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Registros recuperados: 3
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Hereditary angioedema with C1 inhibitor (C1-INH) deficit: the strength of recognition (51 cases) BJMBR
Fragnan,N.T.M.L.; Tolentino,A.L.N.; Borba,G.B.; Oliveira,A.C.; Simões,J.A.; Palma,S.M.U.; Constantino-Silva,R.N.; Grumach,A.S..
Hereditary angioedema (HAE) is a rare autosomal dominant disease due to C1 esterase inhibitor deficiency (C1-INH). The disease is characterized by subcutaneous and submucosal edema in the absence of urticaria due to the accumulation of bradykinin. This descriptive study aimed to evaluate the clinical characteristics of patients with a confirmed diagnosis of HAE referred to our Outpatient Clinic between December 2009 and November 2017. Fifty-one patients (38 F, 13 M) with a mean age of 32 years (range: 7–70 y) were included. Family history of HAE was reported in 70% (36/51) of the cases; 33/46 patients became symptomatic by 18 years of age. The median time between onset of symptoms and diagnosis was 13 years (3 mo–50 y). The most frequent triggering factors...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Hereditary angioedema; C1 esterase inhibitor; Diagnosis; Treatment; Complement.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018001200607
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Hypogammaglobulinemia: a diagnosis that must not be overlooked BJMBR
Pimenta,F.M.C.A.; Palma,S.M.U.; Constantino-Silva,R.N.; Grumach,A.S..
Humoral immunological defects are frequent and important causes of hypogammaglobulinemia, leading to recurrent infections, autoimmunity, allergies, and neoplasias. Usually, its onset occurs in childhood or during the second and third decades of life; however, the diagnosis is made, on average, 6 to 7 years afterwards. As a consequence, antibody defects can lead to sequelae. Here we describe the clinical-laboratory characteristics, treatment, and prognoses of patients with hypogammaglobulinemia. An observational, cross-sectional, and retrospective study of patients attending the recently established outpatient group of Clinical Immunology between 2013 and 2018 was carried out. Patients with IgG levels below 2 standard deviations from the mean values for the...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Primary immunodeficiency; Common variable immunodeficiency; Hypogammaglobulinemia; Chemotherapy; Antibody defects; Immunoglobulin therapy.
Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2019001000608
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The use of reverse transcription-PCR for the diagnosis of X-linked chronic granulomatous disease BJMBR
Agudelo-Flórez,P.; López,J.A.; Redher,J.; Carneiro-Sampaio,M.M.S.; Costa-Carvalho,B.T.; Grumach,A.S.; Condino-Neto,A..
Chronic granulomatous disease (CGD) is an inherited disorder of the innate immune system characterized by a defective oxidative burst of phagocytes and subsequent impairment of their microbicidal activity. Mutations in one of the NADPH-oxidase components affect gene expression or function of this system, leading to the phenotype of CGD. Defects in gp91-phox lead to X-linked CGD, responsible for approximately 70% of CGD cases. Investigation of the highly heterogeneous genotype of CGD patients includes mutation analysis, Northern blot or Western blot assays according to the particular case. The aim of the present study was to use reverse transcription (RT)-PCR for the analysis of molecular defects responsible for X-linked CGD in eight Brazilian patients and...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Superoxide; Phagocytes; Primary immunodeficiency; Respiratory burst; Neutrophils; Human.
Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004000500001
Registros recuperados: 3
Primeira ... 1 ... Última
 

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