1,720,980 research outputs found
Enzymatic antioxidative defence of erythrocytes in an Italian family with Hb Volga or alpha 2 beta 2 27 (B9) Ala----Asp.
No full textPlasma membrane fluidity and polarity of polymorphonuclear leukocytes from children with type I diabetes mellitus
No full textInfluence of splenectomy on the properties of erythrocytes with hemoglobin Volga disease.
No full textHemoglobin Volga is a rare unstable hemoglobin in which there is a replacement of an internal alanine residue, beta 27 (B9), by an aspartate. From a clinical point of view it is characterized by a moderately severe Heinz body hemolytic anemia. A possible clue to the cause of the hemolysis is the increased vulnerability to oxidation of Hb Volga, with increased free radical turnover and consequent damage to the red cell membrane. Splenectomy performed on carriers of Hb Volga may have a positive outcome leading to improvements in both the clinical condition of the patient and hematological variables such as hemoglobin concentration and bilirubin concentration. With the aim of defining a more complete biochemical picture of the beneficial effect of splenectomy in this disease, we have evaluated some enzymic activities of the red cells of a young patient with Hb Volga disease, before and after splenectomy. In particular, we have investigated the activity of superoxide dismutase (superoxide: superoxide oxidoreductase), glutathione peroxidase (GSH peroxidase, glutathione: hydrogen-peroxidase oxidoreductase) and catalase (hydrogen-peroxide: hydrogen-peroxide oxidoreductase) that catalyze reactions relevant to the steady-state concentration of potentially toxic oxygen derivatives such as O2- and H2O2. Besides, we have carried out experiments on the erythrocytic membrane to evaluate eventual changes on the chemical (i.e. peroxidation) and physico-chemical (i.e. fluidity) properties following surgery
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
Variations 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
Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D : presentation of two new cases.
No full textAn adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene
No full textThe Sanfilippo type A syndrome, one of the most frequent forms of mucopolysaccharidosis III, is characterized by severe mental retardation, progressive neurological degeneration, and mild somatic changes. It is due to a deficiency of heparan-N-sulfatase (sulfamidase) activity and consequent excretion of heparan sulfate in the urine. The disease is transmitted through an autosomal recessive mechanism, and more than 60 gene mutations have been identified. Up to now, only 10 cases of attenuated form of Sanfilippo type A syndrome have been described, and the specific mutation has been identified only in two of them. We report here on a female patient, 20 years old, with Sanfilippo type A syndrome presenting with a mild clinical phenotype characterized essentially by a moderate nonevolving mental retardation. The genetic analysis demonstrated that the patient is homozygous for mutation R206P; presence of polymorphism R456H was also found. This study places R206P as a mild mutation underlying Sanfilippo type A disease
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