209 research outputs found
Quelles sont les différentes stratégies d'organisation mises en place par des élèves de petite section de maternelle dans des situations de découverte de l'écrit mettant en œuvre des compétences d'énumération ?
Nous nous sommes interrogées sur les différentes stratégies d'organisation mises en place par des élèves de petite section lors d'un travail de reconstitution de leur prénom avec des étiquettes-lettres. Nous avons alors constaté que l'organisation des élèves et leur efficacité dépend de nombreuses variables, souvent liées au matériel nécessaire à la réalisation de la tâche
A new family with hereditary lysozyme amyloidosis with gastritis and inflammatory bowel disease as prevailing symptoms
BACKGROUND: Systemic amyloidoses is a heterogeneous group of diseases either acquired or hereditary. Amyloidoses can involve the gastrointestinal tract and the nature of the precursor protein that forms the fibrils deposits should be identified to adjust the treatment and evaluate the prognosis. Lysozyme amyloidosis (ALys) is a rare, systemic non neuropathic hereditary amyloidosis with a heterogenous phenotype including gastrointestinal, renal and hepatic symptoms. CASE PRESENTATION: We report and describe symptoms and gastrointestinal tract involvement in a new family with hereditary lysozyme amyloidosis. Clinical manifestations and organ involvement of nine affected members of a new family with the p.Trp82Arg ALys variant were recorded. All affected individuals suffered with prevailing gastrointestinal symptoms leading to the diagnosis of ALys. 8/9 had non specific upper gastrointestinal symptoms and 3/9 had rectocolic inflammation evoking inflammatory bowel disease. No other organ involvement by amyloidosis was found. Histological examination revealed amyloid deposits in all cases and all carried the p.Trp82Arg ALys variant at a heterozygous state. CONCLUSION: Hereditary amyloidosis associated with the p.Trp82Arg lysozyme variant in this new family is predominantly associated with mild upper gastrointestinal tract involvement and in some cases with inflammatory bowel disease. Amyloidosis should be considered in atypical or treatment resistant, upper or lower chronic gastrointestinal symptoms. When associated with a familial history a lysozyme gene mutation must be searched
Evaluation of a Droplet Digital Polymerase Chain Reaction Format for DNA Copy Number Quantification
ABSTRACT: Droplet digital polymerase chain reaction (ddPCR) is a new technology that was recently commercialized to enable the precise quantification of target nucleic acids in a sample. ddPCR measures absolute quantities by counting nucleic acid molecules encapsulated in discrete, volumetrically defined, water-in-oil droplet partitions. This novel ddPCR format offers a simple workflow capable of generating highly stable partitioning of DNA molecules. In this study, we assessed key performance parameters of the ddPCR system. A linear ddPCR response to DNA concentration was obtained from 0.16 % through to 99.6 % saturation in a 20,000 droplet assay corresponding to more than 4 orders of magnitude of target DNA copy number per ddPCR. Analysis of simplex and duplex assays targeting two distinct loci in the Lambda DNA genome using the ddPCR platform agreed, within their expanded uncertainties, with values obtained using a lower density microfluidic chamber based digital PCR (cdPCR). A relative expanded uncertainty under 5 % was achieved for copy number concentration using ddPCR. This level of uncertainty is much lower than values typically observed for quantification of specific DNA target sequences using currently commercially available real-time and digital cdPCR technologies
IgE allergy diagnostics and other relevant tests in allergy, a World Allergy Organization position paper
Correction: Volume14 Issue7 Article Number100557 DOI10.1016/j.waojou.2021.100557Currently, testing for immunoglobulin E (IgE) sensitization is the cornerstone of diagnostic evaluation in suspected allergic conditions. This review provides a thorough and updated critical appraisal of the most frequently used diagnostic tests, both in vivo and in vitro. It discusses skin tests, challenges, and serological and cellular in vitro tests, and provides an overview of indications, advantages and disadvantages of each in conditions such as respiratory, food, venom, drug, and occupational allergy. Skin prick testing remains the first line approach in most instances; the added value of serum specific IgE to whole allergen extracts or components, as well as the role of basophil activation tests, is evaluated. Unproven, non-validated, diagnostic tests are also discussed. Throughout the review, the reader must bear in mind the relevance of differentiating between sensitization and allergy; the latter entails not only allergic sensitization, but also clinically relevant symptoms triggered by the culprit allergen.Peer reviewe
L'accès au marché des médicaments de thérapies innovantes en France avant et après la réforme du 1er juillet 2021
Nous nous intéresserons au travers de cette thèse, dans une première partie, aux médicaments de thérapie innovante en France ainsi qu’à l’identification du secteur le plus en demande de solutions : l’oncologie. Dans un second temps, nous étudierons l’accès au marché des médicaments en France, en mettant en exergue les atouts et les faiblesses de l’ancien système dérogatoires, avant la réforme du 1er juillet 2021. Enfin, dans une troisième partie, nous verrons comment la réforme de l’accès précoce et de l’accès compassionnel s’insère dans notre système santé français et nous présenterons quelques applications pertinentes. Pour conclure, nous commenterons la mise en pratique de cette réforme et la collaboration des différentes instances réglementaires
La création de chanson : une voix pour apprendre et se réaliser ?
Professorat des lycées et collègesLa création de chanson avec les élèves, s'effectue souvent lors d'ateliers ou de travaux croisés interdisciplinaires. La problématique majeure de ce mémoire, consiste à savoir si la création d'une chanson avec les élèves peut ou non être envisagée en classe . Le travail qui suit, concerne les classes de 6ème 2 et 3ème 4 du collège de la Robertsau à Strasbourg. L'une et l'autre, si différentes, tentent de créer le texte et la musique d'une chanson. Le sujet choisi par les 3èmes, se réfère au thème de la violence dans notre société, celui des 6ème au monde imaginaire. Un seul de ces deux projets aboutira ; l'un ne donnera naissance qu'au texte de la dite chanson, constitué de phrases éparses. Comparant deux démarches différentes de création, ce mémoire se propose de relater le cheminement parcouru, d'analyser les erreurs ou les intérêts susceptibles d'être exploités afin d'envisager un travail en classe
Endoscopic treatment of chronic pancreatitis
Treatment of chronic pancreatitis has been exclusively surgical for a long time. Recently, endoscopic therapy has become widely used as a primary therapeutic option. Initially performed for drainage of pancreatic cysts and pseudocysts, endoscopic treatments were adapted to biliary and pancreatic ducts stenosis. Pancreatic sphincterotomy which allows access to pancreatic ducts was firstly reported. Secondly, endoscopic methods of stenting, dilatation, and stones extraction of the bile ducts were applied to pancreatic ducts. Nevertheless, new improvements were necessary: failures of pancreatic stone extraction justified the development of extra-corporeal shock wave lithotripsy; dilatation of pancreatic stenosis was improved by forage with a new device; moreover endosonography allowed guidance for celiac block, gastro-cystostomy, duodeno-cystostomy and pancreatico-gastrostomy. Although endoscopic treatments are more and more frequently accepted, indications are still debated
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