Browsing by Author "Freitas, I."
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- Adult mastocytosis: a review of the Santo António Hospital 's experience and an evaluation of World Health Organization criteria for the diagnosis of systemic diseasePublication . Fernandes, I.; Teixeira, M.; Freitas, I.; Selores, M.; Alves, R.; Lima, M.BACKGROUND: Mastocytosis is a clonal disorder characterized by the accumulation of abnormal mast cells in the skin and/or in extracutaneous organs. OBJECTIVES: To present all cases of mastocytosis seen in the Porto Hospital Center and evaluate the performance of World Health Organization diagnostic criteria for systemic disease. METHODS: The cases of twenty-four adult patients with mastocytosis were reviewed. Their clinical and laboratorial characteristics were assessed, and the properties of the criteria used to diagnose systemic mastocytosis were evaluated. RESULTS: The age of disease onset ranged from 2 to 75 years. Twenty-three patients had cutaneous involvement and 75% were referred by dermatologists. Urticaria pigmentosa was the most common manifestation of the disease. One patient with severe systemic mast cell mediator-related symptoms showed the activating V560G KIT mutation. The bone marrow was examined in 79% of patients, and mast cell immunophenotyping was performed in 67% of the participants. Systemic disease was detected in 84% of cases, and 81% of the sample had elevated serum tryptase levels. All the diagnostic criteria for systemic mastocytosis had high specificity and positive predictive value. Bone marrow biopsy had the lowest sensitivity, negative predictive value and efficiency, while the highest such values were observed for mast cell immunophenotyping. Patients were treated with regimens including antihistamines, sodium cromoglycate, alpha-interferon, hydroxyurea and phototherapy. CONCLUSIONS: Cutaneous involvement is often seen in adult mastocytosis patients, with most individuals presenting with indolent systemic disease. Although serum tryptase levels are a good indicator of mast cell burden, bone marrow biopsy should also be performed in patients with normal serum tryptase, with flow cytometry being the most adequate method to diagnose systemic disease.
- Caso hematológico: hemorragia tardia pós adeno-amigdalectomiaPublication . Salgado, M.; Costa, E.; Campos, F.; Leite, L.; Freitas, I.; Barbot, J.The authors present the clinical case of a six years old child followed by Pediatric Hematology because of anemia detected after a late hemorrhage following adenotonsillectomy, debating the differential diagnosis and management.
- CONTRIBUTO DA CITOMETRIA DE FLUXO PARA O ESTUDO DOS RETICULÓCITOSPublication . Queirós, M.; Moreira, S.; Leander, M.; Freitas, I.; Cleto, E.; Santos, F.; Henriques, M.; Teixeira, F.; Iglésias, I.; Santos, A.; Santos, M.; Gonçalves, M.; Fonseca, S.; Lau, C.; Bini-Antunes, M.; Teixeira, M.; Pinho, L.; Santos-Silva, A.; Lima, M.Os reticulócitos são eritrócitos jovens cuja presença no sangue periférico (SP) reflecte a actividade eritropoiética da medula óssea. Assim e apesar de, em determinadas situações de stress ou em diversas patologias hematológicas, se poderem encontrar no SP reticulócitos em diferentes estadios de maturação,pouco se sabe acerca deles. Este trabalho teve como objectivo caracterizar fenotipicamente as várias fases de maturação dos reticulócitos por citometria de fluxo (CF).
- INFLUÊNCIA DA INICIATIVA HOSPITAL AMIGO DOS BEBÉS NA TAXA DE SUCESSO DE ALEITAMENTO MATERNOPublication . Freitas, I.; Mendes, J.; Monteiro, P.; Chaves, S.; Moreira, S.; Ferreira, S.
- KIT D816V Positive Acute Mast Cell Leukemia Associated with Normal Karyotype Acute Myeloid LeukemiaPublication . Lopes, M.; Teixeira, M.; Casais, C.; Mesquita, V.; Seabra, P.; Cabral, R.; Palla-Garcia, J.; Lau, C.; Rodrigues, J.; Jara-Acevedo, M.; Freitas, I.; Vizcaíno, J.; Coutinho, J.; Escribano, L.; Orfao, A.; Lima, M.Introduction: Mast cell (MC) leukemia (MCL) is extremely rare. We present a case of MCL diagnosed concomitantly with acute myeloblastic leukemia (AML). Case Report: A 41-year-old woman presented with asthenia, anorexia, fever, epigastralgia, and diarrhea. She had a maculopapular skin rash, hepatosplenomegaly, retroperitoneal adenopathies, pancytopenia, 6% blast cells (BC) and 20% MC in the peripheral blood, elevated lactate dehydrogenase, cholestasis, hypoalbuminemia, hypogammaglobulinemia, and increased serum tryptase (184 μg/L). The bone marrow (BM) smears showed 24% myeloblasts, 17% promyelocytes, and 16% abnormal toluidine blue positive MC, and flow cytometry revealed 12% myeloid BC, 34% aberrant promyelocytes, a maturation blockage at the myeloblast/promyelocyte level, and 16% abnormal CD2-CD25+ MC. The BM karyotype was normal, and the KIT D816V mutation was positive in BM cells. The diagnosis of MCL associated with AML was assumed. The patient received corticosteroids, disodium cromoglycate, cladribine, idarubicin and cytosine arabinoside, high-dose cytosine arabinoside, and hematopoietic stem cell transplantation (HSCT). The outcome was favorable, with complete hematological remission two years after diagnosis and one year after HSCT. Conclusions: This case emphasizes the need of an exhaustive laboratory evaluation for the concomitant diagnosis of MCL and AML, and the therapeutic options.
