1,720,993 research outputs found
Molecular pathology of hereditary hemochromatosis
No full textL’emocromatosi ereditaria è una malattia genetica eterogenea, dovuta ad un alterato
assorbimento intestinale di ferro. Le manifestazioni cliniche della patologia non trattata
correlano con il grado di accumulo marziale e sono costituite da: artropatie, cardiopatia,
diabete, endocrinopatie, cirrosi epatica ed epatocarcinoma. Tutte queste patologie possono
essere prevenute da un trattamento di salassoterapia che rimuove il ferro in eccesso. Accanto
alla forma classica della malattia, che è la più frequente ed è dovuta a mutazioni sul gene
HFE, ne esistono altre varianti più rare dovute a mutazioni su diversi geni che codificano per
proteine che regolano l’omeostasi marziale. L’elemento unificante di tutte le forme di
emocromatosi ereditaria è dato da una inadeguata produzione o dall’inefficace azione
dell’epcidina, l’ormone che regola l’assorbimento intestinale di ferro ed il suo riciclaggio da
parte del macrofago.
Gli obiettivi della presente tesi sono i seguenti:
-mettere a punto una metodica in grado di dosare su larga scala la concentrazione di epcidina
nel siero e nelle urine
-comprendere meglio come avviene la risposta epcidinica all’assunzione orale di ferro nei
soggetti affetti da emocromatosi genetica classica e in controlli sani
-valutare il ruolo delle mutazioni non-HFE nella genesi delle malattie da sovraccarico
marziale sia come determinanti singoli sia come “modificatori genetici” quando presenti in
concomitanza con altre mutazioni
-chiarire meglio le basi molecolari e la correlazione genotipo/fenotipo nella malattia della
ferroportina, una forma particolare di emocromatosi ereditaria.not availabl
Prevalence of hereditary hyperferritinemia-catarat siyndrome in blood donors and in patients with cataract
No full textGoing 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
Anemia in patients receiving anticancer treatments: focus on novel therapeutic approaches
No full textAnemia is common in cancer patients and impacts on quality of life and prognosis. It is typically multifactorial, often involving different pathophysiological mechanisms, making treatment a difficult task. In patients undergoing active anticancer treatments like chemotherapy, decreased red blood cell (RBC) production due to myelosuppression generally predominates, but absolute or functional iron deficiency frequently coexists. Current treatments for chemotherapy-related anemia include blood transfusions, erythropoiesis-stimulating agents, and iron supplementation. Each option has limitations, and there is an urgent need for novel approaches. After decades of relative immobilism, several promising anti-anemic drugs are now entering the clinical scenario. Emerging novel classes of anti-anemic drugs recently introduced or in development for other types of anemia include activin receptor ligand traps, hypoxia-inducible factor-prolyl hydroxylase inhibitors, and hepcidin antagonists. Here, we discuss their possible role in the treatment of anemia observed in patients receiving anticancer therapies
Two new highly polymorphic markers in the 3’UTR region of the PLA2G7 gene
No full textWe described two new highly polymorphic markers located 31 bp downstream of the last nucleotide of exon 12 in the 3' UTR region of the gene PLA2G7: 1344 +31TG(n) AG(m). Eight and 14 alleles were observed for the AG and TG repeats, respectively. These two markers have the highest heterozygosity until now reported for PLA2G7 gene
Polymorphism in the factor VII gene promoter (-323°1°2 and -402 GA) and the risk of myocardial infarction in patients with advance coronary atherosclerosis
No full textVariations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Dispelling the Myths Behind First-author Citation Counts
Full text linkWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
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