1,721,496 research outputs found
[Genetic risk factors in ischemic cardiopathy]
No full textCoronary artery disease is a complex disease, characterized by a myriad of interactions between environmental and genetic factors. There is a growing interest about the genetic components. This research field is rapidly growing, and could offer new diagnostic and therapeutic tools in a near future. This paper will focus on common variations in several candidate genes. They have been categorized into three groups, according to different pathophysiological mechanisms: 1) lipid metabolism; 2) hemostatic balance; 3) non-lipid metabolism
The changing landscape of iron deficiency
No full textIron deficiency (ID) with or without anemia is common worldwide. ID is a broad definition encompassing decreased total body iron (absolute deficiency) as well as reduced iron supply to erythropoietic and/or other organs with preserved stores (functional iron deficiency, FID), as it occurs in inflammation. Increased iron needs unbalanced by iron supply, low iron intake, reduced absorption and chronic blood loss, often in combination, are the main causes of absolute ID, easily diagnosed by low ferritin levels. In all these cases hepcidin synthesis is repressed, while in FID is augmented by inflammatory cytokines, causing iron sequestration in stores. Because of increased ferritin levels diagnosis of ID in the latter condition may be tricky: global clinical evaluation, accepted threshold of iron tests together with response to iron treatment may be of help. Search and removal of the responsible cause(s) is as important as diagnosing ID or FID. The response to oral iron treatment is suboptimal when hepcidin levels are high. Future research is needed to establish/validate markers for improved diagnosis of complex cases and to test the therapeutic value of drugs under development aimed at interfering with the altered iron trafficking
The role of Neutrophil Extracellular Traps in Covid-19: Only an hypothesis or a potential new field of research?
No full textletter to Edito
Manipulating hepcidin in polycythemia vera
No full textIn this issue of Blood, Bennett et al1 provide elegant data supporting the mounting evidence of the critical role of hepcidin, the master regulator of iron metabolism, in the pathophysiology of polycythemia vera (PV). Another very recent article by Stetka et al, in Blood, also explored hepcidin and PV.
Deironing the spleen with luspatercept
No full textIn this issue of Blood, Denton et al1 show that luspatercept induces iron redistribution by reducing splenic iron without changing liver iron content in patients with 0-thalassemia (0-thal). This challenges the understanding that the iron content of the liver reflects total body iron and suggests that magnetic resonance imaging (MRI) scans should ideally include the liver and spleen to adequately monitor iron status in patients with iron-loading anemias treated with an erythroid maturation agent
["Hyperferritinemia-cataract syndrome". Description of a new hereditary disease, from anamnesis to molecular diagnosis]
No full textA new autosomal-dominant genetic disorder, which has been recently identified by our group is described. The disease is clinically characterized by the combination of a substantial increase of serum ferritin and early-onset bilateral cataract. Moreover, it is clearly distinguishable from genetic hemochromatosis because of: 1) normal to low serum iron and transferrin saturation, without evidence of parenchymal iron overload; 2) the dominant transmission; 3) the lack of any relation with HLA; 4) the rapid development of iron-deficient anemia when unnecessary phlebotomies are performed. The molecular basis of the new syndrome is a mutation in the L-subunit ferritin gene on chromosome 19 (19q13.3-->19qter). The mutation involves a five nucleotide sequence [CAGUG] of the iron-responsive-element (IRE), which is critical for the post-transcriptional regulation of ferritin synthesis by means of the binding with an Iron Regulatory Protein. As a consequence, ferritin synthesis is up-regulated, irrespective of cell iron status
[Ion transport in erythrocytes: a universal physiological model. Reflections on the pathogenesis of hypertension (editorial)]
No full textThe red cell represents a useful model for the study of general pathophysiological mechanisms, because of its availability and the relative easiness of the methodological approach due to the absence of nucleus and organelles. Particularly, most of the transmembrane ion transport systems, which control the homeostasis of intra- and extracellular electrolytes, have been firstly discovered in the red cell membrane. The pathophysiological importance of these transport systems is often extended to non haematological diseases like essential hypertension. Several reports from different laboratories have established that the red cell Na+/Li+ countertransport is stimulated in patients with essential hypertension. The regulation of Na+/Li+ countertransport, relationship with plasma and membrane lipids and the possibility of modulating its activity by dietary interventions, are focused in the last part of this review
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