Search results for "Storage"
showing 10 items of 1239 documents
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome
2018
Abstract Aim Mucopolysaccharidosis type I is a lysosomal storage disorder that can result in significant disease burden, disability and premature death, if left untreated. The aim of this review was to elaborate on the diagnosis of mucopolysaccharidosis type I and the pros and cons of newborn screening. Methods An international working group was established to discuss ways to improve the early diagnosis of mucopolysaccharidosis type I. It consisted of 13 experts in paediatrics, rare diseases and inherited metabolic diseases from Europe and the Middle East. Results It is becoming increasingly clearer that the delay between symptom onset and clinical diagnosis is considerable for mucopolysacc…
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…
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…
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…
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.
Coordination nano-space as stage of hydrogen ortho–para conversion
2015
The ability to design and control properties of nano-sized space in porous coordination polymers (PCPs) would provide us with an ideal stage for fascinating physical and chemical phenomena. We found an interconversion of nuclear-spin isomers for hydrogen molecule H 2 adsorbed in a Hofmann-type PCP, {Fe(pz)[Pd(CN) 4 ]} (pz=pyrazine), by the temperature dependence of Raman spectra. The ortho (o)–para (p) conversion process of H 2 is forbidden for an isolated molecule. The charge density study using synchrotron radiation X-ray diffraction reveals the electric field generated in coordination nano-space. The present results corroborate similar findings observed on different systems and confirm …
STUDIES OF THE POSSIBILITIES TO USE OZONE FOR THE GRAIN STORAGE
2021
The financial support of Rural Support Service Project No l8–00–A01620–000003 "Technology development of grain drying with active ventilation using ozone" is greatly acknowledged. The authors thank Dr.sc.ing. Aivars Cesnieks and Ing. Sandris Cesnieks, representatives of the farm “Mazkalnini”, Tervetes region, Tervete district, Latvia for the support and active cooperation.