A new 500 kb haplotype associated with high CD8+ T-lymphocyte numbers predicts a less severe expression of hereditary hemochromatosis.

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 the variable penetrance of the HH mutation in different large population studies demands the need to search for new modifiers of its phenotypic expression.

[The importance of diffusing capacity as a complementary study to plethysmography in smokers].

Unlabelled: This study comprised 194 male and female heavy smokers or ex-smokers (>or= 1 pack-year) aged between 20 and 82, whose symptoms varied. Cases were only selected from patients with normal whole-body plethysmography. Subjects with any significant pathology and occupational risk factors were excluded from the study.

HTLV-I associated myelopathy in Salvador (northeastern Brazil).

Recent studies of tropical spastic paraparesis have confirmed the existence of human T-cell leukemia virus type-1 (HTLV-I) in several tropical areas of the world. In order to determine the role of HTLV-I as an etiologic agent of myelopathies in Salvador, we conducted a clinical and serological study in 43 patients with non-traumatic and non-tumoral myelopathies. We found 9 patients with HTLV-I associated myelopathy (HAM) which points to a new endemic area of HAM.