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BACKGROUND:Stable intertrochanteric fractures can be treated by closed reduction and internal fixation,but there is no absolute advantage for unstable intertrochanteric fractures with osteoporosis. OBJECTIVE:To investigate the efficacy of arthroplasty in the treatment of unstable intertrochanteric fractures in the elderly with osteoporosis by comparing the indexes related to closed reduction internal fixation and arthroplasty. METHODS:Clinical data of 102 elderly patients with unstable intertrochanteric fractures of the femur treated in Affiliated Hospital of Qingdao University from January 2017 to January 2020 were retrospectively analyzed.Patients were divided into two groups according to the surgical method.In the Gamma3 group,62 cases received Gamma3 internal fixation system.In the joint replacement group,40 cases received an artificial femoral head replacement or total hip replacement.Surgical information,hospitalization,hip function,and postoperative complications were compared between the two groups. RESULTS AND CONCLUSION:(1)There were statistical differences between the Gamma3 group and the joint replacement group in weight-bearing time(P<0.001),hospital stay(P<0.05),intraoperative bleeding(P<0.001),and length of surgery(P<0.001).The mean weight-bearing time and hospital stay were shorter in the joint replacement group than in the Gamma3 group.Intraoperative bleeding and duration of surgery were better in the Gamma3 group than in the joint replacement group.(2)There was no significant difference in Harris hip score,subitem centesimal hip score,and postoperative complications 12 months after surgery in both groups(P=0.526,0.788,0.228).(3)It is indicated that arthroplasty has achieved better outcomes in the treatment of elderly unstable intertrochanteric fractures combined with osteoporosis,enabling early weight bearing and functional exercise.Careful selection of the appropriate patient and prosthesis type for arthroplasty will result in greater patient benefit.
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Objective: To evaluate the clinical characteristics and prognostic factors of patients with Philadelphia-negative myeloproliferative neoplasm-accelerated phase/blast phase (MPN-AP/BP) . Methods: A total of 67 patients with MPN-AP/BP were enrolled from February 2014 to December 2021 at the Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences. Their clinical features and prognostic factors were analyzed retrospectively. Results: ① Sixty-seven patients with MPN-AP/BP with a median age of 60 (range, 33-75) years, including 31 males (46.3% ) and 36 females (53.7% ) , were analyzed. Forty-eight patients progressed from primary myelofibrosis (PMF) , and 19 progressed from other myeloproliferative neoplasms (MPNs) , which included polycythemia vera, essential thrombocythemia, and MPN unclassifiable. Patients who progressed from PMF had higher lactate dehydrogenase (LDH) levels than those who progressed from other MPNs (925.95 vs. 576.2 U/L, P=0.011) , and there were higher proportions of patients who progressed from PMF with splenomegaly (81.4% vs. 57.9% , P=0.05) , a myelofibrosis grade of ≥2 (93.6% vs. 63.2% , P=0.004) , and a shorter duration from diagnosis to the transformation to AP/BP (28.7 vs. 81 months, P=0.001) . ② JAK2V617F, CALR, and MPLW515 were detected in 41 (61.2% ) , 13 (19.4% ) , and 3 (4.5% ) patients, respectively, whereas 10 (14.9% ) patients did not have any driver mutations (triple-negative) . Other than driver mutations, the most frequently mutated genes were ASXL1 (42.2% , n=27) , SRSF2 (25% , n=16) , SETBP1 (22.6% , n=15) , TET2 (20.3% , n=13) , RUNX1 (20.3% , n=13) , and TP53 (17.2% , n=11) . The ASXL1 mutation was more enriched (51.1% vs. 21.1% , P=0.03) , and the median variant allele fraction (VAF) of the SRSF2 mutation (median VAF, 48.8% vs. 39.6% ; P=0.008) was higher in patients who progressed from PMF than those who progressed from other MPNs. ③ In the multivariate analysis, the complex karyotype (hazard ratio, 2.53; 95% confidence interval, 1.06-6.05; P=0.036) was independently associated with worse overall survival (OS) . Patients who received allogeneic stem cell transplantation (allo-HSCT) (median OS, 21.3 vs. 3 months; P=0.05) or acute myeloid leukemia-like (AML-like) therapy (median OS, 13 vs. 3 months; P=0.011) had significantly better OS than those who received supportive therapy. Conclusion: The proportions of patients with PMF-AP/BP with splenomegaly, myelofibrosis grade ≥2, a higher LDH level, and a shorter duration from diagnosis to the transformation to AP/BP were higher than those of patients with other Philadelphia-negative MPN-AP/BP. The complex karyotype was an independent prognostic factor for OS. Compared with supportive therapy, AML-like therapy and allo-HSCT could prolong the OS of patients with MPN-AP/BP.
