Search results for "orage"
showing 10 items of 1343 documents
The Role of Next-Generation Sequencing in the Diagnosis of Lysosomal Storage Disorders
2016
Next-generation sequencing (NGS) panels are used widely in clinical diagnostics to identify genetic causes of various monogenic disease groups including neurometabolic disorders and, more recently, lysosomal storage disorders (LSDs). Many new challenges have been introduced through these new technologies, both at the laboratory level and at the bioinformatics level, with consequences including new requirements for interpretation of results, and for genetic counseling. We review some recent examples of the application of NGS technologies, with purely diagnostic and with both diagnostic and research aims, for establishing a rapid genetic diagnosis in LSDs. Given that NGS can be applied in a w…
CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges.
2020
During the past decades, several therapeutic approaches have been developed and made rapidly available for many patients afflicted with lysosomal storage disorders (LSDs), inborn organelle disorders with broad clinical manifestations secondary to the progressive accumulation of undegraded macromolecules within lysosomes. These conditions are individually rare, but, collectively, their incidence ranges from 1 in 2,315 to 7,700 live-births. Most LSDs are manifested by neurological symptoms or signs, including developmental delay, seizures, acroparesthesia, motor weakness, and extrapyramidal signs. The chronic and later-onset clinical forms are at one end of the continuum spectrum and are char…
Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)
2018
Abstract Background Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, results from mutations in SMPD1, the gene encoding acid sphingomyelinase (ASM). As a result, sphingomyelin accumulates in multiple organs including spleen, liver, lung, bone marrow, lymph nodes, and in the most severe form, in the CNS and peripheral nerves. Clinical manifestations range from rapidly progressive and fatal infantile neurovisceral disease, to less rapidly progressing chronic neurovisceral and visceral forms that are associated with significant morbidity and shorter life span due to respiratory or liver disease. Objectives To provide a contemporary guide of clinical assessments for di…
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…