Biomedical subjects
Publications and source records attributed to E Longhi.
We report herein the identification of a new HLA-DRB1 allele, DRB1*0707. This new allele was seen in a volunteer bone marrow donor (ID#118069) belonging to the German bone marrow donor registry (DKMS). HLA-DRB1*0707 was detected while performing HLA-DRB1 high resolution typing by sequence based typing. This novel allele differs from DRB1*070101 by a single nucleotide substitution at position 163 (C-->T) in exon 2.
In this brief communication we report the characterization of two new HLA-B variants officially named HLA-B*0817 and HLA-B*1311. The HLA-B*0817 allele was identified in a Caucasoid male candidate for renal transplantation in the North Italy Transplant program. The nucleotidic sequence of exons 2, 3 and 4 of this novel allele is identical to that of HLA-B*0804 except for three point mutations in exon 2: from A to G at position 259, from C to G at position 261 and from G to A at position 302. These mutations are responsible for two aminoacidic substitutions [Asn (r) Glu, codon 63, and Ser (r) Asn, codon 77]. HLA-B*1311 was found in a volunteer donor belonging to National Marrow Donor Program(R). This new variant is identical to that of HLA-B*1301 except for three nucleotide substitutions at positions 353, 355 and 369 leading to two aminoacidic variations from Ile to Thr at codon 94 and from Ile to Leu at codon 95 and a silent mutation at codon 99.
SUMMARY: Given the poor prognosis of patients with advanced cutaneous T-cell lymphoma and the high transplant-related mortality associated with conventional allogeneic bone marrow transplantation, we performed nonmyeloablative transplantation of allogeneic stem cells (ASCT) from HLA-identical siblings in three patients with this disease. All patients achieved full donor engraftment, clearance of clonal T cells leading to durable complete remissions but experienced high incidence of infections, which proved fatal in one case. These results suggest that nonmyeloablative ASCT is a novel and potentially curative therapy for patients with advanced T-cell lymphomas who have a histocompatible sibling.
In this report we describe a new HLA-DRB1 allele, DRB1*1353, which was initially recognized by a discrepancy between the results obtained with polymerase chain reaction using sequence-specific oligonucleotide (PCR-SSO) and sequence-specific primers (PCR-SSP). Sequence-based typing revealed sequence differences with other known HLA-DRB1 alleles. DRB1*1353 is identical to DRB1*13011 except for two nucleotide substitutions at nucleotide 84 (C(r)G) and at nucleotide 140 (T(r)A). These differences give rise to two amino acid substitutions at codons 28 and 47 from Asp to Glu and from Phe to Tyr, respectively.
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We report the identification of a novel DRB3*02 using sequence-based typing (SBT). This new allele, officially named DRB3*0217, was detected while performing HLA high resolution typing of a bone marrow recipient and his siblings. DNA sequencing demonstrated the presence of a nucleotide substitution in exon 2 at position 199 where a C was substituted by a T. This point mutation at codon 67 (CTC-->TTC) has resulted in an amino acid substitution from Leucine to Phenylalanine.
Polymorphisms in the regulatory and intronic regions of several cytokines have been associated with differential cytokine production. In this paper we genotyped, using the polymerase chain reaction-sequence-specific primers (PCR-SSP) method, a series of 363 healthy Italian Caucasians with the aim of obtaining a reference population for further studies on the role of cytokines in the inflammatory and immune responses. We also compared the results to those for other populations. The polymorphisms analysed were those of tumour necrosis factor alpha (TNFA), interleukin 6 (IL-6), interleukin 10 (IL-10) and interferon gamma (IFNG). We found that the frequency of allele TNFA*1 at position -380 was 87.7% and that of TNFA*2 was 12.4%, significantly different from those of the UK and Japanese populations but not different from that of a population in Gambia. For IL-10 the frequencies of alleles -1082A and -1082G were 63.0% and 37.0% and those of alleles -819C, - 819T, -592C and -592A were 70.8, 29.2, 70.8 and 29.2%, respectively, significantly different from those observed in south-east England, in Manchester and in an Oriental population from southern China. The frequencies of IL-6 alleles - 174C and -174G were 29.0 and 71.0%, respectively; for IFNG polymorphisms at position -874, in the population under evaluation, the alleles -874T and -874A were present in 44.7 and 55.3% of the subjects, respectively. Genotype frequencies of IL-6 were significantly different from those observed in populations from Germany and from the UK. The analysis carried out by our group indicates that there is heterogeneity in the frequencies of the cytokine polymorphisms among the different Caucasian populations, and this underlines the importance of a 'local' reference population when evaluating the clinical relevance of cytokine gene polymorphisms.
The measurement of force distributions in sandpiles provides a useful way to test concepts and models of the way forces propagate within noncohesive granular materials. Recent theory [J.-P. Bouchaud, M.E. Cates, and P. Claudin, J. Phys. I 5, 639 (1995); M. E. Cates, J. P. Wittmer, J.-P. Bouchaud, and P. Claudin, Phil. Trans. Roy. Soc. 356, 2535 (1998)] by Bouchaud et al. implies that the internal structure of a heap (and therefore the force pathway) is a strong function of the construction history. In general, it is difficult to obtain information that could test this idea from three-dimensional granular experiments except at boundaries. However, two-dimensional systems, such as those used here, can yield information on forces and particle arrangements in the interior of a sample. We obtain position and force information through the use of photoelastic particles. These experiments show that the history of the heap formation has a dramatic effect on the arrangement of particles (texture) and a weaker but clear effect on the forces within the sample. Specifically, heaps prepared by pouring from a point source show strong anisotropy in the contact angle distribution. Depending on additional details, they show a stress dip near the center. Heaps formed from a broad source show relatively little contact angle anisotropy and no indication of a stress dip.
We experimentally determine ensemble-averaged responses of granular packings to point forces, and we compare these results to recent models for force propagation in a granular material. We use 2D granular arrays consisting of photoelastic particles: either disks or pentagons, thus spanning the range from ordered to disordered packings. A key finding is that spatial ordering of the particles is a key factor in the force response. Ordered packings have a propagative component that does not occur in disordered packings.
We report herein the identification of HLA-B*4902. This new allele was identified in a Caucasian individual serologically typed as B49. The allele codifying for this antigen was not clearly detectable with polymerase chain reaction using sequence-specific primers (PCR-SSP) because of an atypical amplification pattern. DNA sequencing demonstrated the presence of a new variant due to two nucleotide substitutions (from G to C and from T to C) in exon 2 at nucleotides 309 and 311 respectively. These substitutions would result in a silent mutation and in one amino acid substitution from Ile to Thr, respectively.
We report the identification of a novel DRB1*11 using sequence-based typing. This new allele, officially named DRB1*1139, was detected while performing HLA-DRB1 high-resolution typing of a volunteer bone marrow donor. DRB1*1139 is identical to DRB1*11011 except at codon 51 (ACG-->AGG) changing the encoded Threonine to Arginine. The triplet AGG has never been found in any other DRB1 allele. In fact, with standard polymerase chain reaction (PCR) amplification with sequence specific primers, the presented allele would have been interpreted as DRB1*1101 (Note).
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