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| Ribeiro,R.C.; Michalkiewicz,E.L.; Figueiredo,B.C.; DeLacerda,L.; Sandrini,F.; Pianovsky,M.D.; Sampaio,G.; Sandrini,R.. |
| Childhood adrenocortical tumors (ACT) are rare. In the USA, only about 25 new cases occur each year. In Southern Brazil, however, approximately 10 times that many cases are diagnosed each year. Most cases occur in the contiguous states of São Paulo and Paraná. The cause of this higher rate has not been identified. Familial genetic predisposition to cancer (p53 mutations) and selected genetic syndromes (Beckwith-Wiedemann syndrome) have been associated with childhood ACT in general but not with the Brazilian counterpart. Most of the affected children are young girls with classic endocrine syndromes (virilizing and/or Cushing). Levels of urinary 17-ketosteroids and plasma dehydroepiandrosterone sulfate (DHEA-S), which are abnormal in approximately 90% of the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Adrenocortical adenoma; Adrenocortical carcinoma; Adrenal gland disorders; Pediatric cancers; Childhood adrenocortical tumors. |
| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000001000013 |
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| Figueiredo,B.C.; Ribeiro,R.C.; Zambetti,G.; Haddad,B.; Pianovsky,M.D.; Pereira,R.M.; DeLacerda,L.; Sandrini,R.. |
| Adrenocortical tumors (ACT) in children under 15 years of age exhibit some clinical and biological features distinct from ACT in adults. Cell proliferation, hypertrophy and cell death in adrenal cortex during the last months of gestation and the immediate postnatal period seem to be critical for the origin of ACT in children. Studies with large numbers of patients with childhood ACT have indicated a median age at diagnosis of about 4 years. In our institution, the median age was 3 years and 5 months, while the median age for first signs and symptoms was 2 years and 5 months (N = 72). Using the comparative genomic hybridization technique, we have reported a high frequency of 9q34 amplification in adenomas and carcinomas. This finding has been confirmed more... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Adrenocortical carcinoma; Cancer; Mutation; 9q34 amplification. |
| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000001000012 |
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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,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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