Search results for "INFORMATICS"
showing 10 items of 2542 documents
Genotyping of sex hormone-related pathways in benign and malignant human prostate tissues: data of a preliminary study.
2011
Prostate cancer (PCa) is a major health issue in Westernized countries, representing a common cause of morbidity and mortality in the elderly male population. Endogenous sex steroids, along with environmental factors (notably diet) and host immune and inflammatory responses, are likely to cooperate in the pathogenesis of the disease. Based on the assumption that a complex endocrine–inflammatory-immune interaction is primarily implicated in human PCa, we have investigated the interplay between sex steroids and inflammation in development and growth of human PCa. To this end, we have assessed nine functional single nucleotide polymorphisms (SNP)s of five genes involved in sex hormone-related …
No Major Host Genetic Risk Factor Contributed to A(H1N1)2009 Influenza Severity
2015
Garcia-Etxebarria, Koldo et al.
Internet Use and Self-Rated Health Among Older People: A National Survey
2009
Background Older people are among the segments of the population for which the digital divide is most persistent and are considered to be at risk of losing out on the potential benefits that the information society can provide to their quality of life. Little attention has been paid, however, to relationships between Internet use and actual indicators of health among older people. Objective The aim of this study was to examine the association between Internet use and self-rated health among older people and determine whether this association holds independently of socioeconomic position. Methods Data were from a survey about the digital divide and quality of life among older people in Spain…
Cross-species transcriptomic analysis elucidates constitutive aryl hydrocarbon receptor activity
2014
Background Research on the aryl hydrocarbon receptor (AHR) has largely focused on variations in toxic outcomes resulting from its activation by halogenated aromatic hydrocarbons. But the AHR also plays key roles in regulating pathways critical for development, and after decades of research the mechanisms underlying physiological regulation by the AHR remain poorly characterized. Previous studies identified several core genes that respond to xenobiotic AHR ligands across a broad range of species and tissues. However, only limited inferences have been made regarding its role in regulating constitutive gene activity, i.e. in the absence of exogenous ligands. To address this, we profiled transc…
Medication errors and drug knowledge gaps among critical-care nurses: a mixed multi-method study
2019
Background Medication errors are a serious and complex problem in clinical practice, especially in intensive care units whose patients can suffer potentially very serious consequences because of the critical nature of their diseases and the pharmacotherapy programs implemented in these patients. The origins of these errors discussed in the literature are wide-ranging, although far-reaching variables are of particular special interest to those involved in training nurses. The main objective of this research was to study if the level of knowledge that critical-care nurses have about the use and administration of medications is related to the most common medication errors. Methods This was a m…
Transcultural adaption and preliminary evaluation of “understanding low back pain” patient education booklet
2019
Abstract Background Low back pain (LBP) is the number one cause of disability globally. LBP is a symptom associated with biological, psychological and social factors, and serious causes for pain are very rare. Unhelpful beliefs about LBP and inappropriate imaging are common. Practitioners report pressure from patients to provide inappropriate imaging. A recently developed patient education and management booklet, ‘Understanding low back pain’, was designed to target previously identified barriers for reducing inappropriate imaging. The booklet includes evidence-based information on LBP and supports communication between patients and practitioners. Our aim was to 1) describe the translation …
Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the s…
2021
Abstract Introduction Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease due to the peripheral resistance to aldosterone. Its clinical spectrum includes neonatal salt loss syndrome with hyponatremia and hypochloraemia, hyperkalemia, metabolic acidosis and increased plasmatic levels of aldosterone. Two genetically distinct forms of disease, renal and systemic, have been described, showing a wide clinical expressivity. Mutations in the genes encoding for the subunits of the epithelial sodium channels (ENaC) are responsible for generalized PHA1. Patients’ presentation We hereby report on two Italian patients with generalized PHA1, coming from the same small town in the center of S…
Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on i…
2021
Abstract BACKGROUND Our genetic code is now readable, writable and hackable. The recent escalation of genome-wide sequencing (GS) applications in population diagnostics will not only enable the assessment of risks of transmitting well-defined monogenic disorders at preconceptional stages (i.e. carrier screening), but also facilitate identification of multifactorial genetic predispositions to sub-lethal pathologies, including those affecting reproductive fitness. Through GS, the acquisition and curation of reproductive-related findings will warrant the expansion of genetic assessment to new areas of genomic prediction of reproductive phenotypes, pharmacogenomics and molecular embryology, fur…
Multiscale Decomposition of Cardiovascular and Cardiorespiratory Information Transfer under General Anesthesia∗
2018
The analysis of short-term cardiovascular and cardiorespiratory regulation during altered conscious states, such as those induced by anesthesia, requires to employ time series analysis methods able to deal with the multivariate and multiscale nature of the observed dynamics. To meet this requirement, the present study exploits the extension to multiscale analysis of recently proposed information decomposition methods which allow to quantify, from short realizations, the amounts of joint, unique, redundant and synergistic information transferred within multivariate time series. These methods were applied to the spontaneous variability of heart period (HP), systolic arterial pressure (SAP) an…
Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case
2014
Microdeletions of 17q12 including the hepatocyte nuclear factor 1 beta (HNF1B) gene, as well as point mutations of this gene, are associated with the Renal Cysts and Diabetes syndrome (RCAD, OMIM 137920) and genitourinary alterations. Also, microdeletions encompassing HNF1B were identified as a cause of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH, OMIM 277000) in females and, recently, were associated with intellectual disability, autistic features, cerebral anomaly and facial dysmorphisms. In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual disability (ID), serious speech delay…