1.Beware of misdiagnosis and incorrect treatment of acute gout flare and postoperative infections after arthroscopic surgery for knee gouty arthritis
Wen-Jing MA ; Yan XIONG ; Jian LI
China Journal of Orthopaedics and Traumatology 2024;37(7):664-669
Objective To analyze the differences of clinical features of acute gout flare and postoperative infection under arthroscopy of knee gouty arthritis patients to offer guiding opinions of clinical diagnosis and treatment.Methods Between Jan-uary 2017 and December 2022,235 patients with gouty knee osteoarthritis were admitted,and underwent arthroscopic debride-ment combined with synovectomy.Among them,35 cases had fever with a temperature higher than 38 ℃ postoperatively while acute inflammatory appears under redness,swelling,heat and pain of the operated joints.There were 29 males and 6 females,with an average age of(41.48±13.90)years old.Among them 23 patients were diagnosed with acute gout attack,and recovered well after being given colchicine and prednisolone;12 patients were diagnosed with postoperative joint infection,and were cured after being given anti-infective treatments and cleaning and rinsing of the joint cavity.The two groups of patients were compared and analyzed in terms of preoperative general data,surgical conditions,hematology,joint fluid,limb function and other clinical characteristics.Results There were no significant difference in the preoperative general data between two groups.The onset of fever in the postoperative acute gout flare group occurred mostly within 48 hours,significantly earlier than that in the postoperative infection group(P=0.037).The visual analogue scale score was significantly higher in the acute gout flare group(5.32±1.38)score than in the postoperative infection group(2.45±0.68)score(P=0.000),while 14 patients with acute gout flare were accompanied by severe pain in other joints.Hematologically,indicators such as white blood cell counts and ra-tios were significantly higher in both groups.In terms of inflammatory indicators,IL-6,erythrocyte sedimentation rate,procal-citonin and other inflammatory indicators were significantly elevated in both groups,but there was no statistical difference be-tween two groups.The C-reactive protein level in the postoperative infection group(220.97±1 16.30)mg·L-1 was higher than that in the postoperative acute gout attack group(120.67±82.45)mg·L-1(P=0.006).Blood uric acid(316.55±112.84)μmol·L-1 was higher in the acute postoperative gout flare group than in the postoperative infection group(159.14±126.92)μmol·L-1(P=0.001).In the joint fluid examination of the postoperative infection group,the glucose metabolism indicator was signifi-cantly lower than that of the acute gout flare group,and five of them had positive bacterial cultures Conclusion The symptoms of acute gout flare could be mistaken as postoperative infection due to their similarity,therefore requires careful differentiation.Differential diagnosis should be based on a combination of clinical signs,hematology and joint fluid findings,and targeted treatment should be given to avoid serious complications.
2.Advances of ceftazidime/avibactam in the treatment of carbapenem-resis-tant Klebsiella pneumoniae infection
Yuan-Qi ZHAO ; Ming-Jing CHENG ; Miao-Miao XIONG ; Min XIAO ; Xiu-Yu CUI ; Zi-Jian ZHOU ; Yi-Wei YU ; Wei-Dong ZHAO
Chinese Journal of Infection Control 2024;23(8):1047-1052
In recent years,the prevalence of carbapenem-resistant Klebsiella pneumoniae(CRKP)infection has become a global public health issue.Ceftazidime/avibactam(CAZ/AVI)has been approved as a novel antimicrobial agent for the treatment of healthcare-associated pneumonia/ventilator-associated pneumonia,bloodstream infection,infection after kidney transplantation,and severe infection combined with liver cirrhosis.However,the use of CAZ/AVI has also led to the emergence of drug-resistant strains.The major mechanisms of drug-resistance include over-expression of blaKPC gene,mutation of β-lactamase and amino acids at key sites,changes in cell permeability caused by loss of membrane porin,and over-expression of efflux pump.This article reviews the research progress of CAZ/AVI in the treatment of CRKP infection,providing reference for clinical diagnosis and treatment.
