1.Safety and efficacy of the day surgery model for the treatment of unilateral primary aldosteronism
Kaixuan ZHANG ; Jiwen SHANG ; Yanghao TAI ; Xue YAO ; Huihui QIAO ; Kang WANG
Chinese Journal of Urology 2024;45(8):582-586
Objective:To explore the safety and feasibility of adrenal tumor resection under day surgery mode for the treatment of unilateral primary aldosteronism (UPA).Methods:The clinical data of 83 patients who underwent adrenalectomy for the treatment of UPA from January 2020 to January 2023 were retrospectively analyzed. There were 42 males (50.6%)and 41 females (49.4%), age (49.0±12.3)years old. Body mass index (25.4±3.6)kg/m 2. There were 17 patients with diabetes, 58 patients with preoperative hypertension, and the duration of hypertension was 8.2(1, 15)years. Systolic blood pressure was 151.8(137.0, 160.0)mmHg (1 mmHg=0.133 kPa), and diastolic blood pressure was 97.4(87.0, 107.0)mmHg. 20 cases had severe preoperative hypokalemia, with preoperative blood potassium levels of (2.9±0.6)mmol/L. The ratio of preoperative plasma aldosterone to renin activity was 54.1(13.0, 77.2). Tumors were located on the left side in 47 cases (56.6%)and on the right side in 36 cases (43.4%). The maximum diameter of the tumor is 1.5(1.0, 1.7)cm. Patients diagnosed with unilateral primary aldosteronism were included, and patients diagnosed with adrenal pheochromocytoma, adrenal malignancy, or severe cardiovascular disease that cannot tolerate surgery were excluded. The patient was admitted to the hospital on the same day, underwent surgery on the same day, and was evaluated after extubation within one day after surgery. The patient had no fever or lower back pain after surgery, was able to freely get out of bed, and had no obvious abnormalities in blood routine, electrolyte and other test indicators. The patient was discharged from the hospital and received continuous care outside the hospital. The patient was guided to undergo regular outpatient follow-up. Evaluate the efficacy using the Primary Aldosterone Hyperaldosteronism Surgical Outcome (PASO)criteria. Results:The patients had a mean length of hospital stay of 43.0(40.3, 44.6)hours, an operation time of 89.6(70.0, 103.0)minutes, and an operation cost of 23 820.2 (21 150.8, 24 948. 3)yuan. The postoperative free position time was 29.5(20.8, 39.7)hours, the postoperative time for fluid placement of the diet was 25.2(20.1, 27.8) hours, and 42.2(37.9, 41.9)hours of postoperative drain removal. The overall postoperative clinical remission rate was 85.5%. There were four postoperative complications, accounting for 4.8% of cases. These included two cases of interosseous vein thrombosis, one case of delayed healing, and one case of peritoneal rupture. No case of readmission was reported within 30 days.Conclusions:UPA adrenal tumour resection in ambulatory mode is safe and effective when strict inclusion and exclusion criteria are followed, adequate preoperative preparation is carried out, and expert physician assessment is provided.
