HEM- Artigos
Permanent URI for this collection
Browse
Browsing HEM- Artigos by Issue Date
Now showing 1 - 10 of 32
Results Per Page
Sort Options
- Cintigrafia osteoarticular com polifosfato de 99mTc em doentes com mieloma múltiploPublication . Plácido, F; Pereira, ML; Pedroso de Lima, J; Tavares, JF; Branco, JR
- Severe acute liver failure as the initial manifestation of haematological malignancy.Publication . Souto, P; Romãozinho, JM; Figueiredo, P; Sousa, I; Camacho, E; Donato, A; Freitas, DAcute liver failure is rarely secondary to lymphoma or leukaemia and it is extremely uncommon as the initial presentation of malignancy. We report a case of a young adult patient with severe acute liver failure referred for liver transplant, in which a Burkitt acute lymphoblastic leukaemia was diagnosed by bone marrow examination. A complete recovery and long remission were obtained with chemotherapy.
- Genetic polymorphism of CYP2D6, GSTM1 and NAT2 and susceptibility to haematological neoplasiasPublication . Lemos, MC; Cabrita, FJ; Silva, HA; Vivan, M; Plácido, F; Regateiro, FJXenobiotic-metabolizing enzymes constitute an important line of defence against a variety of carcinogens. Many are polymorphic, constituting the basis for the wide inter-individual variation in metabolic capacity and possibly a source of variation in the susceptibility to chemical-induced carcinogenesis. The aim of this study was to determine the existence of any association between the main genetic polymorphisms of cytochrome P450 2D6 (CYP2D6), glutathione S-transferase M1 (GSTM1) and N-acetyltransferase 2 (NAT2) and an altered risk for haematological neoplasias. A total of 160 patients and 128 controls were genotyped by means of PCR-RFLP-based assays. Mutated alleles comprising CYP2D6*4, GSTM1*0, NAT2*5A, *5B, *5C, *6 and *7 were analysed along with the wild-type alleles. The results showed a higher frequency of CYP2D6 extensive metabolizers carrying two functional alleles in the leukaemia group, when compared with controls (76.6 versus 57.0%, P = 0.008). No differences were found in the case of Hodgkin and non-Hodgkin lymphomas. Analysis of the GSTM1 and NAT2 polymorphisms failed to show an association with any of the neoplasias, although a near significant increase in fast acetylators was also found in the leukaemia group (50.0 versus 35.9%, P = 0.06). The results suggest an association of extensive metabolism with an increased risk for leukaemia, possibly by an increase in the metabolic activation of chemical carcinogens or linkage to another cancer-causing gene. Opposite findings presented in other studies may reflect geographical differences in the type of environmental carcinogens to which different populations are exposed.
- Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3Publication . Ribeiro, ML; Alliosio, N; Almeida, H; Gomes, C; Texier, P; Lemos, C; Mimoso, G; Morlé, L; Bey-Cabet, F; Rudigoz, RC; Delaunay, J; Tamagnini, GAbsence of band 3, associated with the mutation Coimbra (V488M) in the homozygous state, caused severe hereditary spherocytosis in a young child. Although prenatal testing was made available to the parents, it was declined. Because the fetus stopped moving near term, an emergency cesarean section was performed and a severely anemic, hydropic female baby was delivered. She was resuscitated and initially kept alive with respiratory assistance and hypertransfusion therapy. Cord blood smears revealed erythroblastosis, poikilocytosis, and red cells with stalk-like elongations. Band 3 and protein 4.2 were absent; spectrin, ankyrin, and glycophorin A were significantly reduced. Renal tubular acidosis was detected by the age of 3 months. Nephrocalcinosis appeared soon thereafter. After 3 years of follow-up the child is doing reasonably well on a regimen that includes regular blood transfusions and daily bicarbonate supplements. The long-term prognosis remains uncertain given the potential for hematologic and renal complications.
