 patients in the surgical resection group and 36 patients in the microwave ablation group(with 57 tumors ablated).After the first ablation,54(94.74%)tumors achieved complete ablation,and all of them reached no evidence of disease status after re-ablation.The microwave ablation group had shorter operation duration,less intraoperative blood loss,shorter time to first post-operative anal exhaust,shorter time of taking a liquid diet,shorter hospital stay,and lower hospitalization cost than the surgical resection group(all P<0.001).In addition,the microwave ablation group had lower visual analogue scale score(P<0.001)than the surgical resection group.The incidences of complications such as inci-sion infection(P =0.740),anastomotic fistula(P =1.000),and anastomotic stenosis(P =1.000),the over-all survival period(P =0.191),and the disease-free survival period(P =0.934)showed no significant differ-ences between the two groups.Conclusions For patients with colorectal cancer with simultaneous multiple liver metastases initially assessed as potentially resectable,laparoscopic primary resection +surgical resection/microwave ablation after conversion therapy was safe,effective,and had similar survival outcomes.Microwave ablation outper-formed surgical resection in postoperative recovery,economy,and tolerability,being worthy of clinical promotion.
8.Multicenter retrospect analysis of early clinical features and analysis of risk factors on prognosis of elderly patients with severe burns
Qimin MA ; Wenbin TANG ; Xiaojian LI ; Fei CHANG ; Xi YIN ; Zhaohong CHEN ; Guohua WU ; Chengde XIA ; Xiaoliang LI ; Deyun WANG ; Zhigang CHU ; Yi ZHANG ; Lei WANG ; Choulang WU ; Yalin TONG ; Pei CUI ; Guanghua GUO ; Zhihao ZHU ; Shengyu HUANG ; Liu CHANG ; Rui LIU ; Yongji LIU ; Yusong WANG ; Xiaobin LIU ; Tuo SHEN ; Feng ZHU
Chinese Journal of Burns 2024;40(3):249-257
Objective:To investigate the early clinical characteristics of elderly patients with severe burns and the risk factors on prognosis.Methods:This study was a retrospective case series study. Clinical data of 124 elderly patients with severe burns who met the inclusion criteria and were admitted to the 12 hospitals from January 2015 to December 2020 were collected, including 4 patients from the Fourth People's Hospital of Dalian, 5 patients from Fujian Medical University Union Hospital, 22 patients from Guangzhou Red Cross Hospital of Jinan University, 5 patients from Heilongjiang Provincial Hospital, 27 patients from the First Affiliated Hospital of Naval Medical University, 9 patients from the First Affiliated Hospital of Nanchang University, 10 patients from Affiliated Hospital of Nantong University, 9 patients from Tongren Hospital of Wuhan University & Wuhan Third Hospital, 12 patients from the 924 th Hospital of PLA, 6 patients from Zhangjiagang First People's Hospital, 4 patients from Taizhou Hospital of Zhejiang Province, and 11 patients from Zhengzhou First People's Hospital. The patients' overall clinical characteristics, such as gender, age, body mass index, total burn area, full-thickness burn area, inhalation injury, causative factors, whether combined with underlying medical diseases, and admission time after injury were recorded. According to the survival outcome within 28 days after injury, the patients were divided into survival group (89 cases) and death group (35 cases). The following data of patients were compared between the two groups, including the basic data and injuries (the same as the overall clinical characteristics ahead); the coagulation indexes within the first 24 hours of injury such as prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time, D-dimer, fibrinogen degradation product (FDP), international normalized ratio (INR), and fibrinogen; the blood routine indexes within the first 24 hours of injury such as white blood cell count, platelet count, neutrophil-to-lymphocyte ratio, monocyte count, red blood cell count, hemoglobin, and hematocrit; the organ function indexes within the first 24 hours of injury such as direct bilirubin, total bilirubin, urea, serum creatinine, aspartate aminotransferase, alanine aminotransferase, total protein, albumin, globulin, blood glucose, triglyceride, total cholesterol, alkaline phosphatase, creatine kinase, electrolyte indexes (potassium, sodium, chlorine, calcium, magnesium, and phosphorus in blood), uric acid, myoglobin, and brain natriuretic peptide; the infection and blood gas indexes within the first 24 hours of injury such as procalcitonin, C-reactive protein, pH value, oxygenation index, base excess, and lactate; treatment such as whether conducted with mechanical ventilation, whether conducted with continuous renal replacement therapy, whether conducted with anticoagulation therapy, whether applied with vasoactive drugs, and fluid resuscitation. The analysis was conducted to screen the independent risk factors for the mortality within 28 days after