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1.
Scand J Clin Lab Invest ; 78(3): 159-164, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29310473

RESUMO

According to WHO recommendations, diagnosis of chronic myelomonocytic leukemia (CMML) beforehand requires microscopic examination of peripheral blood to identify dysplasia and/or blasts when monocytes are greater or equal to 1.0 × 109/L and 10% of leucocytes. We analyzed parameters derived from SysmexTM XN analyzers to improve the management of microscopic examination for monocytosis. We analyzed results of the complete blood count and the positioning and dispersion parameters of polymorphonuclear neutrophils and monocytes in 61 patients presenting with CMML and 635 control patients presenting with a reactive monocytosis. We used logistic regression and multivariate analysis to define a score for smear review. Three parameters were selected: neutrophil/monocyte ratio, structural neutrophil dispersion (Ne-WX) and monocyte absolute value. We established an equation in which the threshold of 0.160 guided microscopic examination in the search for CMML abnormalities with a sensitivity of 0.967 and a specificity of 0.978 in the learning cohort (696 samples) and 0.923 and 0.936 in the validation cohort (1809 samples) respectively. We created a score for microscopic smear examination of patients presenting with a monocytosis greater or equal to 1.0 × 109/L and 10% of leucocytes, improving efficiency in laboratory routine practice.


Assuntos
Leucemia Mielomonocítica Crônica/diagnóstico , Leucocitose/diagnóstico , Linfócitos/patologia , Monócitos/patologia , Neutrófilos/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Automação Laboratorial , Contagem de Células Sanguíneas , Estudos de Coortes , Feminino , Humanos , Leucemia Mielomonocítica Crônica/patologia , Leucocitose/patologia , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada
2.
Blood ; 126(11): 1273-80, 2015 Sep 10.
Artigo em Inglês | MEDLINE | ID: mdl-26148990

RESUMO

The Gardos channel is a Ca(2+)-sensitive, intermediate conductance, potassium selective channel expressed in several tissues including erythrocytes and pancreas. In normal erythrocytes, it is involved in cell volume modification. Here, we report the identification of a dominantly inherited mutation in the Gardos channel in 2 unrelated families and its association with chronic hemolysis and dehydrated cells, also referred to as hereditary xerocytosis (HX). The affected individuals present chronic anemia that varies in severity. Their red cells exhibit a panel of various shape abnormalities such as elliptocytes, hemighosts, schizocytes, and very rare stomatocytic cells. The missense mutation concerns a highly conserved residue among species, located in the region interacting with Calmodulin and responsible for the channel opening and the K(+) efflux. Using 2-microelectrode experiments on Xenopus oocytes and patch-clamp electrophysiology on HEK293 cells, we demonstrated that the mutated channel exhibits a higher activity and a higher Ca(2+) sensitivity compared with the wild-type (WT) channel. The mutated channel remains sensitive to inhibition suggesting that treatment of this type of HX by a specific inhibitor of the Gardos channel could be considered. The identification of a KCNN4 mutation associated with chronic hemolysis constitutes the first report of a human disease caused by a defect of the Gardos channel.


Assuntos
Anemia Hemolítica Congênita/genética , Hidropisia Fetal/genética , Canais de Potássio Ativados por Cálcio de Condutância Intermediária/genética , Proteínas Mutantes/genética , Mutação de Sentido Incorreto , Adulto , Sequência de Aminoácidos , Anemia Hemolítica Congênita/sangue , Animais , Pré-Escolar , Eritrócitos Anormais/metabolismo , Feminino , Genes Dominantes , Células HEK293 , Humanos , Hidropisia Fetal/sangue , Técnicas In Vitro , Lactente , Recém-Nascido , Canais de Potássio Ativados por Cálcio de Condutância Intermediária/sangue , Canais de Potássio Ativados por Cálcio de Condutância Intermediária/química , Masculino , Modelos Moleculares , Dados de Sequência Molecular , Proteínas Mutantes/sangue , Proteínas Mutantes/química , Oócitos/metabolismo , Fragilidade Osmótica , Técnicas de Patch-Clamp , Linhagem , Gravidez , Proteínas Recombinantes/genética , Proteínas Recombinantes/metabolismo , Homologia de Sequência de Aminoácidos , Xenopus laevis
5.
Int J Lab Hematol ; 42(6): 697-704, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32639680

