RESUMEN

BCR::ABL1-negative myeloproliferative neoplasms are hematopoietic disorders characterized by panmyelosis. JAK2 V617F is a frequent variant in these diseases and often occurs in the 46/1 haplotype. The G allele of rs10974944 has been shown to be associated with this variant, specifically its acquisition, correlations with familial cases, and laboratory alterations. This study evaluated the association between the 46/1 haplotype and JAK2 V617F in patients with myeloproliferative neoplasms in a population from the Brazilian Amazon. Clinical, laboratory and molecular sequencing analyses were considered. Carriers of the G allele of rs10974944 with polycythemia vera showed an increase in mean corpuscular volume and mean corpuscular hemoglobin, while in those with essential thrombocythemia, there was an elevation in red blood cells, hematocrit, and hemoglobin. Associations were observed between rs10974944 and the JAK2 V617F, in which the G allele (OR 3.4; p < 0.0001) and GG genotype (OR 4.9; p = 0.0016) were associated with JAK2 V617F + and an increase in variant allele frequency (GG: OR 15.8; p = < 0.0001; G: OR 6.0; p = 0.0002). These results suggest an association between rs10974944 (G) and a status for JAK2 V617F, JAK2 V617F + _VAF ≥ 50%, and laboratory alterations in the erythroid lineage.

Asunto(s)

RESUMEN

Acute lymphoblastic leukemia (ALL) is the most common hematologic malignancy in children in childhood. Single-nucleotide polymorphism (SNPs) in key molecules of the immune system, such as Toll-like receptors (TLRs) and CD14 molecules, are associated with the development of several diseases. However, their role in ALL is unknown. A case-control study was performed with 152 ALL patients and 187 healthy individuals to investigate the role of SNPs in TLRs and the CD14 gene in ALL. In this study, TLR6 C > T rs5743810 [OR: 3.20, 95% CI: 1.11-9.17, p = 0.003) and TLR9 C > T rs187084 (OR: 2.29, 95% CI: 1.23-4.26, p = 0.000) seems to be a risk for development of ALL. In addition, the TLR1 T > G rs5743618 and TLR6 C > T rs5743810 polymorphisms with protection against death (OR: 0.17, 95% IC: 0.04-0.79, p = 0.008; OR: 0.48, 95% IC: 0.24-0.94, p = 0.031, respectively). Our results show that SNPs in TLRs genes may be involved in the pathogenesis of ALL and may influence clinical prognosis; however, further studies are necessary to elucidate the role of TLR1, TLR4, TLR5, TLR6, TLR9 and CD14 polymorphisms in this disease.

Asunto(s)

RESUMEN

Risk stratification and treatment intensification, based on minimal residual disease (MRD) mensurement, changed the prognosis of pediatric patients with acute lymphocytic leukemia (ALL). The main aim of this study was to investigate whether peripheral blood (PB) MRD measurement at day 8 (D8) could predict the risk stratification category determined by bone marrow (BM) MRD at day 15 (D15). The study was performed prospectively, in a cohort of 40 children with B-lineage ALL, adopting the protocol of the Brazilian Cooperative Group of the Treatment Childhood Leukemia (GBTLI-2009). MRD was detected by flow cytometry (FC) using a simplifed panel that can reliably identify MRD at early phases of induction therapy. Upon diagnosis, the proportion of low and high-risk patients, was 24:16 (60%:40%). The main result of our study demonstrated the potential of D8 MRD in anticipating of week the risk stratification of high-risk patients as determined by D15 BM MRD. In these patients D8 MRD level of 1% was able to segregate high risk fast responders from high risk slow responders (p = 0.0097). This result could represent an opportunity for early treatment intensification, as already performed in some protocols.

Asunto(s)

RESUMEN

INTRODUCTION: The prevalence of human T-cell lymphotropic virus types 1 and 2 (HTLV-1/2) infection is heterogeneous across different populations. We tested the hypothesis that HTLV-1/2 infection occurs more often in dermatological patients. METHODS: A total of 1,091 patients from a tropical dermatology clinic were tested for HTLV-1/2. In parallel, 6865 first-time blood donors from the same geographic area were screened for HTLV-1/2; HTLV-1/2 positive blood donors underwent dermatological examinations. RESULTS: The prevalence of HTLV-1/2 in first-time blood donors was 0.14%. No co-occurrence of HTLV-1/2 infection and dermatological conditions was observed. CONCLUSIONS: Our results challenge the hypothesis that HTLV-1/2 infection occurs more often in dermatological patients.

