Search results for "Variations"
showing 10 items of 129 documents
Strain-gradient elastic-plastic material models and assessment of the higher order boundary conditions
2007
Abstract A gradient elastic material model exhibiting gradient kinematic and isotropic hardening is addressed within a thermodynamic framework suitable to cope with nonlocal-type continua. The Clausius–Duhem inequality is used, in conjunction with the concepts of energy residual, insulation condition and locality recovery condition, to derive all the pertinent restrictions upon the constitutive equations, including the PDEs and the related higher order (HO) boundary conditions that govern the gradient material behaviour. Through a suitable limiting procedure, the HO boundary conditions are shown to interpret the action, upon the body's boundary surface, of idealized extra HO constraints cap…
Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: An international consensus statement
2018
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management …
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
2012
International audience; The 2q37 locus is one of the most commonly deleted subtelomeric regions. Such a deletion has been identified in >100 patients by telomeric fluorescence in situ hybridization (FISH) analysis and, less frequently, by array-based comparative genomic hybridization (array-CGH). A recognizable ‘2q37-deletion syndrome’ or Albright’s hereditary osteodystrophy-like syndrome has been previously described. To better map the deletion and further refine this deletional syndrome, we formed a collaboration with the Association of French Language Cytogeneticists to collect 14 new intellectually deficient patients with a distal or interstitial 2q37 deletion characterized by FISH and …
Genomic Amplifications and Distal 6q Loss: Novel Markers for Poor Survival in High-risk Neuroblastoma Patients.
2018
Abstract Background Neuroblastoma is characterized by substantial clinical heterogeneity. Despite intensive treatment, the survival rates of high-risk neuroblastoma patients are still disappointingly low. Somatic chromosomal copy number aberrations have been shown to be associated with patient outcome, particularly in low- and intermediate-risk neuroblastoma patients. To improve outcome prediction in high-risk neuroblastoma, we aimed to design a prognostic classification method based on copy number aberrations. Methods In an international collaboration, normalized high-resolution DNA copy number data (arrayCGH and SNP arrays) from 556 high-risk neuroblastomas obtained at diagnosis were coll…
Profiles and seasonal distribution of airborne fungi in indoor and outdoor environments at a French hospital
2009
International audience; A one-year prospective survey of fungal air contamination was conducted in outdoor air and inside two haematological units of a French hospital. Air was sampled with a portable Air System Impactor. During this period of survey, the mean viable fungal load was 122.1 cfu/m(3) in outdoor air samples, and 4.1 and 3.9 cfu/m(3) in samples from adult and pediatric haematology units, respectively. In outdoor samples, Cladosporium was the dominant genus (55%) while in the clinical units, Penicillium sp. (23 to 25%), Aspergillus sp. (15 to 23%) and Bjerkandera adusta (11 to 13%) were the most frequently recovered airborne fungi. The outdoor fungal load was far higher in autumn…
Multiplex Amplicon Quantification (MAQ), a fast and efficient method for the simultaneous detection of copy number alterations in neuroblastoma
2010
Abstract Background Cancer genomes display characteristic patterns of chromosomal imbalances, often with diagnostic and prognostic relevance. Therefore assays for genome-wide copy number screening and simultaneous detection of copy number alterations in specific chromosomal regions are of increasing importance in the diagnostic work-up of tumors. Results We tested the performance of Multiplex Amplicon Quantification, a newly developed low-cost, closed-tube and high-throughput PCR-based technique for detection of copy number alterations in regions with prognostic relevance for neuroblastoma. Comparison with array CGH and the established Multiplex Ligation-dependent Probe Amplification method…
Trattamento endodontico di un incisivo centrale calcificato
2011
RiassuntoObiettiviDescrivere il trattamento endodontico di un incisivo centrale con due canali e caratterizzato da estese calcificazioni, mostrando come sia possibile affrontare e come possa essere complicato reperire un’anatomia complessa e senza riferimenti.Materiali e metodiTalvolta un radiogramma non è sufficiente a indirizzarci verso la soluzione di casi complessi, perché anche un’attenta analisi, in caso di estese calcificazioni, può essere insufficiente a interpretare correttamente l’anatomia canalare. È quindi indispensabile verificare clinicamente le condizioni dell’elemento dentale, se possibile avvalendosi di un microscopio che, grazie al forte fattore di ingrandimento, permette …
Genome-wide association study between CNVs and milk production traits in Valle del Belice sheep.
2019
Copy number variation (CNV) is a major source of genomic structural variation. The aim of this study was to detect genomic CNV regions (CNVR) in Valle del Belice dairy sheep population and to identify those affecting milk production traits. The GO analysis identified possible candidate genes and pathways related to the selected traits. We identified CNVs in 416 individuals genotyped using the Illumina OvineSNP50 BeadChip array. The CNV association using a correlation-trend test model was examined with the Golden Helix SVS 8.7.0 tool. Significant CNVs were detected when their adjusted p-value was <0.01 after false discovery rate (FDR) correction. We identified 7,208 CNVs, which gave 365 C…
Gestion du pâturage au printemps en système bovin allaitant : diversité des pratiques en Saône-et-Loire
2009
National audience; Grazed grass is the cheapest forage for making meat'. In order to incite farmers to make their forage systems more self-sufficient and thrifty, the 'Chambre d'Agriculture de Saone-et-Loire' (a professional agricultural organization for that departement) has been monitoring for five years the management of spring grazing on 23 farms. The analysis of farmers' practices lead to considerations as to put to the best use the grazed grass, according to the pedo-climatic conditions and the constraints of the farms. With the aim of optimizing the pasture resources in order to limit the purchase of concentrates and to cope with the climatic hazards, the study of the management of s…
Values and subjective well-being
2018
Research on relations of personal values to subjective well-being has begun to flourish only recently. This is surprising because our values represent what we consider important and worth pursuing in life, and our subjective well-being (henceforth SWB) represents how happy and satisfied we are with the life we are leading. This chapter summarizes what we know about value—SWB relations and identifies some of what we do not know but would like to know. We first discuss the nature of values and the structured system they form. We then note three theoretical perspectives on relations of values to SWB (Sagiv & Schwartz, 2000; Sagiv, Roccas & Hazan, 2004). The first perspective seeks to explain d…