2.Zoledronic acid affects osteogenic differentiation and bone formation by regulating the expression of SIRT3/P53
Jie HAN ; Letian QIAO ; Xiaoyi WANG ; Huihui CHEN ; Naying CHU ; Peili CHEN
Chinese Journal of Endocrine Surgery 2024;18(1):130-137
Objective:To explore the mechanism of zoledronic acid (ZOL) affects osteogenic differentiation and bone formation through the regulation of sirtuin 3 (SIRT3) / P53 expression.Methods:Bone marrow mesenchymal stem cells (BMSCs) were induced to differentiate into osteogenic cells, the expression of SIRT3 in the cells was detected, and the targeting regulation relationship between SIRT3 and P53 was analyzed. The intracellular expressions of SIRT3 and P53 were intervened and ZOL was used to treat the cells. MTT method, Western blot method and kit were used to detect cell viability, osteogenesis-related genes Osteoprotegerin (OPG), runt-related transcription factor 2 (Runx2) expression, alkaline phosphatase (ALP) activity and alizarin red S (ARS) staining, respectively. Ovariectomy (OVX) was used to construct a rat model and explore the effect of ZOL on the progression of osteoporosis (OP) in vivo.Results:ZOL promoted osteogenic differentiation of BMSCs. The expression of SIRT3 was down-regulated in the serum of OP patients (0.78±0.23) compared with that of healthy subjects (1.00±0.26 vs. 0.78±0.23. t=3.85, P<0.001). During the osteogenic differentiation of BMSCs, the expression level of SIRT3 gradually increased with the prolonged induction of osteogenesis. Compared with the p53 protein expression and BMSCs activity in the control group, SIRT3 knockout could increase the expression level of p53 protein (0.59±0.05 vs. 1.01±0.11. t=6.02, P=0.004) but inhibited the activity of BMSCs (100.00±8.41 vs. 51.26±5.59. t=8.36, P=0.001). After ZOL treatment, the inhibitory effect of SIRT3 on cell viability (49.61±5.11 vs. 87.61±7.31. t=7.38, P=0.002) and osteogenesis was relieved, and the level of P53 was inhibited (1.10±0.10 vs. 0.69±0.04. t=6.59, P=0.003). P53 overexpression partially offseted the effects of ZOL on cell viability (84.61±6.52 vs. 66.54±5.47. t=3.68, P=0.021) and osteogenesis. Compared with the sham surgery group, the OVX group showed inhibition of osteogenesis in rats, and ZOL treatment significantly improved osteogenic inhibition. ZOL treatment increased the expression level of SIRT3 protein in bone tissue of OVX rats, but inhibited the expression level of P53. Conclusion:ZOL promoted osteogenic differentiation and bone formation of BMSCs by promoting the ubiquitination and degradation of P53 by SIRT3.
3.Effects of platelet microparticles on intestinal mucosal permeability in mice with DSS colitis
Bin Yang ; Huihui Li ; Luyao Zhang ; Qiuyuan Liu ; Didi Wang ; Jing Hu ; Wei Han ; Xiaochang Liu ; Qiao Mei
Acta Universitatis Medicinalis Anhui 2023;58(8):1361-1366
Objective :
To investigate the effect of platelet particles on the extent of intestinal inflammation and in⁃
testinal mucosal permeability in mice with dextran sodium sulfate induced colitis.
Methods :
The experiment was divided into four groups : normal control group ( n = 10 , drinking sterile distilled water + intraperitoneal injection of 0. 9% sodium chloride solution) , PMPs group ( n = 10 , drinking sterile distilled water + intraperitoneal injection of PMPs) , DSS model group ( n = 10 , drinking DSS solution + intraperitoneal injection of 0. 9% sodium chloride solution) , and experimental group ( n = 15 , drinking DSS solution + intraperitoneal injection of PMPs) . Peripheral blood⁃derived PMPs suspension was collected from inflammatory bowel disease ( IBD) patients. A colitis model was constructed in mice by allowing them to freely drink a 5% DSS solution for 1 week , followed by continuous intraperitoneal injection of PMPs for 7 days. Disease activity index (DAI) scores was recorded daily and the severity of intestinal inflammation with histopathological scores (HI) was assessed by HE staining of colon samples at the end of the experiment. Myeloperoxidase (MPO) , neutrophil elastase (NE) , citrullinated histone H3 (citH3) , and free DNA levels were measured in colon homogenate , observe intestinal mucosal structure by transmission electron microscopy , and intestinal permeability was tested using fluorescein isothiocyanate⁃dextran (FITC⁃D) .
Results:
Compared with the normal control group , the colonic mucosa of mice in the PMPs group showed edema , severe destruction of epithelial structure , extensive aggregation of inflammatory cells , and increased overall HI score (P < 0. 01) ; the levels of inflammatory factors such as IL⁃1β and TNF⁃α in colonic tissue homogenates of mice in the PMPs group increased (P < 0. 05) , and the expression of NETs increased (P < 0. 05) ; the plasma FITC⁃D level of mice in the PMPs group significantly increased (P < 0. 05) , and the permeability of intestinal mucosa increased. Compared with the DSS group , the experimental group mice had higher plasma FITC⁃D levels ( P < 0. 05 ) and more electron microscopic colonic epithelial damage.
