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| Chauffaille,M.L.L.F.; Figueiredo,M.S.; Beltrani,R.; Antunes,S.V.; Yamamoto,M.; Kerbauy,J.. |
| Acute promyelocytic leukemia (AML M3) is a well-defined subtype of leukemia with specific and peculiar characteristics. Immediate identification of t(15;17) or the PML/RARA gene rearrangement is fundamental for treatment. The objective of the present study was to compare fluorescent in situ hybridization (FISH), reverse transcriptase-polymerase chain reaction (RT-PCR) and karyotyping in 18 samples (12 at diagnosis and 6 after treatment) from 13 AML M3 patients. Bone marrow samples were submitted to karyotype G-banding, FISH and RT-PCR. At diagnosis, cytogenetics was successful in 10 of 12 samples, 8 with t(15;17) and 2 without. FISH was positive in 11/12 cases (one had no cells for analysis) and positivity varied from 25 to 93% (mean: 56%). RT-PCR was done... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Acute promyelocytic leukemia; Karyotype; FISH; RT-PCR; PML/RARA genem rearrangement. |
| Ano: 2001 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2001000600006 |
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| Duch,C.R.; Figueiredo,M.S.; Ribas,C.; Almeida,M.S.S.; Colleoni,G.W.B.; Bordin,J.O.. |
| It is well established that interleukin-6 (IL-6) is an essential growth factor for multiple myeloma (MM) and patients with increased IL-6 levels have a poor prognosis. In healthy subjects, the presence of the C allele at a polymorphic site (-174 G/C) of the IL-6 gene is related to low IL-6 levels. In view of the potential association of this particular polymorphism with IL-6 concentration, and the relevance of IL-6 in MM pathogenesis, the objective of the present study was to investigate the prevalence of IL-6 (-174 G/C) promoter polymorphism and its association with development of MM in Brazilian individuals. We investigated the prevalence of these alleles in 52 patients and 60 healthy subjects (matched by age, sex, and race) of a Brazilian population.... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Multiple myeloma; Interleukin-6; Polymorphisms. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000200014 |
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| Moreira Neto,F.; Lourenço,D.M.; Noguti,M.A.E.; Morelli,V.M.; Gil,I.C.P.; Beltrão,A.C.S.; Figueiredo,M.S.. |
| Sickle cell disease (SCD) is one of the most common inherited diseases in the world and the patients present notorious clinical heterogeneity. It is known that patients with SCD present activation of the blood coagulation and fibrinolytic systems, especially during vaso-occlusive crises, but also during the steady state of the disease. We determined if the presence of the factor V gene G1691A mutation (factor V Leiden), the prothrombin gene G20210A variant, and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism may be risk factors for vascular complications in individuals with SCD. We studied 53 patients with SCD (60% being women), 29 with SS (sickle cell anemia; 28 years, range: 13-52 years) and 24 with SC (sickle-hemoglobin C disease; 38.5... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Sickle cell disease; SC hemoglobinopathy; Sickle hemoglobinopathies; Inherited hypercoagulation states; MTHFR polymorphism. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006001000004 |
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| Alberto,F.L.; Figueiredo,M.S.; Zago,M.A.; Araújo,A.G.; Dos-Santos,J.E.. |
| Familial hypercholesterolemia (FH) is a common autosomal disorder that affects about one in 500 individuals in most Western populations and is caused by a defect in the low-density-lipoprotein receptor (LDLr) gene. In this report we determined the molecular basis of FH in 59 patients from 31 unrelated Brazilian families. All patients were screened for the Lebanese mutation, gross abnormalities of the LDLr gene, and the point mutation in the codon 3500 of the apolipoprotein B-100 gene. None of the 59 patients presented the apoB-3500 mutation, suggesting that familial defective ApoB-100 (FDB) is not a major cause of inherited hypercholesterolemia in Brazil. A novel 4-kb deletion in the LDLr gene, spanning from intron 12 to intron 14, was characterized in one... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Familial hypercholesterolemia; LDL receptor gene; Lebanese mutation; Haplotype analysis; ApoB-100 gene; Alu sequences. |
| Ano: 1999 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1999000600009 |
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