Weerbaarheidstraining binnen NOVO, een verkenning van motivatie en doelen

Samenvatting Uit de praktijk en de literatuur komt naar voren dat mensen met een verstandelijke beperking minder weerbaar zijn dan leeftijdsgenoten zonder een verstandelijke beperking. Ook is bekend dat weerbaarheidstrainingen effectief kunnen zijn om de kwetsbaarheid te verminderen en de weerbaarheid te vergroten. Om deze reden organiseert NOVO (zorginstelling voor mensen met een verstandelijke beperking) weerbaarheidstrainingen voor de cliënten. Voorafgaand aan de weerbaarheidstraining worden doelen opgesteld, die de cliënt wil behalen. In dit onderzoek is nagegaan of cliënten de vooropgestelde doelen realiseren met de training. Ook is onderzocht of er samenhang bestaat tussen de motivatie van de cliënt (onderzocht in eerder onderzoek van Van Schaick ) en het realiseren van de doelen. In dit onderzoek is sprake van secundaire gegevensanalyse op basis van het databestand van Van Schaick. Zij verzamelde data aan de hand van enerzijds dossiers van cliënten en anderzijds vragenlijsten aan gedragswetenschappers die de betreffende cliënten hebben doorverwezen naar de weerbaarheidstraining. In totaal zijn van 48 cliënten gegevens geanalyseerd. Uit de resultaten blijkt dat de cliënten over het algemeen gemotiveerd zijn om aan de weerbaarheidstraining deel te nemen. Als gekeken wordt naar de factor motivatie is het niet zo dat hoe gemotiveerder de cliënt is hoe meer doelen hij/zij met het volgen van de weerbaarheidstraining wil behalen. Gemiddeld worden 6.4 doelen per cliënt genoemd. De belangrijkste doelen die voorafgaand aan de weerbaarheidstraining worden gesteld hebben betrekking op het aangeven van grenzen, hebben van zelfvertrouwen en staande houden in sociale situaties. Over het algemeen wordt aangegeven dat het doel door het volgen van de weerbaarheidstraining ook daadwerkelijk is gerealiseerd. Ook blijkt dat na de gevolgde weerbaarheidstraining naast de opgestelde doelen ook andere doelen zijn gerealiseerd, welke niet zijn geformuleerd voorafgaand aan de training. Doelen die hierbij genoemd zijn, zijn op het gebied van geleerde vaardigheden, ontspannen en beheersing

Reduced or modified dietary fat for preventing cardiovascular disease

BACKGROUND: Reduction or modification of dietary fat can improve total cholesterol levels, but may also have a variety of effects, both positive and negative, on other cardiovascular risk factors. OBJECTIVES: The aim of this systematic review was to assess the effect of reduction or modification of dietary fats on total and cardiovascular mortality and cardiovascular morbidity over at least 6 months, using all available randomized clinical trials. SEARCH STRATEGY: The Cochrane Library, MEDLINE, EMBASE, CAB Abstracts, CVRCT registry and related Cochrane Groups' trial registers were searched through spring 1998, SIGLE to January 1999. Trials known to experts in the field and biographies were included through May 1999. SELECTION CRITERIA: Trials fulfilled the following criteria: 1) randomized with appropriate control group, 2) intention to reduce or modify fat or cholesterol intake (excluding exclusively omega-3 fat interventions), 3) not multi factorial, 4) healthy adult humans, 5) intervention at least six months, 6) mortality or cardiovascular morbidity data available. Inclusion decisions were duplicated, disagreement resolved by discussion or a third party. DATA COLLECTION AND ANALYSIS: Rate data were extracted by two independent reviewers and meta-analysis performed using random effects methodology. Meta-regression and funnel plots were used. MAIN RESULTS: Twenty seven studies were included (40 intervention arms, 30,901 person-years). There was no significant effect on total mortality (rate ratio 0.98, 95% CI 0.86 to 1.12), a trend towards protection form cardiovascular mortality (rate ratio 0.91, 95% CI 0.77 to 1.07), and significant protection from cardiovascular events (rate ratio 0.84, 95% CI 0.72 to 0.99). The latter became non-significant on sensitivity analysis. Trials where participants were involved for more than 2 years showed significant reductions in the rate of cardiovascular events and a suggestion of protection from total mortality. The degree of protection from cardiovascular events appeared similar in high and low risk groups, but was statistically significant only in the former. REVIEWER'S CONCLUSIONS: The findings are suggestive of a small but potentially important reduction in cardiovascular risk in trials longer than two years. Lifestyle advice to all those at high risk of cardiovascular disease (especially where statins are unavailable or rationed), and to lower risk population groups, should continue to include permanent reduction of dietary saturated fat and partial replacement by unsaturates

