Intra-familial transmission of hepatitis B virus in Italy: phylogenetic sequence analysis and amino-acid variation of the core gene.

Background/aims: Transmission of hepatitis B virus (HBV) in countries of intermediate endemicity, such as Italy, is thought to be primarily horizontal and, to a lesser extent, vertical. Most chronic carriers therefore become infected in infancy or at a very young age. The index cases in such events have been assumed to come from within the family unit or from sources outside the immediate family, with whom the affected person is in close contact.

HLA and hormonal studies in 5 patients with late-onset 21-hydroxylase deficiency syndrome (21OHDS).

Late-onset 21-hydroxylase deficiency (21OHD) presents biochemical evidence of 21OHD and virilization in peri-or postpubertal age; it has been demonstrated that late-onset 21OHD is linked to HLA system. We present the HLA typing, the baseline and the ACTH-stimulated hormonal levels in 5 patients with late-onset 21OHD and in their family members. We identified 3 HLA identical male sibs within their respective families, 2 sibs sharing one haplotype with the affected member and 2 homozygous normal sibs.

A family study of ankylosing spondylitis.

Clinical, radiological and scintigraphic studies and HLA type assessment were performed in 38 subjects, constituting all the first-degree members of three generations of the families of six patients affected with ankylosing spondylitis (AS). The families included both parents, all siblings and all children of the probands. Definite AS was found in three men and possible AS in another.

Family occurrence and hla system in tumoral calcinosis.

A 35-year-old patient, from a ten sibling family, was eight years old at the first presentation of tumoral calcinosis. Since then, in spite of several surgical excisions, the masses have increased in number and size are to be found in various para-articular areas. One brother and one sister of the patient, of 39 and 45 years respectively, had also had tumoral calcinosis, but recovered completely, on surgical removal of the masses.

[Antibody response to histocompatibility antigens in hemodialysis patients subjected to planned whole-blood transfusions].

In hemodialysis patients planned whole blood transfusions from single donors, induce the formation of anti HLA A, B, C and DR cytotoxic antibodies. The percentage of immunization, however, is lower than that observed in healthy subjects immunized following a similar transfusional schedule. This observation may reflect the existence in some patients of an impairment of the immune response to histocompatibility antigens.