Search results for "testing."
showing 10 items of 1654 documents
Identification of Novel Wsf1 Mutations in a Sicilian Child with Wolfram Syndrome
2014
Wolfram Syndrome (WS) is a rare hereditary disease with autosomal recessive inheritance with incomplete penetrance. It is characterized by diabetes mellitus associated with progressive optic atrophy. The diagnosis is essentially clinical and mutation analysis is used to confirm the diagnosis. In the present study we describe the clinical and molecular features of a diabetic child carrying two novel WFS1 mutations. The Sicilian proband and his non-affected family were studied. Ophthalmologic examination included: visual acuity determination and funduscopy, optical coherent tomography, retinal fluorangiography, perimetry and electroretinogram. Molecular methods: automatic sequencing of PCR am…
Novel <b><i>VANGL1</i></b> Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects
2012
Neural tube defects (NTDs) are a group of congenital malformations of the central nervous system occurring at an average rate of 1 per 1,000 human pregnancies worldwide. Numerous genetic and environmental factors are discussed to be relevant in their etiology. In mice, mutants in >200 genes including the planar cell polarity (PCP) pathway are known to cause NTDs, and recently, heterozygous mutations in the human <i>VANGL1</i> gene have been described in a small subset of patients with NTDs. We performed a <i>VANGL1</i> mutation analysis in 144 unrelated individuals with NTDs from Slovakia, Romania and Germany and identified 3 heterozygous missense mutations: c.613…
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…
openSNP–A Crowdsourced Web Resource for Personal Genomics
2014
Genome-Wide Association Studies are widely used to correlate phenotypic traits with genetic variants. These studies usually compare the genetic variation between two groups to single out certain Single Nucleotide Polymorphisms (SNPs) that are linked to a phenotypic variation in one of the groups. However, it is necessary to have a large enough sample size to find statistically significant correlations. Direct-To-Consumer (DTC) genetic testing can supply additional data: DTC-companies offer the analysis of a large amount of SNPs for an individual at low cost without the need to consult a physician or geneticist. Over 100,000 people have already been genotyped through Direct-To-Consumer genet…
Toxicity Testing of Silver Nanoparticles in Artificial and Natural Sediments Using the Benthic Organism Lumbriculus variegatus
2016
The increased use of silver nanoparticles (AgNP) in industrial and consumer products worldwide has resulted in their release to aquatic environments. Previous studies have mainly focused on the effects of AgNP on pelagic species, whereas few studies have assessed the risks to benthic invertebrates despite the fact that the sediments act as a large potential sink for NPs. In this study, the toxicity of sediment-associated AgNP was evaluated using the standard sediment toxicity test for chemicals provided by the Organization of Economic Cooperation and Development. The freshwater benthic oligochaete worm Lumbriculus variegatus was exposed to sediment-associated AgNP in artificial and natural …
Attitudes Among Patients With Advanced Cancer Toward Euthanasia and Living Wills
2015
Euthanasia has been invariably discussed throughout Europe. In some countries, euthanasia has been legalized under specific conditions that must be fulfilled. These include a properly reported request to be considered carefully, unbearable suffering, no other reasonable alternatives, and a consultation with an independent physician. A living will, also called an advance directive, is a written document that allows a patient to give explicit instructions about medical treatments to be administered when the patient is terminally ill and unable to communicate. In Italy, euthanasia remains illegal, and living wills are not used. These issues have been the subject of constant debate.2 Such discu…
Testing reliability and validity of Lorensen’s Self-care Capability Scale (LSCS) among older home-living, care-dependent individuals in Norway
2012
dale b., saevareid h. i., soderhamn o. (2013) Testing reliability and validity of Lorensen’s Self-care Capability Scale (LSCS) among older home-living, care-dependent individuals in Norway. International Journal of Older People Nursing 8, 166–173 doi: 10.1111/j.1748-3743.2012.00339.x Aim and objective. The aim of this study was to test reliability and validity of the Lorensen’s Self-Care Capability Scale (LSCS). Background. The assessment of self-care capability among older people living at home is essential for maintaining independence for as long as possible. Method. The study sample consisted of 242 home nursing patients who were 75 + years old and living at home. The responsible home…
Validez factorial de la adaptación al español del Maslach Burnout Inventory-General Survey
2002
Objective. To explore the factorial structure of a Spanish version of the “Maslach Burnout Inventory-General Survey” (MBI-GS). Material and Methods. A cross-sectional study was conducted in 1999 among 149 municipal policemen in Tenerife, Spain. A questionnaire was applied to collect data on Professional Efficacy, Cynicism, and Burnout. Data were analyzed using factorial analysis and principal components with Varimax rotation. Results. Four factors had eigenvalues greater than 1; Factor 1 gouped Professional Efficacy items, Factor II grouped three Cynicism items. Further analysis was conducted to limit extraction to three factors. The factorial solution replicated the distribution of items i…
COVID-19 psychological impact in 3109 healthcare workers in Spain: The PSIMCOV group
2020
AbstractBackgroundThe current coronavirus disease (COVID-19) has a great impact worldwide. Healthcare workers play an essential role and are one of the most exposed groups. Information about the psychosocial impact on healthcare workers is limited.Methods3109 healthcare workers completed a national, internet-based, cross-sectional 45-item survey between 9 and 19 April 2020. The objective is to assess the psychological impact of the COVID-19 pandemic in Spanish healthcare workers. A Psychological Stress and Adaptation at work Score (PSAS) was defined combining four modified versions of validated psychological assessment tests (A) Healthcare Stressful Test, (B) Coping Strategies Inventory, (C…