Titre : Neurofibromine-1

Neurofibromine-1 : Questions médicales fréquentes

Termes MeSH sélectionnés :

Point-of-Care Testing
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d'une personne à l'autre ?", "url": "https://questionsmedicales.fr/mesh/D025542?mesh_terms=Point-of-Care+Testing&page=5#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Neurofibromine-1", "description": "Peut-on prévenir la neurofibromatose de type 1 ?\nLe dépistage précoce est-il recommandé ?\nY a-t-il des conseils pour les familles à risque ?\nLes tests génétiques sont-ils utiles pour la prévention ?\nComment sensibiliser à la maladie ?", "url": "https://questionsmedicales.fr/mesh/D025542?mesh_terms=Point-of-Care+Testing&page=5#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Neurofibromine-1", "description": "Quels traitements sont disponibles pour la neurofibromatose ?\nLa chirurgie est-elle toujours nécessaire ?\nDes médicaments sont-ils prescrits ?\nY a-t-il des thérapies ciblées ?\nComment se déroule le suivi médical ?", "url": "https://questionsmedicales.fr/mesh/D025542?mesh_terms=Point-of-Care+Testing&page=5#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Neurofibromine-1", "description": "Quelles sont les complications possibles ?\nLes complications peuvent-elles affecter la qualité de vie ?\nY a-t-il des risques de cancer associés ?\nComment gérer les complications ?\nLes complications sont-elles prévisibles ?", "url": "https://questionsmedicales.fr/mesh/D025542?mesh_terms=Point-of-Care+Testing&page=5#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Neurofibromine-1", "description": "Quels sont les facteurs de risque de la neurofibromatose ?\nLa neurofibromatose est-elle héréditaire ?\nLes facteurs environnementaux jouent-ils un rôle ?\nLes mutations génétiques sont-elles fréquentes ?\nY a-t-il des groupes à risque particulier ?", "url": "https://questionsmedicales.fr/mesh/D025542?mesh_terms=Point-of-Care+Testing&page=5#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer la neurofibromatose de type 1 ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic repose sur l'examen clinique et l'identification de critères spécifiques." } }, { "@type": "Question", "name": "Quels tests génétiques sont utilisés ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests génétiques peuvent identifier des mutations dans le gène NF1." } }, { "@type": "Question", "name": "Quels signes cliniques sont observés ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Les signes incluent des neurofibromes, des taches café au lait et des frecklings." } }, { "@type": "Question", "name": "Les IRM sont-elles utiles pour le diagnostic ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les IRM peuvent détecter des tumeurs et des anomalies nerveuses." } }, { "@type": "Question", "name": "Quel rôle joue l'historique familial ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Un historique familial de neurofibromatose peut renforcer le diagnostic." } }, { "@type": "Question", "name": "Quels sont les symptômes courants de la neurofibromatose ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent des neurofibromes, des taches cutanées et des douleurs." } }, { "@type": "Question", "name": "Les troubles cognitifs sont-ils fréquents ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles d'apprentissage et des difficultés cognitives peuvent survenir." } }, { "@type": "Question", "name": "Y a-t-il des complications oculaires ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Des complications comme des tumeurs de la rétine peuvent se produire." } }, { "@type": "Question", "name": "Comment les douleurs sont-elles ressenties ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Les douleurs peuvent être localisées autour des neurofibromes ou diffuses." } }, { "@type": "Question", "name": "Les symptômes varient-ils d'une personne à l'autre ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'expression des symptômes peut varier considérablement entre les individus." } }, { "@type": "Question", "name": "Peut-on prévenir la neurofibromatose de type 1 ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, il n'existe pas de méthode de prévention pour cette maladie génétique." } }, { "@type": "Question", "name": "Le dépistage précoce est-il recommandé ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Le dépistage précoce peut aider à identifier les symptômes et à initier le suivi." } }, { "@type": "Question", "name": "Y a-t-il des conseils pour les familles à risque ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Les familles à risque devraient consulter un généticien pour des conseils adaptés." } }, { "@type": "Question", "name": "Les tests génétiques sont-ils utiles pour la prévention ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les tests génétiques peuvent aider à identifier les porteurs de mutations." } }, { "@type": "Question", "name": "Comment sensibiliser à la maladie ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "La sensibilisation peut se faire par des campagnes d'information et des ressources éducatives." } }, { "@type": "Question", "name": "Quels traitements sont disponibles pour la neurofibromatose ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements incluent la surveillance, la chirurgie et la gestion des symptômes." } }, { "@type": "Question", "name": "La chirurgie est-elle toujours nécessaire ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Non, la chirurgie est réservée aux cas où les neurofibromes causent des problèmes." } }, { "@type": "Question", "name": "Des médicaments sont-ils prescrits ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Des médicaments peuvent être utilisés pour gérer la douleur et d'autres symptômes." } }, { "@type": "Question", "name": "Y a-t-il des thérapies ciblées ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Des recherches sont en cours sur des thérapies ciblées pour la neurofibromatose." } }, { "@type": "Question", "name": "Comment se déroule le suivi médical ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Le suivi médical régulier est essentiel pour surveiller l'évolution de la maladie." } }, { "@type": "Question", "name": "Quelles sont les complications possibles ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des tumeurs malignes, des problèmes neurologiques et des douleurs." } }, { "@type": "Question", "name": "Les complications peuvent-elles affecter la qualité de vie ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les complications peuvent significativement impacter la qualité de vie des patients." } }, { "@type": "Question", "name": "Y a-t-il des risques de cancer associés ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les patients ont un risque accru de développer certains types de cancer." } }, { "@type": "Question", "name": "Comment gérer les complications ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "La gestion des complications nécessite une approche multidisciplinaire et un suivi régulier." } }, { "@type": "Question", "name": "Les complications sont-elles prévisibles ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Certaines complications peuvent être prévisibles, mais leur apparition varie selon les individus." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque de la neurofibromatose ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs incluent des antécédents familiaux et des mutations génétiques spécifiques." } }, { "@type": "Question", "name": "La neurofibromatose est-elle héréditaire ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la neurofibromatose de type 1 est généralement héréditaire et autosomique dominante." } }, { "@type": "Question", "name": "Les facteurs environnementaux jouent-ils un rôle ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, les facteurs environnementaux ne sont pas clairement établis comme des risques." } }, { "@type": "Question", "name": "Les mutations génétiques sont-elles fréquentes ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les mutations dans le gène NF1 sont fréquentes chez les personnes atteintes." } }, { "@type": "Question", "name": "Y a-t-il des groupes à risque particulier ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Les individus ayant des antécédents familiaux sont à risque accru de développer la maladie." } } ] } ] }

