Search results for "orage"
showing 10 items of 1343 documents
AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvement.
2020
Lysosomal storage diseases (LSDs) are a heterogeneous group of inherited disorders caused by loss-of-function mutations in genes encoding for lysosomal enzymes/proteins. The consequence is a progressive accumulation of substrates in these intracellular organelles, resulting in cellular and tissue damage. The overall incidence is about 1/8000 live births, but is likely underestimated. LSDs are chronic progressive multi-systemic disorders, generally presenting with visceromegaly, and involvement of the central nervous system, eyes, the skeleton, and the respiratory and cardiovascular systems. The age at onset and phenotypic expression are highly variable, according to the specific enzymatic d…
Mutation analysis in myophosphorylase deficiency (McArdle's disease).
1998
Inherited deficiency of myophosphorylase leads to glycogen storage disease type V (McArdle's disease). We performed mutation analysis in 9 patients of eight unrelated families from Germany with typical cliniclal presentation of myophos-phorylase deficiency. Beside previously described mutations we identified four novel mutations in the myophorsphorylase gene. Four patients were homozygous for a nonsense mutation Arg49Stop that has been reported to be the most common mutation in white patients. Two affected siblings were compound heterozygotes for a novel missense mutation Gly685Arg and the nonsense mutation Arg49Stop. One patient carried a novel nonsense mutation Arg575Stop and a previously…
Encoding, storage, and response preparation-Distinct EEG correlates of stimulus and action representations in working memory.
2019
Working memory (WM) allows for the active storage of stimulus- and higher level representations, such as action plans. This electroencephalography (EEG) study investigated the specific electrophysiological correlates dissociating action-related from stimulus-related representations in WM using three different experimental conditions based on the same stimulus material. In the experiment, a random sequence of single numbers (from 1 to 6) was presented and participants had to indicate whether the current number (N0 condition), the preceding number (N-1 condition), or the sum of the current and the preceding number (S-1 condition) was odd or even. Accordingly, participants had to store a stimu…
Comparison of Methods for the Assessment of Nonlinearity in Short-Term Heart Rate Variability under different Physiopathological States
2019
Despite the widespread diffusion of nonlinear methods for heart rate variability (HRV) analysis, the presence and the extent to which nonlinear dynamics contribute to short-term HRV are still controversial. This work aims at testing the hypothesis that different types of nonlinearity can be observed in HRV depending on the method adopted and on the physiopathological state. Two entropy-based measures of time series complexity (normalized complexity index, NCI) and regularity (information storage, IS), and a measure quantifying deviations from linear correlations in a time series (Gaussian linear contrast, GLC), are applied to short HRV recordings obtained in young (Y) and old (O) healthy su…
Mycotoxin Dietary Exposure Assessment through Fruit Juices Consumption in Children and Adult Population
2019
Consumption of fruit juice is becoming trendy for consumers seeking freshness and high vitamin and low caloric intake. Mycotoxigenic moulds may infect fruits during crop growth, harvest, and storage leading to mycotoxin production. Many mycotoxins are resistant to food processing, which make their presence in the final juice product very likely expected. In this way, the presence of 30 mycotoxins including aflatoxin B1 (AFB1), aflatoxin B2 (AFB2), aflatoxin G1 (AFG1), aflatoxin G2 (AFG2), alternariol (AOH), alternariol monomethyl ether (AME), Ochratoxin A (OTA), fumonisin B1 (FB1), fumonisin B2 (FB2), enniatin A (ENNA), enniatin A1 (ENNA1), enniatin B (ENNB), enniatin B1 (ENNB1), beauverici…
Anatomic site evaluation of the palatal bone for temporary orthodontic anchorage devices.
2008
: Objectives: The aim of the present study was to assess the micromorphologic characteristics of the palatal bone from an implantologic standpoint. Materials and Methods: The material consisted of tissue blocks of autopsy material from 22 subjects (18 males, three females) between 18 and 63 years of age. The specimens comprised the anterior median palatal region from 5 to 10 mm behind the incisive foramen. They were prepared in the transversal plane according to ground thin-section technology. The midpalatal area as well as an area of 3 mm bilateral to the midline were assessed, and a classification of quantitative palatal bone availability was developed. Results: The findings could be divi…
Bone quality in the midpalate for temporary anchorage devices.
2009
Objective The aim of the present study was to quantitatively assess the bone quality of the palatal bone from an implantologic standpoint. Material and methods The material consisted of palatal tissue blocks of autopsy material from 22 subjects (19 male, three female), between 18 and 63 years of age. The specimens comprised the anterior part of median palate (APMP) from about 7 mm behind the incisive foramen (first premolar regions), the middle part of median palate (MPMP, second premolar region), and the posterior part of the median palate (PPMP, first molar region). They were prepared in the transversal plane using ground-thin-section technology. The midpalatal areas of the different part…
Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes.
2002
Anderson-Fabry disease is a rare, X-chromosomal lipid storage disorder caused by a deficiency of lysosomal alpha-galactosidase A. Clinical manifestations of Anderson-Fabry disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson-Fabry disease. This rev…
Basilar Artery Diameter Is a Potential Screening Tool for Fabry Disease in Young Stroke Patients
2010
<i>Background:</i> Fabry disease (FD) is a rare hereditary lysosomal storage disease that has been highlighted as a possible etiology of stroke at a young age. Enlarged basilar artery diameters (BADs) have been demonstrated in FD, and we hypothesize that they might be useful for the screening of FD in young stroke patients. The aim of this study was to compare BADs of young stroke patients without FD to those of FD patients and of healthy age-matched controls. <i>Methods:</i> BADs were measured using MR angiography in 3 age- and gender-matched groups: 25 FD patients (aged 36.5 ± 11.0 years), 26 non-FD stroke patients and 20 healthy controls. <i>Results:</i&g…
Association between nutritional values of hays fed to horses and sensory properties as perceived by human sight, touch and smell
2019
International audience; Although hay is the foundation of most equine diets, horse owners rarely ask for biochemical analysis and the routine practice is to choose hay based on its 'perceived' nutritional value. The present study aimed at exploring the relationship between sensory properties as perceived by sight, touch and smell, and the nutritional value of hay measured by biochemical analysis using a 'free sorting task' method. Fifty-four non-expert participants were asked individually to: (1) observe 21 hays samples, (2) group together hays that they perceived as similar for each of the three modalities (hay appearance, odour or texture) and (3) characterize each formed group with a max…