Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 3 de 3
Filtrar
Adicionar filtros








Tipo de estudo
Intervalo de ano
1.
Hematol., Transfus. Cell Ther. (Impr.) ; 40(1): 5-11, Jan.-Mar. 2018. tab, ilus
Artigo em Inglês | LILACS | ID: biblio-953798

RESUMO

Abstract Background: Pyruvate kinase deficiency is a hereditary disease that affects the glycolytic pathway of the red blood cell, causing nonspherocytic hemolytic anemia. The disease is transmitted as an autosomal recessive trait and shows a marked variability in clinical expression. This study reports on the molecular characterization of ten Brazilian pyruvate kinase-deficient patients and the genotype-phenotype correlations. Method: Sanger sequencing and in silico analysis were carried out to identify and characterize the genetic mutations. A non-affected group of Brazilian individuals were also screened for the most commonly reported variants (c.1456C>T and c.1529G>A). Results: Ten different variants were identified in the PKLR gene, of which three are reported here for the first time: p.Leu61Gln, p.Ala137Val and p.Ala428Thr. All the three missense variants involve conserved amino acids, providing a rationale for the observed enzyme deficiency. The allelic frequency of c.1456C>T was 0.1% and the 1529G>A variant was not found. Conclusion: This is the first comprehensive report on molecular characterization of pyruvate kinase deficiency from South America. The results allowed us to correlate the severity of the clinical phenotype with the identified variants.


Assuntos
Humanos , Masculino , Feminino , Piruvato Quinase/deficiência , Eritrócitos , Anemia Hemolítica , Mutação
2.
Artigo em Inglês | IMSEAR | ID: sea-140157

RESUMO

Hydroxyurea (HU) is an antimetabolic agent commonly used in myeloproliferative disorders and hematological diseases as well as in severe psoriasis. Despite of usually be well tolerated, sometimes it can induce immunosuppression and mucocutaneous adverse effects associated with discomfort or pain. Nevertheless, oral mucosal adverse reactions are extremely uncommon and present as ulcers, tongue depapilation and dyschromia. Complete remission of adverse effects is usually observed after withdrawal of the medication. The aim of this paper is to report two patients with oral lesions related to HU treatment. T0 he patients were adequately managed by changing hydroxyurea with imatinib mesilate. Oral lesions are rare complications of long-term hydroxyurea treatment and may be an indication of stopping therapy and substitution with imatinib mesilate.


Assuntos
Adolescente , Adulto , Antineoplásicos/efeitos adversos , Doenças da Gengiva/induzido quimicamente , Humanos , Hidroxiureia/efeitos adversos , Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico , Doenças Labiais/induzido quimicamente , Masculino , Doenças da Boca/induzido quimicamente , Soalho Bucal/efeitos dos fármacos , Mucosa Bucal/efeitos dos fármacos , Úlceras Orais/induzido quimicamente , Piperazinas/uso terapêutico , Pirimidinas/uso terapêutico , Doenças da Língua/induzido quimicamente
3.
Rev. Col. Bras. Cir ; 30(5): 382-387, set.-out. 2003. tab
Artigo em Português | LILACS | ID: lil-513419

RESUMO

Objetivo: Relatar a experiência inicial do Centro Infantil Boldrini com a esplenectomia laparoscópica (EL) em crianças e adultos jovens. Método: Foram revisados os prontuários de 40 pacientes (mediana da idade de 6,6 anos; 1 a 22,8) submetidos à EL entre Julho de 2000 e Maio de 2002. As principais indicações de acordo com a doença de base foram: doença falciforme (DF) em 20 pacientes (50%), esferocitose hereditária em 10(25 %), púrpura trombocitopência idiopática em oito (20 %), doença de Hodgkin em um e anemia hemolíticaa esclarecer em um. Resultados: Trinta e oito esplenectomias foram completadas por via laparoscópica (duas conversões) e em doze foi realizada adicionalmente a colecistectomia. A mediana do tempo operatório foi de 127,5 minutos (90 – 240 min) e sete (17,5 %) baços acessórios foram encontrados. Sangramento intra-operatório foi significativo apenas nas duas conversões, mas não houve necessidade de transfusões. A mediana do peso dos baços foi de 250 g (106 – 1000; n=36). Complicações pós-operatórias ocorreram em sete (17,5 %) pacientes e, nos portadores de DF, 35% desenvolveram síndrome torácica aguda. A mediana da permanência hospitalar pós-operatória foi de dois dias (2 - 14). O seguimento variou de 23 dias a dois anos (mediana de 11 meses). Conclusões: A EL pode ser realizada de modo seguro mesmo em baços de grande tamanho e é opçãoatrativa que pode substituir o procedimento aberto. Em pacientes com DF, a taxa de complicações permanecealta, sugerindo mecanismos outros que vão além da escolha da via de acesso cirúrgica.


Background: Laparoscopic splenectomy (LS) is becoming the procedure of choice in the treatment of children with hematological disorders. However, concerns remains regarding conversion rates, dissection and extraction of the spleen. The authors analyze their early experience at Boldrini’s Children CancerCenter – Brazil in 40 LS performed in children and young adults. Methods: Retrospective review of the charts of 40 patients (median age of 6.6 years; range 1 to 22.8) who underwent LS, between July/ 2000 and May/ 2002. The main indications were sickle cell disease (SCD) (20 - 50 %), hereditary spherocytosis (10 - 25 %) and idiopathic thrombocytopenic purpura (8 - 20 %). Results: All but two splenectomies were performed exclusively by laparoscopy, and 12 patients also underwent a concomitant cholecystectomy. The mean operating time was 127.5 minutes (90 – 240m). In seven patients (17.5%) accessory spleens were found and removed. Intraoperative bleeding was significant only in the two cases that required conversion to an open procedure, although no transfusion was needed. The median weight of the spleen was 250 g (range 106g – 1000g; n=36). Complications were observed in seven patients (17.5 %) with SCD that developed acute chest syndrome. There were no deaths in this series and the median postoperative stay at the hospital was two days (2 - 14). Follow-up ranged from 23 days to two years. Conclusions: On the basis of our experience, LS is a safe procedure, even to treat large spleens and became an attractive option that might replace the open procedure. In SCD patients, the rate of complications remains high, suggesting mechanisms other than the scope of the choice of surgical approach.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA