| 1. |
- Guaran, Valeria, et al.
(författare)
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Association between idiopathic hearing loss and mitochondrial DNA mutations : a study on 169 hearing-impaired subjects
- 2013
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Ingår i: International Journal of Molecular Medicine. - Athen : Spandidos Publications. - 1107-3756 .- 1791-244X. ; 32:4, s. 785-794
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Tidskriftsartikel (refereegranskat)abstract
- Mutations in mitochondrial DNA (mtDNA) have been shown to be an important cause of sensorineural hearing loss (SNHL). In this study, we performed a clinical and genetic analysis of 169 hearing-impaired patients and some of their relatives suffering from idiopathic SNHL, both familial and sporadic. The analysis of four fragments of their mtDNA identified several polymorphisms, the well known pathogenic mutation, A1555G, and some novel mutations in different genes, implying changes in the aminoacidic sequence. A novel sporadic mutation in 12S rRNA (MT-RNR1), not previously reported in the literature, was found in a case of possible aminoglycoside-induced progressive deafness.
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| 2. |
- Berntorp, Karl, et al.
(författare)
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Models and Methodology for Optimal Vehicle Maneuvers Applied to a Hairpin Turn
- 2013
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Ingår i: 2013 American Control Conference. - 0743-1619. - 9781479901777 ; , s. 2139-2146
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Konferensbidrag (refereegranskat)abstract
- There is currently a strongly growing interest in obtaining optimal control solutions for vehicle maneuvers, both in order to understand optimal vehicle behavior and to devise improved safety systems, either by direct deployment of the solutions or by including mimicked driving techniques of professional drivers. However, it is nontrivial to find the right mix of models, formulations, and optimization tools to get useful results for the above purposes. Here, a platform is developed based on a state-of-the-art optimization tool together with adoption of existing vehicle models, where especially the tire models are in focus. A minimum-time formulation is chosen to the purpose of gaining insight in at-the-limit maneuvers, with the overall aim of possibly finding improved principles for future active safety systems. We present optimal maneuvers for different tire models with a common vehicle motion model, and the results are analyzed and discussed. Our main result is that a few-state single-track model combined with different tire models is able to replicate the behavior of experienced drivers. Further, we show that the different tire models give quantitatively different behavior in the optimal control of the vehicle in the maneuver.
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| 3. |
- Berntorp, Karl, et al.
(författare)
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Path Tracking with Obstacle Avoidance for Pseudo-Omnidirectional Mobile Robots Using Convex Optimization
- 2014
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Ingår i: [Host publication title missing]. - 0743-1619. ; , s. 517-524
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Konferensbidrag (refereegranskat)abstract
- We consider the problem of trajectory generation for time-optimal path tracking for the class of pseudo-omnidirectional mobile robots. An Euler-Lagrange model of the robot dynamics is derived, and by writing it on special form a convex reformulation of the path-tracking problem can be utilized. This enables the use and regeneration of time-optimal trajectories during runtime. The proposed approach also incorporates avoidance of moving obstacles, which are unknown a priori. Using sensor data, objects along the desired path are detected. Subsequently, a new path is planned and the corresponding time-optimal trajectory is found. The robustness of the method and its sensitivity to model errors are analyzed and discussed with extensive simulation results. Moreover, we verify the approach by successful execution on a physical setup.
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| 4. |
- Castiglione, Alessandro, 1976-, et al.
