HLA-A*2402 and a microsatellite (D6S248) are secondary independent susceptibility markers to ankylosing spondylitis in Basque patients.

Ankylosing spondylitis (AS) is universally associated with human leukocyte antigen B27 (HLA-B27), although other genes could determine the development and clinical expression of the disease. HLA-A9 (A*2402) allele was previously found to be associated in Basque patients. The objective of this study is to perform a more precise analysis of microsatellite polymorphisms in HLA-A*2402 and B27 haplotypes to elucidate the significance of this association. A group of 50 unrelated AS patients and 113 controls of Basque origin were studied. Eight microsatellites in the class I major histocompatibility complex region with vicinity to HLA-A and -B were analyzed and the strength of allelic associations to AS and linkage disequilibrium (LD) between alleles were evaluated. Allele 15 at the microsatellite locus D6S248, 1000 Kb telomeric to HLA-A showed a strong positive association with the disease (OR:6; pc=4.7x10(-4)) and it could not be explained by LD to HLA-B27, HLA-A*2402 or any other loci. We found that D6S248-15 allele together with HLA-A*2402 could be B27-independent markers of additional susceptibility gene/s localised in the region telomeric to HLA-A in Basque AS patients.

HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls.

C282Y/C282Y genotype is the prevalent genotype in Hereditary Haemochromatosis (HH), however, other genotypes have been associated with the disease. The objective of our study was to analyse the frequency of the three main mutations of HFE gene in HH patients and controls from the Basque population with differential genetic characteristics. Thirty five HH patients and 116 controls were screened for C282Y, H63D and S65C mutations using a PCR-RFLP technique. The association of HLA-A and-B alleles and HFE mutations was also studied in Basque controls. The frequency of C282Y homozygotes in the group of patients was only 57%. The rest of the patients presented heterogeneous genotypes, including compound heterozygotes: 11% of them were C282Y/H63D; and 2.85% were H63D/S65C. H63D or S65C heterozygotes had a frequency of 11% and 2.85 respectively and 5.71% patients lacked any mutation The high frequency of H63D in the healthy Basque population is confirmed in this study. A considerable incidence of S65C is observed either in controls and in HH (3%) or in iron overloaded patients. The peculiar genetic characteristics of Basques could explain the heterogeneity of genotypes in HH patients of this group. Further studies should be carried out to confirm these findings although the implication of other genetic or external factors in the development of HH is suggested.

HLA-A*9, a probable secondary susceptibility marker to ankylosing spondylitis in Basque patients.

HLA-B27 is strongly associated to ankylosing spondylitis (AS). The objective of our study was to analyze HLA-B27 association, B27 subtype distribution and frequency of other HLA class I and DR antigens in a group of Basque AS patients. HLA class I antigens were typed serologically and HLA-B27 and A9 subtypes were determined by DNA typing in samples from 46 patients with AS, 54 B27-positive spondyloarthropathies, 82 healthy subjects and 20 B27-positive controls. A class I HLA 9.2 kb PvuII restriction fragment length polymorphism (RFLP), previously associated with AS, was analyzed in a representative group of patients and controls. We found that HLA-B*2705 conferred a relative risk of 126 for AS in this group. HLA-A9 (A*2402) allele was significantly increased in AS patients compared with healthy controls and B27-positive control group (Pcorr<0.0001) and also increased in patients affected with peripheral arthritis. No association between class I HLA 9.2 Kb RFLP and AS was found. These results suggest that HLA-A*9 allele itself or another linked gene could act as a secondary and independent susceptibility allele to AS.

Rapid Detection of Salmonellae in Foods Using Immunoassay Systems.

A standard cultural method, radioimmunometric (RIMA) and enzyme immunometric (EIMA) assays were compared for detection of salmonellae in 235 food samples. The immunoassays used titanous hydroxide as the solid-phase, commercial Spicer-Edwards salmonella polyvalent H antisera (SEA) or pooled antisera produced against 10 salmonella flagellins (PFA). Nineteen food samples were positive for Salmonella by the standard cultural method. These as well as one additional sample were also positive for Salmonella by RIMA and EIMA. No false-negative results were obtained from the immunoassays using PFA, whereas two false-negative results were observed when SEA was used. The incidence of false-positive results when SEA and PFA were used were, respectively, 3.0 and 0.9% with RIMA and 2.6 and 0.9% with EIMA. The immunoassays were also able to detect 77 Salmonella serotypes when grown alone or in association with other species of Enterobacteriaceae , in mannitol selenite cystine broth. Both immunoassays performed reliably on enrichment cultures stored under refrigeration for up to 9 d. Also, of 6 non-motile salmonellae, 5 were detectable by the immunoassays. The immunoassays were simple, rapid and cost-efficient.

Cancer gastrico temprano multiple simultaneo: informe de un caso. / Multiple simultaneous early gastric cancer: case report

En el examen de estomago, la combinacion de rayos X y endoscopia, incrementan la exactitud diagnostica de la patologia gastrica, principalmente la referente a cancer gastrico temprano multiple simultaneo.Es muy importante tener en mente la probabilidad de coexistencia de multiples lesiones malignas, ya que es necesario planear cuidadosamente la cirugia gastrica oncologica y determinar el limite de reseccion a efectuar