Case report of adult T-cell lymphoma/leukemia / Relato de caso de linfoma/leucemia de células T do adulto

The adult T-cell leukemia/lymphoma (ATLL) is a rare type of lymphoma caused by human T lymphotropic virus type 1 (HTLV-1). The clinical manifestations include cutaneous lesions, adenopathies, myelopathy/ tropical spastic paraparesis, uveitis, ophthalmological diseases, leukocytosis with lymphocytosis and atypical lymphocytes. The main objective of this study was to report a case of a female patient with ATLL, a farmer with leukocytosis, lymphocytosis, bilateral ocular erythema, cervical lymphadenopathy, in the abdominal visceromegalies and with positive markers for T-cell lymphocytes (CD45, CD2, CD3, CD5, CD4 and CD25). Although ATLL is a rare disease, its delayed diagnosis may lead to serious complications and fatal outcome.

O linfoma/leucemia de células T do adulto (ATLL) é um tipo raro de linfoma causado pelo vírus T-linfotrópico humano tipo I (HTLV-1). O quadro clínico inclui lesões de pele, adenomegalias, mielopatia/paraparesia espástica tropical, uveíte, doença oftalmológica, leucocitose com linfocitose e linfócitos atípicos. O objetivo deste estudo foi relatar o caso de uma paciente com ATLL, agricultora, com leucocitose, linfocitose, eritema ocular bilateral, linfadenopatia cervical, sem visceromegalias abdominais e com marcadores positivos para linfócitos T (CD45, CD2, CD3, CD5, CD4 e CD25). Embora a ATLL seja uma doença rara, a demora no seu diagnóstico pode levar a sérias complicações e ocasionar a morte do paciente.

Frequency of paroxysmal nocturnal hemoglobinuria in patients attended in Belém, Pará, Brazil

BACKGROUND: Paroxysmal nocturnal hemoglobinuria is a hematological disease with complex physiopathology. It is genetically characterized by a somatic mutation in the PIG-A gene (phosphatidylinositol glycan anchor biosynthesis, class A), in which the best known antigens are DAF (decay accelerating factor or CD55) and MIRL (membrane inhibitor of reactive lysis or CD59). OBJECTIVE: To determine the frequency of paroxysmal nocturnal hemoglobinuria in patients attended at the HEMOPA foundation from November 2008 to July 2009. METHOD: Thirty patients, with ages ranging from two to 79 years old and suspected of having paroxysmal nocturnal hemoglobinuria were examined. All patients were immunophenotyped by flow cytometry for the CD5, CD59, CD16 and CD45 antigens. RESULTS: Paroxysmal nocturnal hemoglobinuria was identified in nine of the thirty patients investigated. Another 3 cases had inconclusive results with CD59-negative labeling only for neutrophils. The highest frequency of paroxysmal nocturnal hemoglobinuria patients (7/9) and inconclusive cases (2/3) were between 19 years old and 48 years old, with a median of 28 years. CONCLUSION: These results show the importance of flow cytometry to identify cases in which patients are deficient in only one antigen (CD59).

Frequency of paroxysmal nocturnal hemoglobinuria in patients attended in Belém, Pará, Brazil.

BACKGROUND: Paroxysmal nocturnal hemoglobinuria is a hematological disease with complex physiopathology. It is genetically characterized by a somatic mutation in the PIG-A gene (phosphatidylinositol glycan anchor biosynthesis, class A), in which the best known antigens are DAF (decay accelerating factor or CD55) and MIRL (membrane inhibitor of reactive lysis or CD59). OBJECTIVE: To determine the frequency of paroxysmal nocturnal hemoglobinuria in patients attended at the HEMOPA foundation from November 2008 to July 2009. METHOD: Thirty patients, with ages ranging from two to 79 years old and suspected of having paroxysmal nocturnal hemoglobinuria were examined. All patients were immunophenotyped by flow cytometry for the CD5, CD59, CD16 and CD45 antigens. RESULTS: Paroxysmal nocturnal hemoglobinuria was identified in nine of the thirty patients investigated. Another 3 cases had inconclusive results with CD59-negative labeling only for neutrophils. The highest frequency of paroxysmal nocturnal hemoglobinuria patients (7/9) and inconclusive cases (2/3) were between 19 years old and 48 years old, with a median of 28 years. CONCLUSION: These results show the importance of flow cytometry to identify cases in which patients are deficient in only one antigen (CD59).

Deficiência congênita associada do fator V e do fator VIII: relato de dois casos em uma família / Congenital deficiency associated to V and VIII factors: report of 2 cases in a family

A deficiencia Congênita Associada do Fator V (Proacelerina) e Fator VIII (Globulina Anti-hemofílica) é uma doença rara da coagulaçäo sangüinea, de interesse näo sómente clínico, mas também nos problemas concernentes ao modo de transmissäo desta deficiência congênita associada dos fatores V e VII em duas irmäs, de pais consangüineos. Uma tentativa de classificaçäo da deficiência associada destes fatores em dois grupos é proposta. O modo de transfusöes de plasma e de crioprecipitado também foi observado