Search results for "screening"

A novel approach to CFTR mutation testing by pyrosequencing-based assay panels adapted to ethnicities.

2009

Abstract Background: Cystic fibrosis (CF) is a common autosomal recessive genetic disorder caused by a variety of sequence alterations in the CFTR gene [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)]. Because the relative prevalence of mutations strongly depends on the ethnic background, first-level testing of CF as defined by recent consensus recommendations ought to be adaptable to the ethnicity of patients. Methods: We therefore developed and implemented a diagnostic approach to first-level testing for CF based on published mutation frequencies and Pyrosequencing (PSQ) technology that we complemented with standard procedures of mutation…

Screening for microdeletions of the X-chromosome in non-specific mental retardation

2003

Abnormal mitotic spindle assembly and cytokinesis induced by D-Limonene in cultured mammalian cells

2013

D-Limonene is found widely in citrus and many other plant species; it is a major constituent of many essential oils and is used as a solvent for commercial purposes. With the discovery of its chemotherapeutic properties against cancer, it is important to investigate the biological effects of the exposure to D-Limonene and elucidate its, as yet unknown, mechanism of action. We reported here that D-Limonene is toxic in V79 Chinese hamster cells in a dose-dependent manner. Moreover, to determine the cellular target of D-Limonene, we performed morphological observations and immunocytochemical analysis and we showed that this drug has a direct effect on dividing cells preventing assembly of mito…

Genome search in celiac disease.

1998

SummaryCeliac disease (CD), a malabsorption disorder of the small intestine, results from ingestion of gluten. The HLA risk factors involved in CD are well known but do not explain the entire genetic susceptibility. To determine the localization of other genetic risk factors, a systematic screening of the genome has been undertaken. The typing information of 281 markers on 110 affected sib pairs and their parents was used to test linkage. Systematic linkage analysis was first performed on 39 pairs in which both sibs had a symptomatic form of CD. Replication of the regions of interest was then carried out on 71 pairs in which one sib had a symptomatic form and the other a silent form of CD. …

Epidemiological study of nonsyndromic hearing loss in Sicilian newborns

2007

Deafness is caused by a variety of facts, genetic and environmental. Regarding the acquired causes, deafness can be the consequence of prenatal infections, acoustic or cerebral trauma, and the use of ototoxic drugs. Deafness can be the only manifestation (nonsyndromic forms) or it may occur together with other phenotypic findings (syndromic forms). The majority of nonsyndromicdeafness has a genetic basis [Van Camp et al., 1997]. In recent years, deafness and hearing loss have assumed a clinical importance in the study of congenital disorders [Morton et al., 1991]. The clinical interest for hearing loss is supported by the social impact that this disorder has; if not treated, delays in the d…

Expanding the application of stir bar sorptive-dispersive microextraction approach to solid matrices: Determination of ultraviolet filters in coastal…

2018

This work describes a new method for the determination of organic compounds in solid samples based on the equilibrium desorption of the analytes in an aqueous phase followed by stir bar sorptive-dispersive microextraction (SBSDME). Sand samples, contaminated with UV filters due to bathing and recreational activities, were dispersed in an aqueous medium by using a coated stir bar with CoFe2O4@oleic acid magnetic nanoparticles. The UV filters were physically desorbed from the surface of the sand particles and rapidly adsorbed on the hydrophobic coating of the nanoparticles, which were retrieved by means of their magnetism after stopping the stirring. In this manner, both preconcentration of t…

Predicting risk and outcomes for frail older adults: an umbrella review of frailty screening tools

2017

EXECUTIVE SUMMARY Background A scoping search identified systematic reviews on diagnostic accuracy and predictive ability of frailty measures in older adults. In most cases, research was confined to specific assessment measures related to a specific clinical model. Objectives To summarize the best available evidence from systematic reviews in relation to reliability, validity, diagnostic accuracy and predictive ability of frailty measures in older adults. Inclusion criteria Population Older adults aged 60 years or older recruited from community, primary care, long-term residential care and hospitals. Index test Available frailty measures in older adults. Reference test Cardiovascular Health…

Quality of Life and Resilience of Patients With Juvenile Stroke: A Systematic Review.

2020

Abstract Background The incidence of juvenile stroke is increasing. Considering younger age of patients and the potential long-lasting disability, the consequences of juvenile stroke may have a greater societal impact than those of stroke in elder population. Methods A systematic review was performed in order to evaluate quality of life in juvenile stroke. All studies on quality of life in juvenile stroke published in PUBMED before March 1st, 2020. The search terms were “stroke”, “juvenile”, “young”, “adult”, “quality of life” and “resilience” were considered. After the abstract evaluation of 748 hits only six studies we identified as appropriate for the review. The age criterion for juveni…

Effectiveness of patient-targeted interventions to promote cancer screening among ethnic minorities: A systematic review

2016

Abstract Background Cancer is a major public health problem due to its incidence, morbidity and mortality. A large proportion of cancer cases and deaths could be prevented through the implementation of cancer screening programmes. However, there are social inequalities in patient access to these programmes, especially in underserved communities and minority populations. Objective To identify, characterise and analyse the effectiveness of patient-targeted healthcare interventions to promote cancer screening programmes in ethnic minorities. Methods A comprehensive search of bibliographic databases was conducted. The results of our systematic review were reported in accordance with the PRISMA …

Nutritional screening of older home-dwelling Norwegians: a comparison between two instruments.

2012

Ulrika Söderhamn, Bjørg Dale, Kari Sundsli, Olle SöderhamnCentre for Caring Research-Southern Norway, Faculty of Health and Sport Sciences, University of Agder, Grimstad, NorwayBackground: It is important to obtain knowledge about the prevalence of nutritional risk and associated factors among older home-dwelling people in order to be able to meet nutritional challenges in this group in the future and to plan appropriate interventions. The aim of this survey was to investigate the prevalence of home-dwelling older people at nutritional risk and to identify associated factors using two different nutritional screening instruments as self-report instruments.Methods…