RESUMO

INTRODUCTION: In daily practice in haematology laboratories, red blood cell (RBC) abnormalities are frequent and their management is a real challenge. The aim of this study is to establish a "decision tree" using RBC and reticulocyte parameters from the SYSMEX XN-10 analyser to distinguish between patients with a hereditary RBC disease from iron deficiency anaemia and other patients. METHODS: We analysed results of complete RBC counts in a cohort composed of 8217 adults divided into 5 different groups: iron deficiency anaemia (n = 120), heterozygous haemoglobinopathy (n = 92), sickle cell disease syndrome (n = 56), hereditary spherocytosis (n = 18) and other patients (n = 7931). A Classification And Regression Tree (CART) analysis was used to obtain a two-step decision tree in order to predict these previous groups. RESULTS: Five parameters and the calculated RBC score were selected by the CART method: mean corpuscular haemoglobin concentration, percentage of microcytes, distribution width of the RBC histogram, percentage of nucleated red blood cells, immature reticulocytes fraction and finally RBC Score. When applying the tree and recommended flowchart, 158/166 of the RBC hereditary disease patients and 114/120 iron deficiency anaemia patients are detected. Overall, the correct classification rate reached 99.4%. Sensitivity and specificity for RBC disease detection were 95.2% and 99.9%, respectively. These results were confirmed in an independent validation cohort. CONCLUSION: Based on the XN-10 RBC and reticulocyte parameters, we propose a two-step decision tree delivering a good prediction and classification of hereditary RBC diseases. These results can be used to optimize additional reticulocyte analysis and microscopy review.


Assuntos
Anemia Ferropriva/sangue , Anemia Falciforme/sangue , Esferocitose Hereditária/sangue , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Eritrócitos Anormais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Contagem de Reticulócitos/instrumentação , Contagem de Reticulócitos/normas
6.
Cytometry B Clin Cytom ; 96(2): 158-163, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30698327

RESUMO

BACKGROUND: Flow cytometry is a powerful tool for the detection of minimal residual disease (MRD) of B cell precursor acute lymphoblastic leukemia (BCP-ALL) patients. However, the staining process and the choice of antibodies rely on laboratory expertise and may be source of variability or technical errors. Recently, Beckman Coulter commercialized a ready to use tube with dried format reagents for BCP-ALL MRD detection. The aim of this study is to evaluate the applicability of this tube and to compare it to a conventional (liquid format reagents) method. METHODS: Thirty-one samples from B ALL patients were analyzed: 19 bone marrow (BM) aspirations, 10 peripheral blood (PB) samples and 2 cerebrospinal fluids at different stages of the follow-up. In addition, we tested 5 bone marrow samples mixed into non-pathological (control) bone marrow. The dried format tube included seven antibodies: CD45Kro, CD58FITC, CD34ECD, CD10PC5.5, CD19PC7, CD38AA700, CD20AA750, with possibility of additional antibodies for blast markers identified at diagnosis. For comparison, a liquid format tube was prepared, and considered as the reference. RESULTS: This tube was validated for daily routine laboratory, with satisfying qualitative (MRD + or MRD-) and quantitative (MRD percentages) correlation with the reference tube. CONCLUSION: With this single dried format tube, we showed interesting results for BCP-ALL MRD detection in the aim of standardization and reliable interlaboratory results. It allows accurate MRD detection including low levels (10-4), and offers possibility to increase performance (supplementary antibody) within a preestablished effective antibody panel for BCP-ALL MRD. © 2018 International Clinical Cytometry Society.


