The prevalence rates of mixed cryoglobulinaemia, sicca complex, positive thyroid autoantibodies, antinuclear antibody, rheumatoid factor, and antimitochondrial antibody in PCR positive women were 12.7%, 7.6%, 13.9%, 5.1%, 3.8%, and 3.8%. Conclusions-A benign course of HCV infection with lack of disease progression was observed in women with chronic HCV, 22 years after inoculation. Acute icteric hepatitis and the HLA DRB1*01 allele were associated with viral clearance. Despite this favourable outcome, high levels of psychological distress and poor quality of life were present. (Gut 2001;49:423-430)

Cytokines play a key role in the regulation of immune responses. In hepatitis C virus infection (HCV), the production of inappropriate cytokine levels appears to contribute to viral persistence and to affect response to therapy. Cytokine genes are polymorphic at specific sites, and certain mutations located within coding/regulatory regions have been shown to affect the overall expression and secretion of cytokines. The aim of this study was to investigate the frequency of genotypes associated with polymorphisms of TNF-alpha, TGF-beta, IL-10, IL-6, and IFN-gamma and to determine their association with the outcome of HCV infection. Genotyping was carried out by polymerase chain reaction sequence-specific primers on genomic DNA isolated from 158 individuals. Of these, 66 had spontaneously recovered from infection (persistently HCV RNA negative), while 92 had persistent infection (persistently HCV RNA positive). All patients were genotyped as high or low producers of TNF-alpha and IL-6 and high, intermediate, or low producers of TGF-beta, IL-10, and IFN-gamma based on single nucleotide substitutions. A significant proportion of patients with viral clearance were genotyped with a low IL-6 production profile, whereas those with persistent infection were genotyped with a high production profile (P = 0.02). No associations were observed between polymorphisms of TNF-alpha, IL-10, or IFN-gamma and viral clearance or persistent infection. Furthermore, there were no associations between cytokine genotypes and severity of disease. Inheritance of some genotypes associated with polymorphisms of cytokine genes, such as IL-6, may be host genetic factors associated with outcome of HCV in a well-defined ethnically homogeneous cohort.

No abstract

In populations of northern European ancestry, hereditary hemochromatosis (HH) is tightly linked to mutations within the hemochromatosis gene (HFE gene). Over 93% of Irish HH patients are homozygous for the HFE gene C282Y mutation, providing a reliable diagnostic marker of the disease in this population. However, the prevalence of the C282Y mutation and that of the second HFE gene mutation, H63D, have yet to be determined within the Irish population. The objective of this study was to identify the true prevalence of the genetic form of HH in the Irish population. DNA was extracted from 1002 randomly selected newborn screening cards and analyzed for the C282Y and H63D mutations within the HFE gene. Complete results were obtained from 800 cards. Mutations were identified in 364 (46%) neonates. Eight (1%) neonates were homozygous for C282Y and 8 (1%) were homozygous for H63D. One hundred and fifty-five (19%) neonates were C282Y heterozygous and 226 (28%) were H63D heterozygous. Of these, 33 (4%) carried one copy of both C282Y and H63D mutations, i.e., compound heterozygous. Allele frequencies for C282Y and H63D were 11% and 15%, respectively. The high C282Y allele frequency in the Irish population together with its close linkage to HH indicate that C282Y genotyping is the preferred screening strategy for this disease in Ireland.

A numerical phenotypic taxonomic study of 315 strains of Neisseria and some allied bacteria examined for 155 phenotypic tests showed 31 groups, most of which were reasonably distinct. These fell into four major areas. Areas A, B and C contained species of Neisseria, whereas area D contained the organisms known as 'false neisserias' together with Branhamella, Moraxella and Kingella species. Area A contained N. gonorrhoeae (which showed two subgroups), N. meningitidis (with two subgroups, and N. cinerea closely associated), N. polysaccharea, N. elongata subsp. glycolytica and N. lactamica. Area B contained mainly organisms from the human nasopharynx, and the nine groups were not very distinct: only three, N. mucosa, N. perflava and N. sicca could be recognized by the presence of type strains, and there was little relationship between taxonomic position and species epithets. Area C contained several groups from animals, N. animalis, N. canis and two phenons that may be justified as new species of Neisseria, one from lizards and the other from dental plaque of herbivores. Area C also contained N. elongata, N. subflava (with N. flavescens), type strain of Morococcus cerebrosis and the CDC groups M-5 (N. weaverfi and EF-4. Area D contained Branhamella catarrhah, a combined group which consists of strains of the 'false neisserias' N. caviae and N. cuniculi, the 'false neisseria' N. ovis, and a group of Moraxella strains. A small group representing Kingella kingae is included in area D. Mean test error was 1.7%.