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PURPOSE:Gastrointestinal stromal tumor (GIST) is the most common human sarcoma and a model of targeted molecular therapy. GIST depends on oncogenic KIT signaling and responds to the tyrosine kinase inhibitor imatinib. However, imatinib is rarely curative. We hypothesized that PLX3397, which inhibits KIT and colony-stimulating-factor-1 receptor (CSF1R), would be more efficacious than imatinib in GI

Increasing security in transports without negatively affecting the logistical flow makes efficiency a critical factor. To achieve a viable end-to-end security solution in a supply chain, with complex network of dependencies, a holistic perspective is required. With focus on dual use measures this pilot project, performed in close cooperation between Volvo Technology and Saab, involves important st

Increasing security in transports without negatively affecting the logistical flow makes efficiency a critical factor. To achieve a viable end-to-end security solution in a supply chain, with complex network of dependencies, requires a holistic perspective. The pilot project was driven by Volvo Technology and it involved important stakeholders in the supply chain and port domain focusing on the PoIncreasing security in transports without negatively affecting the logistical flow makes efficiency a critical factor. To achieve a viable end-to-end security solution in a supply chain, with complex network of dependencies, requires a holistic perspective. The pilot project was driven by Volvo Technology and it involved important stakeholders in the supply chain and port domain focusing on the Po

We provide a framework for 6 DOF pose estimation in seam-tracking applications using particle filtering. The particle filter algorithm developed incorporates measurements from both a 2 DOF laser seam tracker and the robot forward kinematics under an assumed external force. Special attention is paid to modeling of disturbances in the respective measurements, and methods are developed to assist the

Mitochondrial diseases are a heterogeneous group of disorders caused by the impairment of the mitochondrial oxidative phosphorylation system which have been associated with various mutations of the mitochondrial DNA (mtDNA) and nuclear gene mutations. The clinical phenotypes are very diverse and the spectrum is still expanding. As brain and muscle are highly dependent on OXPHOS, consequently, neur

Pathogenic mitochondrial DNA (mtDNA) mutations leading to mitochondrial dysfunction can cause cardiomyopathy and heart failure. These mutations were described in the mt-tRNA genes and in the mitochondrial protein-coding genes. The aim of this study was to identify the genetic defect in two patients belonging to two families with cardiac dysfunction associated to a wide spectrum of clinical phenoty

Genes encoding the DNA helicase TWINKLE (C10orf2) or the two subunits of mtDNA polymerase γ (POLγ) (POLG1 and POLG2) have a direct effect on the mitochondrial DNA replication machinery and were reported in many mitochondrial disorders. Friedreich's ataxia (FRDA) is the common cause of ataxia often associated with the expansion of a GAA repeat in intron 1 of the frataxin gene (FXN). Mitochondrial D

This article reflects results from the technology screening and analyses of passive and active measures applied to large scale residential building refurbishments, focusing on the facade. This work is part of the research study ‘multi-active façade' that focuses on the development of an innovative facade concept suitable for the refurbishment challenges that the ambitious Swedish housing programme

It was estimated that about 0.5% of the world’s population is in need of assistive devices; in 2013, the number of people who required such aid was estimated at 25 million in Africa and Asia. The majority of these people could have increased their participation within society by receiving an assistive device to facilitate mobilisation, recognised as a step in accessing basic human rights such as f

Background: About 73% of the population in Sierra Leone live in multidimensional poverty which makes Sierra Leone to be one of the poorest countries in the world. Sierra Leone suffered from a decade long civil war, 1991-2002, where humiliating methods were used such as machete amputations of civilians and the progress of eradicating poliomyelitis was hindered. Purpose: The aim of this study was to

Mitochondrial DNA (mtDNA) defects were known to be associated with a large spectrum of human diseases and patients might present wide range of clinical features with various combinations. Mutations in mitochondrial tRNAs, rRNAs and protein-coding genes or large-scale rearrangements have been implicated in several cytopathies. Mitochondrial myopathies, usually maternally inherited group of neuromus

To investigate the spectrum of common mitochondrial mutations in Tunisia during the years of 2002-2012, 226 patients with mitochondrial disorders were clinically diagnosed with hearing loss, Leigh syndrome (LS), diabetes, cardiomyopathy, Kearns-Sayre syndrome (KSS), Pearson syndrome (PS), myopathy, mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS) a

Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. Sensorineural hearing loss (SNHL) has been described in association to different mitochondrial multisystem syndromes, often involving the central nervous system, neuromuscular, or endocrine organs. In this study, we described a Tunisian young girl w

Pompe disease is a progressive metabolic myopathy caused by deficiency in lysosomal acid α-glucosidase and results in cellular lysosomal and cytoplasmic glycogen accumulation. A wide spectrum of clinical phenotypes exists from hypotonia and severe cardiac hypertrophy in the first few months of life to a milder form with the onset of symptoms in adulthood. The disease is typically due to severe mut

Background: The landlocked mountain country of Nepal has an extreme topography and is one of the poorest and least developed countries in the world. Nepal has ratified and signed the Convention on the Rights of Persons with Disabilities (CRPD). To understand what is required to improve prosthetic provision and services for persons living with an amputation in low-income countries, it is of interes

Cytochrome c oxidase encoded by multiple mitochondrial genes (COXI, COXII, and COXIII) and nuclear genes is an essential component of the mitochondrial respiratory chain that catalyzes the reduction of molecular oxygen by reduced cytochrome c. Subunits COXI and COXII of cytochrome c oxidase are known to play the most essential role in proton pumping and electron transfer. In this study we screened

Pearson syndrome (PS) is a multisystem disease including refractory anemia, vacuolization of marrow precursors and pancreatic fibrosis. The disease starts during infancy and affects various tissues and organs, and most affected children die before the age of 3years. Pearson syndrome is caused by de novo large-scale deletions or, more rarely, duplications in the mitochondrial genome. In the present