- MATURAÇÃO DA LINHA ERITRÓIDE NA MEDULA ÓSSEA POR CITOMETRIA DE FLUXOPublication . Queirós, M. L.; Cerejo, L.; Leander, M.; Freitas, I.; Cleto, E.; Barbot, J.; Gonçalves, M.; Santos, M.; Santos, A.; Fonseca, S.; Lau, C.; Teixeira, M. A.; Pinho, L.; Santos-Silva, A.; Lima, M.MATURAÇÃO DA LINHA ERITRÓIDE NA MEDULA ÓSSEA POR CITOMETRIA DE FLUXO Maria Luís Queirós1,2,3, Liliana Cerejo1,4, Magdalena Leander1,3, Inês Freitas3,5, Esmeralda Cleto3,6, José Barbot3,7, Marta Gonçalves1,3, Marlene Santos1,3, Ana Helena Santos1,3,8, Sónia Fonseca1,3, Catarina Lau1,3, Maria Anjos Teixeira1,3, Luciana Pinho1,3, Alice Santos-Silva2, Margarida Lima1,3,8 1Serviço Hematologia Clínica, Laboratório de Citometria, HSA/CHP; 2Serviço de Bioquímica, FF/UP; 3UMIB/ICBAS/UP; 4Mestrado em Análises Clínicas e Saude Pública, ICS/UCP; 5Serviço de Hematologia Laboratorial, HSA/CHP; 6Serviço de Pediatria, HMP/CHP e HSA/CHP; 7Unidade de Hematologia Pediátrica, HMP/CHP; 8Consórcio Euroflow. Hospital de Santo António, Centro Hospitalar do Porto (HSA/CHP), Porto. Faculdade de Farmácia, Universidade do Porto (FF/UP), Porto. Unidade Multidisciplinar de Investigação Biomédica, Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto (UMIB/ICBAS/UP), Porto. Instituto de Ciências da Saúde, Universidade Católica Portuguesa (ICS/UP), Porto. Hospital Maria Pia, Centro Hospitalar do Porto (HSA/CHP), Porto. Consórcio Euroflow. Introdução No processo de maturação dos eritrócitos do sangue (RBC), as células eritróides (ERI) sofrem uma série de mudanças dentro da medula óssea (MO), correspondentes a fases de maturação específicas que são identificadas por microscopia de luz, usando critérios morfológicos e citoquímicos. No entanto, pouco se sabe sobre as alterações imunofenotipicas que caracterizam a maturação ERI normal. Objectivo Caracterizar fenotipicamente as várias fases de maturação da linha eritróide por citometria de fluxo (CF). Material e Métodos Foram estudados por CF 15 aspirados de medula óssea de indivíduos adultos sem doença hematológica. O estudo foi efectuado utilizando o tubo de 8 cores recomendado pelo consórcio Euroflow para o estudo das ERI nas síndromes mielodisplásicos (SMD): anti-CD45 (PO) / anti-HLA-DR (PB) / anti-CD71 (APC-H7) / anti-CD33 (APC) /anti-CD117 (PC7) / anti-CD34 (PERCP Cy5.5) / anti-CD105 (PE) / anti-CD36 (FITC). As amostras foram adquiridas no citómetro NaviosTM (Becman Coulter) e analisadas com o software Infinicyt (Cytognos). Resultados Utilizando este protocolo identificamos 4 estadios imunofenotípicos, um correspondendo às ERI mais imaturas (estadio 1: CD71+CD36+CD105+CD117+CD34+; média de 0.9%; variando de 0.1 a 1.7%) e três estadios subsequentes caracterizados pela perda sequencial de CD34 (estadio 2: CD71+CD36+CD105+CD117+CD34-; 5.6%, 3.4 a 7.6%), CD117 (estadio 3: CD71+CD36+CD105+CD117-CD34-; 32.2%; 15.6 a 49.8%) e CD105 (estadio 4: CD71+CD36+CD105-CD117-CD34-; 61.3%, 41.1 a 78.2%) Discussão O tubo recomendado pelo Euroflow para o estudo das ERI nos SMD permitiu identificar 4 estadios de diferenciação dos RBC, os quais correspondem provavelmente aos quatro estadios que são identificados convencionalmente por critérios morfológicos: estadios 1 - pró-eritroblastos; estadio 2 - eritroblastos basófilos; estadio 3 - eritroblastos policromáticos; e estadio 4 - eritroblastos ortocromáticos. É necessário efectuar mais estudos para caracterizar melhor estas populações, para as comparar com as obtidas por critérios morfológicos e para as utilizar para identificar e monitorizar alterações nas ERI em várias doenças hematológicas primárias e secundárias. Apresentador: Maria Luís Queirós, Técnica Superior de Saúde, Serviço Hematologia Clínica, Laboratório de Citometria, HSA/CHP; Aluna de Doutoramento em Ciências Farmacêuticas, FF/UP.