- Síndroma de Sweet associado a doença mieloproliferativaPublication . Coelho, S; Gonçalo, Margarida; Cortesão, E; Leitão, S; Figueiredo, A
- Evaluation of Apoptotic Molecular Markers in Myelodysplastic Syndrome PatientsPublication . Cortesão, E; Gonçalves, AC; Sousa, I; Moucho, C; Rito, L; Espadana, AI; Magalhães, E; Pereira, AM; Teixeira, A; Nascimento-Costa, JM; Sarmento, AB
- Uso De Factores De Crescimento De Granulócitos: Recomendações da Sociedade Portuguesa de HematologiaPublication . Forjaz de Lacerda, J; Leal da Costa, F; Pereira, AM; Principe, F; Teixeira, A; Parreira, AThe administration of cytotoxic chemotherapy may be complicated by the emergence of neutropenia and febrile neutropenia, frequently determining hospital admission and intravenous treatment with broad spectrum antibiotics. Frequently, it is necessary to reduce the dose or to delay the administration of the cytotoxic drugs reducing the relative dose intensity of the chemotherapy regimen. Granulocyte growth factors stimulate the proliferation and differentiation of neutrophils and reduce the number of days of severe neutropenia and febrile neutropenia associated with cytotoxic chemotherapy. They are also indicated for the collection of hematopoietic progenitors for autologous and allogeneic transplantation, as well as in non malignant diseases associated with chronic neutropenia. This article reviews the evidence supporting the use of granulocyte growth factors in Hematology.
- Linfoma difuso de grandes células em doente com lúpus eritematoso sistémicoPublication . Duarte, C; Couto, M; Inês, L; Silva, J; Sousa, I; Malcata, ABThe authors present the case of a 44-year-old female patient with Systemic Lupus Erythematosus diagnosed 4 years earlier. She presented with constitutional symptoms and back pain and one month later a diagnosis of Non Hodgkin Lymphoma was established (subtype Diffuse Large B Cells Lymphoma). The risk of malignancy associated to SLE is discussed.
- Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older womanPublication . Manco, L; Pereira, J; Relvas, L; Rebelo, U; Crisóstomo, AI; Bento, C; Ribeiro, MLGlucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked disorder, is usually observed in hemizygote males and very rarely in females. The G6PD class 1 variants, very uncommon, are associated with chronic hemolytic anemia. Here we report a Portuguese woman who suffered in her sixties from a chronic hemolytic anemia due to G6PD deficiency. Molecular studies revealed heterozygosity for an in-frame 18-bp deletion, mapping to exon 10 leading to a deletion of 6 residues, 362-367 (LNERKA), which is a novel G6PD class 1 variant, G6PD Tondela. Two of her three daughters, asymptomatic, with G6PD activity within the normal range, are heterozygous for the same deletion. The patient's leukocyte and reticulocyte mRNA studies revealed an almost exclusive expression of the mutant allele, explaining the chronic hemolytic anemia. Patient whole blood genomic DNA HUMARA assay showed a balanced pattern of X chromosome inactivation (XCI), but granulocyte DNA showed extensive skewing, harboring the mutated allele, implying that in whole blood, lymphocyte DNA, with a very long lifetime, may cover up the current high XCI skewing. This observation indicates that HUMARA assay in women should be assessed in granulocytes and not in total leukocytes.
- Severe intracranial haemorrhage in neonatal alloimmune thrombocytopeniaPublication . Silva, F; Morais, S; Sevivas, T; Veiga, R; Salvado, R; Taborda, ANeonatal alloimmune thrombocytopenia is a rare (1/1000-5000 births) life-threatening disorder, caused by fetomaternal incompatibility for a fetal human platelet alloantigen inherited from the father, with production of maternal alloantibodies against fetal platelets, leading to severe thrombocytopenia and potential bleeding. Intracranial haemorrhage is the most feared complication. This report presents the case of a term newborn infant, born from caesarean section after a normal pregnancy, presenting signs of skin bleeding with different ages. Obstetric history included a previous spontaneous abortion after amniocentesis. Severe thrombocytopenia (4×10(9)/l platelets) was found and brain ultrasound showed multiple intracranial haemorrhages. Human platelet antigen (HPA) phenotyping showed maternal negative HPA-1a and paternal positive HPA-1a platelets. Strongly positive anti-HPA-1a and weakly positive anti-human leukocyte antigen class I alloantibodies were found in the mother. Multiple platelet transfusions, intravenous immunoglobulin and corticosteroid were given but favourable response was accomplished only after a compatible platelet transfusion. Brain MRI showed multiple subacute and chronic haemorrhages.