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Masculino , Femenino , Humanos , Adulto , Persona de Mediana Edad , Anciano , Crisis Blástica/tratamiento farmacológico , Mielofibrosis Primaria/genética , Pronóstico , Esplenomegalia , Estudios Retrospectivos , Trastornos Mieloproliferativos/genética , Mutación , Leucemia Mieloide Aguda , Janus Quinasa 2/genéticaRESUMEN
Objective: To explore the molecular features of chronic myelomonocytic leukemia (CMML) . Methods: According to 2022 World Health Organization (WHO 2022) classification, 113 CMML patients and 840 myelodysplastic syndrome (MDS) patients from March 2016 to October 2021 were reclassified, and the clinical and molecular features of CMML patients were analyzed. Results: Among 113 CMML patients, 23 (20.4%) were re-diagnosed as acute myeloid leukemia (AML), including 18 AML with NPM1 mutation, 3 AML with KMT2A rearrangement, and 2 AML with MECOM rearrangement. The remaining 90 patients met the WHO 2022 CMML criteria. In addition, 19 of 840 (2.3%) MDS patients met the WHO 2022 CMML criteria. At least one gene mutation was detected in 99% of CMML patients, and the median number of mutations was 4. The genes with mutation frequency ≥ 10% were: ASXL1 (48%), NRAS (34%), RUNX1 (33%), TET2 (28%), U2AF1 (23%), SRSF2 (21.1%), SETBP1 (20%), KRAS (17%), CBL (15.6%) and DNMT3A (11%). Paired analysis showed that SRSF2 was frequently co-mutated with ASXL1 (OR=4.129, 95% CI 1.481-11.510, Q=0.007) and TET2 (OR=5.276, 95% CI 1.979-14.065, Q=0.001). SRSF2 and TET2 frequently occurred in elderly (≥60 years) patients with myeloproliferative CMML (MP-CMML). U2AF1 mutations were often mutually exclusive with TET2 (OR=0.174, 95% CI 0.038-0.791, Q=0.024), and were common in younger (<60 years) patients with myelodysplastic CMML (MD-CMML). Compared with patients with absolute monocyte count (AMoC) ≥1×10(9)/L and <1×10(9)/L, the former had a higher median age of onset (60 years old vs 47 years old, P<0.001), white blood cell count (15.9×10(9)/L vs 4.4×10(9)/L, P<0.001), proportion of monocytes (21.5% vs 15%, P=0.001), and hemoglobin level (86 g/L vs 74 g/L, P=0.014). TET2 mutations (P=0.021) and SRSF2 mutations (P=0.011) were more common in patients with AMoC≥1×10(9)/L, whereas U2AF1 mutations (P<0.001) were more common in patients with AMoC<1×10(9)/L. There was no significant difference in the frequency of other gene mutations between the two groups. Conclusion: According to WHO 2022 classification, nearly 20% of CMML patients had AMoC<1×10(9)/L at the time of diagnosis, and MD-CMML and MP-CMML had different molecular features.
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Humanos , Anciano , Persona de Mediana Edad , Leucemia Mielomonocítica Crónica/genética , Pronóstico , Factor de Empalme U2AF/genética , Mutación , Síndromes Mielodisplásicos/genética , Leucemia Mieloide Aguda/genéticaRESUMEN
Objective:To investigate the efficacy and safety of plasma exchange(PE) in the treatment of autoimmune hemolytic anemia in children.Methods:The data from 8 hospitals in China during November 2014 to April 2017 were collected, and the clinical characteristics of PE in children with AHA were analyzed retrospectively.Results:A total of 21 children with AHA were included in the study, including 17 cases from PICU and 4 cases from pediatric kidney ward, with 11 boys and 10 girls, and the median age was 3.64(0.25, 11.10)years old, and median hospital stay was 12(4, 45)days.There were 15 cases(71.4%) with infection, 2 cases(9.5%)with autoimmune diseases, 4 cases(19.0%) with unknown.Consciousness disturbance occurred in 4 patients before replacement and recovered to normal after PE.The volume of blood decreased in two cases(9.5%) and completely relieved.There were 20 cases of anemia (95.2%), 15 cases were normal after PE, and 5 cases were improved.Jaundice occurred in 18 cases (85.7%), 12 cases were normal after PE, 6 cases were improved.Hepatosplenomegaly was found in 11 cases, 10 cases were normal after PE, 1 case was improved.After PE, the hemoglobin and red blood cell count increased, while the total bilirubin, indirect bilirubin, urea nitrogen and lactate dehydrogenase decreased, there were significant differences between pre-and post-replacement ( P<0.05). Only 1 case had allergic reaction, which was improved after symptomatic treatment, and PE was continued.After PE, 2 cases (9.5%) had complete remission, 16 cases (76.2%) had partial remission and 3 cases (14.3%) had been discharged. Conclusion:PE therapy can obviously improve the clinical symptoms and laboratory indexes of children with AHA who have failed to respond to conservative treatment.It can be used as a treatment measure for children with severe AHA and has a good safety.
