HLA-B*4904, a new allele identified in two unrelated individuals from the same Italian region.
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Biomedical subjects
Publications and source records attributed to A Iliescu.
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We report here the identification of a novel DRB1*11 allele, DRB1*1144, identified during sequence-based HLA-DRB1 typing. Molecular cloning and direct sequencing confirmed that the new allele is identical to DRB1*110401 at exon 2, except for a single nucleotide substitution (GTG-->GCG) changing codon 38 from Valine to Alanine.
In order to determine the influence of HA-1 minor histocompatibility antigen mismatch on BMT outcome, we analyzed a pool of 94 thalassemic transplanted patients all selected for the presence of HLA-A(*)0201 allele. The HA-1 typing was performed using SSP analysis. All the patients received bone marrow from HLA-identical MLC nonresponsive siblings. As graft-versus-host-disease (GVHD) prophylaxis, all patients received cyclosporin and short methotrexate. Grades II-IV GVHD occurred in five (33.3%) of the 15 patients with recipient HA-1 disparity compared with 14 (17.7%) of the 79 patients without HA-1 disparity. Despite the higher incidence of acute graft-versus-host-disease (aGVHD) in the group of patients with HA-1 incompatibility, these data were not statistically significant. However, it was interesting to observe that no GVHD developed in any of the 15 cases in which the recipient was HA-1 negative and the donor HA-1 positive.
In this paper we report the identification of a new HLA-A*02 allele in two members of an Afghan family. This novel allele, designed as A*02202, differs from A*02201 by a silent substitution at codon 66 (AAC-->AAT) in the alpha1 domain. A*02202 appears to be the result of a novel mutation (Note).
Beta-thalassemia major is characterized by ineffective erythropoiesis leading to severe anemia and extensive erythroid expansion. The ineffective erythropoiesis is in part due to accelerated apoptosis of the thalassemic erythroid precursors; however, the extent of apoptosis is surprisingly variable. To understand this variability as well as the fact that some patients undergoing allogeneic marrow transplantation are resistant to the myeloablative program, we attempted more quantitative analyses. Two groups of patients totaling 44 were studied, along with 25 healthy controls, and 7 patients with hemolysis and/or ineffective erythropoeisis. By 2 flow cytometric methods, thalassemic erythroid precursors underwent apoptosis at a rate that was 3 to 4 times normal. Because thalassemic marrow has between 5- to 6-fold more erythroid precursors than healthy marrow, this translated into an absolute increase in erythroid precursor apoptosis of about 15-fold above our healthy controls. In searching for the causes of the variability in thalassemic erythroid precursor apoptosis, we discovered tight direct correlations between the relative and absolute extent of apoptosis and the extent of erythroid expansion as measured either by the absolute number of marrow erythroid precursors or by serum soluble transferrin receptor levels. These results could mean that the most extreme rates of erythroid proliferation lend themselves to cellular errors that turn on apoptotic programs. Alternatively, extreme rates of erythroid hyperplasia and apoptosis might be characteristic of more severely affected patients. Lastly, extreme erythroid hyperplasia could generate such numbers of apoptotic erythroid precursors that marrow macrophages are overwhelmed, leaving more apoptotic cells in the sample.
A DRB1*1503 allele not associated with DRB5 locus has been detected in an African family during routine HLA typing for bone marrow transplantation. PCR/SSOP analysis showed the DR2-associated alleles in all the family members but the DRB5 locus appeared to be absent in the patient and his brother. The samples were then analyzed for the presence of DRB6 pseudogenes and we found that the unusual haplotype was associated with DRB6*0101 allele. This finding strengthen the hypothesis of a recombination hot spot between DRB1 and DRB6 genes.
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Results obtained during an epidemiological investigation on chronic cough and obstructive ventilatory dysfunction in subjects without bronchopulmonary affections of known etiopathogeny, carried out in a rural environment with minimal air pollution on 282 men aged between 40 and 69 years, indicate the following: --there was a lower prevalence of chronic cough in the rural environment as compared with the urban one (12.8:21.0). The percentage of heavy smokers being approximately similar in both environments, the difference could be explained by the variable intensity of air pollution, the impact of which was exerted on the large airways (hypertrophy of the serous-mucous glands resulting in hypercrinia with dyscrinia); --similar prevalence in the two environments of the obstructive ventilatory dysfunction (11,0:8,7) suggests that this abnormality, an expression of the narrowing of the small airways, could be due to other pathogenic factors. Functional pulmonary tests with sensitivity higher than the ratio between FEV 1.0 and VC (as, for instance VEmx 50% VC) could provide higher percentages of obstructive disturbances both among chronic coughing and non-coughing subjects, revealing the latent form of the obstruction, as opposed to the manifest one as evidenced by a decrease of the FEV 1.0/VC ratio.
Glass ionomers cements represent a cement system which develops by a reaction between a polyalchenic acid, usually a homo- or a copolymer of acrylic acid and a ion donor, usually an aluminium fluorosilicate glass. Introduction of these ionomers in the stomatological practice was determined by their remarkable adherence to dentin, by pulpal and parodontal biocompatibility, and because of the fact that they deliver continuously fluorine over a long period of time. These cements provide a good marginal sealing of the obturation. In the last years a new generation of glass ionomers cements has been introduced, that "Cormat" cements, in which the glass powder is intimately linked to a pure silver metallic powder by a synthetization process, and this provides a greatly increased resistance to abrasion, as compared to conventional glass ionomer cements. Presently glass ionomer cements have become increasingly known in the stomatological practice and they are used preferentially for base obturations, under obturations with composites on lateral teeth, in the treatment of mylolysis and for coronary erosions determined by brushing, which do not need preparation of retention cavities. They are also used for coronary reconstruction, and the treatment of atopical microcavities of occluding decay processes on the lateral teeth that have induced limited enamel losses. The perspective of these cements in the stomatological practice depends however on an improved translucency, which, for the present at least, does not match that of silicates and composites, as well as on an improved resistance to bending, and even the "Cormat" cements are inferior to silver amalgam which is used in the obturation of classical class II cavities.
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