3.Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients (version 2024)
Yao LU ; Yang LI ; Leiying ZHANG ; Hao TANG ; Huidan JING ; Yaoli WANG ; Xiangzhi JIA ; Li BA ; Maohong BIAN ; Dan CAI ; Hui CAI ; Xiaohong CAI ; Zhanshan ZHA ; Bingyu CHEN ; Daqing CHEN ; Feng CHEN ; Guoan CHEN ; Haiming CHEN ; Jing CHEN ; Min CHEN ; Qing CHEN ; Shu CHEN ; Xi CHEN ; Jinfeng CHENG ; Xiaoling CHU ; Hongwang CUI ; Xin CUI ; Zhen DA ; Ying DAI ; Surong DENG ; Weiqun DONG ; Weimin FAN ; Ke FENG ; Danhui FU ; Yongshui FU ; Qi FU ; Xuemei FU ; Jia GAN ; Xinyu GAN ; Wei GAO ; Huaizheng GONG ; Rong GUI ; Geng GUO ; Ning HAN ; Yiwen HAO ; Wubing HE ; Qiang HONG ; Ruiqin HOU ; Wei HOU ; Jie HU ; Peiyang HU ; Xi HU ; Xiaoyu HU ; Guangbin HUANG ; Jie HUANG ; Xiangyan HUANG ; Yuanshuai HUANG ; Shouyong HUN ; Xuebing JIANG ; Ping JIN ; Dong LAI ; Aiping LE ; Hongmei LI ; Bijuan LI ; Cuiying LI ; Daihong LI ; Haihong LI ; He LI ; Hui LI ; Jianping LI ; Ning LI ; Xiying LI ; Xiangmin LI ; Xiaofei LI ; Xiaojuan LI ; Zhiqiang LI ; Zhongjun LI ; Zunyan LI ; Huaqin LIANG ; Xiaohua LIANG ; Dongfa LIAO ; Qun LIAO ; Yan LIAO ; Jiajin LIN ; Chunxia LIU ; Fenghua LIU ; Peixian LIU ; Tiemei LIU ; Xiaoxin LIU ; Zhiwei LIU ; Zhongdi LIU ; Hua LU ; Jianfeng LUAN ; Jianjun LUO ; Qun LUO ; Dingfeng LYU ; Qi LYU ; Xianping LYU ; Aijun MA ; Liqiang MA ; Shuxuan MA ; Xainjun MA ; Xiaogang MA ; Xiaoli MA ; Guoqing MAO ; Shijie MU ; Shaolin NIE ; Shujuan OUYANG ; Xilin OUYANG ; Chunqiu PAN ; Jian PAN ; Xiaohua PAN ; Lei PENG ; Tao PENG ; Baohua QIAN ; Shu QIAO ; Li QIN ; Ying REN ; Zhaoqi REN ; Ruiming RONG ; Changshan SU ; Mingwei SUN ; Wenwu SUN ; Zhenwei SUN ; Haiping TANG ; Xiaofeng TANG ; Changjiu TANG ; Cuihua TAO ; Zhibin TIAN ; Juan WANG ; Baoyan WANG ; Chunyan WANG ; Gefei WANG ; Haiyan WANG ; Hongjie WANG ; Peng WANG ; Pengli WANG ; Qiushi WANG ; Xiaoning WANG ; Xinhua WANG ; Xuefeng WANG ; Yong WANG ; Yongjun WANG ; Yuanjie WANG ; Zhihua WANG ; Shaojun WEI ; Yaming WEI ; Jianbo WEN ; Jun WEN ; Jiang WU ; Jufeng WU ; Aijun XIA ; Fei XIA ; Rong XIA ; Jue XIE ; Yanchao XING ; Yan XIONG ; Feng XU ; Yongzhu XU ; Yongan XU ; Yonghe YAN ; Beizhan YAN ; Jiang YANG ; Jiangcun YANG ; Jun YANG ; Xinwen YANG ; Yongyi YANG ; Chunyan YAO ; Mingliang YE ; Changlin YIN ; Ming YIN ; Wen YIN ; Lianling YU ; Shuhong YU ; Zebo YU ; Yigang YU ; Anyong YU ; Hong YUAN ; Yi YUAN ; Chan ZHANG ; Jinjun ZHANG ; Jun ZHANG ; Kai ZHANG ; Leibing ZHANG ; Quan ZHANG ; Rongjiang ZHANG ; Sanming ZHANG ; Shengji ZHANG ; Shuo ZHANG ; Wei ZHANG ; Weidong ZHANG ; Xi ZHANG ; Xingwen ZHANG ; Guixi ZHANG ; Xiaojun ZHANG ; Guoqing ZHAO ; Jianpeng ZHAO ; Shuming ZHAO ; Beibei ZHENG ; Shangen ZHENG ; Huayou ZHOU ; Jicheng ZHOU ; Lihong ZHOU ; Mou ZHOU ; Xiaoyu ZHOU ; Xuelian ZHOU ; Yuan ZHOU ; Zheng ZHOU ; Zuhuang ZHOU ; Haiyan ZHU ; Peiyuan ZHU ; Changju ZHU ; Lili ZHU ; Zhengguo WANG ; Jianxin JIANG ; Deqing WANG ; Jiongcai LAN ; Quanli WANG ; Yang YU ; Lianyang ZHANG ; Aiqing WEN
Chinese Journal of Trauma 2024;40(10):865-881
Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.
