A5091908333- Acute Myeloid Leukemia Research
- Multiple Myeloma Research and Treatments
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Epigenetics and DNA Methylation
- Chronic Lymphocytic Leukemia Research
- Hematopoietic Stem Cell Transplantation
- Histone Deacetylase Inhibitors Research
- Hematological disorders and diagnostics
- Lymphoma Diagnosis and Treatment
- Immunodeficiency and Autoimmune Disorders
- Chronic Myeloid Leukemia Treatments
- Neutropenia and Cancer Infections
- Blood disorders and treatments
- Acute Lymphoblastic Leukemia research
- Tumors and Oncological Cases
- Inflammatory Biomarkers in Disease Prognosis
- Glycosylation and Glycoproteins Research
- Platelet Disorders and Treatments
- Chemokine receptors and signaling
- Vascular Malformations and Hemangiomas
- Retinoids in leukemia and cellular processes
- Autoimmune and Inflammatory Disorders
- Erythrocyte Function and Pathophysiology
- Antifungal resistance and susceptibility
- Fungal Infections and Studies
Hospitais da Universidade de Coimbra
2014-2024
University of Coimbra
2010-2023
Research Center for Natural Resources, Environment and Society
2015
Instituto Português de Oncologia de Coimbra Francisco Gentil
2015
Ordem dos Médicos
1980
The imbalance between reactive oxygen species (ROS) production and their elimination by antioxidants leads to oxidative stress. Depending on concentration, ROS can trigger apoptosis or stimulate cell proliferation. We hypothesized that stress mitochondrial dysfunction may participate not only in detected some myelodysplastic syndrome (MDS) patients, but also increasing proliferation other patients. investigated the involvement of MDS pathogenesis, as well assessed diagnostic prognostic...
Long-term granulocyte-colony stimulating factor treatment has been shown to be safe and effective in severe chronic neutropenia patients. However, data on its use during pregnancy are limited. To address this issue, we analyzed all pregnancies reported the European branch of Severe Chronic Neutropenia International Registry since 1994. A total 38 21 women with (16 10 congenital, 6 cyclic, 12 5 idiopathic neutropenia) were reported. Granulocyte-colony was administered throughout 16 for at...
WHIM syndrome is an inherited immune disorder caused by autosomal dominant heterozygous mutation in CXCR4. The disease characterized neutropenia/leukopenia (secondary to retention of mature neutrophils bone marrow), recurrent bacterial infections, treatment-refractory warts, and hypogammaglobulinemia. All mutations reported patients lead the truncations C-terminal domain CXCR4, R334X being most frequent. This defect prevents receptor internalization enhances both calcium mobilization ERK...
Azacitidine (AZA) prolonged overall survival (OS) in the AZA-AML-001 trial. However, few subjects were randomized to AZA or intensive chemotherapy (IC). The Medical Research Council (MRC) and Leukemia Foundation (LRF) developed a score for older AML patients receiving IC non-intensive regimens, whereas E-ALMA study validated response elderly daily practice. Both identified three groups with different risk estimates. This analysis evaluates efficacy of frontline (N = 710) unfit from national...
Chronic antigen-stimulation has been recurrently involved in the earlier stages of monoclonal B-cell lymphocytosis, chronic lymphocytic leukemia and other lymphoproliferative disorders. The expansion two or more clones frequently reported individuals with these conditions; potentially, such coexisting have a greater probability interaction common immunological determinants. Here, we analyzed receptor repertoire molecular profile, as well phenotypic, cytogenetic hematologic features, 228...
Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) share common features: elevated oxidative stress, DNA repair deficiency, aberrant methylation. We performed a hospital-based case-control study to evaluate the association in variants of genes involved folate metabolism, repair, methylation with susceptibility prognosis these malignancies. To that end, 16 SNPs (one per gene: CAT, CYBA, DNMT1, DNMT3A, DNMT3B, GPX1, KEAP1, MPO, MTRR, NEIL1, NFE2F2, OGG1, SLC19A1, SOD1, SOD2,...
