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| Pilonetto,D.V.; Pereira,N.F.; Bitencourt,M.A.; Magdalena,N.I.R.; Vieira,E.R.; Veiga,L.B.A.; Cavalli,I.J.; Ribeiro,R.C.; Pasquini,R.. |
| Fanconi anemia is a rare hereditary disease showing genetic heterogeneity due to a variety of mutations in genes involved in DNA repair pathways, which may lead to different clinical manifestations. Phenotypic variability makes diagnosis difficult based only on clinical manifestations, therefore laboratory tests are necessary. New advances in molecular pathogenesis of this disease led researchers to develop a diagnostic test based on Western blot for FANCD2. The objective of the present study was to determine the efficacy of this method for the diagnosis of 84 Brazilian patients with Fanconi anemia, all of whom tested positive for the diepoxybutane test, and 98 healthy controls. The FANCD2 monoubiquitinated isoform (FANCDS+/FANCD2L-) was not detected in 77... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Fanconi anemia; FANCD2 Western blot; Diepoxybutane test; Monoubiquitination; Immunoblotting. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000300004 |
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| de-Medeiros,B.C.; Strapasson,E.; Pasquini,R.; de-Medeiros,C.R.. |
| Thirty-seven patients with acute promyelocytic leukemia (APL) were treated with all-trans retinoic acid (ATRA). Patients received 45 mg m-2 day-1 po of ATRA until complete remission (CR) was achieved, defined as: a) presence of less than 5% blasts in the bone marrow, with b) white blood cells >103/mm3, c) platelets >105/mm3 and d) hemoglobin concentration >8 g/dl, with no blood or platelet transfusions. Thirty-one (83.7%) patients achieved CR by day 50, and 75% of these before day 30. Correction of the coagulopathy, achieved between days 2 and 10 (mean, 3 days), was the first evidence of response to treatment. Only one patient had been previously treated with chemotherapy and three had the microgranular variant M3 form. Dryness of skin and mucosae... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: All-trans retinoic acid; Acute promyelocytic leukemia; Retinoid acid syndrome. |
| Ano: 1998 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998001200005 |
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| Medeiros,C.R. de; Bitencourt,M.A.; Zanis-Neto,J.; Maluf,E.C.P.; Carvalho,D.S.; Bonfim,C.S.; Funke,V.M.; Setubal,D.C.; Farah,N.; Pasquini,R.. |
| We transplanted 47 patients with Fanconi anemia using an alternative source of hematopoietic cells. The patients were assigned to the following groups: group 1, unrelated bone marrow (N = 15); group 2, unrelated cord blood (N = 17), and group 3, related non-sibling bone marrow (N = 15). Twenty-four patients (51%) had complete engraftment, which was not influenced by gender (P = 0.87), age (P = 0.45), dose of cyclophosphamide (P = 0.80), nucleated cell dose infused (P = 0.60), or use of anti-T serotherapy (P = 0.20). Favorable factors for superior engraftment were full HLA compatibility (independent of the source of cells; P = 0.007) and use of a fludarabine-based conditioning regimen (P = 0.046). Unfavorable factors were > or = 25 transfusions... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Fanconi anemia; Transplant in Fanconi anemia; Alternative donors; Allogeneic hematopoietic stem cell transplantation in Fanconi anemia; Alternative stem cell source. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006001000005 |
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| de-Medeiros,C.R.; Ribeiro,R.C.; Bittencourt,M.A.; Zanis-Neto,J.; Pasquini,R.. |
| Severe aplastic anemia (SAA) is probably an immune-mediated disorder, and immunosuppressive therapy is recommended for patients with no available donor for bone marrow transplant. Between October 1984 and November 1987, 25 consecutive children and adolescents with SAA with no HLA-compatible marrow donor received equine antithymocyte globulin (ATG) (15 mg kg-1 day-1) for 10 days. The patients were evaluated 6 weeks, 6 months, and 12 months after starting ATG treatment. Thereafter, patients were evaluated yearly until July 1998. Median age was 10 years (range, 1.5-20 years), granulocyte counts on referral ranged from 0.032 to 1.4 x 10(9)/l (median 0.256 x 10(9)/l), and 12 patients had granulocyte counts <0.2 x 10(9)/l. At a median follow-up of 9.6... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Aplastic anemia; Children; Adolescents; Antithymocyte globulin. |
| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000000500010 |
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| Ribeiro,E.M.S.F.; Rodriguez,J.M.; Cóser,V.M.; Sotero,M.G.; Fonseca Neto,J.M.; Pasquini,R.; Cavalli,I.J.. |
| Microsatellites are short tandem repeat sequences dispersed throughout the genome. Their instability at multiple genetic loci may result from mismatch repair errors and it occurs in hereditary nonpolyposis colorectal cancer. This instability is also found in many sporadic cancers. In order to evaluate the importance of this process in myeloid leukemias, we studied five loci in different chromosomes of 43 patients, 22 with chronic myelocytic leukemia (CML) in the chronic phase, 7 with CML in blast crisis, and 14 with acute myeloid leukemia (AML), by comparing leukemic DNA extracted from bone marrow and constitutional DNA obtained from buccal epithelial cells. Only one of the 43 patients (2.1%), with relapsed AML, showed an alteration in the allele length at... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Genomic instability; Mismatch repair errors; Cytogenetics; Leukemogenesis. |
| Ano: 2002 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000200003 |
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