Asunto(s)

RESUMEN

A 27-year-old HIV-positive male patient with disseminated cutaneous histoplasmosis was treated with both HAART and amphotericin B (total accumulated dose of 0.5 g). Amphotericin B was later replaced with itraconazole (200mg/day). Two months after therapy had been started and the cutaneous lesions had healed, the patient interrupted both treatments voluntarily and his health deteriorated. HAART was then re-introduced and CD4+ cell count increased sharply at the same time as lymph node histoplasmosis was diagnosed. This paradoxical response? the relapse of histoplasmosis and concomitant increase in CD4+ cell count and undetectable viral load after resumption of HAART ? suggests that this was a case of immune reconstitution inflammatory syndrome (IRIS).

Asunto(s)

RESUMEN

A 21-year-old female presenting linear IgA and IgG disease initially responded well to dapsone therapy. However, the treatment with dapsone was withdrawn due to severe anemia induced by malaria, which led to worsening of the clinical picture. Although prednisone and methylprednisolone were tried, the patient responded only to the association of dapsone and mycophenolate mofetil.

Asunto(s)

RESUMEN

Paciente masculino, 27 anos, portador de HIV, com quadro de histoplasmose cutânea disseminada. Terapia antirretroviral oral e anfotericina B por via EV (dose total acumulada 0,5g) foram introduzidas, verificando-se rápida cicatrização das lesões após duas semanas. A anfotericina B foi substituída por itraconazol (200mg/dia). O paciente interrompeu voluntariamente os tratamentos. A terapia antirretroviral foi reintroduzida, havendo aumento da contagem de células T CD4-positivas (No restante do texto, a autora usa o símbolo "+" (T CD4+) ao invés da palavra "positiva". O que fazer neste caso? Seguimos o padrão do restante do texto ou acatamos essa opção da autora no resumo?!). Neste momento, diagnosticou-se histoplasmose ganglionar. O aumento da contagem de células T CD4-positivas (de novo aqui), associado à redução da carga viral a níveis inferiores ao limite de detecção após a reintrodução da terapia antirretroviral, sugere que essa piora clínica paradoxal seja uma síndrome de restauração imune.

A 27-year-old HIV-positive male patient with disseminated cutaneous histoplasmosis was treated with both HAART and amphotericin B (total accumulated dose of 0.5g). Amphotericin B was later replaced with itraconazole (200mg/day). Two months after therapy had been started and the cutaneous lesions had healed, the patient interrupted both treatments voluntarily and his health deteriorated. HAART was then re-introduced and CD4+ cell count increased sharply at the same time as lymph node histoplasmosis was diagnosed. This paradoxical response? the relapse of histoplasmosis and concomitant increase in CD4+ cell count and undetectable viral load after resumption of HAART ? suggests that this was a case of immune reconstitution inflammatory syndrome (IRIS).

Asunto(s)

RESUMEN

Relata-se o caso de paciente feminina, de 21 anos, com dermatose por IgA e IgG linear. Inicialmente, a resposta clínica foi favorável à dapsona. Após a interrupção desta medicação, por crise de anemia sintomática, precipitada por malária, houve piora da doença, apesar da utilização da prednisona e pulsoterapia com metilprednisolona. A reintrodução da dapsona, associada ao micofenolato mofetil, possibilitou o controle da enfermidade.

A 21-year-old female presenting linear IgA and IgG disease initially responded well to dapsone therapy. However, the treatment with dapsone was withdrawn due to severe anemia induced by malaria, which led to worsening of the clinical picture. Although prednisone and methylprednisolone were tried, the patient responded only to the association of dapsone and mycophenolate mofetil.

Asunto(s)

RESUMEN

Dois casos de paraparesia espástica tropical / mielopatia associada ao HTLV-1 (HAM/TSP) foram diagnosticados no Hemocentro do Amazonas - Hemoam, em familiares de doador de sangue soropositivo para o HTLV-1 assintomático. Aqui descrevemos a investigação familiar, as características clínicas dos casos e as manifestações dermatológicas associadas.

Herein we report on two cases of tropical spastic paraparesis / myelopathy associated with HTLV-1 (HAM/TSP) diagnosed in relatives of a blood donor found positive for HTLV-1 at serologic screening. The donor himself was asymptomatic. Family studies, the clinical characteristics of the cases and the associated dermatologic manifestations are reported.

