Search results for " type C"
showing 10 items of 28 documents
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry
2017
Objectives: Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease that should be recognised by psychiatrists as a possible underlying cause of psychiatric abnormalities. This...
Transformation of raw ewes' milk applying “Grana” type pressed cheese technology: development of extra-hard “Gran Ovino” cheese
2019
Abstract This work was carried out to pursue a double objective: to improve the hygienic safety of cheeses produced from raw ewes' milk; and to produce a new typology of raw ewes' milk through the application of “Grana” technology for which the name “Gran Ovino” was chosen. With this in mind, raw milk from an individual farm was transformed under controlled conditions at a dairy pilot plant. The production technology included the partial skimming of the evening and morning milk mixture by cream surfacing and the addition of a natural whey starter cultures (NWSC) prepared with four selected Streptococcus thermophilus strains (PON6, PON244, PON261 e PON413). Ten microbial groups were investig…
Landesman-Lazer type (p, q)-equations with Neumann condition
2020
We consider a Neumann problem driven by the (p, q)-Laplacian under the Landesman-Lazer type condition. Using the classical saddle point theorem and other classical results of the calculus of variations, we show that the problem has at least one nontrivial weak solution.
Niemann-Pick disease type C symptomatology: an expert-based clinical description
2013
Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to disabling neurological manifestations and premature death. The estimated disease incidence is 1:120,000 live births, but this likely represents an underestimate, as the disease may be under-diagnosed due to its highly heterogeneous presentation. NP-C is characterised by visceral, neurological and psychiatric manifestations that are not specific to the disease and that can be found in other conditions. The aim of this review is to provide non-specialists with an expert-based, detailed description of NP-C signs and symptoms, including how they present in patients and how they can be assessed. Early dise…
LIPIDOMICS OF HUMAN SKIN FIBROBLASTS IN NEIMANN-PICK DISEASE TYPE C
2013
Neimann-Pick Disease type C is a hereditary lysosomal storage disease due to mutations of the NPC1 or NPC2 genes. The products of these genes encodes for components of a lysosomal machinery that transport different kinds of lipids across the lysosomal membrane. The main abnormalities of NPC1 de ciency phenotype is the accumulation of free cholesterol (FC) and sphingolipids (GL) in brain, liver and other organs cells. Neurodegeneration and hepato-splenomegaly are common ndings. The NPC disease, in his severe onset, leads to a precocious exitus, though the inhibition of glyco-SL synthesis by miglustat has shown some clinical bene t. Recently the physiopathological mechanism has been partly el…
Recommendations on the diagnosis and management of Niemann-Pick disease type C
2009
Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired intracellular lipid trafficking leads to excess storage of cholesterol and glycosphingolipids in the brain and other tissues. it is characterized clinically by a variety of progressive, disabling neurological symptoms including clumsiness, limb and gait ataxia, dysarthria, dysphagia and cognitive deterioration (dementia). Until recently, there has been no disease-modifying therapy available for NP-C, with treatment limited to supportive measures. In most countries, NP-C is managed through specialist centers, with non-specialist support provided locally. However, effective patient Support is hampered by the a…
Two copper complexes from two novel naphthalene-sulfonyl-triazole ligands: different nuclearity and different DNA binding and cleavage capabilities.
2013
[EN] Two novel naphthalene-sulfonyl-triazole ligands, 5-amino-N1-(naphthalen-3-ylsulfony1)-1,2,4-triazole (anstrz) and 3,5-diamino-N1-(naphthalen-3-ylsulfony1)-1,2,4-triazole (danstrz), purposely designed to interact with DNA, have been prepared for the first time and then fully characterized by H-1, C-13 NMR and IR spectroscopy, mass spectrometry and elemental analysis. The crystal structures of two copper complexes of these derivatives, i.e. [Cu(anstrz)(4)(NO3)(2)]center dot 4CH(3)OH (1), mononuclear, and [Cu(danstrz)(mu-OAc)(2)](2)center dot 2(danstrz) (OAc = acetato) (2), dinuclear, have been determined by single-crystal X-ray diffraction. In both cases the ligand coordinates in a monod…
Meir-Keeler Type Contractions for Tripled Fixed Points
2012
Abstract In 2011, Berinde and Borcut [6] introduced the notion of tripled fixed point in partially ordered metric spaces. In our paper, we give some new tripled fixed point theorems by using a generalization of Meir-Keeler contraction.
Vacancy Defects in Ga2O3: First-Principles Calculations of Electronic Structure
2021
This research was funded by the Science Committee of the Ministry of Education and Science of the Republic of Kazakhstan (Grant No. AP08856540) as well as by the Latvian research council via the Latvian National Research Program under the topic ?High-Energy Physics and Accelerator Technologies?, Agreement No: VPP-IZM-CERN-2020/1-0002 for A.I. Popov. In addition, J. Purans is grateful to the ERAF project 1.1.1.1/20/A/057 while A. Platonenko was supported by Latvian Research Council No. LZP-2018/1-0214. The authors thank A. Lushchik and M. Lushchik for many useful discussions. The research was (partly) performed in the Institute of Solid State Physics, University of Latvia ISSP UL. ISSP UL as…
Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study.
2015
Niemann-Pick disease type C (NP-C) is a devastating, neurovisceral lysosomal storage disorder which is characterised by variable manifestation of visceral signs, progressive neuropsychiatric deterioration and premature death, caused by mutations in the NPC1 and NPC2 genes. Due to the complexity of diagnosis and the availability of an approved therapy in the EU, improved detection of NP-C may have a huge impact on future disease management. At the cellular level dysfunction or deficiency of either the NPC1 or NPC2 protein leads to a complex intracellular endosomal/lysosomal trafficking defect, and organ specific patterns of sphingolipid accumulation. Lysosphingolipids have been shown to be e…