Search results for "Ic testing"
showing 10 items of 283 documents
Psychometric testing of the Norwegian version of the Nutritional Form For the Elderly among older home-dwelling people
2012
Ulrika Söderhamn, Bjørg Dale, Kari Sundsli, Solveig T Tomstad, Olle SöderhamnCenter for Caring Research, Southern Norway, Faculty of Health and Sport Sciences, University of Agder, Grimstad, NorwayBackground: Nutritional screening instruments need to be evaluated in terms of reliability and validity and being able to demonstrate sensitivity and specificity for use in clinical practice and research. The aims of this study were to test the reliability and validity of the Norwegian version of the Nutritional Form For the Elderly (NUFFE-NO) in a sample of older home-dwelling people, and to use the short form of the Mini Nutritional Assessment (MNA-SF) as a standard.…
Bond characterization of monolithic and layered glass panels and ultrasonic tests to control glued surfaces
2019
Abstract An experimental investigation is presented regarding the compressive and shear strength of monolithic and PVB laminated glass elements connected by acrylic glue. Ultrasonic tests were also used to control the efficiency of glued surfaces of glass panels. Twenty-four triplets composed of three float glass elements glued with acrylic adhesive were prepared to perform bond tests. Of these twelve triplets were made with monolithic glass elements with a nominal thickness of 20 mm, while twelve were made with layered glass elements 20 mm thick. Three single elements of monolithic glass and three of layered glass were tested for compressive strength. Ultrasonic tests were performed on a s…
Global–local model for three-dimensional guided wave scattering with application to rail flaw detection
2021
This study presents a three-dimensional global–local formulation for the prediction of guided wave scattering from discontinuities (e.g. defects). The approach chosen utilizes the Semi-Analytical Finite Element method for the “global” portion of the waveguide, and a full Finite Element discretization for the “local” portion of the waveguide containing the discontinuity. The application of interest is the study of guided wave scattering from transverse head defects in rails. Theoretical scattering results are impossible to obtain in this case for a wide-frequency range. While three-dimensional Semi-Analytical Finite Element–Finite Element models for guided wave scattering studies have been …
Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syn…
2007
The Usher syndrome (USH) is an autosomal recessive hereditary disorder characterized by the association of sensorineural hearing loss, retinitis pigmentosa (RP) and, in some cases, vestibular dysfunction. The USH1G gene, encoding SANS, has been found to cause both Usher syndrome type I and atypical Usher syndrome. 109 Spanish unrelated patients suffering from Usher syndrome type I, type II, type III and unclassified Usher syndrome were screened for mutations in this gene, but only eight different changes without a clear pathogenic effect have been detected. Based on these results as well as previous studies in other populations where mutational analysis of this gene has been carried out, on…
Genetic syndrome suspicion: examples of clinical approach in the neonatal unit.
2010
Overgrowth syndromes: the practical clinical approach. Excessive growth can be present in a variety of medical conditions as result of abnormal fetal metabolism (i.e., maternal gestational diabetes) or of an overgrowth syndrome. Within this latter group of diseases, a LGA newborn requires a complex differential diagnosis encompassing several syndromes, such as Beckwith-Wiedemman, Sotos, Weaver, Simpson-Golabi-Behmel, Perlman, and Bannayan-Riley-Ruvalcaba. Partial or global overgrowth, other dysmorphisms, abdominal organs anomalies, as well as benign and malignant tumors are the common issues to examine for the diagnosis and the monitoring of all these disorders. The molecular bases of these…
Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots.
2008
Item does not contain fulltext Mutations in NIPA1 cause hereditary spastic paraplegia type 6 (SPG6 HSP). Sequencing of the whole gene has revealed alterations of either of two nucleotides in eight of nine SPG6 HSP families reported to date. By analysing CpG methylation, we provide a mechanistic explanation for a mutational hotspot to underlie frequent alteration of one of these nucleotides. We also developed PCR RFLP assays to detect recurrent NIPA1 changes and screened 101 independent HSP patients, including 45 index patients of autosomal dominant HSP families. Our negative finding in this cohort for which several other causes of HSP had been excluded suggests NIPA1 alterations at mutation…
Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein…
2013
Rubinstein-Taybi syndrome is a rare autosomal dominant congenital disorder characterized by postnatal growth retardation, psychomotor developmental delay, skeletal anomalies, peculiar facial morphology, and tumorigenesis. Mutations in the gene encoding the cAMP response element-binding protein (CREB, also known as CREBBP or CBP) on chromosome 16p13.3 have been identified. In addition, some patients with low intelligence quotients and autistic features bear large deletions. Based on these observations, we used multiplex ligation-dependent probe amplification to search for large deletions affecting the CREBBP gene in a Rubinstein-Taybi syndrome patient. We identified a novel heterozygote dele…
Carrier screening for spinal muscular atrophy in Italian population
2014
Spinal muscular atrophy (SMA) is an autosomal-recessive neuromuscular disorder characterized by motor neuron degeneration in the anterior horn of the spinal cord and brain stem, resulting in progressive muscle weakness and atrophy. The responsible survival motor neuron gene (SMN1; HGNC: 11117) is localized in 5q11.2-13.3. Screening for carriers of SMA is necessary for effective clinical/prenatal diagnosis and genetic counselling. In this study, the copy number of SMN1 gene was determined from a southern Italian population to estimate carrier frequency. This is the first report addressing the estimation of SMA carrier frequency in an Italian population. Our results show that the SMA carrier …
Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy
2006
UNLABELLED Fatal infantile cardioencephalomyopathy (OMIM No. 604377) is a disorder of the mitochondrial respiratory chain and is characterised by neonatal progressive muscular hypotonia and cardiomyopathy because of severe Cytochrome c oxidase deficiency. Here we report a novel mutation in the Cytochrome c oxidase assembly gene SCO2 in an infant with fatal infantile cardioencephalomyopathy despite normal initial metabolic screening. CONCLUSION In newborns with unexplained muscular hypotonia and cardiomyopathy genetic testing of mitochondrial respiratory chain disorders might be helpful to establish a final diagnosis and guide treatment decisions.
Neutron-Induced Effects on a Self-Refresh DRAM
2022
International audience; The field of radiation effects in electronics research includes unknowns for every new device, node size, and technical development. In this study, static and dynamic test methods were used to define the response of a self-refresh DRAM under neutron irradiation. The neutron-induced effects were investigated and characterised by event cross sections, soft-error rate, and bitmaps evaluations, leading to an identification of permanent and temporary stuck cells, single-bit upsets, and block errors. Block errors were identified in different patterns with dependency in the addressing order, leading to up to two thousand faulty words per event, representing a real threat fr…