Conclusion
PMPs induces NETs formation in mice , promotes colonic inflammation in mice , increases intestinal mucosal permeability and aggravates intestinal inflammation in mice with DSS colitis.
4.Effect of case three-dimensional teaching method integrated with multimedia teaching on practice teaching of liver infectious diseases
Yajing ZHOU ; Lin HUA ; Cen ZI ; Yu YAO ; Pinqing LI ; Huihui MENG ; Li QIAO ; Fang LUO
Chinese Journal of Medical Education Research 2022;21(8):1051-1054
Objective:To explore the effect of case three-dimensional teaching method (CTTM) combined with multimedia teaching on the practice teaching of liver infectious diseases.Methods:Twenty-five interns of liver infectious diseases received by The Second Hospital of Nanjing from May 2019 to January 2020 were taken as the control group, and 25 interns of liver infectious diseases received from February 2020 to October 2020 were taken as the observation group. The control group was given the conventional teaching mode including the conventional case teaching and the conventional multimedia teaching, while the observation group was given CTTM integrated with multimedia teaching method, and both groups were taught for 4 weeks. After teaching, the examination results of liver infectious disease related theory and practice, the changes of core competence before and after teaching, and the recognition of teaching were compared between the two groups. SPSS 25.0 was used for t test and chi-square test. Results:After teaching, the examination results of liver infectious disease related theory [(92.45±7.23) vs. (81.21±7.11)] and practice [(93.27±6.68) vs. (81.23±6.26)] in the observation group were higher than those in the control group. There was no significant difference in the scores of core competence between the two groups before teaching; after teaching, the scores of autonomous learning, problem analysis and solving, doctor-patient communication and teamwork ability of the two groups were higher than those before teaching, and the scores of observation group were significantly higher than those of the control group ( P<0.05). The recognition rates of interns in the observation group were higher than those in the control group in the improvement of learning initiative, the consolidation of theoretical knowledge, the enhancement of practical ability and the improvement of learning efficiency ( P<0.05). Conclusion:In the teaching of liver infectious disease interns, CTTM integrated with multimedia teaching method can not only improve the examination results, and enhance the core competence, but also improve the recognition of interns on the teaching mode.
5.Clinical study on the expression of Piezo1 in small intestinal mucosa of 57 patients with Crohn′s disease
Lixue CHEN ; Yongping CAI ; Mingdian LU ; Qiuyuan LIU ; Huihui LI ; Hao DING ; Jing HU ; Wei HAN ; Qiao MEI
Chinese Journal of Digestion 2021;41(8):541-545
Objective:To investigate the expression of Piezo1 in small intestinal mucosal epithelial cells of patients with Crohn′s disease (CD) and its clinical correlation with CD.Methods:From January 1st 2010 to November 30th 2020, the clinical data including age, gender, disease location and biological behavior, etc of 57 patients with CD (CD group) who underwent surgery at The First Affiliated Hospital of Anhui Medical University were retrospectively. And at same time the normal samll intestinal epithelial tissues of 10 healthy individuals who underwent colonoscopy were collected as the healthy control group. The expression of Piezo1 in small intestinal epithelial cells of CD patients with different disease sites, biological behavior and disease activity were detected by immunofluorescence staining and hematoxylin-eosin staining. The histological score system and intestinal fibrosis score were used to analyze the inflammation and fibrosis of the intestinal tissues of patients with CD. Semi-quantitative analysis of Piezo1 in small intestinal epithelial cells was analyzed by ImageJ software. And the correlation between Piezo1 expression and clinical characteristics and pathological features of small intestine was also analyzed. Independent sample t test and analysis of variance were used for statistical analysis. Results:In CD group, there were 37 males (64.9%) and 20 females (35.1%). The age was (39.1±14.2) years old, ranged from 18 to 71 years old, and the average duration of the disease was (26.5±24.1) months. There were 29 cases (50.9%)of ileal type, 26 cases (45.6%) of ileocolonin type and 2 cases (3.5%) of colonic type. There were 