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Objective:To investigate the efficacy and safety of plasma exchange(PE) in the treatment of autoimmune hemolytic anemia in children.Methods:The data from 8 hospitals in China during November 2014 to April 2017 were collected, and the clinical characteristics of PE in children with AHA were analyzed retrospectively.Results:A total of 21 children with AHA were included in the study, including 17 cases from PICU and 4 cases from pediatric kidney ward, with 11 boys and 10 girls, and the median age was 3.64(0.25, 11.10)years old, and median hospital stay was 12(4, 45)days.There were 15 cases(71.4%) with infection, 2 cases(9.5%)with autoimmune diseases, 4 cases(19.0%) with unknown.Consciousness disturbance occurred in 4 patients before replacement and recovered to normal after PE.The volume of blood decreased in two cases(9.5%) and completely relieved.There were 20 cases of anemia (95.2%), 15 cases were normal after PE, and 5 cases were improved.Jaundice occurred in 18 cases (85.7%), 12 cases were normal after PE, 6 cases were improved.Hepatosplenomegaly was found in 11 cases, 10 cases were normal after PE, 1 case was improved.After PE, the hemoglobin and red blood cell count increased, while the total bilirubin, indirect bilirubin, urea nitrogen and lactate dehydrogenase decreased, there were significant differences between pre-and post-replacement ( P<0.05). Only 1 case had allergic reaction, which was improved after symptomatic treatment, and PE was continued.After PE, 2 cases (9.5%) had complete remission, 16 cases (76.2%) had partial remission and 3 cases (14.3%) had been discharged. Conclusion:PE therapy can obviously improve the clinical symptoms and laboratory indexes of children with AHA who have failed to respond to conservative treatment.It can be used as a treatment measure for children with severe AHA and has a good safety.
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Objective: To compare clinical and laboratory features between JAK2 exon12 and JAK2 V617F mutated polycythemia vera (PV) . Method: We collected data from 570 consecutive newly-diagnosed subjects with PV and JAK2 mutation, and compared clinical and laboratory features between patients with JAK2 exon12 and JAK2 V617F mutation. Results: 543 (95.3%) subjects harboured JAK2 V617F mutation (JAK2 V617F cohort) , 24 (4.2%) harboured JAK2 exon12 mutations (JAK2 exon12 cohort) , and 3 (0.5%) harboured JAK2 exon12 and JAK2 V617F mutations. The mutations in JAK2 exon12 including deletion (n=10, 37.0%) , deletion accompanied insertion (n=10, 37.0%) , and missense mutations (n=7, 25.9%) . Comparing with JAK2 V617F cohort, subjects in JAK2 exon12 cohort were younger [median age 50 (20-73) years versus 59 (25-91) years, P=0.040], had higher RBC counts [8.19 (5.88-10.94) ×10(12)/L versus 7.14 (4.11-10.64) ×10(12)/L, P<0.001] and hematocrit [64.1% (53.7-79.0%) versus 59.6% (47.2%-77.1%) , P=0.001], but lower WBC counts [8.29 (3.2-18.99) ×10(9)/L versus 12.91 (3.24-38.3) ×10(9)/L, P<0.001], platelet counts [313 (83-1433) ×10(9)/L versus 470 (61-2169) ×10(9)/L, P<0.001] and epoetin [0.70 (0.06-3.27) versus 1.14 (0.01-10.16) IU/L, P=0.002] levels. We reviewed bone marrow histology at diagnosis in 20 subjects with each type of mutation matched for age and sex. Subjects with JAK2 exon12 mutations had fewer loose megakaryocyte cluster (40% versus 80%, P=0.022) compared with subjects with JAK2 V617F. The median follow-ups were 30 months (range 4-83) and 37 months (range 1-84) for cohorts with JAK2 V617F and JAK2 exon12, respectively. There was no difference in overall survival (P=0.422) and thrombosis-free survival (P=0.900) . Conclusions: Compared with patients with JAK2 V617F mutation, patients with JAK2 exon12 mutation were younger, and had more obvious erythrocytosis and less loose cluster of megakaryocytes.
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Adulto , Anciano , Anciano de 80 o más Años , Humanos , Persona de Mediana Edad , Adulto Joven , Médula Ósea/patología , Exones , Janus Quinasa 2/genética , Mutación , Mutación Missense , Policitemia Vera/genéticaRESUMEN
OBJECTIVE@#To analyze the effects of ozone (O3) concentrations measured with different approaches across different seasons on the total number of childhood asthma-related clinical visits, as well as the differentiation of such effects across different groups of patients.@*METHODS@#The outpatient data of three grade A tertiary hospitals in Lanzhou City spanning from 1 January 2014 to 31 December 2017, as well as air pollution and meteorological data during the same period were collected. Considering the nonlinear relationship between O3 concentrations and the total number of childhood asthma-related clinical visits and meteorological factors, a generalized additive temporal sequence model was employed to analyze the short-term association between changes in O3 concentrations and the total number of childhood asthma-related clinical visits. Taking into account of the variations in O3 concentrations within 1 day, this study adopted different measurement approaches to address the three types of O3 exposures, namely, the maximum 1 h daily concentration (O3max1h), the maximum 8 h daily concentration (O38h) and the mean 24 h daily concentration (O324h) as the short term exposure indicators to O3, followed by a model-based analysis.@*RESULTS@#The increase in short-term exposure levels to O3 in summer had a significant effect on the increase in the total number of childhood asthma-related clinical visits. With lag0 for the current day, every 10 μg/m3 increase in atmospheric concentration of O3max1h was associated with an increase in the total number of childhood asthma-related clinical visits by 3.351% (95%CI: 1.231%-5.516%); for every 10 μg/m3 increase in O38h concentration, the total number of childhood asthma-related clinical visits increased by 3.320% (95%CI: 0.197%-3.829%); for every 10 μg/m3increase in O324h concentration, the total number of childhood asthma-related clinical visits in summer increased by 6.600% (95%CI: 0.914%-12.607%); moreover, an increase in exposure to O3max1h also led to a significant rise in the total number of childhood asthma-related clinical visits among the males.@*CONCLUSION@#The increase in short-term exposure levels to O3 in summer in Lanzhou City has a significant effect on the increase in the total number of childhood asthma-related clinical visits; O3max1h is more closely correlated with the increase in the total number of childhood asthma-related clinical visits.
