336 research outputs found

    Allogeneic hematopoietic stem cell transplantation for inherited disorders: Experience in a single-center

    Get PDF

    Influence of roughness on ZDDP tribofilm formation in boundary lubricated fretting

    Get PDF
    Influence of initial surface topography on tribofilm formation in ZDDP lubricated contact was analysed. A small displacement fretting tests with sinusoidal motion were carried out in classical sphere/plane configuration. A range of surfaces with different initial roughness were prepared by milling and grinding processes. Tests were carried out using variable displacement method where amplitude of imposed displacement was gradually increased after every 1000 cycles from 2 to 30 µm. The surfaces after tribological tests were measured by interferometric profiler. Main findings confirm that initial roughness has a significant influence on antiwear tribofilm formation in boundary lubricated contact. Tribofilm form faster and require less energy to activate in case of rough surface obtained by milling process than in case of smooth grinded surface. However, in contact lubricated by ZDDP additive a significant transfer of material occurred from plane to sphere specimen

    Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology

    Get PDF
    Fanconi anemia is an inherited disease characterized by congenital malformations, pancytopenia, cancer predisposition, and sensitivity to cross-linking agents. The molecular diagnosis of Fanconi anemia is relatively complex for several aspects including genetic heterogeneity with mutations in at least 16 different genes. In this paper, we report the mutations identified in 100 unrelated probands enrolled into the National Network of the Italian Association of Pediatric Hematoly and Oncology. In approximately half of these cases, mutational screening was carried out after retroviral complementation analyses or protein analysis. In the other half, the analysis was performed on the most frequently mutated genes or using a next generation sequencing approach. We identified 108 distinct variants of the FANCA, FANCG, FANCC, FANCD2, and FANCB genes in 85, 9, 3, 2, and 1 families, respectively. Despite the relatively high number of private mutations, 45 of which are novel Fanconi anemia alleles, 26% of the FANCA alleles are due to 5 distinct mutations. Most of the mutations are large genomic deletions and nonsense or frameshift mutations, although we identified a series of missense mutations, whose pathogenetic role was not always certain. The molecular diagnosis of Fanconi anemia is still a tiered procedure that requires identifying candidate genes to avoid useless sequencing. Introduction of next generation sequencing strategies will greatly improve the diagnostic process, allowing a rapid analysis of all the genes

    Cancer risk in hospitalised psoriasis patients: a follow-up study in Sweden

    Get PDF
    We examined overall and specific cancer risks among Swedish subjects who had been hospitalised one or more times for psoriasis. A database was created by identifying such patients from the Swedish Hospital Discharge Register and linking them with the Cancer Registry. Follow-up of patients was carried out from the last hospitalisation through 2004. A total of 15 858 patients were hospitalised for psoriasis during 1965–2004, of whom 1408 developed cancer, giving an overall standardised incidence ratios (SIRs) of 1.33. A significant excess was noted for squamous cell skin cancer, and for cancers of the upper aerodigestive tract, oesophagus, stomach, liver, pancreas, lung, kidney and bladder as well as non-Hodgkin lymphoma. Many of these may reflect the effects of alcohol drinking and tobacco smoking. Patients with multiple hospitalisations showed high risk, particularly for oesophageal (SIR 6.97) and skin (SIR 4.76) cancers
    • …
    corecore