12 cases (21.1%) of non-penetrating non-stenotic type, 31 cases (54.4%) of stenotic type and 14 cases (24.6%) of penetrating type. There were 47 cases (82.5%) with moderate activity and 10 cases (17.5%) with severe activity. There were 17 cases (29.8%) of moderate intestinal inflammation, 40 cases (70.2%) of severe intestinal inflammation. The score of intestinal fibrosis in six cases (10.5%) was 1, 28 cases (49.1%) was 2, 18 cases (31.6%) was 3, five cases was 4. The relative expression level of Piezo1 in intestinal mucosal epithelial cells of CD group was higher than that of healthy control group (12.9±4.6 vs. 8.5±1.1), the relative expression of Piezo1 in intestinal mucosal epithelia cells of stenotic type and penetrating type CD patients were both higher than that of non-penetrating and non-stenotic CD patients (12.6±3.8 and 9.8±2.4 vs. 6.0±1.3), and the differences were all statistically significant ( t=3.00, -3.66 and -3.32, all P<0.01). The relative expression of Piezo1 in small intestinal epithelial cells of CD patients with severe intestinal inflammation was higher than that of CD patients with moderate intestinal inflammation (13.1±4.0 vs. 9.7±3.1), and the difference was statistically significant ( t=-2.65, P<0.05). The relative expression levels of Piezo1 in small intestinal epithelial cells of patients with intestinal fibrosis score of 4, 3, 2 and 1 were 17.6±5.2, 12.6±1.7, 9.1±2.1 and 5.8±1.1, respectively; the relative expression levels of Piezo1 in intestinal epithelial cells of patients scored 4 were higher than that of patients scored 3, 2 and 1, and that of patients scored 3 was higher than patients scored 2 and 1, and that of patients scored 2 was higher than that of patients scored 1, and the differences were all statistically significant ( t=-2.98, -5.10, -3.84, 4.60, 6.55 and 2.56, all P<0.05). The relative expression of Piezo1 in intestinal mucosal epithelial cells was related to the severity of intestinal inflammation and fibrosis. The more severe the intestinal inflammation and fibrosis, the higher the relative expression of Piezo1 in intestinal mucosal epithelial cells. Conclusions:The relative expression of Piezo1 in small intestinal epithelial cells is related to the biological behavior and the severity of intestinal inflammation and fibrosis of CD. It is speculated that the expression of Piezo1 in small intestinal epithelial cells may be clinically related to the process of intestinal wall fibrosis in CD to some extent, however whether it plays an important role in the process of intestinal wall fibrosis in CD and its specific mechanism need to be further studied.
6.Endoscopic ultrasound features of distal biliary stricture
Hongye LI ; Yarong WEI ; Huihui LI ; Hao DING ; Jianglong HONG ; Hailun MENG ; Zhangwei XU ; Junjun BAO ; Qiao MEI
Journal of Clinical Hepatology 2021;37(11):2632-2635
Objective To investigate the endoscopic ultrasound (EUS) features of distal biliary stricture (DBS), and to provide a clinical basis for the evaluation of DBS by EUS. Methods Related clinical data were collected from 175 patients with DBS who underwent EUS examination in The First Affiliated Hospital of Anhui Medical University from April 2016 to March 2020 to analyze their clinical manifestation, laboratory examination results, imaging findings, and EUS findings, and the patients were followed up to summarize the EUS features of DBS. The chi-square test was used for comparison of categorical data between groups, and the t -test was used for comparison of continuous data between groups. Results Among the 175 patients with DBS, 85(48.57%) had benign DBS and 90(51.43%) had malignant DBS. Compared with the patients with benign DBS, the patients with malignant DBS had a significantly longer length of stricture on EUS (14.1±3.0 mm vs 7.9±3.0 mm, t =13.358, P < 0.001) and significantly higher incidence rates of the characteristic changes on EUS such as hypoechoic space-occupying lesions in lumen (57.8% vs 34.1%, χ 2 =9.843, P =0.002), peripheral lymph node enlargement (26.7% vs 12.9%, χ 2 =5.147, P =0.023), and pancreatic duct dilatation (51.1% vs 28.2%, χ 2 =9.532, P =0.002). EUS combined with magnetic resonance cholangiopancreatography had a sensitivity of 70.6% in the diagnosis of benign DBS and a sensitivity of 92.2% in the diagnosis of malignant DBS. Conclusion The characteristic EUS features of DBS, such as long length of stricture, hypoechoic lesion, peripheral lymph node enlargement, and pancreatic duct dilatation, may help with the differential diagnosis of DBS in clinical practice.