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Humanos , Masculino , Contaminantes Atmosféricos/análisis , Contaminación del Aire/análisis , Asma/etiología , China/epidemiología , Pacientes Ambulatorios , Ozono/análisis , Material Particulado , Estaciones del Año , Centros de Atención TerciariaRESUMEN
Objective To investigate the incidence of surgical site infection(SSI)following conversion from laparoscopic to open cholecystectomy and to analyze the related risk factors. Methods The clinical data of 179 patients who had experienced conversion from laparoscopic to open cholecystectomy in Peking Union Medical College Hospital from January 2014 to August 2019 were analyzed retrospectively.Univariate and multivariate logistic regression analyses were performed to evaluate the associations between clinical variables and SSI. Results The incidence of SSI was 19.0%(34/179)after conversion from laparoscopic to open cholecystectomy.The multivariable analysis demonstrated that preoperative endoscopic retrograde cholangiopancreatography(ERCP)(
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Humanos , Colecistectomía , Laparoscopía , Estudios Retrospectivos , Factores de Riesgo , Infección de la Herida Quirúrgica/etiologíaRESUMEN
Objective:To investigate the clinicopathological features and treatment strategies of intraductal papillary neoplasm of the bile duct (IPNB).Methods:The retrospective and descriptive study was conducted. The clinicopathological data of 40 patients with IPNB who were admitted to Peking Union Medical College Hospital from August 2000 to April 2020 were collected. There were 19 males and 21 females,aged (60±14) years. Patients underwent preoperative imaging examination and blood test for evaluation of tumor location, range and resectability. The treatment strategies of patients depended on preoperative examination and their own willingness. Observation indicators: (1) preoperative examinations and tests; (2) treatment; (3) pathological examination; (4) follow-up. Follow-up using outpatient examination, telephone interview and online diagnosis was performed to detect tumor recurrence and survival of patients up to April 2021. Count data were represented as absolute numbers and percentages. Measurement data with normal distribution were represented as Mean± SD, and measurement data with skewed distribution were represented as M(range). The Kaplan-Meier method was used to calculate the cumulative survival rate and draw survivla curve. Results:(1) Preoperative examinations and tests: 40 patients received preoperative imaging examination and blood test. Of 40 patients, 33 cases underwent abdominal ultrasonography, 31 cases underwent abdominal computed tomography (CT) examina-tion, 21 cases underwent magnetic resonance imaging (MRI), 15 cases underwent endoscopic retrograde cholangiopancreatography (ERCP), 8 cases underwent position emission tomography CT examination, 6 cases underwent endoscopic ultrasonography; some patients underwent multiple examinations. The main imaging features of IPNB were bile duct dilatation, and intraluminal tumor. Enhanced CT scan showed tumor reinforcement. Preoperative blood tests showed of the 40 patients, 21 cases with abnormal liver function, 17 cases with increased bilirubin, 9 cases with increased carcinoembryonic antigen, and 24 cases with increased CA19-9. (2) Treatment: 35 of 40 patients underwent surgery, 5 patients underwent ERCP and biopsy and didn′t undergo surgery based on their willings. Of 35 patients with surgeries,20 cases underwent hemihepatectomy or lobectomy, 8 cases underwent pancreatico-duodenectomy, 7 cases underwent bile duct tumor resection. The operation time was (262±91)minutes, and volume of intraoperative blood loss was 300 mL(range, 50?2 000 mL). Postopera-tive complications occurred in 6 of 35 patients, including 3 cases with Grade Ⅰ complications and 3 cases with Grade Ⅱ complication according to Clavien-Dindo classi-fication system. (3) Pathological examination: 40 patients were diagnosed as IPNB by pathological examinations. There were 19 and 21 patients with extrahepatic and intrahepatic lesions, respectively. There were 20 benign lesions (15 cases of low or intermediate-grade intraepithelial neoplasia and 5 cases of high-grade intraepithelial neoplasia) and 20 malignant lesions of invasive carcinoma. There were 18 cases with mucus secretion and 22 cases without mucus secretion or information. Five of 35 patients with surgeries had positive margin and the rest of 30 patients had negative margin. A total of 154 lymph nodes were dissected in 21 patients, including 3 positive lymph nodes. (4) Follow-up: 35 of 40 patients were followed up for (53±35)months. Seventeen of 35 patients survived without tumor, and 3 patients survived with tumor of which the time to tumor recurrence were 12, 17, 37 months. Fifteen patients died, with the time interval to death of (30±19)months. The 1-, 3-, and 5-year cumulative survival rates of 35 patients were 88.6%, 73.6%, and 50.7%, respectively.Conclusions:IPNB is rare, with the main imaging features as bile duct dilatation, and intraluminal tumor. The tumor is reinforce-ment after enhanced scan. Surgery is the main treatment for IPNB and lymph node metastasis is rare.