4.Effect of transanal mucosal flap displacement and transanal intersphincterotomy on the treatment of complex anal fistulas and their influence on the pressure of anorectal canal
Jian XIONG ; Huahui XIE ; Wentao HE ; Mingkun LI ; Ming SHEN ; Renhao ZHANG ; Tianfeng NIU ; JING LUO
Journal of Clinical Surgery 2024;32(1):62-66
Objective To explore the effect of Endoanal advancement flap(ERAF)and transanal opening of interphincteric space(TROPIS)in the treatment of complex anal fistula and their impact on anorectal pressure,so as to provide a reference for clinical selection of surgical methods.Methods Eighty-four patients with complex anal fistula admitted from October 2018 to October 2022 were divided into group E received ERAF treatment(n=48)and group T received TROPIS treatment(n=36).The clinical efficacy,operation,wound surface and anorectal pressure of the two groups were compared.Results The effective rate of treatment in Group T was 97.22%,which was higher than that in Group E(87.50%),with no statistically significant difference(P>0.05).The surgical time[(31.53 ±7.29)minutes],intraoperative bleeding volume[(29.56±7.37)ml],and wound area[(10.03± 0.96)cm2,(8.76±0.87)cm2,(6.20±0.77)cm2]on the day of surgery,7 and 14 days after surgery in Group T were all smaller than those in Group E[(35.36±8.54)min,(36.86±8.04)ml,(12.09± 1.23)cm2,(10.52±1.09)cm2 and(7.36±0.85)cm2](P<0.05).After surgery,the VAS score and Wexner incontinence score of Group T were(1.38±0.27)and(0.21±0.08),respectively.Group E was(1.56±0.29)and(0.33±0.09),respectively.In group T,the anorectal systolic pressure at 20 mm and 30 mm and the anorectal resting pressure at 20 mm and 30 mm were(138.18±29.58)mmHg,(136.22±35.41)mmHg,(35.47±6.58)mmHg,and(32.97±8.01)mmHg,respectively.In Group E,the data was(152.78±31.53)mmHg,(156.29±32.74)mmHg,(38.29±7.62)mmHg and(36.41±7.63)mmHg,respectively.Both groups showed a decrease in score and anorectal pressure,and group T was lower than group E(P<0.05).The incidence of adverse reactions in Group E was 20.83%,which was higher than that in Group T(11.11%),but the difference was not statistically significant(P>0.05).Conclusion TROPIS has a better effect in the treatment of complex anal fistula,which can shorten the operation time,reduce intraoperative bleeding,reduce postoperative pain,and protect anal function.
5.Characteristics of mucormycosis in adult acute leukemia: a case report and literature review.
Hui Hui FAN ; Wen Rui YANG ; Xin ZHAO ; You Zhen XIONG ; Kang ZHOU ; Xia Wan YANG ; Jian Ping LI ; Lei YE ; Yang YANG ; Yuan LI ; Li ZHANG ; Li Ping JING ; Feng Kui ZHANG
Chinese Journal of Hematology 2023;44(2):154-157
6.T-large granular lymphocytic leukemia presenting as aplastic anemia: a report of five cases and literature review.
