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showing 10 items of 13546 documents
PORCN mutations in focal dermal hypoplasia: coping with lethality.
2009
Contains fulltext : 81709.pdf (Publisher’s version ) (Closed access) The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transmission from cells carrying a detrimental PORCN mutation on an active X-chromosome. Molecular characterization of 24 unrelated patients from different ethnic backgrounds revealed 23 different mutations of the PORCN gene in Xp11.23. Three were microdeletions eliminating PORCN and encompassing neighboring genes such as EBP, the gene associated with Conradi-Hunermann-Happle syndrome (CDPX2). 12/24 patients carried nonsense mutations resulting in loss …
Tailored screening and dedicated funding for direct acting antiviral drugs: How to keep Italy on the road to hepatitis C virus elimination?
2020
Background and aims. Hepatitis C virus (HCV) elimination for Italy is an ambitious, but achievable goal. In Italy, there is political will, which aims to achieve the World Health Organization (WHO) elimination goals recognizing the need to identify undiagnosed individuals in key high-risk groups and in the general population, however there is concern regarding HCV treatment implementation in Italian Regions. Methods. A modelling analysis was conducted, using the “Italy Polaris” model, to forecast the impact of different HCV treatment rates in achieving the HCV elimination goals in Italy. The model assessed two treatment scenarios: 2018 Scenario and 2019 Scenario, using the annually HCV trea…
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.
2012
Background: Rubinstein-Taybi syndrome (RSTS) is a congenital neurodevelopmental disorder defined by postnatal growth deficiency, characteristic skeletal abnormalities and mental retardation and caused by mutations in the genes encoding for the transcriptional co-activators with intrinsic lysine acetyltransferase (KAT) activity CBP and p300. Previous studies have shown that neuronal histone acetylation is reduced in mouse models of RSTS. Methods: The authors identified different mutations at the CREBBP locus and generated lymphoblastoid cell lines derived from nine patients with RSTS carrying distinct CREBBP mutations that illustrate different grades of the clinical severity in the spectrum …
The Attentional Demand of Automobile Driving Revisited: Occlusion Distance as a Function of Task- Relevant Event Density in Realistic Driving Scenari…
2014
Objective: We studied the utility of occlusion distance as a function of task-relevant event density in realistic traffic scenarios with self-controlled speed. Background: The visual occlusion technique is an established method for assessing visual demands of driving. However, occlusion time is not a highly informative measure of environmental task-relevant event density in self-paced driving scenarios because it partials out the effects of changes in driving speed. Method: Self-determined occlusion times and distances of 97 drivers with varying backgrounds were analyzed in driving scenarios simulating real Finnish suburban and highway traffic environments with self-determined vehicle speed…
Sister chromatid exchange in Waldenström's macroglobulinemia
1993
Results on sister chromatid exchange (SCE) frequency and interchromosomal distribution in bone marrow and peripheral blood cultures from patients with Waldenström's macroglobulinemia are reported. PHA-stimulated bone marrow cultures showed increased SCE frequencies in all 12 patients examined. The increase was particularly high in two cases (17.07 and 16.77 SCE/cell, respectively) and, in one of them, a very high SCE level was found in PHA-stimulated peripheral blood culture (40.81 SCE/cell). In LPS-stimulated cultures, increased SCE levels were observed in some patients. Comparison between SCE frequency in bone marrow cell cultures with either mitogen showed a significant increase in PHA-s…
Comparison of prognostic models in patients with advanced Hodgkin disease
2001
Several prognostic systems have been elaborated for patients with Hodgkin disease (HD) over the last 12 years, but early identification of a reasonably large group of both low and high risk, advanced stage patients remains unsatisfactory.Seven well known models were applied to 516 patients with advanced HD, with 315 patients used for the study sample and 201 patients used for the test sample. Individual performances as well as joint performances were analyzed univariately and multivariately in relation to overall survival, recurrence free survival, and time to treatment failure by means of a proportional hazards model.None of the models identified a group containing10% of patients from the …
Cytochrome P450 2E1 variable number tandem repeat polymorphisms and health risks: A genotype-phenotype study in cancers associated with drinking and/…
2012
Cytochrome P450 2E1 (CYP2E1) is one of the main enzymes involved in the oxidation of ethanol and in the transformation of a number of potentially dangerous compounds. It has various polymorphic sites, one of which is a variable number tandem repeat (VNTR) polymorphism previously described in the 5'-flanking region. The aim of this study was to investigate the genotype-phenotype association between CYP2E1 VNTR polymorphisms and risky health habits in healthy subjects and to analyze the associations between these polymorphisms with drinking- and/or smoking-related cancers. We analyzed 166 healthy subjects by genotyping for the CYP2E1 VNTR polymorphism associated with drinking and/or smoking h…
Chromosomal abnormalities in Waldenström's macroglobulinemia
1992
We report the results of cytogenetic studies of direct bone marrow (BM) preparations and of short-term BM and peripheral blood (PB) cultures from 17 patients with Waldenström's macroglobulinemia. We noted clonal chromosome changes in 10 patients. Abnormalities affected chromosomes X, Y, 2, 4, 5, 15, 16, 18, 19, 20, 21, and 22; in particular, chromosomes 2, 4, and 5 were involved in structural changes: a homogeneously staining region [hsr(2)], a der(4)t(4;?)(q32;?), and a 5q+. The other chromosomes were involved in numerical abnormalities, such as pseudodiploidy (a 46,X,-X,+15 clone), loss of chromosome Y, and monosomy of chromosomes 16, 18, 19, 20, 21, and 22. Nonclonal chromosome rearrange…
Does the left inferior parietal lobule contribute to multiplication facts?
2005
We report a single case, who presents with a selective and severe impairment for multiplication and division facts. His ability to retrieve subtraction and addition facts was entirely normal. His brain lesion affected the left superior temporal and to lesser extent in the left middle temporal gyri and the left precentral gyrus extending inferiorly to the pars opercularis of the left frontal lobe. Interestingly, the left supramarginal and angular gyri (SMG/AG) were spared. This finding realised a double dissociation with a previously reported patient, who despite lesions in the SMG/AG did not have a multiplication impairment (van Harskamp et al., 2002). The previously suggested crucial role …
Permanently online and permanently connected : development and validation of the Online Vigilance Scale
2017
Smartphones and other mobile devices have fundamentally changed patterns of Internet use in everyday life by making online access constantly available. The present paper offers a theoretical explication and empirical assessment of the concept of online vigilance, referring to users' permanent cognitive orientation towards online content and communication as well as their disposition to exploit these options constantly. Based on four studies, a validated and reliable self-report measure of online vigilance was developed. In combination, the results suggest that the Online Vigilance Scale (OVS) shows a stable factor structure in various contexts and user populations and provides future work i…