Search results for "Tora"
showing 10 items of 3070 documents
Large-scale screening of lipase acid deficiency in at risk population
2021
International audience; BACKGROUND: Lysosomal acid lipase deficiency (LALD, OMIM#278000) is a rare lysosomal disorder with an autosomal recessive inheritance. The main clinical manifestations are related to a progressive accumulation of cholesteryl esters, triglycerides or both within the lysosome in different organs such as the liver, spleen, and cardiovascular system. A wide range of clinical severity is associated with LALD including a severe very rare antenatal/neonatal/infantile phenotype named Wolman disease and a late-onset form named cholesteryl ester storage disease (CESD). METHODS: This study aimed to investigate a cohort of at-risk patients (4174) presenting with clinical or biol…
Papilla and pontic area regeneration in patient with gingival smile: A clinical case
2018
Purpose Connective tissue grafts are widely documented as a predictable technique for treating Miller Class I and II recessions, as well as procedures in which soft tissue augmentation is required for aesthetic reasons. This article aims to explore the resolution of a clinical case with this type of problema. Clinical case This case describes a technique for reconstructing a pontic area and adjacent papilla by means of two consecutive connective tissue grafts. The first graft served to increase the amount of tissue in the horizontal direction, and the second promoted vertical reconstruction of the defect. Results and conclusion In cases with aesthetic requirements, restorative intervention …
Enzyme replacement therapy with recombinant pro-CTSD (cathepsin D) corrects defective proteolysis and autophagy in neuronal ceroid lipofuscinosis
2019
CTSD (cathepsin D) is one of the major lysosomal proteases indispensable for the maintenance of cellular proteostasis by turning over substrates of endocytosis, phagocytosis and autophagy. Consequently, CTSD deficiency leads to a strong impairment of the lysosomal-autophagy machinery. In mice and humans CTSD dysfunction underlies the congenital variant (CLN10) of neuronal ceroid lipofuscinosis (NCL). NCLs are distinct lysosomal storage disorders (LSDs) sharing various hallmarks, namely accumulation of protein aggregates and ceroid lipofuscin leading to neurodegeneration and blindness. The most established and clinically approved approach to treat LSDs is enzyme replacement therapy (ERT) aim…
The Genetic History of Northern Europe
2017
Recent ancient DNA studies have revealed that the genetic history of modern Europeans was shaped by a series of migration and admixture events between deeply diverged groups. While these events are well described in Central and Southern Europe, genetic evidence from Northern Europe surrounding the Baltic Sea is still sparse. Here we report genome-wide DNA data from 24 ancient North Europeans ranging from ~7,500 to 200 calBCE spanning the transition from a hunter-gatherer to an agricultural lifestyle, as well as the adoption of bronze metallurgy. We show that Scandinavia was settled after the retreat of the glacial ice sheets from a southern and a northern route, and that the first Scandinav…
Oxidative stability of virgin olive oil: evaluation and prediction with an adaptive neuro-fuzzy inference system (ANFIS).
2019
Background An adaptive neuro-fuzzy inference system (ANFIS) was employed to predict the oxidative stability of virgin olive oil (VOO) during storage as a function of time, storage temperature, total polyphenol, α-tocopherol, fatty acid profile, ultraviolet (UV) extinction coefficient (K268 ), and diacylglycerols (DAGs). Results The mean total quantities of polyphenols and DAGs were 1.1 and 1.9 times lower in VOOs stored at 25 °C than in the initial samples, and the mean total quantities of polyphenols and DAGs were 1.3 and 2.26 times lower in VOOs stored at 37 °C than in the initial samples, respectively. In a single sample, α-tocopherol was reduced by between 0.52 and 0.91 times during sto…
Use of Aloe vera gel-based edible coating with natural anti-browning and anti-oxidant additives to improve post-harvest quality of fresh-cut 'Fuji' a…
2020
Recently, there is increasing use of edible and biodegradable films and packaging that are both environmentally friendly and functional for storage and market distribution. Fresh-cut &lsquo
The influence of storage conditions on flavour changes in human milk
2009
http://www.sciencedirect.com/ ; http://www.elsevier.com/; International audience; The effects of freeze-storage on human milk have been investigated with regard to sensory changes and modifications in the molecular composition of constituent odour-active volatiles. Sensory evaluation showed that fishy-metallic odour attributes are generated during storage, as are rancid-sweaty odour notes, which were described by panellists to be highly unpleasant. To monitor the dynamics of off-odour development in human milk, sensory evaluation in both orthonasal and retronasal mode was performed at defined time intervals of storage, with parallel evaluation of human milk samples that had been heated prio…
Validation of Using Smartphone Built-In Accelerometers to Estimate the Active Energy Expenditures of Full-Time Manual Wheelchair Users with Spinal Co…
2021
[EN] This study aimed to investigate the validity of using built-in smartphone accelerometers to estimate the active energy expenditures of full-time manual wheelchair users with spinal cord injury (SCI). Twenty participants with complete SCI completed 10 5-min daily activities that involved the upper limbs, during which their oxygen consumption and upper limb activity were registered using a portable gas analyzer and a smartphone (placed on the non-dominant arm), respectively. Time series of 1-min averaged oxygen consumption and 55 accelerometer variables (13 variables for each of the four axes and three additional variables for the correlations between axes) were used to estimate three mu…
Optimizing Query Perturbations to Enhance Shape Retrieval
2020
3D Shape retrieval algorithms use shape descriptors to identify shapes in a database that are the most similar to a given key shape, called the query. Many shape descriptors are known but none is perfect. Therefore, the common approach in building 3D Shape retrieval tools is to combine several descriptors with some fusion rule. This article proposes an orthogonal approach. The query is improved with a Genetic Algorithm. The latter makes evolve a population of perturbed copies of the query, called clones. The best clone is the closest to its closest shapes in the database, for a given shape descriptor. Experimental results show that improving the query also improves the precision and complet…
A Hybrid Architecture for Tiered Storage with Fuzzy Logic and AutoML
2020
The explosion of storage needs pauses a multifaceted challenge for organizations, not only it exerts a large pressure on precious resources, but also creates a sub-optimal data environment where the noise level may overwhelm the actual signal. However, despite the economies of scale achieved by major cloud platforms, the fundamental issue of storage optimization did not go away.