Xiao Xia LI ; Jian Ping LI ; Xin ZHAO ; Yuan LI ; You Zhen XIONG ; Guang Xin PENG ; Lei YE ; Wen Rui YANG ; Kang ZHOU ; Hui Hui FAN ; Yang YANG ; Yang LI ; Lin SONG ; Li Ping JING ; Li ZHANG ; Feng Kui ZHANG
Chinese Journal of Hematology 2023;44(2):162-165
7.The efficacy of radiotherapy based combined therapy for unresectable locally invasive bladder cancer and its associated factors analysis.
Si Jin ZHONG ; Jun Jun GAO ; Ping TANG ; Yue Ping LIU ; Shu Lian WANG ; Hui FANG ; Jing Ping QIU ; Yong Wen SONG ; Bo CHEN ; Shu Nan QI ; Yuan TANG ; Ning Ning LU ; Hao JING ; Yi Rui ZHAI ; Ai Ping ZHOU ; Xin Gang BI ; Jian Hui MA ; Chang Ling LI ; Yong ZHANG ; Jian Zhong SHOU ; Nian Zeng XING ; Ye Xiong LI
Chinese Journal of Oncology 2023;45(2):175-181
Objective: Retrospective analysis of the efficacy and influencing factors of bladder preservation integrated therapy for unresectable invasive bladder cancer confined to the pelvis was done, also including the bladder function preservation and adverse effects analysis. Methods: Sixty-nine patients with unresectable locally invasive bladder cancer who received radiotherapy-based combination therapy from March 1999 to December 2021 at our hospital were selected. Among them, 42 patients received concurrent chemoradiotherapy, 32 underwent neoadjuvant chemotherapyand 43 with transurethral resection of bladder tumors (TURBT) prior to radiotherapy. The late adverse effect of radiotherapy, preservation of bladder function, replase and metastasis and survival were followed-up. Cox proportional hazards models were applied for the multifactorial analysis. Results: The median age was 69 years. There were 63 cases (91.3%) of uroepithelial carcinoma, 64 of stage Ⅲ and 4 of stage Ⅳ. The median duration of follow-up was 76 months. There were 7 grade 2 late genito urinary toxicities, 2 grade 2 gastrointestinal toxicities, no grade 3 or higher adverse events occurred. All patients maintained normal bladder function, except for 8 cases who lost bladder function due to uncontrolled tumor in the bladder. Seventeen cases recurred locally. There were 11 cases in the concurrent chemoradiotherapy group with a local recurrence rate of 26.2% (11/42) and 6 cases in the non-concurrent chemoradiotherapy group with a local recurrence rate of 22.2% (6/27), and the difference in local recurrence rate between the two groups was not statistically significant (P=0.709). There were 23 cases of distant metastasis (including 2 cases of local recurrence with distant metastasis), including 10 cases in the concurrent chemoradiotherapy group with a distant metastasis rate of 23.8% (10/42) and 13 cases in the non-concurrent chemoradiotherapy group with a distant metastasis rate of 48.1% (13/27), and the distant metastasis rate in the non-concurrent chemoradiotherapy group was higher than that in the concurrent chemoradiotherapy group (P=0.036). The median 5-year overall survival (OS) time was 59 months and the OS rate was 47.8%. The 5-year progression-free survival (PFS) time was 20 months and the PFS rate was 34.4%. The 5-year OS rates of concurrent and non-concurrent chemoradiotherapy group were 62.9% and 27.6% (P<0.001), and 5-year PFS rates were 45.4% and 20.0%, respectively (P=0.022). The 5-year OS rates of with or without neoadjuvant chemotherapy were 78.4% and 30.1% (P=0.002), and the 5-year PFS rates were 49.1% and 25.1% (P=0.087), respectively. The 5-year OS rates with or without TURBT before radiotherapy were 45.5% and 51.9% (P=0.233) and the 5-year PFS rates were 30.8% and 39.9% (P=0.198), respectively. Multivariate Cox regression analysis results showed that the clinical stage (HR=0.422, 95% CI: 0.205-0.869) was independent prognostic factor for PFS of invasive bladder cancer. The multivariate analysis showed that clinical stages (HR=0.278, 95% CI: 0.114-0.678), concurrent chemoradiotherapy (HR=0.391, 95% CI: 0.165-0.930), neoadjuvant chemotherapy (HR=0.188, 95% CI: 0.058-0.611), and recurrences (HR=10.855, 95% CI: 3.655-32.638) were independent prognostic factors for OS of invasive bladder cancer. Conclusion: Unresectable localized invasive bladder cancer can achieve satisfactory long-term outcomes with bladder-preserving combination therapy based on radiotherapy, most patients can retain normal bladder function with acceptable late adverse effects and improved survival particularly evident in patients with early, concurrent chemoradiotherapy and neoadjuvant chemotherapy.