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

BACKGROUND: The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of α-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-eye-brain disease to mild, late-onset, isolated limb-girdle muscular dystrophy without neural involvement. However, muscular dystrophy is invariably found across the spectrum of MDDG patients. METHODS: Using linkage mapping and whole-exome sequencing in two families with an unexplained neurodevelopmental disorder, we have identified homozygous and compound heterozygous mutations in B3GALNT2. RESULTS: The first family comprises two brothers of Dutch non-consanguineous parents presenting with mild ID and behavioral problems. Immunohistochemical analysis of muscle biopsy revealed no significant aberrations, in line with the absence of a muscular phenotype in the affected siblings. The second family includes five affected individuals from an Iranian consanguineous kindred with mild-to-moderate intellectual disability (ID) and epilepsy without any notable neuroimaging, muscle, or eye abnormalities. Complementation assays of the compound heterozygous mutations identified in the two brothers had a comparable effect on the O-glycosylation of α-dystroglycan as previously reported mutations that are associated with severe muscular phenotypes. CONCLUSIONS: In conclusion, we show that mutations in B3GALNT2 can give rise to a novel MDDG syndrome presentation, characterized by ID associated variably with seizure, but without any apparent muscular involvement. Importantly, B3GALNT2 activity does not fully correlate with the severity of the phenotype as assessed by the complementation assay

Tudásmenedzsment és a felsőoktatási intézmény, mint vállalat = Knowledge Management and the University as a Company

Purpose: ALK rearrangement detection using FISH is the standard test to identify patients with non–small cell lung carcinoma (NSCLC) eligible for treatment with ALK inhibitors. Recently, ALK protein expression in resectable NSCLC showed predictive value. We evaluated tumor response rate and survival after crizotinib treatment of patients with advanced NSCLC with ALK activation using both dichotomous immunohistochemical (IHC) staining and FISH. Experimental Design: Patients with stage IV NSCLC treated with crizotinib were selected. Tumor response was assessed. ALK rearrangements were detected by FISH (Vysis ALK-break-apart FISH-Probe KIT) and IHC [Ventana ALK (D5F3) CDx assay]. Cohorts of patients with ALK-FISH–positive advanced NSCLC from four other hospitals were used for validation. Results: Twenty-nine consecutive patients with ALK-positive advanced NSCLC diagnosed by FISH and/or IHC on small biopsies or fine-needle aspirations (FNA) were treated with ALK inhibitors. All ALK-IHC–positive patients responded to crizotinib except three with primary resistance. No tumor response was observed in 13 ALK-FISH–positive but ALK-IHC–negative patients. This was confirmed in an external cohort of 16 patients. Receiver operator characteristic (ROC) curves for ALK-IHC and ALK-FISH compared with treatment outcome showed that dichotomous ALK-IHC outperforms ALK-FISH [tumor response area under the curve: (AUC), 0.86 vs. 0.64, P ¼ 0.03; progression-free survival (PFS): AUC 0.86 vs. 0.36, P ¼ 0.005; overall survival (OS): AUC, 0.78 vs. 0.41, P ¼ 0.01, respectively]. Conclusions: Dichotomous ALK-IHC is superior to ALK-FISH on small biopsies and FNA to predict tumor response and survival to crizotinib for patients with advanced NSCLC. Our data strongly suggest adapting the guidelines and using dichotomous ALK-IHC as standard companion diagnostic test to select patients with NSCLC who benefit from ALK-targeting therapy

Leptoproduction of Heavy Quarks II -- A Unified QCD Formulation of Charged and Neutral Current Processes from Fixed-target to Collider Energies

A unified QCD formulation of leptoproduction of massive quarks in charged current and neutral current processes is described. This involves adopting consistent factorization and renormalization schemes which encompass both vector-boson-gluon-fusion (flavor creation) and vector-boson-massive-quark-scattering (flavor excitation) production mechanisms. It provides a framework which is valid from the threshold for producing the massive quark (where gluon-fusion is dominant) to the very high energy regime when the typical energy scale \mu is much larger than the quark mass m_Q (where the quark-scattering should be prevalent). This approach effectively resums all large logarithms of the type (alpha_s(mu) log(mu^2/m_Q^2)^n which limit the validity of existing fixed-order calculations to the region mu ~ O(m_Q). We show that the (massive) quark-scattering contribution (after subtraction of overlaps) is important in most parts of the (x, Q) plane except near the threshold region. We demonstrate that the factorization scale dependence of the structure functions calculated in this approach is substantially less than those obtained in the fixed-order calculations, as one would expect from a more consistent formulation.Comment: LaTeX format, 29 pages, 11 figures. Revised to make auto-TeX-abl

Soft Gluon Resummation for Heavy Quark Electroproduction

We present the threshold resummation for the cross section for electroproduction of heavy quarks. We work to next-to-leading logarithmic accuracy, and in single-particle inclusive kinematics. We provide next-to-leading and next-to-next-to-leading order expansions of our resummed formula, and examine numerically the quality of these finite order approximations. For the case of charm we study their impact on the structure function $F_2$ and its differential distribution with respect to the charm transverse momentum.Comment: 27 pages, 17 figure