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Patients with Gaucher type 1 (GD1) throughout Argentina were enrolled in the Argentine bone project to evaluate bone disease and its determinants. We focused on presence and predictors of bone lesions (BL) and their relationship to therapeutic goals (TG) with timing and dose of enzyme replacement therapy (ERT). A total of 124 patients on ERT were enrolled in a multi-center study. All six TG were achieved by 82% of patients: 70.1% for bone pain and 91.1% for bone crisis. However, despite the fact that bone TGs were achieved, residual bone disease was present in 108 patients on ERT (87%) at time 0. 16% of patients showed new irreversible BL (bone infarcts and avascular osteonecrosis) despite ERT, suggesting that they appeared during ERT or were not detected at the moment of diagnosis. We observed 5 prognostic factors that predicted a higher probability of being free of bone disease: optimal ERT compliance; early diagnosis; timely initiation of therapy; ERT initiation dose ≥45 UI/kg/EOW; and the absence of history of splenectomy. Skeletal involvement was classified into 4 major phenotypic groups according to BL: group 1 (12.9%) without BL; group 2 (28.2%) with reversible BL; group 3 (41.9%) with reversible BL and irreversible chronic BL; and group 4 (16.9%) with acute irreversible BL. Our study identifies prognostic factors for achieving best therapeutic outcomes, introduces new risk stratification for patients and suggests the need for a redefinition of bone TG. Am. J. Hematol. 91:E448-E453, 2016. © 2016 Wiley Periodicals, Inc., (© 2016 Wiley Periodicals, Inc.)

The interferon (IFN) system (alpha, beta and gamma IFNs) is closely related to the first line of defenses against viral and tumoral diseases. Chronic leukemic and chronic lymphoproliferative patients respond in variable degrees to therapy with exogenous IFN. Remission after treatment with IFN-alpha in hairy cell leukemia (HCL) and in chronic myelogenous leukemia (CML) have been reported by other authors. In order to determine whether there are differences in IFN-alpha and beta genes between healthy and chronic leukemic individuals and among the different chronic leukemic patients, restriction fragment length polymorphism (RFLP) analyses was performed in a panel of patients with HCL, CML and chronic lymphocytic leukemia (CLL), and in a sample of healthy individuals. A significant difference in the allelic frequencies for the IFN-beta and Sst I enzyme in Chronic leukemias, mainly of myeloid origin, compared with the healthy individuals, was found.

Purpose: To evaluate bone marrow granulomatous lesions in order to establish their etiology., Material and Methods: 2,250 bone marrow biopsies were studied during the period of March 1983-March 1991. Granulomas and/or granulomatous lesions were found in 24 of them (1.06%). A correlation between histological characteristics, special stains: PAS, Ziehl Neelsen and Grocott and cultures were done. Immunohistochemistry was done to evaluate B or T cell-lineage in 4 patients., Results: The 24 patients were biopsied because of the clinical diagnosis of haematological and non-haematological neoplasias, infections, AIDS, sarcoidosis and fever of unknown origin. Bone marrow cellularity ranged from 20% to 75% (M: 49.8%). Myeloid cells were increased in 54% of the cases. The number of granulomas ranged from 1 to 19 (M: 3.9). The epithelioid cells were the predominant component in 66% of the cases. Of the 7 patients with non-Hodgkin's lymphoma, 4 had lymphomatous involvement with granulomatous pattern. These cases showed predominance of lymphoid cells and vessels in addition to epithelioid cells., Conclusion: We consider that in order to establish a relationship between infection and granuloma, the identification of a microorganism through a culture is a more reliable test. We couldn't find any morphological characteristic which allowed an etiologic diagnosis of bone marrow granulomas. In case of lesions with a great lymphocytic and vascular proliferation plus the presence of epithelioid cells and fibrosis, NHL with bone marrow involvement with a granulomatous pattern should be strongly considered.