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AIM: To explore the effect of OCTN2 gene polymorphism on the expression and function of OCTN2, as well as the sensitivity of SW480 cells to oxaliplatin. METHODS: Four mutations of OCTN2 (F17L, E317K, S467C and P478L) transfected cell lines were constructed. Real-time RT-PCR and Western blot were used to detect the levels of OCTN2 mRNA and protein. The content of oxaliplatin was detected by HPLC. MTS assay was used to detect cell viability. RESULTS: The expression level of all mutant OCTN2 mRNA and protein was not significantly different from that of wild-type OCTN2. Oxaliplatin uptake experiments showed that there was no significant difference in V
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Objective:To evaluate the efficacy of combining extracorporeal shock wave therapy (ESWT) with local anesthesia in treating chronic plantar fasciitis.Methods:Reports of randomized and controlled trials about treating plantar fasciitis using ESWT were sought in the CNKI, Wanfang, Pubmed, Embase, Cochrane Library and Web of Science databases from their inception until October 2018. Each report found was screened by two independent researchers and the characteristics were abstracted. The risk of bias was assessed according to the methods recommended in the Cochrane Handbook. Version 5.3 of the RevMan software was used for the meta-analysis.Results:Eight reports of randomized and controlled trials were identified covering 779 patients treated with shock wave therapy and 710 controls. The meta-analysis showed that ESWT could significantly relieve the pain and improve functioning. Local anesthesia did not affect the outcome. Focued and radial shock wave were both significantly more effective than placebo stimulation, so as the medium and high-intensity.Conclusions:ESWT can significantly relieve the pain and improve the walking ability of patients with chronic plantar fasciitis. The use of local anesthesia during the intervention and different ESWT modes and intensities will not affect its efficacy.
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Objective: To explore the prognostic effects of mean corpuscular volume (MCV) in patients with myelodysplastic syndromes (MDS) . Methods: 321 newly diagnosed, untransfused primary MDS patients who administered from December 2009 to December 2017 were enrolled. The association of MCV with prognosis and several clinical features and genetic mutations were analyzed. Results: Patients were divided into MCV≤100 fl (n=148) and MCV>100 fl (n=173) cohorts. Median overall survival of patients with MCV≤100 fl was shorter than their counterparts (27 months vs 72 months, P<0.001) . In subgroup analysis, MCV≤100 fl patients had worse survivals in bone marrow blast <5% cohort (34 months vs not reached, P=0.002) , but not so in ≥5 % cohort (17 months vs 20 months, P=0.078) . MCV≤100 fl was still an independent adverse variable (HR=1.890, 95%CI 1.007-3.548, P=0.048) after adjusting for clinical and laboratory variables and mutation topography in bone marrow blasts<5% cohort. In bone marrow blasts<5% cohort, patients with MCV≤100 fl had higher hemoglobin levels [90 (42-153) g/L vs 78.5 (28-146) g/L, P=0.015].The proportions of Revised International Prognostic Scoring System (IPSS-R) high/very high risks and poor/very poor IPSS-R karyotypes were higher in MCV≤100 fl cohort (28.8% vs 10.8%, P=0.003; 24.7% vs 12.9%, P=0.049) . MCV≤100 fl cohort had more genetic mutations than those with MCV>100 fl though without significance (0.988 vs 0.769, P=0.064) . Mutated SF3B1 was less frequently in MCV≤100 fl cohort (4.7% vs 15.4%, P=0.018) . Conclusion: MCV≤100 fl was an independent adverse variable after adjusting for clinical and laboratory variables and mutation topography in MDS patients with bone marrow blasts<5%.
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Humanos , Médula Ósea , Índices de Eritrocitos , Cariotipificación , Síndromes Mielodisplásicos , PronósticoRESUMEN
Objective To validate the accuracy and reliability of structured-light three-dimensional (SL-3D) scanning in measuring the length and area of the regular and irregular scars on body surface and discuss its value in forensic practice. Methods The lengths of 30 cases of simulated linear scars and 50 cases of linear scars after injury were measured using soft ruler, vernier caliper + thin line method, and SL-3D scanning. The areas of 35 cases of simulated patchy scars and 15 cases of patchy scars after injury were measured using length × width, film tracing with coordinate paper method, pixel method, and SL-3D scanning, and then statistically analyzed. Results The differences between the length of the simulated linear scars measured by SL-3D scanning and standard length had no statistical significance. When simulated patchy scars and patchy scars after injury were measured with high surface curvature and large irregular areas, the differences between the results of SL-3D scanning measurement and the standard area had no statistical significance. When the length of 50 cases of linear scars after injury were measured using SL-3D scanning, the correlation coefficient between the measurement results of two different investigators was 0.998, and the correlation coefficient between the two measurement results by the same investigator was 1.000. The correlation coefficient between the results of SL-3D scanning and that of vernier caliper + thin line method was 0.996. Conclusion The three-dimensional information of the scars on the body surface can be acquired using SL-3D scanning. The measurement of the length and area of the scars is not influenced by the location of scars, curvature of surface, and human factors. The measurement results are accurate, reliable and has unique advantages.
