1,721,191 research outputs found
Thrombopoietin receptor agonists in hereditary thrombocytopenias
No full textHereditary thrombocytopenias (HTPs) constitute a heterogeneous group of diseases characterized by a reduction in platelet count and a potential bleeding risk. As a result of advances in diagnostic methods, HTPs are increasingly being identified, and appear to be less rare than previously thought. Most HTPs do not have effective treatments, except for platelet transfusion when bleeding occurs and in preparation for procedures associated with a risk of bleeding. Preliminary clinical evidence suggests that thrombopoietin receptor agonists (TPO-RAs) with an established use in the treatment of certain acquired thrombocytopenias are well tolerated and provide clinical benefits in patients with some forms of HTP. These drugs may therefore be considered for the treatment of HTPs in clinical practice. However, caution and close monitoring are recommended, owing to the absence of long-term safety data and the potential risks posed by prolonged bone marrow stimulation in certain HTPs. In this review, we summarize the available clinical data on TPO-RAs in the treatment of HTPs, and discuss their use in patients with these disorders. We believe that TPO-RAs will play a major role in the treatment of HTPs, particularly myosin heavy chain 9-related disease, Wiskott-Aldrich syndrome, X-linked thrombocytopenia, and thrombocytopenia caused by THPO mutations
Anisometria associata a prematurità: nostra esperienza su 350 casi in 6 anni di follow-up
No full textPhenotypic homozygous activated protein C resistance associated with compound heterozygosity for Arg506Gln (factor V Leiden) and His1299 Arg substitutions in factor V
No full textTwo patients from two unrelated families with a history of thrombosis showed severe plasma activated protein C (APC) resistance. However, genotypic analysis demonstrated that the patients were heterozygous for factor V (FV) Leiden mutation. Coagulation studies revealed that FV clotting activity and antigen were similarly reduced at about 50% of normal in the patients. One brother of propositus A also showed the same abnormalities. Genetic analysis showed that, in addition to FV Leiden mutation in exon 10 of the FV gene (G1691A), these patients had a transition in exon 13 of the FV gene (A4070G; R2 allele) predicting His1299Arg substitution in the mature FV. Study by RT-PCR of platelet FV mRNA indicated that the mRNA produced by the FV gene, marked by the R2 allele, was reduced in amount in both pseudohomozygous patients of family A. The R2 allele has previously been demonstrated to be significantly associated with plasma FV deficiency in the Italian population. The presence of FV deficiency did not protect the propositi from thrombosis. These data confirm that genotypic analysis is mandatory in patients with phenotypic severe APC resistance before these patients are definitely classified as homozygotes for FV Leiden and that further genotypic analysis is advisable
Association of plasma fibrinogen, C-reactive protein and G-455>A polymorphism with early atherosclerosis in the VITA Project cohort.
No full textStratigraphy of the Servino Formation (Lombardy, Southern Alps): towards a correlation with the Werfen Formation of the Dolomites.
No full textThe Servino Formation, representing the Lower Triassic in the Lombardy Southern Alps, records a major tectono-eustatic transgression that flooded the Permian alluvial plains at the onset of the Triassic. The stratigraphy of the Servino Formation in central and eastern Lombardy is here revised taking into account both recently published and newly-measured stratigraphic sections. Recognition of roughly isochronous petrologic intervals, which can be traced in all considered sections, and improved biostratigraphic control thanks to a recently acquired paleontologic datum, allowed us to subdivide the Servino Formation with greater detail than possible so far and to introduce two new members formally. The new stratigraphic scheme comprises six superposed members, from hottom to top: 1) conglomerates and sandstones deposited in fan delta settings (Prato Solaro Member), locally transgressed by hyhrid oolitic arenites (Praso Limestone); 2) quartzose sandstones with abundant interstitial dolomite (Ca’ San Marco Member, firstly introduced herein); 3) oolitic coquinoid limestones yielding iron ores and passing laterally to red calcarenites and mudrocks (“Gastropod Oolite”); 4) arkosic sandstones, displaying pebbly lags in the Lake Como area (Acquaseria Member, firstly introduced herein); 5) carbonates and marls, at places coquinoid and yielding iron ores (“Myophoria Beds”); 6) variegated siltstones and marls (“Upper Member”). This scheme is useful for detailed mapping of the Servino Formation and represents a significant step towards correlation with the long established members of the Werfen Formation. In particular, correlation between the Ca’ San Marco and Siusi Members is documented by analogous Claraia assemblages in both Lombardy and the Dolomites. Thickness of Lower Triassic sediments from the Dolomites to Lombardy appears to decrease abruptly across the Giudicarie Line, rather than gradually, probably due to an inherited Permian paleotopograph
Age-adjusted reference limits for carotid intima-media thickness as better indicator of vascular risk: population-based estimates from the VITA project.
No full textThe Ser460Pro substitution of the protein S (PS) gene in rare in Italian patients with type IIa PS deficiency.
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Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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