1,721,304 research outputs found
From-omics to personalized medicine in nephrology: Integration is the key
No full textLarge-scale gene, protein and metabolite measurements ('omics') have driven the resolution of biology to an unprecedented high definition. Passing from reductionism to a system-oriented perspective, medical research will take advantage of these high-throughput technologies unveiling their full potential. Integration is the key to decoding the underlying principles that govern the complex functions of living systems. Extensive computational support and statistical modelling is needed to manage and connect the-omic data sets but this, in turn, is speeding up the hypothesis generation in biology enormously and yielding a deep insight into the pathophysiology. This systems biology approach will transform diagnostic and therapeutic strategies with the discovery of novel biomarkers that will enable a predictive and preventive medicine leading to personalized medicine. © 2013 The Author
Epidemiology and ancestral difference
No full textThe following sections are included:
Introduction
Worldwide Distribution
Europe
America
Australia
Asia
Conclusion
Reference
Genome-wide association studies in kidney diseases: Quo Vadis
Full text linkA genome-wide association (GWA) study is a genetic epidemiology approach designed to scan genetic variation across the entire human genome in order to identify genetic associations with phenotypic traits as well as the presence or absence of a disease. Hundreds of thousands of single-nucleotide polymorphisms (SNPs), the most common form of genetic variant, serve as markers. SNPs are assayed and related to diseases or health-related conditions applying bioinformatics algorithms. This has become feasible thanks to the recent technological improvements in the so-called high-throughput technologies. The analysis identifies regions (loci) with statistically significant differences in allele or genotype frequencies between cases and controls and so the variations are said to be ‘associated’ with the diseas
Worldwide distribution of glomerular diseases: The role of renal biopsy registries
No full textMany published papers describe the frequency of histolog- ical findings from different biopsy databases all over the world. Ranging in number from hundreds to thousands, these collections sometimes report not only the frequency of the disease but the clinical and demographic correlations, too. However, the data provided are not always compara- ble mainly because of the lack of a common national renal biopsy registry. Polito et al. [1], in their paper, evaluated 9617 native renal biopsies from Brazil during the period 1993–2007 and reported the frequencies of the different histological findings. They also take into account demo- graphic and clinical features, present several analysis and compare the results with patterns of glomerular disease distribution all over the world. It is interesting to notice that Brazil encompasses both the features of developed and developing countries and this paper allows us to better
Ritenzione urinaria e iperattività del pavimento pelvico
No full textLa ritenzione urinaria è una condizione caratterizzata da una vescica palpabile e/o delimitabile percussoriamente che si può verificare o quando il paziente non è in grado di mingere (ritenzione acuta) ed avverte dolore soprapubico o dopo aver urinato (ritenzione cronica) (Abrams P, 2002). Questa condizione può essere dovuta ad una disfunzione detrusoriale e/o ad una alterata funzione uretrale durante la fase di svuotamento. Focalizzando l’attenzione solo sulla funzione uretrale durante la fase di svuotamento, in accordo con la più recente standardizzazione terminologica proposta dall’Interational Continence Society (ICS) (Abrams P, 2002), una normale funzione uretrale è definita come “ un’uretra che si apre e si rilascia in modo continuo per consentire alla vescica di svuotarsi con una pressione normale”. Di contro una funzione uretrale alterata “può essere dovuta o ad una ostruzione secondaria ad iperattività uretrale o la vescica non è in grado di aprirsi per una alterazione anatomica come una ipertrofia prostatica o una stenosi uretrale”.
Dal punto di vista urodinamico una funzione uretrale alterata può essere correlata ad una ostruzione al deflusso vescicale (bladder outlet obstraction = BOO, ad una dissinergia detrusore-sfintere (DDS), ad una ostruzione da mancato rilasciamento dello sfintere uretrale o ad uno svuotamento disfunzionale.
Le due principali tipologie di cause che portano all’insorgenza sia nell’uomo che nella donna di una ritenzione urinaria sono: anatomica o funzional
Computational and Experimental Analysis of Direct CNG Injection and Mixture Formation in a SI Research Engine
No full textSeismic risk in the chemical process industry: A semi-quantitative methodology for critical equipment identification
No full textNatural events, such as earthquakes, floods, etc., can play a significant role in triggering industrial accidents of various intensities (the so-called Na-Tech risk), so that their inclusion in a comprehensive risk assessment is very important. However, a detailed and comprehensive quantitative approach is often unrealistic, because of the extremely large number of calculations to be carried out and of scenarios to be analysed. A preliminary semi-quantitative methodology is here presented for the characterization of the safety level of the different equipment items located in an industrial site, with respect to seismic hazard. Still based on objective evaluations, the presented approach allows to reduce the calculation burden, rank the equipment items in terms of relative seismic risk, and to identify the most critical items which more urgently need further attention. Along with the proposed methodology, an example of its application to a real industrial case is presented
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