injury in elderly patients with severe burns. Results:Among 124 patients, there were 82 males and 42 females, aged 60-97 years, with body mass index of 23.44 (21.09, 25.95) kg/m 2, total burn area of 54.00% (42.00%, 75.00%) total body surface area (TBSA), and full-thickness burn area of 25.00% (10.00%, 40.00%) TBSA. The patients were mainly combined with moderate to severe inhalation injury and caused by flame burns. There were 43 cases with underlying medical diseases. The majority of patients were admitted to the hospital within 8 hours after injury. There were statistically significant differences between patients in the 2 groups in terms of age, total burn area, full-thickness burn area, and inhalation injury, and PT, APTT, D-dimer, FDP, INR, white blood cell count, platelet count, urea, serum creatinine, blood glucose, blood sodium, uric acid, myoglobin, and urine volume within the first 24 hours of injury (with Z values of 2.37, 5.49, 5.26, 5.97, 2.18, 1.95, 2.68, 2.68, 2.51, 2.82, 2.14, 3.40, 5.31, 3.41, 2.35, 3.81, 2.16, and -3.82, respectively, P<0.05); there were statistically significant differences between two groups of patients in whether conducted with mechanical ventilation and whether applied with vasoactive drugs (with χ2 values of 9.44 and 28.50, respectively, P<0.05). Age, total burn area, full-thickness burn area, serum creatinine within the first 24 hours of injury, and APTT within the first 24 hours of injury were the independent risk factors for the mortality within 28 days after injury in elderly patients with severe burns (with odds ratios of 1.17, 1.10, 1.10, 1.09, and 1.27, 95% confidence intervals of 1.03-1.40, 1.04-1.21, 1.05-1.19, 1.05-1.17, and 1.07-1.69, respectively, P<0.05). Conclusions:The elderly patients with severe burns had the injuries mainly from flame burns, often accompanied by moderate to severe inhalation injury and enhanced inflammatory response, elevated blood glucose levels, activated fibrinolysis, and impaired organ function in the early stage, which are associated with their prognosis. Age, total burn area, full-thickness burn area, and serum creatinine and APTT within the first 24 hours of injury are the independent risk factors for death within 28 days after injury in this population.
9.A multicenter study on the impact of the early infusion rate on prognosis and the factors of influencing the infusion rate in patients with severe burns and inhalation injury
Shengyu HUANG ; Qimin MA ; Yusong WANG ; Wenbin TANG ; Zhigang CHU ; Haiming XIN ; Liu CHANG ; Xiaoliang LI ; Guanghua GUO ; Feng ZHU
Chinese Journal of Burns 2024;40(11):1024-1033
Objective:To investigate the impact of the early infusion rate on prognosis and the factors of influencing the infusion rate in patients with severe burns and inhalation injury.Methods:This study was a retrospective case series research. From January 2015 to December 2020, 220 patients with severe burns and inhalation injury meeting the inclusion criteria were admitted to 7 burn treatment centers in China, including 13 cases in the Fourth People's Hospital of Dalian, 26 cases in the First Affiliated Hospital of Naval Medical University, 73 cases in Guangzhou Red Cross Hospital of Jinan University, 21 cases in the 924 th Hospital of PLA, 30 cases in the First Affiliated Hospital of Jiangxi Medical College of Nanchang University, 30 cases in Tongren Hospital of Wuhan University & Wuhan Third Hospital, and 27 cases in Zhengzhou First People's Hospital. There were 163 males and 57 females, and their ages ranged from 18 to 91 years. The patients were divided into survival group and death group according to the survival within 28 d post injury. The following data of patients in the 2 groups were collected, including basic information (gender, age, body weight, body temperature, etc.), the injury characteristics (total burn area, post-injury admission time, etc.), the underlying diseases, the post-injury fluid resuscitation condition (infusion rate and ratio of infused electrolyte solution to colloid solution in the first 24 h post injury, etc.), the results of laboratory tests on admission (blood urea nitrogen, blood creatinine, albumin, pH value, base excess, blood lactate, oxygenation index, etc.), and treatment condition (inhaled oxygen volume fraction, hospitalization day, renal replacement therapy, etc.). After adjusting covariates using univariate Cox regression analysis, the multivariate Cox regression analysis was performed to evaluate the impact of infusion rate in the first 24 h post injury on patient death. The receiver operator characteristic curve for the infusion rate in the first 24 h post injury to predict the risk of death was plotted, and the maximum Youden index was calculated. Patients were divided into 2 groups according to the cutoff value (2.03 mL·kg -1·% total body surface area (TBSA) -1) for predicting risk of death by the infusion rate in the first 24 h post