7.Effect of the active cycle of breathing technique on respiratory muscle training in patients undergoing coronary artery bypass grafting surgery
Baobao LI ; Jing ZHENG ; Qiao NIE ; Chuanni WU ; Xuying GUO ; Huihui WANG
Chinese Journal of Practical Nursing 2021;37(3):201-206
Objective:To evaluate the effect of active cycle of breathing techniques (ACBT) on respiratory muscle training in patients undergoing coronary artery bypass grafting (CABG) surgery.Methods:A quasi-experimental trial was performed. Patients were allocated to the control group or intervention group according to their time of admission. Patients who were admitted to hospital from January 2019 to April 2019 were assigned to the control group and patients admitted from May 2019 to October 2019 were allocated to the intervention group. The control group ( n=84) received routine perioperative care, and the intervention group ( n=82) received ACBT in addition to routine perioperative care. Patients in both groups were trained 3 to 5 times a day throughout their stay in the hospital. The primary outcome measure was maximum inspiratory pressure (MIP), peak of expiratory flow (PEF), forced vital capacity (FVC). Other outcomes included the postoperative pulmonary complications (PPC), days of postoperative hospital stay. Results:The MIP, PEF, FVC value of the control group 3 days after extubation were (64.77±9.80) cmH 2O (1 cmH 2O=0.098 kPa), (139.52±23.74) L/min, (1.07±0.20) L, the intervention group were (69.89±10.92) cmH 2O, (150.37±28.65) L/min, (1.15±0.22)L, the differences between the two groups were statistically significant ( t values were -3.177,-2.657,-2.409, P <0.05). The MIP, PEF, FVC value of the control group 5 days after extubation were (71.13±8.64) cmH 2O, (270.48±44.36) L/min, (2.02±0.29) L, the intervention group were (74.72±12.48) cmH 2O, (287.07±58.61) L/min, (2.21±0.35) L, the differences between the two groups were statistically significant ( t values were -2.161,-2.060,-3.605, P <0.05). The days of postoperative hospital stay of control group and intervention group were (8.15±0.98) and (7.80±1.23) d, there were significant differences ( t value was 2.021, P <0.05). Conclusions:ACBT is an effective and economical pulmonary rehabilitation method, it has effect on Respiratory Muscle Training in Patients Undergoing CABG surgery.
