1,721,044 research outputs found
Thalassemia intermedia
No full textThalassemia intermedia is a clinical definition applied to patients whose clinical phenotype is milder than that of thalassemia major. Criteria used to define thalassemia intermedia including age at presentation, hemoglobin or fetal hemoglobin levels and transfusion independence, are unsatisfactory. The possibility of typing the molecular defect allows a retrospective analysis of patients and offers a new tool for the diagnosis of thalassemia intermedia. Nevertheless, because of several factors that interact in the disease expression, the β-genotype alone is not predictive of the phenotype in all cases. Although benign, the clinical course of thalassemia intermedia is characterized by several complications that can be prevented by an accurate follow-up. The conventional treatment of thalassemia intermedia remains controversial; it is hoped that recent advances in the pharmacological manipulation of hemoglobin switching will offer a therapeutic option in the future, at least to selected patients
Molecular Pathology of Inherited Erythrocyte-membrane Disorders - Hereditary Spherocytosis and Elliptocytosis
No full textHereditary spherocytosis and elliptocytosis are common genetic defects of the red blood cell membrane skeleton. In recent years rapid advances have been made in the knowledge of the protein structure and assembly of the cytoskeleton. Thanks to the wide use of protein analysis methods several alterations have been discovered in functionally important domains of the different cytoskeletal proteins in these diseases. The cloning of cDNA for the majority of the cytoskeletal proteins allows us to begin elucidating some of these defects at the DNA level. This paper will review the effects of recent advances upon: cytoskeleton structure and assembly; molecular pathology of spherocytosis, elliptocytosis and pyropoikilocytosis
Inherited disorders of iron metabolism
No full textPurpose of Review: To discuss inherited iron disorders, their pathophysiology and clinical implications in the light of the recent advances in our knowledge of iron metabolism and its regulation. RECENT FINDINGS: In previous years the molecular mechanisms of cellular iron uptake and release and the cellular and systemic iron homeostasis have been substantially clarified. New proteins (hepcidin, hemojuvelin, HFE, TFR2 and ferroportin), mutated in hereditary hemochromatosis, have been identified with a crucial role in iron regulation. These advances have modified our understanding of the pathophysiology of hemochromatosis, now considered a disorder either due to hepcidin deficiency or (rarely) due to hepcidin resistance. Novel genetic forms of iron-related microcytic anemia have been identified, due to defects of iron transport/utilization or to TMPRSS6 deficiency and hepcidin hyperproduction, as occurs in iron-refractory iron deficiency anemia (IRIDA). A role for hepcidin has been identified also in acquired conditions, as in iron-loading anemias and in anemia of chronic diseases and inflammation. SUMMARY: Advances in basic research have improved the classification and diagnosis of genetic anemias and iron overload and are paving the way towards the development of drugs that target the molecular lesions
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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