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Humanos , Cicatriz/patología , Recolección de Datos , Medicina Legal , Imagenología Tridimensional , Reproducibilidad de los Resultados , Proyectos de InvestigaciónRESUMEN
Objective To explore the association of cardiac disease associated genetic variants and the high incidence of Yunnan sudden unexplained death (YNSUD) in Yi nationality. Methods The genomic DNA was extracted from peripheral blood samples collected from 205 Yi villagers from YNSUD aggregative villages (inpatient group) and 197 healthy Yi villagers from neighboring villages (control group). Fifty-two single nucleotide variants (SNVs) of 25 cardiac disease associated genes were genotyped using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS). The SPSS 17.0 was used to analyze data. The pathogenicities of variants with differences between the two groups that have statistical significance were predicted by protein function prediction software PolyPhen-2 and SIFT. All villagers from inpatient group were given electrocardiogram (ECG) examination using a 12-lead electrocardiograph. Results The allele frequency and the genotype frequency of missense mutation DSG2 (rs2278792, c.2318G>A, p.R773K) of pathogenic genes of arrhythmogenic right ventricular cardiomyopathy (ARVC) in inpatient group was higher than that in control group (P<0.05). Abnormal ECG changes were detected in 71 individuals (34.6%) in the inpatient group, among which 54 individuals carried R773K mutation, including clockwise (counterclockwise) rotation, left (right) axis deviation, ST segment and T wave alteration and heart-blocking. Conclusion Definite pathogenic mutations have not been found in the 52 cardiac disease genes associated SNVs detected in Yi nationality in regions with high incidence of YNSUD. The cause of high incidence of YNSUD in Yi nationality needs further study.
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Humanos , Displasia Ventricular Derecha Arritmogénica , China/epidemiología , Muerte Súbita/etiología , Muerte Súbita Cardíaca/etiología , Etnicidad/genética , Incidencia , MutaciónRESUMEN
Objective To explore the value of thromboelastography (TEG) in patients with multiple trauma in emergency department. Methods The clinical data of 302 patients with multiple trauma hospitalized in the emergency department of Gansu Provincial People's Hospital from August 2015 to December 2018 were retrospectively analyzed. The general clinical data of the patients were collected. The patients were divided into three groups according to injury severity score (ISS): mild injury group (ISS ≤ 16), serious injury group (ISS 17-25), and severe injury group (ISS > 25). The results of vital signs, routine coagulation test, blood routine, blood biochemistry, and arterial blood gas analysis were recorded, and the National early warning score (NEWS) was calculated. TEG parameters were analyzed. Pearson correlation analysis and linear regression analysis were used to analyze the correlation between TEG indicators and NEWS score. Receiver operator characteristic (ROC) curve was plotted to analyze the diagnostic efficacy of TEG indicators for disseminated intravascular coagulation (DIC) in patients with severe injury. Results 299 patients were enrolled in the final analysis, including 92 patients in the mild injury group, 109 in the serious injury group and 98 in the severe injury group. With the increase in trauma severity, the NEWS score and TEG indicators including coagulation reaction time (R value) and blood clot generation time (K value) were gradually increased [NEWS score in mild, serious, and severe injury group was 3.46±0.89, 5.85±0.62, 9.75±1.76, R value (minutes) was 5.8±2.8, 7.8±2.6, 11.7±3.0, and K value (minutes) was 2.4±1.0, 4.2±1.4, 5.5±2.9, respectively], and blood clot generation rate (α angle), maximum width value (MA value) and coagulation index (CI) were gradually decreased [α angle (°) in mild, serious, and severe injury group was 66.9±13.5, 55.7±22.9, 46.8±26.3, MA value (mm) was 51.8±9.7, 48.1±17.0, 38.5±15.2, and CI was 2.0±3.6, -2.8±3.5, -6.7±2.9, respectively], the differences were statistically significant among the groups (all P < 0.05). Pearson correlation analysis showed that the NEWS score was positively correlated with R and K values (r value was 0.463,0.588, respectively, both P < 0.01), and it was negatively correlated with α angle, MA value and CI (r value was -0.622, -0.689, -0.902, respectively, all P < 0.01). Linear correlation analysis showed that for every 1 minute increase in R value, NEWS score increased by 0.882 [95% confidence interval (95%CI) = 0.691 to 1.073]; for every 1 minute increase in K value, NEWS score increased by 0.484 (95%CI = 0.408 to 0.559); for every 1°increase in α angle, NEWS score decreased by 2.910 (95%CI = -3.325 to -2.494); for every 1 mm increase in MA value, NEWS score decreased by 2.223 (95%CI = -2.488 to -1.958); for every 1 increase in CI, NEWS score decreased by 1.292 (95%CI =-1.362 to -1.221). The R and K values in DIC patients (n = 37) of the severe injury group were significantly higher than those in non-DIC patients [n = 61; R value (minutes): 15.8±5.6 vs. 9.8±2.6, K value (minutes): 7.6±3.1 vs. 4.3±2.2], and α angle, MA value and CI were significantly lowered [α angle (°): 48.7±19.8 vs. 59.6±26.2, MA value (mm):37.5±19.2 vs. 49.2±18.6, CI: -8.5±3.4 vs. -5.2±3.1], the differences were statistically significant between the two groups (all P < 0.05). ROC curve analysis showed that the area under ROC curve (AUC) of the R and K values for predicting DIC was 0.999 and 0.958, respectively. When the optimal cut-off value of R value was 12.3 minutes, the sensitivity and specificity were 97.5% and 100%; when the optimal cut-off value of K value was 5.7 minutes, the sensitivity and specificity were 92.5% and 82.0%. The AUC of α angle, MA value and CI were 0.084, 0.060 and 0.114, which had no predictive value. Conclusions TEG indicators have clinical value on predicting the severity of illness in patients with multiple trauma. The changes in R and K values are effective indicators to judge the risk of DIC in patients with severe multiple trauma.
