Abstract BACKGROUND: Hereditary Hemochromatosis(HH) is a common genetic disorder of iron overload where the large majority of patients are homozygous for one ancestral mutation in the HFE gene. In spite of this remarkable genetic homogeneity, the condition is clinically heterogeneous, varying from a severe disease to an asymptomatic phenotype with only abnormal biochemical parameters. The recent recognition of ...
Abstract BACKGROUND: It has been recently demonstrated that CD8+ T-lymphocyte numbers are genetically transmitted in association with the MHC class I region. The present study was designed with the objective of narrowing the region associated with the setting of CD8+ T-lymphocyte numbers in a population of C282Y homozygous hemochromatosis subjects, in whom a high prevalence of abnormally low CD8+ T-lymphocyte c...
Blood Cells Mol Dis. 2005 Nov-Dec;35(3):319-25. Epub 2005 Sep 1. Low serum transferrin levels in HFE C282Y homozygous subjects are associated with low CD8(+) T lymphocyte numbers. Macedo MF, Cruz E, Lacerda R, Porto G, de Sousa M. SourceDivision of Human Genetics and Genetic Disorders, Iron Genes and the Immune System Laboratory, Institute for Molecular and Cell Biology (IBMC), Oporto, Portugal. Abstract Hered...
Clin Endocrinol (Oxf). 2004 Oct;61(4):437-40. Growth hormone (GH)-induced reconstitution of CD8+ CD28+ T lymphocytes in a rare case of severe lymphopenia associated with Juvenile Haemochromatosis and Turner's syndrome. Porto G, Cruz E, Miranda HP, Porto B, Vasconcelos JC, Lacerda R, Roetto A, Daraio F, Bacelar C. Santo António General Hospital, Porto, Portugal. gporto@ibmc.up.pt Abstract This paper describes...
The hardness and stress of amorphous carbon films prepared by glow discharge and by ion beam assisting deposition are investigated. Relatively hard and almost stress free amorphous carbon films were deposited by the glow discharge technique. On the other hand, by using the ion beam assisting deposition, hard films were also obtained with a stress of the same order of those found in tetrahedral amorphous carbon ...
Blood Cells Mol Dis. 1999 Apr;25(2):130-8. T cell numbers relate to bone involvement in Gaucher disease. Lacerda L, Arosa FA, Lacerda R, Cabeda J, Porto G, Amaral O, Fortuna A, Pinto R, Oliveira P, McLaren CE, Sá Miranda C, de Sousa M. Department of Genetics Neurobiology, Porto University, Portugal. Abstract The major elements of bone pathology in Gaucher disease are a failure of osteoclast and osteoblast fu...
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