Search results for "Pathology"

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

2012

Objective: Description of 8 new ANO5 mutations and significant expansion of the clinical phenotype spectrum associated with previously known and unknown mutations to improve diagnostic accuracy. Methods: DNA samples of 101 patients in 95 kindreds at our quaternary referral center in Finland, who had undetermined limb-girdle muscular dystrophy (LGMD), calf distal myopathy, or creatine kinase (CK) elevations of more than 2,000 IU/L, were selected for ANO5 genetic evaluation, and the clinical findings of patients with mutations were retrospectively analyzed. Results: A total of 25 patients with muscular dystrophy caused by 11 different recessive mutations in the ANO5 gene were identified. The …

The pain threshold of high-threshold mechanosensitive receptors subsequent to maximal eccentric exercise is a potential marker in the prediction of D…

2017

Background Delayed-onset muscle soreness (DOMS) refers to dull pain and discomfort in people after participating in exercise, sport or recreational physical activities. The aim of this study was to detect underlying mechanical thresholds in an experimental model of DOMS. Methods Randomised study to detect mechanical pain thresholds in a randomised order following experimentally induced DOMS of the non-dominant arm in healthy participants. Main outcome was the detection of the pressure pain threshold (PPT), secondary thresholds included mechanical detection (MDT) and pain thresholds (MPT), pain intensity, pain perceptions and the maximum isometric voluntary force (MIVF). Results Twenty volun…

Prévenir et réduire les risques de sélection de résistances : de la théorie à la pratique, des pistes pour améliorer la durabilité des PPP

2015

SPEPôle GEAPSICT2communication orale invitée, résumé; La résistance est le résultat inéluctable de la sélection exercée par les PPP sur les populations de bio-agresseurs. On ne peut pas empêcher une résistance d’évoluer, mais on peut retarder substantiellement son évolution en mettant en place des stratégies appropriées avant (prévention) et après (gestion) la détection des premiers individus résistants. Le point-clef à retenir pour cela est que plus le contrôle d’un bio-agresseur est basé sur une chimie peu diversifiée, plus le risque de sélectionner rapidement une résistance est élevé. Un exemple type de ce qu’il ne faut pas faire est de contrôler un bio-agresseur présent sur de grandes s…

Paradigma pragmático-funcional en la rehabilitación de la afasia

2020

Durante las últimas dos décadas, la investigación sobre la rehabilitación de la afasia ha desarrollado una visión pragmática y funcional del lenguaje, lo que ha llevado a una orientación cada vez más multifacética del trabajo terapéutico. En este enfoque pragmático-funcional de la rehabilitación de la afasia convergen diferentes programas concebidos de forma independiente, centrando la terapia en la dimensión relacional del lenguaje, que incluye: las interrelaciones funcionales entre los componentes del sistema lingüístico; la función comunicativa y el uso del lenguaje en contextos naturales como las conversaciones cotidianas; las interrelaciones entre el comportamiento verbal y otros medio…

Rare localization of low grade fibromyxoid sarcoma to the nail region.

2005

Identification and quantification of phosphatidylcholines containing very long chain polyunsaturated fatty acid (VLC-PUFA) in bovine and human retina…

2010

The retina is one of the vertebrate tissues with the highest content in polyunsaturated fatty acids (PUFA). A large proportion of the retinal glycerophospholipids, especially those found in photoreceptor membranes, are dipolyunsaturated molecular species. Among them, dipolyunsaturated phosphatidylcholine molecular species are known to contain very long chain polyunsaturated fatty acids (VLC-PUFA) from the n-3 and n-6 series and having 24 to 36 carbon atoms (C24 to C36) and four to six double bonds. Recent interest in the role of VLC-PUFA arose from the findings that a protein named ELOngation of Very Long chain fatty acids 4 (ELOVL4) is involved in their biosynthesis and that mutations in E…

Development of taste preferences in early life

2017

International audience

Overweight children display enhanced reward responses to food-related pictures and odours

2012

Overweight children display enhanced reward responses to food-related pictures and odours. 19. European congress on obesity (ECO)

The corticotrophin-releasing factor/urocortin system regulates white fat browning in mice through paracrine mechanisms.

2015

Objectives:\ud The corticotrophin-releasing factor (CRF)/urocortin system is expressed in the adipose tissue of mammals, but its functional role in this tissue remains unknown.\ud \ud Methods:\ud Pharmacological manipulation of the activity of CRF receptors, CRF1 and CRF2, was performed in 3T3L1 white pre-adipocytes and T37i brown pre-adipocytes during in vitro differentiation. The expression of genes of the CRF/urocortin system and of markers of white and brown adipocytes was evaluated along with mitochondrial biogenesis and cellular oxygen consumption. Metabolic evaluation of corticosterone-deficient or supplemented Crhr1-null (Crhr1−/−) mice and their wild-type controls was performed alo…

Toward a link between brain plasticity and satiety

2021

International audience