Search results for "Map"
showing 10 items of 3484 documents
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.
2006
Summary: Purpose: Benign familial infantile seizures (BFIS) is a genetically heterogeneous condition characterized by partial seizures, onset age from 3 to 9 months, and favorable outcome. BFIS loci were identified on chromosomes 19q12-13.1 and 16p12-q12, allelic to infantile convulsions and choreathetosis. The identification of SCN2A mutations in families with only infantile seizures indicated that BFNIS and BFIS may show overlapping clinical features. Infantile seizures also were in a family with familial hemiplegic migraine and mutations in the ATP1A2 gene. We have examined the heterogeneous genetics of BFIS by means of linkage analysis. Methods: Sixteen families were examined. Probands …
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.
2013
Inherited retinal dystrophies are a major cause of childhood blindness. Here, we describe the identification of a homozygous frameshift mutation (c.1194_1195delAG, p.Arg398Serfs*9) in TUB in a child from a consanguineous UK Caucasian family investigated using autozygosity mapping and whole-exome sequencing. The proband presented with obesity, night blindness, decreased visual acuity, and electrophysiological features of a rod cone dystrophy. The mutation was also found in two of the proband's siblings with retinal dystrophy and resulted in mislocalization of the truncated protein. In contrast to known forms of retinal dystrophy, including those caused by mutations in the tubby-like protein …
The Influence of Context-Based Complexity on Decision Processes
2011
In this chapter, we present an empirical study which investigates the influence of context-based complexity on decision processes.1 To determine context-based complexity accurately, we measure each subject’s preferences individually with two advanced techniques from marketing research: choice-based conjoint analysis (CBC, Haaijer and Wedel 2007) and pairwise-comparison-based preference measurement (PCPM, Scholz et al. 2010), rather than relying on less precise estimates of preferences. Furthermore, we use eye tracking to trace the process of information acquisition precisely. Our results show that low context-based complexity leads to less information acquisition and more alternative-wise s…
Structuring a System Dynamics Model using Group Model Building : Case Study on Flight Test Human Resources
2019
This paper presents a method that allows capture and organization of mental models of all levels of Stakeholders in order to elaborate a System Dynamics Model closer to the reality and more effective on Strategy proposition. This is done through information raised on the application of Group Model Building (GMB), and using PSM specific tools, like Mental Maps and Cognitive Maps. All these tools allow merge opinions and elicitate knowledge from many stakeholders involved on the process. In order to demonstrate the method’s suitability, it was applied on a Case Study to develop a System Dynamics Model for the Flight Test Specialized Human Resources Career Flow. The method has five stages: fir…
Influence of organophosphate poisoning on human dendritic cells.
2013
Organophosphourus compounds (OPC, including nerve agents and pesticides) exhibit acute toxicity by inhibition of acetylcholinesterase. Lung affections are frequent complications and a risk factor for death. In addition, epidemiological studies reported immunological alterations after OPC exposure. In our experiments we investigated the effects of organophosphourus pesticides dimethoate and chlorpyrifos on dendritic cells (DC) that are essential for the initial immune response, especially in the pulmonary system. DC, differentiated from the monocyte cell line THP-1 by using various cytokines (IL-4, GM-CSF, TNF-α, Ionomycin), were exposed to organophosphourus compounds at different concentrat…
Parthenolide induces caspase-independent and AIF-mediated cell death in human osteosarcoma and melanoma cells
2013
The mechanism of the cytotoxic effect exerted by parthenolide on tumor cells is not clearly defined today. This article shows that parthenolide stimulates in human osteosarcoma MG63 and melanoma SK-MEL-28 cells a mechanism of cell death, which is not prevented by z-VAD-fmk and other caspase inhibitors. In particular treatment with parthenolide rapidly stimulated (1-2 h) reactive oxygen species (ROS) generation by inducing activation of extracellular signal-regulated kinase 1/2 (ERK 1/2) and NADPH oxidase. This event caused depletion of thiol groups and glutathione, NF-κB inhibition, c-Jun N-terminal kinase (JNK) activation, cell detachment from the matrix, and cellular shrinkage. The increa…
Calcitonin gene-related peptide partly protects cultured smooth muscle cells from apoptosis induced by an oxidative stress via activation of ERK1/2 M…
2003
Abstract Oxidative stress induced by a glucose/glucose oxidase (G/GO) generator system dose-dependently decreased the viability of cultured vascular smooth muscle cells (VSMC) as estimated by MTT assay. Cell death was induced in 40% of cells exposed to 0.2 IU/ml of the free radical generating mixture. Annexin-V labeling, Hoechst staining together with DNA laddering demonstrated that apoptosis was responsible for this cell loss. Pretreatment of the cells with 10−8 M calcitonin gene-related peptide (CGRP) significantly attenuated the damaging effect of the oxidative stress. Indeed, cell viability was estimated to be 80% in CGRP-treated group, instead of 60% in absence of CGRP treatment. This …
Fatty acids liberated from low-density lipoprotein trigger endothelial apoptosis via mitogen-activated protein kinases.
2005
Enzymatic modification of low-density lipoprotein (LDL) as it probably occurs in the arterial intima drastically increases its cytotoxicity, which could be relevant for the progression of atherosclerotic lesions. LDL was treated with a protease and cholesterylesterase to generate a derivative similar to lesional LDL, with a high content of free cholesterol and fatty acids. Exposure of endothelial cells to the enzymatically modified lipoprotein (E-LDL), but not to native or oxidized LDL, resulted in programmed cell death. Apoptosis was triggered by apoptosis signal-regulating kinase 1 dependent phosphorylation of p38. Depletion and reconstitution experiments identified free fatty acids (FFA)…
Development and Long-Term Follow-Up of an Experimental Model of Myocardial Infarction in Rabbits
2020
Simple Summary Ischemic heart disease is one of the leading causes of death. A series of processes occur during acute myocardial infarction that contribute to the development of ventricular dysfunction, with subsequent heart failure and ventricular arrhythmias, which account for most episodes of sudden cardiac death in these patients. These complications are associated with the adverse cardiac remodeling that occurs during the healing process following an acute episode. The remodeling causes the appearance of a substrate that can trigger life-threatening arrhythmias, such as tachycardia and/or ventricular fibrillation. The development of experimental models for analyzing the basic mechanism…
Automatic texture mapping on real 3D model
2007
We propose a full automatic technique to project virtual texture on a real textureless 3D object. Our system is composed of cameras and projector and are used to determine the pose of the object in the real world with the projector as reference and then estimate the image seen by the projector if it would be a camera.