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Interleukin (IL)-23 receptor, IL-17A and IL-17F gene polymorphisms in Brazilian patients with rheumatoid arthritis

100%

Gomes da Silva I. I. F., Angelo H. D., Rushansky E., Mariano M. H., de Mascena Diniz Maia M., de Souza P. R. E.

Archivum Immunologiae et Therapiae Experimentalis

2017

tom 65

nr 6

Molecular findings in Brazilian patients with osteogenesis imperfecta

84%

Reis F. C., Alexandrino F., Steiner C. E., Norato D. Y. J., Cavalcanti D. P., Sartorato E. L.

Journal of Applied Genetics

2005

tom 46

nr 1

Osteogenesis imperfecta (OI) is a genetic disorder of increased bone fragility and low bone mass. Severity varies widely, ranging from intrauterine fractures and perinatal lethality to very mild forms without fractures. Most patients with a clinical diagnosis of OI have a mutation in the COL1A1 or COL1A2 genes that encode the chains of type I procollagen, the major protein in bones. Hence, the aim of the present study was to identify mutations in the COL1A1 gene in 13 unrelated Brazilian OI patients. This is the first molecular study of OI in Brazil. We found 6 mutations, 4 of them novel (c.1885delG, p.P239A, p.G592S, p.G649D) and 2 previously described (p.R237X and p.G382S). Thus, the findings show that there are no prevalent mutations in our sample, and that their distribution is similar to that reported by other authors, with preponderance of substitutions for glycine in the triple helix domain, causing OI types II, III and IV.

Clinical, epidemiological and laboratory criteria for the diagnosis of human cysticercosis in Brazilian patients

84%

Cavalcante M. M. F. P., Cavalcanti J. E., Costa-Cruz J. M., Barbosa A. P., Silva S. A., Campos D. M. B.

Acta Parasitologica

2006

tom 51

nr 1

Cysticercosis (CC) is a polymorphous disease, which makes its diagnosis difficult. This study had the objective of evaluating the clinical, epidemiological and laboratory criteria in human CC. An epidemiological questionnaire was applied, and indirect fluorescence antibody test (IFAT) and ELISA-IgG were utilized together with computerized tomography and/or magnetic resonance imaging on 90 patients with clinical signs suggestive of neurocysticercosis (NCC). Most patients had previously lived under deficient basic sanitary conditions. The imaging techniques showed that 92.2% of the cysticerci were in the cerebral parenchyma, 5.5% had a ventricular location, 1.1% were periventricular and 1% was ocular. The cysticerci were observed to be predominantly in the inactive phase. Seropositivity to the IFAT and/or ELISA was shown by 32.2% (29/90). Of the 29 seropositive patients, 72.4% presented cysticerci in the inactive form, and of the 61 seronegative patients, 78.7% also presented cysticerci in the inactive form. There was no correlation between active CC and seropositivity, since 72.4% of the seropositive patients presented calcified cysticerci. The results demonstrated that imaging techniques contributed significantly to elucidate the laboratorial diagnosis and to evaluate the stage of cysticercus development.

Ograniczanie wyników

1 Acta Parasitologica

1 Archivum Immunologiae et Therapiae Experimentalis

1 Journal of Applied Genetics

1 Alexandrino F.

1 Angelo H. D.

1 Barbosa A. P.

1 Campos D. M. B.

1 Cavalcante M. M. F. P.

1 Cavalcanti D. P.

1 Cavalcanti J. E.

1 Costa-Cruz J. M.

1 Gomes da Silva I. I. F.

1 Mariano M. H.

1 Norato D. Y. J.

1 Reis F. C.

1 Rushansky E.

1 Sartorato E. L.

1 Silva S. A.

1 Steiner C. E.

1 de Mascena Diniz Maia M.

1 de Souza P. R. E.

1 2017

1 2006

1 2005

Wyniki wyszukiwania

Interleukin (IL)-23 receptor, IL-17A and IL-17F gene polymorphisms in Brazilian patients with rheumatoid arthritis

Molecular findings in Brazilian patients with osteogenesis imperfecta

Clinical, epidemiological and laboratory criteria for the diagnosis of human cysticercosis in Brazilian patients