Asunto(s)

RESUMEN

UNLABELLED: Background Associations between aplastic anemia and numerous drugs, pesticides and chemicals have been reported. However, at least 50% of the etiology of aplastic anemia remains unexplained. DESIGN AND METHODS: This was a case-control, multicenter, multinational study, designed to identify risk factors for agranulocytosis and aplastic anemia. The cases were patients with diagnosis of aplastic anemia confirmed through biopsy or bone marrow aspiration, selected through an active search of clinical laboratories, hematology clinics and medical records. The controls did not have either aplastic anemia or chronic diseases. A total of 224 patients with aplastic anemia were included in the study, each case was paired with four controls, according to sex, age group, and hospital where the case was first seen. Information was collected on demographic data, medical history, laboratory tests, medications, and other potential risk factors prior to diagnosis. RESULTS: The incidence of aplastic anemia was 1.6 cases per million per year. Higher rates of benzene exposure (>/=30 exposures per year) were associated with a greater risk of aplastic anemia (odds ratio, OR: 4.2; 95% confidence interval, CI: 1.82-9.82). Individuals exposed to chloramphenicol in the previous year had an adjusted OR for aplastic anemia of 8.7 (CI: 0.87-87.93) and those exposed to azithromycin had an adjusted OR of 11.02 (CI 1.14-108.02). Conclusions The incidence of aplastic anemia in Latin America countries is low. Although the research study centers had a high coverage of health services, the underreporting of cases of aplastic anemia in selected regions can be discussed. Frequent exposure to benzene-based products increases the risk for aplastic anemia. Few associations with specific drugs were found, and it is likely that some of these were due to chance alone.

Asunto(s)

Asunto(s)

Asunto(s)

RESUMEN

PURPOSE: LATIN is a multinational case-control study designed to identify risk factors for agranulocytosis and to estimate the incidence rate of the disease in some Latin American countries. METHODS: Each study site in Brazil, Argentina and Mexico conducted an active search of agranulocytosis patients in hematology clinics and looked for possible associations with drug use. RESULTS: The overall incidence rate was 0.38 cases per 1 million inhabitant-years. Agranulocytosis patients more often took medications already associated with agranulocytosis than controls (p = 0.01), mainly methimazole (OR 44.2, 95% CI 6.8 to infinity). The population attributable risk percentage (etiologic fraction) was 56%. The use of nutrient supplements was more frequent among patients than controls (p = 0.03). CONCLUSIONS: Agranulocytosis seems to be very rare in Latin America. The lower than expected number of cases identified during the study period precluded estimation of the risk associated to individual drugs, with the exception of methimazol. However, this is the longest series of agranulocytosis cases ever gathered in Latin America, and information on drug exposures was collected prospectively. The conclusion is that drug-induced agranulocytosis does not seem to be a major public health problem in the study regions.

Asunto(s)

RESUMEN

Uma doação de aproximadamente 475mL de sangue depleta em média 242 ± 17 mg de ferro do doador, o que pode ter conseqüências variáveis em suas reservas e na sua saúde. Tivemos por objetivo avaliar se doadores de sangue do Hemocentro do Amazonas - Hemoam desenvolvem sideropenia sem anemia após doações consecutivas. A ferritina sérica foi medida em 528 doadores de sangue, do sexo masculino, com idade entre 18 a 61 anos, divididos em 313 doadores de repetição, com 4 ou mais doações regulares, e 215 primodoadores, que compareceram ao Hemocentro do Amazonas no período de setembro de 2001 a junho de 2002. Depleção do depósito de ferro, definida por níveis de ferritina menores de 20 ng/L, foi encontrada em 7,4 por cento [16/215] dos primodoadores e em 48,6 por cento [152/313] dos doadores de repetição. Utilizando-se de um critério mais rigoroso, como valores de ferritina < 12 ng/L, observou-se que 3,7 por cento [8/215] dos primodoadores e 24,9 por cento [78/313] dos doadores de repetição apresentavam depleção marcial severa. Concluímos que doadores de repetição, a partir da 5ª doação consecutiva, estão sob risco de depleção de reservas de ferro. Esses doadores devem ser monitorados, através da dosagem da ferritina sérica, sendo fundamental discutir um protocolo de reposição de ferro para esses doadores, evitando-se danos à saúde deles e a perda de qualidade do sangue doado.

Asunto(s)

RESUMEN

No relato são apresentados os aspectos da situação transfusional da malária no Brasil, com o registro de 500.000 casos anuais da moléstia e as repercussões da doença nos serviços hemoterápicos e transfusões na região amazônica.

With the registration of 500,000 cases per year of the disease and the repercussions in the hemotherapy and transfusion seruices in the Amazon region, aspects of the transfusion malaria situation are discussed in this report.

Asunto(s)