1,721,181 research outputs found
Calcium-sensing receptor gene polymorphisms in patients with calcium nephrolithiasis
No full textPURPOSE OF REVIEW:
The calcium-sensing receptor gene (CaSR, chr. 3q13.3-21) is a candidate to explain nephrolithiasis. This review analyzes the potential role of CaSR in lithogenesis according to findings of functional and genetic studies.
RECENT FINDINGS:
CaSR is a cation receptor located in the tubular cell plasma membrane. Its activation decreases calcium reabsorption in the ascending limb and distal convoluted tubule, but increases phosphate reabsorption in proximal tubules and decreases water and proton reabsorption in collecting ducts. Its effects in proximal tubules and collecting ducts can limit the calcium phosphate precipitation risk induced by the increase in calcium excretion. The nonconservative CaSR gene Arg990Gly polymorphism was associated with nephrolithiasis and hypercalciuria in different populations. Arg990Gly is located on exon 7 and produces a gain of the CaSR function. rs7652589 and rs1501899 were also associated with nephrolithiasis in patients with normal citrate excretion. These polymorphisms are located in the CaSR gene regulatory region and may modify CaSR gene promoter activity.
SUMMARY:
The activating Arg990Gly polymorphism may predispose to nephrolithiasis by increasing calcium excretion. Polymorphisms at the regulatory region may predispose to nephrolithiasis by changing tubular expression of the CaSR. CaSR genotype may be a marker to identify patients prone to develop calcium nephrolithiasi
Food ingredients and supplements: is this the future?
Full text linkThe concept of adequate nutrition has been changing in the last years in light of the increased knowledge about the relationship between diet and health and the new evidence on the protective role of numerous bioactive compounds introduced with specific categories of foods. In particular, the concept of adequate nutrition has been substituted with that of optimal nutrition, in other terms, attention has been focused on nutritional needs to optimize physiological functions and promote health, minimizing the risk of development of degenerative diseases. Moreover, it is always more clear that nutritional needs can vary depending on the sub-groups of population considered and also on factors related to individual genetic characteristics, as supported by several nutrigenetic and nutrigenomic studies
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
La calcolosi renale di calcio : prospettive diagnostiche e preventive
No full textKidney stone disease is one of the main causes of hospitalization in Italy. Its prevalence increased in the last century and is probably still increasing. The pathogenesis of the disease is not known, although two main theories have been elaborated. The first hypothesizes that hydroxyapatite deposition in the interstitium of the renal papillae (Randall's plaque) precedes urinary calcium oxalate precipitation on the ulcered surface of the papilla to form a stone. The second presumes the tubular lumen of Bellini's duct to be the site where calcium-oxalate salts precipitate to form the nucleus for stone formation within the urinary tract. These pathogenetic processes may be favored by different dietary and genetic factors. The genes involved are not known, although many studies have been performed. Polymorphisms of genes coding for the vitamin D receptor, calcium-sensing receptor, interleukin-1 receptor antagonist, and urokinase were found to be associated with kidney stones, but these results have not been replicated. Different nutrients are suspected to predispose patients to calcium kidney stone disease. A high intake of animal proteins, sodium, vitamin C and oxalate has been implicated in stone formation, whereas calcium, alkalis and phytate may have a protective effect. The prevention of calcium stone formation is based on the recognition of risk factors like those already mentioned here. Furthermore, a family history of kidney stones may be useful in identifying subjects predisposed to become calcium stone formers. However, the expectations of the scientific community are turned to the advances in genetics and to the findings of genetic studies, which may provide diagnostic tools and criteria to define the risk profile of the single individual
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