RESUMO
Patients with Gaucher type 1 (GD1) throughout Argentina were enrolled in the Argentine bone project to evaluate bone disease and its determinants. We focused on presence and predictors of bone lesions (BL) and their relationship to therapeutic goals (TG) with timing and dose of enzyme replacement therapy (ERT). A total of 124 patients on ERT were enrolled in a multi-center study. All six TG were achieved by 82% of patients: 70.1% for bone pain and 91.1% for bone crisis. However, despite the fact that bone TGs were achieved, residual bone disease was present in 108 patients on ERT (87%) at time 0. 16% of patients showed new irreversible BL (bone infarcts and avascular osteonecrosis) despite ERT, suggesting that they appeared during ERT or were not detected at the moment of diagnosis. We observed 5 prognostic factors that predicted a higher probability of being free of bone disease: optimal ERT compliance; early diagnosis; timely initiation of therapy; ERT initiation dose ≥45 UI/kg/EOW; and the absence of history of splenectomy. Skeletal involvement was classified into 4 major phenotypic groups according to BL: group 1 (12.9%) without BL; group 2 (28.2%) with reversible BL; group 3 (41.9%) with reversible BL and irreversible chronic BL; and group 4 (16.9%) with acute irreversible BL. Our study identifies prognostic factors for achieving best therapeutic outcomes, introduces new risk stratification for patients and suggests the need for a redefinition of bone TG. Am. J. Hematol. 91:E448-E453, 2016. © 2016 Wiley Periodicals, Inc.
Assuntos
Doenças Ósseas/diagnóstico , Doença de Gaucher/complicações , Adolescente , Adulto , Idoso , Argentina , Doenças Ósseas/etiologia , Doenças Ósseas/patologia , Criança , Diagnóstico Precoce , Terapia de Reposição de Enzimas , Doença de Gaucher/diagnóstico , Doença de Gaucher/tratamento farmacológico , Doença de Gaucher/epidemiologia , Humanos , Adesão à Medicação , Pessoa de Meia-Idade , Fenótipo , Prognóstico , Medição de Risco , Esplenectomia , Adulto Jovem , beta-Glucosidase/uso terapêuticoRESUMO
The impaired hematopoiesis in acquired aplastic anemia (AA) results from immune-mediated mechanisms. We characterized polymorphisms implicated in controlling type-1 cytokine production in 69 patients with AA. Our data suggest that the studied polymorphisms are not associated with susceptibility in the overall AA population. However, the presence of the higher expressing TNF - 308A allele was associated with younger age (p = 0.0297) and more profound neutropenia (p = 0.0312), and over-represented in patients with very severe AA (p = 0.0168). The higher producing IFNG 12 CA-repeat allele showed strong linkage disequilibrium with the + 874T allele, and was associated with a lower hemoglobin level (p = 0.0351). Also, the presence of at least one higher expressing variant was more frequent among patients responding to immunosuppressive treatment (p = 0.0519). Our findings suggest that the presence of higher expressing variants of tumor necrosis factor-α (TNF-α) and interferon-γ (IFN-γ) in AA patient genotypes could be related to clinical parameters, disease severity and therapy outcomes.
Assuntos
Anemia Aplástica/genética , Repetições de Dinucleotídeos/genética , Interferon gama/genética , Polimorfismo de Nucleotídeo Único , Fator de Necrose Tumoral alfa/genética , Adolescente , Adulto , Idoso , Anemia Aplástica/patologia , Soro Antilinfocitário/uso terapêutico , Argentina , Criança , Pré-Escolar , Ciclosporina/uso terapêutico , Quimioterapia Combinada , Feminino , Frequência do Gene , Genótipo , Humanos , Imunossupressores/uso terapêutico , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento , Adulto JovemRESUMO
El compromiso del sistema nervioso central (SNC) por Linfoma de Hodgkin es infrecuente. El tratamiento con Gemcitabina/Vinorelbina es efectivo y bien tolerado en pacientes con Linforma de Hodkgin recaídos/refractarios.
Central nervous system involvement by Hodgkin is rare. Gemcitabine/Vinorelbine is an effective and well tolerated regimen for patients with relapsed and refractory Hodgkin's lymphoma.
Assuntos
Humanos , Masculino , Adolescente , Antimetabólitos Antineoplásicos/administração & dosagem , Sistema Nervoso Central , Doença de Hodgkin/terapia , Depleção Linfocítica , Protocolos de Quimioterapia Combinada Antineoplásica/farmacologia , Recidiva Local de Neoplasia/terapiaRESUMO
El estómago constituye la localización más frecuente del linfoma no-Hodgkin extranodal. El linfoma difuso de células grandes B es el tipo histológico predominante. Es un linfoma agresivo que inicialmente se presenta como enfermedad localizada asociada o no a la infección con Helicobacter pylori. El tratamiento conservador con regímenes quimioterápicos con antraciclina seguidos o no por radioterapia en campos comprometidos ha reemplazado a la gastrectomía como tratamiento de primera línea.
The stomach is the extranodal site most commonly involved by non-Hodgkin lymphomas. Diffuse large B-cell lymphoma is the most common histotype category arising in this organ. This is an aggressive lymphoma usually presenting as limited disease, being associated or not to Helicobacter pylori infection. Conservative treatment with anthracycline-containing chemotherapy, followed or not by involved-field radiotherapy has replaced gastrectomy as standard approach against this malignancy.