1,721,478 research outputs found

    Knockdown of BBS10 in Renal Cells Affects Apical Targeting of AQP2: A Possible Explanation for the Polyuria Associated with Bardet-Biedl Syndrome

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    Background: Bardet-Biedl syndrome (BBS) is a autosomal-recessive ciliopathy characterized by defects in multiple organ systems causing retinal degeneration, obesity, hypogonadism, polydactyly, mental retardation, and renal dysfunction. In particular, polyuria and polydipsia, with impairment of renal concentration ability, are the earliest signs of renal dysfunction

    Going Beyond Counting First Authors in Author Co-citation Analysis

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    The 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

    Calcium nephrolithiasis, metabolic syndrome and the cardiovascular risk

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    Considering the prevalence of calcium nephrolithiasis in the general population, up to 10–15%, the association of renal stones with CV diseases is an important topic to be clarified. Unfortunately, at the moment, we have much more doubts than certainties. It is unquestionable that further studies are necessary to establish a clear relationship between nephrolithiasis and CV risk and to disclose the potential mechanism(s)

    Serum and urine osmolality: clinical and laboratory features.

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    Clinical practice is frequently challenged by limited funding and resources, which finally limit both clinical effectiveness and safety of some therapies. Electrolyte disorders represent serious problems in the clinical management. Nonetheless the osmometer, that is the reference instrument for routine assessment of osmolality, it is only available in a limited number of healthcare facilities. The diagnosis of the leading electrolyte disorders relies therefore on indirect criteria, frequently inaccurate, especially when inappropriately used. According to recent evidences emerged on prevalence, severity and therapeutic approach of patients with electrolyte disturbances such as hyponatremia, the diagnostic appropriateness is now regarded as an essential aspect of the clinical decision making. Recent multidisciplinary guidelines indicate that urinary osmolality is a mainstay in the differential diagnosis of hyponatremic states. Since hyponatremia is commonplace across a broad range of clinical conditions, it is noteworthy that accurate knowledge of the different equations that may be used for its calculation in serum or urine is not widespread among general and hospital physicians. To couple with these clinical issues, this article is aimed to briefly describe the epidemiology and clinics of osmolality disturbances and to suggest some equations that may be useful for its routine assessment in serum or urine, and which can be applied to different categories of patients. The usefulness and reliability of additional indirect methods used in the diagnostic approach of electrolyte disturbances, such as the assessment of urine specific gravity, will also be briefly discussed. The equations that will be proposed have been validated in small sample population studies, but are commonly used as a surrogate or replacement of direct osmolality assessment. A larger multicentric study is hence necessary to validate the clinical use of the equations used for the calculation of serum and urine osmolality
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