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This work contains the elements which are necessary to understand how the clinical trials about neurofibromatosis type 1 (NF1) have been developed and the bases on which they have relied in order to determine the prospects of treatment for the patients suffering from this genetic disorder. Therefore follows the clinical description of this condition as well as its genetic origin, the functions of the neurofibromin, the protein encoded by the NF1 gene, the up to date knowledge acquired on the signaling pathways and a briefoverview of animal data (orthologs).As NF1 is a multisystem disease with highly variable expressivity, it seems important to focus on a more specific domain: plexiform neurofibromas. Due to the specific nature and natural history of these neurofibromas at bedside, experts elaborated a distinct clinical tool for a more appropriate evaluation for treatment efficacy measurement (ReINS). This scale is here reported. Numerous clinical trials have been conducted with different molecules. Four molecules are here fully described: imatinib, sirolimus, pirfenidone and tipifamib. For each molecule, pharmacology, mechanisms of action and indication for treatment extracted from different phases of trial to clinical use in plexiform neurofibromas are reported. The focus on these 4 allow to draw the lines of evidence and may serve as a good background to explore the research and development strengths and caveats for other new drugs.In conclusion, the various studies once analyzed have revealed the pertinent use of the volumetric analyze of plexiform neurofibromas by M.R.I and to use evaluation tools the quality of life, pain and patient appreciation on treatment. They also helped to improve the knowledge conceming NF1 and the use of medicine in this particular disease."contributory" although insufficient effect. The knowledge acquired to date offers no treatment for patients suffering from NF 1 but the ongoing studies should guarantee progress for a better treatment and let .us hope to cure. Le présent mémoire contient les éléments permettant de comprendre sur quelles bases se sont appuyés et comment ont pu être élaborés les essais cliniques dans le cadre de la Neurofibromatose de type 1(NF1) et ce afin de déterminer quelles sont les perspectives de traitement pour les patients atteints de cette maladie génétique. Ainsi, sont présentées successivement : la description clinique de cette phacomatose, son origine génétique, les fonctions de la neurofibromine encodée par le gène NF 1, les connaissances acquises au niveau biologique (voies de signalisation) et un bref aperçu des données issues des recherches chez l'animal. La NF1 étant une maladie multisystémique, il m'a semblé important de cibler un domaine plus particulier : celui des neurofibromes plexiformes. De nombreux essais cliniques ont été effectués avec différentes molécules, dont 4 sont abordées de manière détaillée : l'imatinib, le sirolimus, la pirfénidone et le tipifarnib. L'intérêt de chaque molécule dans le traitement des neurofibromes plexiformes à partir des indications et des mécanismes maîtrisés actuellement a été précisé. Notons également que d'autres molécules, citées dans ce travail, ont été testées ou sont actuellement en cours d'étude. Avant de décrire chacune des filières médicamenteuses, la méthodologie spécifique, « ReiNS », développée pour les essais cliniques effectués dans le cadre de la NF1 est détaillée. En conclusion, les études analysées ont, tout d'abord, permis de préciser la pertinence de l'analyse volumétrique des neurofibromes plexiformes par IRM et de déterminer les outils d'évaluation de la qualité de vie, de la douleur... Elles ont également contribué à améliorer les connaissances de la NF1 et l'utilisation des médicaments dans ce cadre particulier. Seuls l'imatinib et le sirolimus semblent montrer un effet « contributif » mais malgré tout insuffisant. Les connaissances acquises, à ce jour, n'offrent donc aucunes perspectives de traitement aux patients atteints de NF1 et présentant un neurofibrome plexiforme. Cependant, les études en cours et l'intérêt scientifique pour cette problématique leur permettent de garder espoir.

Neurofibromatosis 1 --- Clinical Trial

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Genomics --- Meta-Analysis --- Statistical methods --- Meta-analysis. --- Computational Biology --- Statistics as Topic --- Meta-Analysis as Topic. --- Medicine --- Psychometrics --- Social sciences --- Genome research --- Genomes --- Molecular genetics --- Statistical methods. --- methods. --- Research --- Evaluation --- Biomathematics. Biometry. Biostatistics --- Overviews, Clinical Trial --- Clinical Trial Overviews --- Data Pooling --- Clinical Trial Overview --- Data Poolings --- Meta Analysis as Topic --- Overview, Clinical Trial --- Clinical Trials as Topic --- Review Literature as Topic --- Models, Statistical --- Meta-analysis --- Meta-Analysis as Topic --- methods --- Genomics - Statistical methods

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Study designed to determine the optimal frequency of repositioning in nursing home residents at risk for pressure ulcers when cared for on high density foam mattresses.

Bedsores --- Prevention. --- Pressure Ulcer --- Clinical trial --- Health --- Mattress --- Nursing --- Pressure ulcer --- Statistics --- Hypothermia --- Logistic regression --- Medicine --- Health sciences --- prevention & control.

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This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact

Medicine --- Oncology --- personalized medicine --- precision oncology --- pediatric oncology --- trial models --- drug models --- personalized precision pediatric oncology --- clinical trial designs

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This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact

traumatic brain injury (TBI) --- neuroprotection --- therapy --- translational research --- drug development --- clinical trial design --- mesenchymal stem cells --- phenotyping