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Objective: To evaluate clinical characteristics and prognosis of primary myelofibrosis (PMF) patients with thrombocytopenia in varied degrees. Methods: Clinical features and survival data of 1 305 Chinese patients with PMF were retrospectively analyzed. The prognostic value of thrombocytopenia in patients with PMF was evaluated. Results: 320 subjects (47%) presented severe thrombocytopenia (PLT<50×10(9)/L), 198 ones (15.2%) mild thrombocytopenia [PLT (50-99)×10(9)/L] and 787 ones (60.3%) without thrombocytopenia (PLT ≥ 100×10(9)/L). The more severe the thrombocytopenia, the higher the proportions of HGB<100 g/L, WBC<4×10(9)/L, circulating blasts ≥ 3%, abnormal karyotype and unfavourable cytogenetics (P<0.001, P<0.001, P=0.004, P<0.001 and P<0.001, respectively) were observed in this cohort of patients. The more severe the thrombocytopenia, the lower the proportion of JAK2V617F positive (P<0.001) was also noticed. Platelet count was positively correlated with splenomegaly, HGB and WBC (P<0.001, correlation coefficients were 0.131, 0.445 and 0.156, respectively). Platelet count was negative correlated with constitutional symptoms and circulating blasts (P=0.009, P=0.045, respectively; correlation coefficients were -0.096 and -0.056, respectively). The median survival of patients with severe thrombocytopenia, mild thrombocytopenia and without thrombocytopenia were 32, 67 and 89 months, respectively (P<0.001). Multivariate analysis identified thrombocytopenia in varied degrees (HR=1.693, 95%CI 1.320-2.173, P<0.001) and Dynamic Internation Prognostic Scoring System(DIPSS) prognostic model (HR=2.051, 95%CI 1.511-2.784, P<0.001) as independent risk factors for survival. Conclusion: PMF patients with severe thrombocytopenia frequently displayed anemia, leucopenia, circulating blasts and short survival, so active treatment measures should be taken especially in these patients.
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Humanos , Mielofibrosis Primaria , Pronóstico , Estudios Retrospectivos , TrombocitopeniaRESUMEN
Objective: To evaluate the efficacy and tolerability of ruxolitinib combined with prednisone, thalidomide and danazol for treatment of in myelofibrosis (MF). Methods: Patients of MF according to the WHO 2016 criteria, received ruxolitinib (RUX) combined with prednisone, thalidomide and danazol (PTD). The response, changes of blood counts and adverse events were evaluated. Results: Six PMF and one post-ET MF patients were enrolled. Four patients presented JAK2V617F mutation, one CALR mutation, one MPL mutation, one triple-negative. Responses per IWG-MRT criteria were clinical improvement in 5 patients, stable disease in 2 ones, spleen response in 6 ones. All of 7 patients were symptomatic responses, four patients achieved at least 50% improvement from baseline on MPN-SAF TSS. Three patients initially treated with RUX alone, all of 3 patients experienced treatment-associated anemia and thrombocytopenia. Then these 3 patients received RUX combined with PTD, both hemoglobin and platelet increased significantly. Four patients initially treated with RUX combined with PTD. Increased levels of hemoglobin and platelet were seen in all of 7 patients received RUX combined with PTD with maximum increased hemoglobin of 30(18-54) g/L and maximum increased platelets of 116(13-369)×10(9)/L, respectively from baseline. The treatment dose of RUX increased due to improved platelet count in 3 patients. The frequent non-hematologic adverse events grade 1-2 were constipation, abdominal distension, crura edema and increased ALT. Conclusions: RUX combined with PTD for treatment of MF may modulate initial hematologic toxicity observed when RUX alone, and may increase response due to improved levels of hemoglobin or platelet.
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Humanos , Danazol , Combinación de Medicamentos , Nitrilos , Proyectos Piloto , Prednisona , Mielofibrosis Primaria/tratamiento farmacológico , Pirazoles/uso terapéutico , Pirimidinas , Talidomida/uso terapéutico , Resultado del TratamientoRESUMEN
Objective: To explore the clinical implications and prognostic value of TP53 gene mutation and deletion in patients with myelodysplastic syndromes (MDS) . Methods: 112-gene targeted sequencing and interphase fluorescence in situ hybridization (FISH) were used to detect TP53 mutation and deletion in 584 patients with newly diagnosed primary MDS who were admitted from October 2009 to December 2017. The association of TP53 mutation and deletion with several clinical features and their prognostic significance were analyzed. Results: Alterations in TP53 were found in 42 (7.2%) cases. Of these, 31 (5.3%) cases showed TP53 mutation only, 8 (1.4%) cases in TP53 deletion only, 3 (0.5%) cases harboring both mutation and deletion. A total of 37 mutations were detected in 34 patients, most of them (94.6%) were located in the DNA binding domain (exon5-8) , the remaining 2 were located in exon 10 and splice site respectively. Patients with TP53 alterations harbored significantly more mutations than whom without alterations (z=-2.418, P=0.016) . The median age of patients with TP53 alterations was higher than their counterparts[60 (21-78) years old vs 52 (14-83) years old, z=-2.188, P=0.029]. TP53 alterations correlated with complex karyotype and International prognostic scoring system intermediate-2/high significantly (P<0.001) . Median overall survival of patients with TP53 alterations was shorter than the others[13 (95%CI 7.57-18.43) months vs not reached, χ(2)=12.342, P<0.001], while the significance was lost during complex karyotype adjusted analysis in multivariable model. Conclusion: TP53 mutation was more common than deletion in MDS patients. The majority of mutations were located in the DNA binding domain. TP53 alterations were strongly associated with complex karyotype and always coexisted with other gene mutations. TP53 alteration was no longer an independent prognostic factor when complex karyotype were occurred in MDS.