Sources (10000 au total)

Rapid respiratory microbiological point-of-care-testing and antibiotic prescribing in primary care: Protocol for the RAPID-TEST randomised controlled trial.

Antibiotics are prescribed for over 50% of respiratory tract infections in primary care, despite good evidence of there being no benefit to the patient, and evidence of over prescribing driving microb... This is a multi-centre, individually randomised controlled trial with mixed-methods investigation of microbial, behavioural and antibiotic mechanisms on outcomes in patients aged 12 months and over pr... This trial will provide evidence of efficacy, acceptability and mechanisms of action of a rapid microbiological point-of-care test on antibiotic prescribing and patient symptoms in primary care.... ISRCTN16039192, prospectively registered on 08/11/2022....

Laboratory Evaluation of the VISITECT Advanced Disease Semiquantitative Point-of-Care CD4 Test.

Advanced HIV disease (AHD; CD4 counts <200 cells/µL) remains common in many low- and middle-income settings. An instrument-free point-of-care test to rapidly identify patients with AHD would facilitat... A laboratory validation study.... Venous blood samples from people living with HIV having baseline CD4 testing in Gaborone, Botswana, underwent routine testing using flow cytometry, followed by testing with the VISITECT CD4 Advanced D... One thousand fifty-three samples were included in the analysis. The VISITECT test correctly identified 112/119 samples as having a CD4 count <200 cells/µL, giving a sensitivity of 94.1% (95% confidenc... The VISITECT CD4 advanced disease reliably identified individuals with low CD4 counts and could facilitate implementation of the WHO recommended package of interventions for AHD....

Prehospital use of point-of-care tests by community health workers: a scoping review.

Point-of-Care Tests (POCTs) are utilized daily in resource abundant regions, however, are limited in the global south, particularly in the prehospital setting. Few studies exist on the use of non-mala... A medical subject heading (MeSH) analysis of known key articles was done by an experienced medical librarian and scoping searches were performed in each database to capture "point of care testing" and... 2735 publications were returned, 185 were nominated for full-text review, and 110 studies were confirmed to meet study criteria. Majority focused on malaria (74/110; 67%) or HIV (25/110; 23%); 9/110 (... The use of new POCTs is on the rise and may improve early risk stratification in limited resource settings. Current evidence from decades of malaria POCTs can guide future implementation strategies....

Biomarkers as point-of-care tests to guide prescription of antibiotics in people with acute respiratory infections in primary care.

Acute respiratory infections (ARIs) are by far the most common reason for prescribing an antibiotic in primary care, even though the majority of ARIs are of viral or non-severe bacterial aetiology. It... To assess the benefits and harms of point-of-care biomarker tests of inflammation to guide antibiotic treatment in people presenting with symptoms of acute respiratory infections in primary care setti... We searched CENTRAL (2022, Issue 6), MEDLINE (1946 to 14 June 2022), Embase (1974 to 14 June 2022), CINAHL (1981 to 14 June 2022), Web of Science (1955 to 14 June 2022), and LILACS (1982 to 14 June 20... We included randomised controlled trials (RCTs) in primary care patients with ARIs that compared the use of point-of-care biomarkers with standard care. We included trials that randomised individual p... Two review authors independently extracted data on the following primary outcomes: number of participants given an antibiotic prescription at index consultation and within 28 days follow-up; participa... We included seven new trials in this update, for a total of 13 included trials. Twelve trials (10,218 participants in total, 2335 of which were children) evaluated a C-reactive protein point-of-care t... The use of C-reactive protein point-of-care tests as an adjunct to standard care likely reduces the number of participants given an antibiotic prescription in primary care patients who present with sy...

CercaTest Red, a novel urine-based point-of-care test for the detection of preeclampsia.

Preeclampsia (PE) poses a serious threat to the health of the pregnant woman and her developing fetus due to the difficulty in diagnosing the condition. The disease can develop and worsen suddenly wit... The kit employs an absorptive column that separates Congo red dye bound to urinary misfolded protein from pregnant women and unbound dye. When a solution of Congo red dye pre-mixed with urine is loade... The POCT has a limit of detection (LoD) of human urinary misfolded proteins equivalent to 0.45 μM of denatured human serum albumin, with high reproducibility and stability. An accuracy of 96.84% for d... This test is easy to use, cost-effective and portable with short turnaround time and no laboratory instrument requirement. In the future, the test may have the potential to become quantitative using s...