Search results for "INFORMATICS"
showing 10 items of 2542 documents
Circular RNAs in Sepsis: Biogenesis, Function, and Clinical Significance
2020
Sepsis is a life-threatening condition that occurs when the body responds to an infection that damages it is own tissues. The major problem in sepsis is rapid, vital status deterioration in patients, which can progress to septic shock with multiple organ failure if not properly treated. As there are no specific treatments, early diagnosis is mandatory to reduce high mortality. Despite more than 170 different biomarkers being postulated, early sepsis diagnosis and prognosis remain a challenge for clinicians. Recent findings propose that circular RNAs (circRNAs) may play a prominent role in regulating the patients’ immune system against different pathogens, including bacteria and viruses. Mou…
Computational cluster validation for microarray data analysis: experimental assessment of Clest, Consensus Clustering, Figure of Merit, Gap Statistic…
2008
Abstract Background Inferring cluster structure in microarray datasets is a fundamental task for the so-called -omic sciences. It is also a fundamental question in Statistics, Data Analysis and Classification, in particular with regard to the prediction of the number of clusters in a dataset, usually established via internal validation measures. Despite the wealth of internal measures available in the literature, new ones have been recently proposed, some of them specifically for microarray data. Results We consider five such measures: Clest, Consensus (Consensus Clustering), FOM (Figure of Merit), Gap (Gap Statistics) and ME (Model Explorer), in addition to the classic WCSS (Within Cluster…
Cognitive Load and Learning in the Study of Multiple Documents
2018
This study had two main purposes. First, to test how the availability of documents in multiple document reading might affect students’ levels of cognitive load. Secondly, to develop an instrument that captures the different sources of load when working with multiple documents. A total of 125 secondary school students read four short texts on transgenic foods and subsequently responded to an open-ended question that required them to write an essay expressing their personal stance towards the topic. Participants in the experimental treatment condition (n = 54) were allowed to go back to the texts any time during the essay task, whereas their peers in the control condition (n = 71) were not al…
Incentive Mechanism for Edge Computing-Based Blockchain: A Sequential Game Approach
2022
The development of the blockchain framework is able to provide feasible solutions for a wide range of Industrial Internet of Things (IIoT) applications. While the IIoT devices are usually resource-limited, how to make sure the acquisition of computational resources and participation of the devices will be the driving force to realize blockchain. In this work, an edge computing-based blockchain framework is considered, where multiple edge service providers (ESPs) can provide computational resources to the IIoT devices. We focus on investigating the trading between the devices and ESPs, where ESPs are the sellers and devices are the buyers. A sequential game is formulated and by exploring the…
Incidence of potential drug interactions in a transplant centre setting and relevance of electronic alerts for clinical practice support
2013
Background Adverse drug events may occur as a result of drug–drug interactions (DDIs). Information technology (IT) systems can be an important decision-making tool for healthcare workers to identify DDIs.Objective The aim of the study is to analyse drug prescriptions in our main hospital units, in order to measure the incidence and severity of potential DDIs. The utility of clinical decision-support systems (CDSSs) and computerised physician order entry (CPOE) in term of alerts adherence was also assessed. DDIs were assessed using a Micromedex healthcare series database.Methods The system, adopted by the hospital, generates alerts for prescriptions with negative interactions and thanks to a…
A ceRNA analysis on LMNA gene focusing on the Hutchinson-Gilford progeria syndrome
2013
Background: Hutchinson-Gilford progeria syndrome is a rare dominant human disease of genetic origin. The average life expectancy is about 20 years, patients’ life quality is still very poor and no efficient therapy has yet been developed. It is caused by mutation of the LMNA gene, which results in accumulation in the nuclear membrane of a particular splicing form of Lamin-A called progerin. The mechanism by which progerin perturbs cellular homeostasis and leads to the symptoms is still under debate. Micro-RNAs are able to negatively regulate transcription by coupling with the 3’ UnTranslated Region of messenger RNAs. Several Micro-RNAs recognize the same 3’ UnTranslated Region and each Micr…
Enzyme replacement and gene therapy for mucopolysaccharidoses: current progress and future directions
2015
Introduction: Mucopolysaccharidoses (MPS) are lysosomal storage disorders caused by the deficiency of enzymes that are responsible for the stepwise degradation of complex carbohydrates, the glycosaminoglycans. Whereas in the past the treatment of MPS consisted mainly of palliative care, enzyme replacement therapy (ERT) is now possible for some MPS disorders, and in the future many other therapeutic options will become available.Areas covered: This review, based on personal experience and the currently available literature, will give an overview on the efficacy and limitations of ERT and will discuss new therapeutic approaches, such as anti-inflammatory drugs, substrate reduction therapy, ch…
GLI3 is rarely implicated in OFD syndromes with midline abnormalities
2011
A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining ninety-three probands here. This includes nineteen probands (twelve mutations) who fulfilled clinical criteria for GCPS or PHS, forty-eight probands (sixteen mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), twenty-one probands (six mutations) with featu…
Role of Adenosine Receptors in Rare Neurodegenerative Diseases with Motor Symptoms
2021
: The approval of istradefylline, an adenosine 2A receptor (A2AR) antagonist, as an addon treatment in adult patients with Parkinson’s disease by the Food and Drug Administration (FDA) and European Medicines Agency (EMA), is the latest proof of the importance of the adenosinergic system in the nervous system. Adenosine is an endogenous purine nucleoside with a role as a modulator of both neurotransmission and the inflammatory response. As such, the expression pattern of the 4 adenosine receptors (A1R, A2AR, A2BR and A3R) and the extracellular adenosine levels have attracted great interest in the pathogenesis and possible treatment of rare neurodegenerative diseases with motor symptoms. The…
Glucocorticoid excess and COVID-19 disease
2020
AbstractThe pandemic of coronavirus disease (COVID-19), a disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), is causing high and rapid morbidity and mortality. Immune system response plays a crucial role in controlling and resolving the viral infection. Exogenous or endogenous glucocorticoid excess is characterized by increased susceptibility to infections, due to impairment of the innate and adaptive immune system. In addition, diabetes, hypertension, obesity and thromboembolism are conditions overrepresented in patients with hypercortisolism. Thus patients with chronic glucocorticoid (GC) excess may be at high risk of developing COVID-19 infection with a sever…