8.Clinical study on the changes of platelet microparticles in inflammatory bowel disease
Bin YANG ; Huihui LI ; Bingbing WANG ; Wei HAN ; Jianming XU ; Qiao MEI
Chinese Journal of Digestion 2020;40(7):466-473
Objective:To investigate the relationship between the expression level of platelet microparticle (PMP) and the disease activity of inflammatory bowel disease (IBD) in IBD patients, and to explore the ability of PMP from different sources to induce the formation of neutrophil extracellular trap (NET) in vitro. Methods:From May 2018 to July 2019, 118 patients with IBD admitted to the Department of Gastroenterology at The First Affiliated Hospital of Anhui Medical University were selected, among whom 54 cases were ulcerative colitis (UC) patients (UC group) and mild, moderate and severe cases were 17, 25 and 12, respectively; and 64 cases were Crohn′s disease (CD) (CD group), 6 were in remission stage, and mild, moderate, severe cases were 27, 22 and 9, respectively. During the same period, 35 healthy individuals with normal checkups were selected as the healthy control group. Specimens were collected and the expression levels of PMP were measured by flow cytometry.And the correlation between the expression level of PMP and the disease activity index (DAI) score was analyzed.NET formation experiment groups were set up, including neutrophils of healthy control group (6 cases), neutrophils of IBD group (6 cases), neutrophils of healthy controls + PMP of IBD group (12 cases) and neutrophils of healthy controls+ PMP group (6 cases). After immunofluorescence staining, the proportion of NET formation of each group was observed under laser scanning confocal microscopy (LSCM). Mann-Whitney U test, Spearman correlation analysis and Independent-sample t test were used for statistical analysis. Results:The expression levels of PMP in peripheral blood of the UC group and the CD group were 2 184.5(2 817.0)/μL and 2 209.0(2 409.0)/μL, respectively, which were all higher than that of the healthy control group (776.0(407.0)/μL), and the differences were statistically significant ( U=-6.018 and -6.426, both P<0.01). The expression level of PMP of patients with severe UC was 3 873.0(4 611.3)/μL, which was higher than those of patients with mild or moderate UC (1 248.0(1 888.0)/μL and 1 432.0(1 783.0)/μL, respectively), and the differences were statistically significant ( U=-2.745 and -2.547, both P<0.05). The expression level of PMP of patients with severe CD was 5 658.0(5 067.5)/μL, which was higher than those of patients with mild or moderate CD or in remission (1 327.5(1 934.0)/μL, 1 405.0(2 965.0)/μL and 2 300.0(1 552.0)/μL, respectively), and the differences were statistically significant ( U=-1.650, -1.955 and -1.306, all P<0.05). There was no statistically significant difference in the expression level of PMP between the UC group and the CD group, between the mild and moderate UC patients, and between the CD in remission and the mild, moderate patients (all P>0.05). The results of correlation analysis showed that the expression levels of PMP in peripheral blood of patients with UC or CD were positively correlated with DAI score and CRP ( r=0.406, 0.358, 0.325, and 0.256; all P<0.05). The proportion of NET formation in the neutrophils of healthy control+ PMP of IBD group was (14.67±5.35) %, which was higher than those of the neutrophils of healthy control groap, neutrophils of IBD group and neutrophils of healthy control+ PMP group ((2.00±0.63)%, (1.67±0.82)% and (5.83±2.86)%), and the differences were statistically significant ( t=5.694, 8.230 and 3.748, all P<0.05). There was no statistically significant difference in the proportion of NET formation between the neutrophils of healthy control group and the neutrophils of IBD group ( P>0.05). Conclusions:The expression level of PMP in peripheral blood of IBD patients increases and is correlated with the disease activity degree in IBD patients. PMP has the ability to induce the NET formation in neutrophils. Moreover, PMP of IBD patients is more likely to induce NET formation than those of healthy individuals, which may be involved in the intestinal inflammatory process by activating neutrophils to produce NET.