Humans
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Aged
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Treatment Outcome
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Retrospective Studies
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Combined Modality Therapy
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Chemoradiotherapy/methods*
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Urinary Bladder Neoplasms/radiotherapy*
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Antineoplastic Combined Chemotherapy Protocols/therapeutic use*
;
Neoplasm Staging
8.Triaging patients in the outbreak of COVID-2019
Guo-Qing HUANG ; Wei-Qian ZENG ; Wen-Bo WANG ; Yan-Min SONG ; Xiao-Ye MO ; Jia LI ; Ping WU ; Ruo-Long WANG ; Fang-Yi ZHOU ; Jing WU ; Bin YI ; Zeng XIONG ; Lu ZHOU ; Fan-Qi WANG ; Yang-Jing TIAN ; Wen-Bao HU ; Xia XU ; Kai YUAN ; Xiang-Min LI ; Xin-Jian QIU ; Jian QIU ; Ai-Min WANG
Chinese Journal of Infection Control 2023;22(3):295-303
In the outbreak of COVID-19,triage procedures based on epidemiology were implemented in a local hospital in Changsha to control the transmission of SARS-CoV-2 and avoid healthcare-associated infection.This re-trospective study analyzed the data collected during the triage period and found that COVID-19 patients were en-riched 7 folds into the Section A designated for patients with obvious epidemiological history.On the other side,nearly triple amounts of visits were received at the Section B for patients without obvious epidemiological history.8 COVID-19 cases were spotted out of 247 suspected patients.More than 50%of the suspected patients were submi-tted to multiple rounds of nucleic acid analysis for SARS-CoV-2 infection.Of the 239 patients who were diagnosed as negative of the virus infection,188 were successfully revisited and none was reported as COVID-19 case.Of the 8 COVID-19 patients,3 were confirmed only after multiple rounds of nucleic acid analysis.Besides comorbidities,delayed sharing of epidemiological history added complexity to the diagnosis in practice.The triaging experience and strategy will be helpful for the control of infectious diseases in the future.
9.Regulation of Baicalin on Growth of Extranodal NK/T Cell Lymphoma Cells through FOXO3/CCL22 Signaling Pathway.
Xiao-Hui DUAN ; Hong LI ; Yao LYU ; Jing LIU ; Shi-Xiong WANG ; Zhen-Tian WU ; Bing-Xuan WANG ; Ming LU ; Jian-Hong WANG ; Rong LIANG
Journal of Experimental Hematology 2023;31(3):730-738
OBJECTIVE:
To investigate the effect of baicalin on the growth of extranodal NK/T cell lymphoma (ENKTCL) cells and its related mechanism.
METHODS:
Normal NK cells and human ENKTCL cells lines SNK-6 and YTS were cultured, then SNK-6 and YTS cells were treated with 5, 10, 20 μmol/L baicalin and set control. Cell proliferation and apoptosis was detected by Edu method and FCM method, respectively, and expressions of BCL-2, Bax, FOXO3 and CCL22 proteins were detected by Western blot. Interference plasmids were designed and synthesized. FOXO3 siRNA interference plasmids and CCL22 pcDNA overexpression plasmids were transfected with PEI transfection reagent. Furthermore, animal models were established for validation.