- A pilot study on the usefulness of peripheral blood flow cytometry for the diagnosis of lower risk myelodysplastic syndromes: the "MDS thermometer"Publication . Aires, A.; Teixeira, M.; Lau, C.; Moreira, C.; Spínola, A.; Mota, A.; Freitas, I.; Coutinho, J.; Lima, M.Background: Immunophenotypic analysis of the bone marrow (BM) cells has proven to be helpful in the diagnosis of Myelodysplastic Syndromes (MDS). However, the usefulness of flow cytometry (FCM) for the detection of myelodysplasia in the peripheral blood (PB) still needs to be investigated. The aim of this pilot study was to evaluate the value of FCM-based PB neutrophil and monocyte immunophenotyping for the diagnosis of lower risk MDS (LR-MDS). Methods: We evaluated by 8-color FCM the expression of multiple cell surface molecules (CD10, CD11b, CD11c, CD13, CD14, CD15, CD16, CD34, CD45, CD56, CD64 and HLA-DR) in PB neutrophils and monocytes from a series of 14 adult LR-MDS patients versus 14 normal individuals. Results: Peripheral blood neutrophils from patients with LR-MDS frequently had low forward scatter (FSC) and side scatter (SSC) values and low levels of CD11b, CD11c, CD10, CD16, CD13 and CD45 expression, in that order, as compared to normal neutrophils. In addition, patients with LR-MDS commonly display a higher fraction of CD14+CD56+ and a lower fraction of CD14+CD16+ monocytes in the PB. Based on these results, we proposed an immunophenotyping score based on which PB samples from patients with LR-MDS could be distinguished from normal PB samples with a sensitivity 93% and a specificity of 100%. In addition, we used this score to construct the MDS Thermometer, a screening tool for detection and monitoring of MDS in the PB in clinical practice. Conclusions: Peripheral blood neutrophil and monocyte immunophenotyping provide useful information for the diagnosis of LR-MDS, as a complement to cytomorphology. If validated by subsequent studies in larger series of MDS patients and extended to non-MDS patients with cytopenias, our findings may improve the diagnostic assessment and avoid invasive procedures in selected groups of MDS patients.
- Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcomePublication . Fernandes, I.; Sampaio, R.; Moreno, F.; Palla-Garcia, J.; Teixeira, M.; Freitas, I.; Neves, E.; Jara-Acevedo, M.; Escribano, L.; Lima, M.BACKGROUND: Mastocytosis are rare diseases characterized by an accumulation of clonal mast cells (MCs) in one or multiple organs or tissues. Patients with systemic mastocytosis (SM), whose MCs frequently arbor the activating D816V KIT mutation, may have indolent to aggressive diseases, and they may experience MC mediator related symptoms. Indolent SM with recurrent anaphylaxis or vascular collapse in the absence of skin lesions, ISMs(-), is a specific subtype indolent SM (ISM), and this clonal MC activation disorder represents a significant fraction of all MC activation syndromes. The V560G KIT mutation is extremely rare in patients with SM and its biological and prognostic impact remains unknown. CASE PRESENTATION: A 15-year old boy was referred to our hospital because of repeated episodes of flushing, hypotension and syncope since the age of 3-years, preceded by skin lesions compatible with mastocytosis on histopathology that had disappeared in the late-early childhood. Diagnosis of ISM, more precisely the ISMs(-) variant, was confirmed based on the clinical manifestations together with increased baseline serum tryptase levels and the presence of morphologically atypical, mature appearing (CD117+high, FcεRI+) phenotypically aberrant (CD2+, CD25+) MCs, expressing activation-associated markers (CD63, CD69), in the bone marrow. Molecular genetic studies revealed the presence of the KIT V560G mutation in bone marrow MCs, but not in other bone marrow cells, whereas the screening for mutations in codon 816 of KIT was negative. The patient was treated with oral disodium cromoglycate and the disease had a favorable outcome after an eleven-year follow-up period, during which progressively lower serum tryptase levels together with the fully disappearance of all clinical manifestations was observed. CONCLUSIONS: To the best of our knowledge this first report of a patient with ISM, whose bone marrow MCs carry the KIT V560G activating mutation, manifesting as recurrent spontaneous episodes of flushing and vascular collapse in the absence of skin lesions at the time of diagnosis, in whom disodium cromoglycate had led to long term clinical remission.
- Teste da eosina-5-maleimida (EMA), para o diagnóstico de esferocitose hereditária: experiência do Laboratório de Citometria de fluxo do Centro Hospitalar do PortoPublication . Queirós, M.; Antas, P.; Rocha, S.; Leander, M.; Freitas, I.; Cleto, E.; Barbot, J.; Rodrigues, J.; Gonçalves, M.; Santos, M.; Santos, A.; Oliveira, L.; Fonseca, S.; Lau, C.; Teixeira, M.; Pinho, L.; Santos-Silva, A.; Lima, M.