9.An analysis of the "door to signature" time and its influencing factors in STEMI patients
Panpan CHEN ; Shujuan DONG ; Jingchao LI ; Haijia YU ; Huihui LI ; Yapan YANG ; Kun QIAO ; Dongyang LONG ; Yuanyuan TAN ; Chunling KONG ; Yingjie CHU
Chinese Journal of Emergency Medicine 2019;28(5):596-603
Objective To investigate the delay of door to signature time in primary percutaneous coronary intervention (PCI) and its influence in patients with ST segment elevation myocardial infarction (STEMI),therefore to provide a scientific basis for further effective shortening the time of primary PCI in patients with STEMI.Methods A total of 226 patients who diagnosed with STEMI and underwent primary PCI at Henan Provincial People's Hospital from June 2016 to December 2017 were enrolled in the study.Observation indicators include:(1) baseline data of patients;(2) time segments in primary PCI:total ischemic time (TIT),door to balloon time (DTBT),door-to-signature time (DTST),signature to balloon time (STBT);(3) the demographic characteristics of the family members who signed informed consent;and (4) the psychological factors and coping strategies of family members before signing informed consent.All data was analyzed using SPSS software (version 22.0).Multiple linear regression analysis was used to analyze the influencing factors of delay of DTST.A P<0.05 was considered statistically significant.Results In this study,226 patients with STEMI who were first diagnosed in our hospital had a mean age of 55.23±10.80 years,and 181 (80.1%) were male.The median of TIT,DTBT,DTST,STBT were 312 min,166 min,82 min,and 80 min.The ratio of DTST in DTBT and TIT was 50% and 28.5%,respectively.The multiple linear regression analysis showed that the number of direct family members (P<0.001),the degree of educational in middle school and below (P=0.010),high school/technical secondary school (P=0.029),families worrying about the high cost of medical care (P=0.020),families consulted each other repeatedly (P=0.022),and consulted the other medical staff(P=0.022) are risk factors of DTST delay,and city residence (P=0.048) is the protection factor of DTST delay.Conclusions The long time of DTS is a reality of the practice of primary PCI in China.The factors that lead to longer DTST include demographic characteristics,psychological factors and coping strategies of family members.The STBT of primary PCI in China should be taken into the value while emphasizing the DTBT.
10.Analysis of prognosis of acute myeloid leukemia patients based on genetic mutations.
Jinning SHI ; Yu ZHU ; Ming HONG ; Huihui ZHAO ; Jianping MAO ; Hui JIN ; Wenjing ZHANG ; Ting ZHANG ; Yongchao MA ; Yaoyu CHEN ; Sixuan QIAN ; Jianyong LI ; Chun QIAO
Chinese Journal of Medical Genetics 2017;34(6):806-811
OBJECTIVETo correlate the clinical features of patients with acute myeloid leukemia (AML) with mutations of FLT3-ITD, NPM1, CEBPA, c-KIT, DNMT3A and ND4 genes as well as chromosomal aberrations.
METHODSSomatic mutations of aforementioned genes in 412 newly diagnosed AML patients were detected with PCR and direct sequencing. All patients were also subjected to R-banding chromosomal analysis. The results were correlated with the clinical features and prognosis of the patients.
RESULTSThe mutation rates of FLT3-ITD, NPM1, CEBPA, c-KIT, DNMT3A and ND4 were 9.0% (26/289), 19.1% (50/262), 18.9% (34/180), 3.4% (7/208), 6.6% (9/137) and 6.9% (4/58), respectively. Patients with poor prognosis based on genetic mutations had lower blood platelet count than those with intermediate and good prognosis (P=0.001 and P=0.001, respectively). None of the three groups attained median overall survival (OS) (P> 0.05). The complete remission (CR) was similar among the three groups (P> 0.05). For patients with different prognosis based on cytogenetic findings, white blood cell count in those with intermediate prognosis was higher than those with good and poor prognosis (P< 0.001 and P=0.004, respectively), while the blood platelet count of the intermediate group was higher than that of the group with good prognosis (P=0.018). No significant difference was found among the three groups in terms of hemoglobin level (P> 0.05). The group with poor prognosis has attained shorter OS compared with those with good and intermediate prognosis (P< 0.001 and P=0.003, respectively). However, the CR rate of the group with good prognosis was higher than that of the intermediate group (P=0.001). For the group with intermediate prognosis, presence of genetic mutations did not correlate with the clinic characteristics such as white blood cell count, blood platelet count, hemoglobin level, OS and CR rate (P> 0.05 for all comparisons).
CONCLUSIONGenetic mutations combined with cytogenetic analysis can facilitate the prognosis and personalized treatment for patients with AML.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Leukemia, Myeloid, Acute ; genetics ; mortality ; Male ; Middle Aged ; Mutation ; Prognosis ; Young Adult


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