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991.
BCR‐ABL1 kinase domain mutational analysis of CD34+ stem/progenitor cells in newly diagnosed CML patients by next‐generation sequencing
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992.
Paola Quarello Emanuela Garelli Adriana Carando Rebecca Cillario Alfredo Brusco Elisa Giorgio Daniela Ferrante Paola Corti Marco Zecca Matteo Luciani Filomena Pierri Maria C. Putti Maria E. Cantarini Piero Farruggia Angelica Barone Simone Cesaro Giovanna Russo Franca Fagioli Irma Dianzani Ugo Ramenghi the AIEOP working group on Diamond Blackfan Anaemia 《British journal of haematology》2020,190(1):93-104
Diamond–Blackfan anaemia (DBA) is a rare and heterogeneous disease characterised by hypoplastic anaemia, congenital anomalies and a predisposition for malignancies. The aim of this paper is to report the findings from the Italian DBA Registry, and to discuss the Registry’s future challenges in tackling this disease. Our 20-year long work allowed the connection of 50 Italian Association of Paediatric Haematology and Oncology (AIEOP) centres and the recruitment of 283 cases. Almost all patients have been characterised at a molecular level (96%, 271/283), finding a causative mutation in 68% (184/271). We confirm the importance of determination of erythrocyte adenosine deaminase activity (eADA) and of ribosomal RNA assay in the diagnostic pipeline and characterisation of a remission state. Patients with mutations in large ribosomal subunit protein (RPL) genes had a significant correlation with the incidence of malformations, higher eADA levels and more severe outcomes, compared to patients with mutations in small ribosomal subunit protein (RPS) genes. Furthermore, as a consequence of our findings, particularly the incidence of malignancies and the high percentage of patients aged >18 years, we stress the importance of collaboration with adult clinicians to guarantee regular multi-specialist follow-up. In conclusion, this study highlights the importance of national registries to increase our understanding and improve management of this complex disease. 相似文献
993.
Maria E. R. Coste Carolina N. Frana Maria Cristina Izar Daniela Teixeira Mayari E. Ishimura Ieda Longo-Maugeri Amanda S. Bacchin Henrique Tria Bianco Flavio T. Moreira Ibraim Masciarelli Pinto Gilberto Szarf Adriano Mendes Caixeta Otavio Berwanger Iran Gonalves Jr Francisco A. H. Fonseca 《Arquivos brasileiros de cardiologia》2020,115(6):1104
BackgroundPatients with acute myocardial infarction may have a large infarcted area and ventricular dysfunction despite early thrombolysis and revascularization.ObjectiveTo investigate the behavior of circulating cytokines in patients with ST-segment elevation myocardial infarction (STEMI) and their relationship with ventricular function.MethodsIn the BATTLE-AMI (B and T Types of Lymphocytes Evaluation in Acute Myocardial Infarction) trial, patients with STEMI were treated with a pharmacoinvasive strategy. The plasma levels of cytokines (IL-1 β , IL-4, IL-6, IL-10, and IL-18) were tested using enzyme-linked immunosorbent assay (ELISA) at baseline and after 30 days. Infarcted mass and left ventricular ejection fraction (LVEF) were examined by 3-T cardiac magnetic resonance imaging. All p-values < 0.05 were considered statistically significant.ResultsCompared to baseline, lower levels were detected for IL-1 β (p = 0.028) and IL-18 (p < 0.0001) 30 days after STEMI, whereas higher levels were observed for IL-4 (p = 0.001) and IL-10 (p < 0.0001) at that time point. Conversely, no changes were detected for IL-6 levels (p = 0.63). The levels of high-sensitivity C-reactive protein and IL-6 correlated at baseline (rho = 0.45, p < 0.0001) and 30 days after STEMI (rho = 0.29, p = 0.009). At baseline, correlation between IL-6 levels and LVEF was also observed (rho = -0.50, p = 0.004).ConclusionsDuring the first month post-MI, we observed a marked improvement in the balance of pro- and anti-inflammatory cytokines, except for IL-6. These findings suggest residual inflammatory risk. (Arq Bras Cardiol. 2020; [online].ahead print, PP.0-0) 相似文献
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Olegário Isabel Cristina Hesse Daniela Mendes Fausto Medeiros Bonifácio Clarissa Calil Raggio Daniela Prócida 《Clinical oral investigations》2019,23(4):1761-1770
Clinical Oral Investigations - To evaluate the survival of atraumatic restorative treatment (ART) restorations using high viscosity glass ionomer cement (GIC), compomer (COM), and glass carbomer... 相似文献
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Daniela S. Ardelean Mirjana Jerkic Melissa Yin Madonna Peter Bo Ngan Robert S. Kerbel F. Stuart Foster Michelle Letarte 《Angiogenesis》2014,17(1):129-146
Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia associated with dysregulated angiogenesis and arteriovascular malformations. The disease is caused by mutations in endoglin (ENG; HHT1) or activin receptor-like kinase 1 (ALK1; HHT2) genes, coding for transforming growth factor β (TGF-β) superfamily receptors. Vascular endothelial growth factor (VEGF) has been implicated in HHT and beneficial effects of anti-VEGF treatment were recently reported in HHT patients. To investigate the systemic angiogenic phenotype of Endoglin and Alk1 mutant mice and their response to anti-VEGF therapy, we assessed microvessel density (MVD) in multiple organs after treatment with an antibody to mouse VEGF or vehicle. Lungs were the only organ showing an angiogenic defect, with reduced peripheral MVD and secondary right ventricular hypertrophy (RVH), yet distinctly associated with a fourfold increase in thrombospondin-1 (TSP-1) in Eng +/? versus a rise in angiopoietin-2 (Ang-2) in Alk1 +/? mice. Anti-VEGF treatment did reduce lung VEGF levels but interestingly, led to an increase in peripheral pulmonary MVD and attenuation of RVH; it also normalized TSP-1 and Ang-2 expression. Hepatic MVD, unaffected in mutant mice, was reduced by anti-VEGF therapy in heterozygous and wild type mice, indicating a liver-specific effect of treatment. Contrast-enhanced micro-ultrasound demonstrated a reduction in hepatic microvascular perfusion after anti-VEGF treatment only in Eng +/? mice. Our findings indicate that the mechanisms responsible for the angiogenic imbalance and the response to anti-VEGF therapy differ between Eng and Alk1 heterozygous mice and raise the need for systemic monitoring of anti-angiogenic therapy effects in HHT patients. 相似文献