Assuntos
Anticorpos/imunologia , Citometria de Fluxo , Indicadores e Reagentes , Neoplasia Residual/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras B/diagnóstico , Doença Aguda , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Neoplasia Residual/imunologia , Leucemia-Linfoma Linfoblástico de Células Precursoras B/imunologia , Controle de Qualidade
7.
Cytometry B Clin Cytom ; 96(2): 128-133, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30734503

RESUMO

BACKGROUND: In children with acute lymphoblastic leukemia (ALL) low levels of minimal residual disease (MRD) after induction, essentially assessed in the bone marrow, have been shown to be of good prognosis. However, only few studies have tested the peripheral blood for MRD. METHODS: Here, we report the impact on survival of peripheral blood (PB) MRD assessment by multiparameter flow cytometry (MFC) at early time points of treatment in 125 B-ALL children, compared to Day 35 molecular bone marrow (BM) MRD. Patients were sampled for MFC one week postdiagnosis after a pre-phase of corticotherapy (Day 8), then after one week of chemotherapy (Day 15). The study enrolled 67 boys and 58 girls with a median follow-up of 52 months. Over the duration of the study, 20 patients relapsed and eight died. MFC was performed based on the leukemia-associated immunophenotype at diagnosis, using panels of 10 antibodies. RESULTS: Although, PB MFC-MRD had no prognostic impact at Day 8, Day 15 MRD negativity was associated with a significantly better 4 years DFS (91.6 ± 3% vs. 67.6 ± 9% P = 0.0013). Furthermore, while MFC and molecular data were concordant in most cases, patients with detectable PB MRD on Day 15, yet negative in BM on Day 35 had a significantly lower DFS (P < 0.0001). CONCLUSION: This study demonstrates that the less invasive procedure of MFC-MRD assessment in PB can be informative for childhood ALL patients at the early point of Day 15 of the treatment schedule. © 2019 International Clinical Cytometry Society.


Assuntos
Citometria de Fluxo , Neoplasia Residual/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras B/diagnóstico , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Masculino , Neoplasia Residual/sangue , Leucemia-Linfoma Linfoblástico de Células Precursoras B/sangue
10.
Ann Biol Clin (Paris) ; 75(6): 699-702, 2017 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-29043981

RESUMO

Southeast asian ovalocytosis (SAO) is characterized by macro-ovalocytes and ovalo-stomatocytes on blood smear. SAO is common in Malaisia and Papua-New-Guinea where upwards to 40 per cent of the population is affected in some coastal region. Inherited in an autosomal dominant way, illness results from deletion of codons 400-408 in SLC4A1 gene which encodes for band 3 erythrocyte membrane protein. This deletion is responsible for an unusual erythrocyte stiffness and oval shape of the cells on blood smear. Heterozygous carriers are usually asymptomatic whereas homozygous are not viable without an intensive antenatal care. Here, we describe 4 patients diagnosed incidentally by cytogram appearance of the Advia® 2120i (Siemens) representing hemoglobin concentration according to red blood mean cellular volume (GR/VCH).


Assuntos
Células Sanguíneas/patologia , Eliptocitose Hereditária/diagnóstico , Achados Incidentais , Adulto , Citodiagnóstico/métodos , Citodiagnóstico/normas , Eliptocitose Hereditária/sangue , Eliptocitose Hereditária/patologia , Índices de Eritrócitos , Feminino , Testes Hematológicos , Humanos , Masculino , Pessoa de Meia-Idade , Gravidez , Complicações Hematológicas na Gravidez/sangue , Complicações Hematológicas na Gravidez/diagnóstico , Complicações Hematológicas na Gravidez/patologia , Adulto Jovem
11.
Expert Rev Mol Diagn ; 14(6): 699-712, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24938122

RESUMO

Minimal residual disease (MRD) assays are of a great value to assess treatment efficacy and may provide prognostic information. This is particularly relevant in the era of targeted therapy where the introduction of MRD monitoring has fundamentally transformed the way in which cancer patients are managed. While MRD guidelines are well-established for chronic myeloid leukemia, acute promyelocytic leukemia and acute lymphoblastic leukemia, areas for continuing development are available. High level of standardization and regular external quality control rounds and recommendations for data interpretation remain essential to improve MRD monitoring. In this review, we describe the different applications of MRD assays in most frequent hematologic malignancies and solid cancer and provide an overview of the strengths and potential weaknesses of each method.


Assuntos
Neoplasias Hematológicas/diagnóstico , Neoplasias Hematológicas/patologia , Neoplasia Residual/patologia , Neoplasias/diagnóstico , Neoplasias/patologia , Citometria de Fluxo , Neoplasias Hematológicas/genética , Neoplasias Hematológicas/metabolismo , Humanos , Neoplasias/genética , Neoplasias/metabolismo , Reação em Cadeia da Polimerase
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