RESULTS:
In control group and 5, 10, 20 μmol/L baicalin group, the proliferation rate of SNK-6 cells was (56.17±2.96)%, (51.92±4.63)%, (36.42±1.58)%, and (14.60±2.81)%, respectively, while that of YTS cells was (58.85±2.98)%, (51.38±1.32)%, (34.75±1.09)%, and (15.45±1.10)%, respectively. In control group and 5, 10, 20 μmol/L baicalin group, the apoptosis rate of SNK-6 cells was (5.93±0.74)%, (11.78±0.34)%, (28.46±0.44)%, and (32.40±0.37)%, respectively, while that of YTS cells was (7.93±0.69)%, (16.29±1.35)%, (33.91±1.56)%, and (36.27±1.06)%, respectively. Compared with control group, the expression of BCL-2 protein both in SNK-6 and YTS cells decreased significantly (P<0.001), and the expression of Bax protein increased in SNK-6 cells only when the concentration of baicalin was 20 μmol/L (P<0.001), while that in YTS cells increased in all three concentrations(5, 10, 20 μmol/L) of baicalin (P<0.001). The expression of FOXO3 protein decreased while CCL22 protein increased in ENKTCL cell lines compared with human NK cells (P<0.001), but the expression of FOXO3 protein increased (P<0.01) and CCL22 protein decreased after baicalin treatment (P<0.001). Animal experiments showed that baicalin treatment could inhibit tumor growth. The expression of CCL22 protein in ENKTCL tissue of nude mice treated with baicalin decreased compared with control group (P<0.01), while the FOXO3 protein increased (P<0.05). In addition, FOXO3 silencing resulted in the decrease of FOXO3 protein expression and increase of CCL22 protein expression (P<0.01, P<0.001).
CONCLUSION
Baicalin can inhibit proliferation and promote apoptosis of ENKTCL cell lines SNK-6 and YTS, up-regulate the expression of Bax protein, down-regulate the expression of BCL-2 protein, and down-regulate the expression of CCL22 protein mediated by FOXO3. Animal experiment shown that the baicalin can inhibit tumor growth. Baicalin can inhibit the growth and induce apoptosis of ENKTCL cells through FOXO3/CCL22 signaling pathway.
Animals
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Mice
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Humans
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Lymphoma, Extranodal NK-T-Cell/pathology*
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Forkhead Box Protein O3/metabolism*
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bcl-2-Associated X Protein/pharmacology*
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Mice, Nude
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Signal Transduction
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Apoptosis
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Proto-Oncogene Proteins c-bcl-2/metabolism*
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Chemokine CCL22/pharmacology*
10.Clinical and gene mutation characteristics of patients with hereditary ellipsocytosis: nine cases report and literature review.
Xu LIU ; Yuan LI ; Xin ZHAO ; Yang YANG ; Li ZHANG ; Li Ping JING ; Lei YE ; Kang ZHOU ; Jian Ping LI ; Guang Xin PENG ; Hui Hui FAN ; Wen Rui YANG ; You Zhen XIONG ; Feng Kui ZHANG
Chinese Journal of Hematology 2023;44(4):316-320
Objective: To report gene mutations in nine patients with hereditary elliptocytosis (HE) and analyze the characteristics of pathogenic gene mutations in HE. Methods: The clinical and gene mutations of nine patients clinically diagnosed with HE at Institute of Hematology & Blood Diseases Hospital from June 2018 to February 2022 were reported and verified by next-generation sequencing to analyze the relationship between gene mutations and clinical phenotypes. Results: Erythrocyte membrane protein gene mutations were detected among nine patients with HE, including six with SPTA1 mutation, one with SPTB mutation, one with EPB41 mutation, and one with chromosome 20 copy deletion. A total of 11 gene mutation sites were involved, including 6 known mutations and 5 novel mutations. The five novel mutations included SPTA1: c.1247A>C (p. K416T) in exon 9, c.1891delG (p. A631fs*17) in exon 15, E6-E12 Del; SPTB: c.154C>T (p. R52W) ; and EPB41: c.1636A>G (p. I546V) . Three of the six patients with the SPTA1 mutation were SPTA1 exon 9 mutation. Conclusion: SPTA1 is the most common mutant gene in patients with HE.
Humans
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Mutation
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Elliptocytosis, Hereditary/metabolism*
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Erythrocyte Membrane/metabolism*
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Exons
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High-Throughput Nucleotide Sequencing
;
Spherocytosis, Hereditary/metabolism*

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