(författare)
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Karyotype-phenotype correlation in partial trisomies of the short arm of chromosome 6 : a family case report and review of the literature
- 2013
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Ingår i: Cytogenetic and Genome Research. - Basel : S. Karger. - 1424-8581 .- 1424-859X. ; 141:4, s. 243-259
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Forskningsöversikt (refereegranskat)abstract
- The first child (proband) of nonconsanguineous Caucasian parents underwent genetic investigation because she was affected with congenital choanal atresia, heart defects and kidney hyposplasia with mild transient renal insufficiency. The direct DNA sequencing after PCR of the CHD7 gene, which is thought to be responsible for approximately 60-70% of the cases of CHARGE syndrome/association, found no mutations. The cytogenetic analysis (standard GTG banding karyotype) revealed the presence of extrachromosomal material on 10q. The chromosome analysis was completed with array CGH (30 kb resolution), MLPA and FISH, which allowed the identification of three 6p regions (6p.25.3p23 × 3): 2 of these regions are normally located on chromosome 6, and the third region is translocated to the long arm of chromosome 10. The same chromosomal rearrangement was subsequently found in the father, who was affected with congenital ptosis and progressive hearing loss, and in the proband's sister, the second child, who presented at birth with choanal atresia and congenital heart defects. The mutated karyotypes, which were directly inherited, are thought to be responsible for a variable phenotype, including craniofacial dysmorphisms, choanal atresia, congenital ptosis, sensorineural hearing loss, heart defects, developmental delay, and renal dysfunction. Nevertheless, to achieve a complete audiological assessment of the father, he underwent further investigation that revealed an increased level of the coagulation factor XIII (300% increased activity), fluctuating levels of fibrin D-dimer degradation products (from 296 to 1,587 ng/ml) and a homoplasmic mitochondrial DNA mutation: T961G in the MTRNR1 (12S rRNA) gene. He was made a candidate for cochlear implantation. Preoperative high-resolution computed tomography and magnetic resonance imaging of the temporal bone revealed the presence of an Arnold-Chiari malformation type I. To the best of our knowledge, this study is the second report on partial 6p trisomy that involves the 10q terminal region. Furthermore, we report the first case of documented Arnold-Chiari malformation type I and increased factor XIII activity associated with 6p trisomy. We present a comprehensive report of the familial cases and an exhaustive literature review.
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| 5. |
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| 6. |
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| 7. |
- Sootla, Aivar, et al.
(författare)
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Convenient Representations of Structured Systems for Model Order Reduction
- 2012
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Ingår i: [Host publication title missing].
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Konferensbidrag (refereegranskat)abstract
- In control theory there exist two convenient representations of a model, which are transfer functions and state-space matrices. However, structure in the transfer functions is not clearly seen in the state-space form, and on the other hand structure in the state-space form is not clearly seen in the transfer functions. The main reason for this is that Laplace transformation destroys most types of structures. The goal of this paper was introducing such representations that clearly reflect structure in both frequency and time domain. Such representations are obtained by introducing auxiliary signals which define the interactions within the structure. The auxiliary signals lower level of abstraction of input-output mappings, thus providing an insight into physical properties of a system.
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| 8. |
- Ye, Fei, et al.
(författare)
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Uniform mesoporous silica coated iron oxide nanoparticles as a highly efficient, nontoxic MRI T 2 contrast agent with tunable proton relaxivities
- 2012
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Ingår i: Contrast Media & Molecular Imaging. - : Wiley. - 1555-4309 .- 1555-4317. ; 7:5, s. 460-468
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Tidskriftsartikel (refereegranskat)abstract
- Monodisperse mesoporous silica (mSiO 2) coated superparamagnetic iron oxide (Fe 3O 4@mSiO 2) nanoparticles (NPs) have been developed as a potential magnetic resonance imaging (MRI) T 2 contrast agent. To evaluate the effect of surface coating on MRI contrast efficiency, we examined the proton relaxivities of Fe 3O 4@mSiO 2 NPs with different coating thicknesses. It was found that the mSiO 2 coating has a significant impact on the efficiency of Fe 3O 4 NPs for MRI contrast enhancement. The efficiency increases with the thickness of mSiO 2 coating and is much higher than that of the commercial contrast agents. Nuclear magnetic resonance (NMR) relaxometry of Fe 3O 4@mSiO 2 further revealed that mSiO 2 coating is partially permeable to water molecules and therefore induces the decrease of longitudinal relaxivity, r 1. Biocompatibility evaluation of various sized (ca. 35-95 nm) Fe 3O 4@mSiO 2 NPs was tested on OC-k3 cells and the result showed that these particles have no negative impact on cell viability. The enhanced MRI efficiency of Fe 3O 4@mSiO 2 highlights these core-shell particles as highly efficient T 2 contrast agents with high biocompatibility.
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