Search results for " type C"

Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

2009

Miglustat has been shown to stabilize disease progression in children, juveniles and adults with Niemann-Pick disease type C (NP-C), a rare genetic disorder characterized by progressive neurological deterioration. We report findings from a retrospective observational cohort study assessing the effects of miglustat on neurological disease progression in patients treated in the clinical practice setting. Data from all NP-C patients prescribed miglustat at 25 expert centers were evaluated using a disease disability scale. The scale analyzed four key parameters of neurological disease progression in NP-C (ambulation, manipulation, language, swallowing). Mean individual parameter scores and a co…

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A…

2006

Laboratory diagnosis of lysosomal storage disorders, especially sphingomyelinase deficiency (Niemann–Pick disease type A/B) and Niemann–Pick disease type C (NPC) can be challenging. We therefore aimed to analyse the feasibility of first-step screening with specific chitotriosidase cut-off values in children ≤ 10 years of age with visceral organomegaly (hepatomegaly, splenomegaly, or hepatosplenomegaly) in whom a storage disorder was suspected. We conducted a retrospective, cross-sectional, referral, single-centre study to assess diagnostic test properties in 106 individuals. Median chitotriosidase activity was 12 655 nmol/h per ml (interquartile range 4693–20982) in Gaucher disease (GD); 78…

100. A multicentre retrospective survey of miglustat in patients with Niemann-Pick type C disease

2009

Polymerization of ethylene by oxide-supported titanium halide catalyst: kinetic model with a deactivation of active species

2000

Abstract The effect of the calcination temperature of alumina, which was then used as a support for a titanium halide catalyst [TiCl4/Et2AlCl], on the catalyst activity in ethylene polymerization was investigated. α-Al2O3 was found to make a more advantageous catalyst support as compared to γ-Al2O3 despite the fact that the former offered a clearly lower specific surface area and its content of surface OH groups was inferior. The ethylene polymerization in the presence of the catalytic system on different alumina supports was investigated on the basis of a proposed kinetic model, taking into consideration the deactivation of active sites in the process. The improved activity was found to re…

Longitudinal data from the international registry for Niemann-Pick disease type C (NPC)

2014

(0.69) years. Among 74/80 patients with available data, 10 (14%) patients had early-infantile (aged b2 years), 24 (32%) late-infantile (2 to b6 years), 24 (32%) juvenile (6 to b15 years), and 16 (22%) adolescent/ adult (≥15 years) onset of neurological manifestations. Mean (95%CI) composite disability scores at enrolment and last follow-up visit were 0.39 (0.34, 0.45; N = 75) and 0.45 (0.39, 0.51; N = 76), respectively. A total of 52/72 (72%) patients were categorised as ’improved/stable’ ;2 0/ 72 (28%) were categorised as ‘progressed’. Safety and tolerability findings for miglustat were in line with previous published data. A low proportion of patients had chronic diarrhoea during follow u…

Organometallic VCl4-based catalyst supported on MgCl2(THF)2 for ethylene polymerization

1997

A Ziegler-Natta catalyst was obtained by milling VCl4 with the magnesium support in the from of the MgCl2(THF)2 complex, followed by activation with an organoaluminum compound. This catalyst was employed in low-pressure polymerization of ethylene. The system was found to offer a very high activity and to polymerize ethylene at a rate of a few hundred kg PE/(g Vh) with the resulting molecular weight of the product very high. The kinetic investgation of the polymerization process revealed over 80 % of the transition metal atoms to be involved in the forming catalytic active sites, undergoing virtually no deactivation over the period of time studied.

Baseline data from a prospective international disease registry for Niemann-Pick disease type C

2011

Ex-Vivo model for the evaluation of drugs and micellar systems permeation across cornea

Update From the International Registry for Niemann-Pick Disease Type C (NP-C) in Clinical Practice

2012

Model wielowymiarowej profilaktyki pozytywnej w teorii i praktyce pedagogicznej

2019

Artykuł opisuje teoretyczne oraz empiryczne założenia autorskiego modelu wielowymiarowej profilaktyki pozytywnej. Ponadto prezentuje sposób jego urzeczywistnienia w praktyce pedagogicznej, przedstawiając strukturę autorskiego programu profilaktycznego Wsparcie wielowymiarowego rozwoju młodzieży, zrealizowanego wśród wychowanków Domu Dziecka w Chmielowicach. Teoretyczne podstawy modelu odnoszą się do teorii głównych i teorii szczegółowych. Natomiast założenia empiryczne sprowadzają się do metodyki konstruowania programów profilaktycznych, a więc kryteriów doboru i metod oddziaływań profilaktycznych, uczestników oraz strategii ewaluacyjnej. Model wielowymiarowej profilaktyki pozytywnej w prak…