Oxidative stress and abnormal DNA methylation have been implicated in cancer, including myelodysplastic syndromes (MDSs). This fact leads us to investigate whether oxidative is correlated with localized global methylations the peripheral blood of MDS patients. Sixty-six patients 26 healthy individuals were analyzed. Several macromolecule damage parameters Localized (gene promotor) (5-mC 5-hmC levels; LINE-1 methylation) assessed. had lower levels reduced glutathione total antioxidant status...
Background Despite bone marrow (BM) immunophenotyping by flow cytometry has progressively been recognized as an important tool for the diagnosis of myelodysplastic syndromes (MDS), sparse knowledge about normal erythroid maturation and lack markers characterization is a major shortcoming. Methods Here, we analyzed expression CD43 CD49d, two included in diagnostic panel B‐cell chronic lymphoproliferative disorders (B‐CLPD), CD34 + compartment BM along dysplastic maturation. For this, 13...
Oxidative stress has been implicated in the development of several types cancer, including myelodysplastic syndromes (MDS), as well resistance to treatment. In this work, we assessed potential oxidative parameters predict response erythropoiesis-stimulating agents (ESAs) lower-risk MDS patients. To end, analyzed systemic levels reactive species (peroxides and NO), antioxidant defenses (uric acid, vitamin E, A, GSH, GSSG, TAS, GPX GR activities], damage (8-OH-dG MDA) 66 patients, from those...
Introdução: A síndrome mielodisplásica é uma doença heterogénea caracterizada por displasia, medula hipercelular, citopenias e risco de evolução para leucemia aguda. Outros factores prognóstico, nomeadamente, fibrose medular, elevação da enzima desidrogenase do lactato β2-microglobulina têm sido descritos, contudo, a decisão terapêutica baseia-se no score International Prognostic Scoring System.Material Métodos: Este trabalho teve como objectivo analisar relevância eritropoietina sérica ao...
Retrospective data was collected from 77 elderly acute myeloid leukemia (AML) patients treated with Azacitidine (AZA) and 50 AML intensive chemotherapy (IC) 4 Portuguese Hospitals. Median OS 10.6 months in those receiving AZA as 1st line. Response (overall response rate 44%) had a significant impact on overall survival (p=<0.0001). of the comparator IC cohort significantly inferior to that observed first line (p=0.0104). These results support efficacy any treatment.
Summary An increasing body of evidence suggests the potential occurrence antigen encounter by cell origin in chronic lymphocytic leukaemia ( CLL ) and ‐like monoclonal B ‐cell lymphocytosis MBL ). However, scenario which this event might occur remains unknown. In order to gain insight into we investigated molecular, cytogenetic haematological features 223 n = 84) 139) clones with stereotyped 32) versus non‐stereotyped 191) immunoglobulin heavy chain variable region IGHV amino acid sequences....
Myelodysplastic syndromes (MDS) are a group of hematological stem cell malignancies strongly associated with aberrant epigenetic anomalies, namely DNA methylation. Blood-based specimens may be potential source noninvasive methylation cancer biomarkers. Systemic profile has been explored in solid tumors but is still largely unknown cancers. We compared status bone marrow (BM) aspirates and peripheral blood (PB) MDS patients at diagnosis. Using MS-PCR, we nine tumor suppressor genes (TSG) P15,...
Background: ANKRD26 ‐related thrombocytopenia ( ‐RT) is a non‐syndromic form of inherited with autosomal dominant transmission, caused by mutations in the 5’UTR region gene. About 8–10% patients develop myeloid neoplasms. Recently, 2016 revision WHO, this entity was recognized group neoplasms germ line predisposition and preexisting platelet disorders Aims: Characterization 3 portuguese families ‐RT. Methods: Study gene mutation. Initial study on NGS platform (Ion Torrent ™, Thermo Fisher...
Acute myeloid leukemia (AML) is a hematopoietic malignancy characterized by clonal proliferation, with increased incidence advancing age. AML myelodysplasia-related changes (AML-MRC) represents an subtype poor prognosis and challenging treatment, particularly in elderly patients. We report the case of 77-year-old patient diagnosed high-risk AML-MRC, ineligible for intensive chemotherapy, frequent need transfusion red cell concentrates. The authors present, to best their knowledge, first...