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Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Humanos , Persona de Mediana Edad , Adulto Joven , Genes p53 , Hibridación Fluorescente in Situ , Mutación , Síndromes Mielodisplásicos/genética , Pronóstico , Proteína p53 Supresora de TumorRESUMEN
Objective: To observe the clinical characteristics, treatment responses and prognosis of patients with myelodysplastic syndrome (MDS) -del (5q) syndrome who met WHO (2016) diagnostic typing criteria. Methods: A total of 77 patients with del (5q) syndrome, according to WHO (2016) classification, were retrospectively analyzed between January 2008 and April 2018 in the Blood Diseases Hospital, Chinese Academy of Medical Sciences. Clinical characteristics, lenalidomide (LEN) efficacy and survivals were compared between the patients with del (5q) alone and those with one additional cytogenetic abnormality (ACA) with the exception of monosomy 7 or del (7q) . Treatment response and overall survival (OS) were compared between patients who were treated with LEN and traditional non-LEN drugs. Results: Of 77 patients, 64 were isolated del (5q) and 13 were del (5q) with ACA. There were significant differences of the median age and percentage of patients who had small megakaryocytes in bone marrow smear by immunohistochemistry (CD41) between the patients with isolated del (5q) and the patients with del (5q) + ACA[58 (29-64) years old vs 63 (31-82) years old, z=2.164, P=0.030; and 91.7%vs 60.0%, P=0.046, respectively]. The overall hematological response rate (78.9%vs 80.0%) , complete hematological remission (CR) rate (57.9% vs 60.0%) , cytogenetic response (CyR) rate[69.2% (9/13) vs 66.7% (4/6) ] and complete cytogenetic response (CCyR) rate [61.5% (8/13) vs 33.3% (2/6) ] of LEN were similar between the patients with isolated del (5q) (n=19) and with del (5q) + ACA (n=10) , as well as the median Overall survival (OS) between these two groups of patients (62 months vs 78 months, P=0.388) . The hematological response rate (79.3% vs 36.0%) , CR rate (58.6% vs 8.0%) , CyR rate [68.4% (13/19) vs 11.1% (1/9) ] and CCyR rate [52.6% (10/19) vs 0 (0/9) ] were higher among patients treated with LEN (n=29) than those treated with non-LEN therapy (n=25) . There was no statistically significant difference in OS between the patients with LEN or non-LEN therapy (78 months vs 62 months, P=0.297) . Conclusion: Comparing del (5q) syndrome patients with isolated del (5q) or with del (5q) + ACA, two groups of patients had similar clinical characteristics, median OS and LEN efficacy. LEN showed better treatment response than traditional drugs in patients with del (5q) syndrome.
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Adulto , Anciano , Anciano de 80 o más Años , Humanos , Persona de Mediana Edad , Anemia Macrocítica , Lenalidomida , Síndromes Mielodisplásicos , Estudios Retrospectivos , TalidomidaRESUMEN
Objective To discuss the application value of vehicle-pedestrian collision road traffic accidents reconstruction based on PC-Crash software in forensic identification. Methods A case of vehicle-pedestrian collision was chosen based on a tachograph, then PC-Crash software was applied to construct a vehicle-pedestrian collision model, and reconstruct the vehicle-pedestrian collision road traffic accident. Finally, the process of vehicle-pedestrian collision was reproduced. Results In accident reconstruction, when the car speed was lower than 50km/h, the landing point of the pedestrian after collision was in the front of the car. When the car speed was higher than 50 km/h, after collision, the pedestrian flipped towards the car roof and landed behind the car. With the increase of vehicle speed, throwing distance of the pedestrian increased continuously. When the vehicle collision speed reached 60 km/h, the experimental results in this case were basically consistent with the actual situation of the case. Head acceleration of the pedestrian was at the maximum (1 655.70 m/s2) at 0.080 s. Chest acceleration of the pedestrian increased from 597.63 m/s2 to the peak 675.52 m/s2 at 0.055-0.060 s. Tibia acceleration of the pedestrian increased from 759.26 m/s2 to the first peak 1 367.06 m/s2, then reached the maximum speed (1 718.19 m/s2) at 1.225 s. Conclusion The process of vehicle-pedestrian collision road traffic accidents can be reconstructed based on PC-Crash software under a situation of limited conditions, and can further clarify the speed of the vehicle, the location and degree of human body injury as well as the mechanism of damage of the pedestrian in the accident. Therefore, PC-Crash software has a certain practical value in forensic identification of road traffic accidents.