injury determined by the maximum Youden index, and the risk of death was compared between the 2 groups. The correlation between the previously mentioned clinical data and the infusion rate in the first 24 h post injury was analyzed; after the univariate linear regression analysis was used to screen the independent variables, the multivariate linear regression analysis was performed to screen the independent influential factors on the infusion rate in the first 24 h post injury. Results:Compared with those in survival group, patients in death group had significantly higher age and total burn area (with Z values of 12.08 and 23.71, respectively, P<0.05), the infusion rate in the first 24 h post injury, inhaled oxygen volume fraction, and blood urea nitrogen, blood creatinine, blood lactic acid on admission (with Z values of 7.99, 4.01, 11.76, 23.24, and 5.97, respectively, P<0.05), and the proportion of patients treated with renal replacement therapy ( P<0.05) were significantly higher, the albumin, pH value, and base excess on admission were significantly lower ( t=2.72, with Z values of 8.18 and 9.70, respectively, P<0.05), and the hospitalization day was significantly reduced ( Z=85.47, P<0.05). After adjusting covariates, the infusion rate in the first 24 h post injury was the independent influential factor on death (with standardized hazard ratio of 1.69, 95% confidence interval of 1.21-2.37, P<0.05). Patients in infusion rate ≥2.03 mL·kg -1·%TBSA -1 group had a significantly higher risk of death than those in infusion rate <2.03 mL·kg -1·% TBSA -1 group (with hazard ratio of 3.47, 95% confidence interval of 1.48-8.13, P<0.05). There was a significant correlation between total burn area, body weight, inhaled oxygen volume fraction, body temperature, post-injury admission time, the ratio of infused electrolyte solution to colloid solution in the first 24 h post injury, and oxygenation index <300 on admission and the infusion rate in the first 24 h post injury (with r values of -0.192, -0.215, 0.137, -0.162, -0.252, and 0.314, respectively, Z=4.48, P<0.05). After screening the independent variables, total burn area, body weight, post-injury admission time, and oxygenation index <300 on admission were the independent influential factors on the infusion rate in the first 24 h post injury (with standardized β values of -0.22, -0.22, -0.19, and 0.46, respectively, 95% confidence intervals of -0.34 to 0.09, -0.34 to 0.10, -0.32 to 0.06, and 0.22 to 0.71, respectively, P<0.05). Conclusions:The infusion rate in the first 24 h post injury in patients with severe burns and inhalation injury is the independent factor of influencing death, and patients with infusion rate ≥2.03 mL·kg -1·%TBSA -1 in the first 24 h post injury have a significantly increased risk of death. The total burn area, body weight, post-injury admission time, and oxygenation index <300 on admission were the independent factors of influencing the infusion rate in the first 24 h post injury in patients with severe burns and inhalation injury.
10.Genetic Variation of SH2B3 in Patients with Myeloid Neoplasms
Qiang MA ; Rong-Hua HU ; Hong ZHAO ; Xiao-Xi LAN ; Yi-Xian GUO ; Xiao-Li CHANG ; Wan-Ling SUN ; Li SU ; Wu-Han HUI
Journal of Experimental Hematology 2024;32(4):1186-1190
Objective:To observe the genetic variation of SH2B3 in patients with myeloid neoplasms.Methods:The results of targeted DNA sequencing associated with myeloid neoplasms in the Department of Hematology,Xuanwu Hospital,Capital Medical University from November 2017 to November 2022 were retrospectively analyzed,and the patients with SH2B3 gene mutations were identified.The demographic and clinical data of these patients were collected,and characteristics of SH2B3 gene mutation,co-mutated genes and their correlations with diseases were analyzed.Results:The sequencing results were obtained from 1 005 patients,in which 19 patients were detected with SH2B3 gene mutation,including 18 missense mutations(94.74%),1 nonsense mutation(5.26%),and 10 patients with co-mutated genes(52.63%).Variant allele frequency(VAF)ranged from 0.03 to 0.66.The highest frequency mutation was p.Ile568Thr(5/19,26.32%),with an average VAF of 0.49,involving 1 case of MDS/MPN-RS(with SF3B1 mutation),1 case of MDS-U(with SF3B1 mutation),1 case of aplastic anemia with PNH clone(with PIGA and KMT2A mutations),2 cases of MDS-MLD(1 case with SETBP1 mutation).The other mutations included p.Ala567Thr in 2 cases(10.53%),p.Arg566Trp,p.Glu533Lys,p.Met437Arg,p.Arg425Cys,p.Glu314Lys,p.Arg308*,p.Gln294Glu,p.Arg282Gln,p.Arg175Gln,p.Gly86Cys,p.His55Asn and p.Gln54Pro in 1 case each.Conclusion:A wide distribution of genetic mutation sites and low recurrence of SH2B3 is observed in myeloid neoplasms,among of them,p.Ile568Thr mutation is detected with a higher incidence and often coexists with characteristic mutations of other diseases.

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