Titre : Neurofibromine-1

Neurofibromine-1 : Questions médicales fréquentes

Termes MeSH sélectionnés :

Point-of-Care Testing
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Questions et réponses", "headline": "Questions et réponses médicales fréquentes sur Neurofibromine-1", "description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.", "datePublished": "2025-05-09", "inLanguage": "fr", "hasPart": [ { "@type": "MedicalWebPage", "name": "Diagnostic", "headline": "Diagnostic sur Neurofibromine-1", "description": "Comment diagnostiquer la neurofibromatose de type 1 ?\nQuels tests génétiques sont utilisés ?\nQuels signes cliniques sont observés ?\nLes IRM sont-elles utiles pour le diagnostic ?\nQuel rôle joue l'historique familial ?", "url": "https://questionsmedicales.fr/mesh/D025542?mesh_terms=Point-of-Care+Testing&page=3#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Neurofibromine-1", "description": "Quels sont les symptômes courants de la neurofibromatose ?\nLes troubles cognitifs sont-ils fréquents ?\nY a-t-il des complications oculaires ?\nComment les douleurs sont-elles ressenties ?\nLes symptômes varient-ils d'une personne à l'autre ?", "url": "https://questionsmedicales.fr/mesh/D025542?mesh_terms=Point-of-Care+Testing&page=3#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=3#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=3#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=3#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=3#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)

Establishing quality indicators for point of care glucose testing: recommendations from the Canadian Society for Clinical Chemists Point of Care Testing and Quality Indicators Special Interest Groups.

Monitoring quality indicators (QIs) is an important part of laboratory quality assurance (QA). Here, the Canadian Society of Clinical Chemists (CSCC) Point of Care Testing (POCT) and QI Special Intere... Key, error prone steps in the POCT glucose testing process were collaboratively mapped out, followed by risk assessment for each step. Steps with the highest risk and ability to detect a non-conforman... The percentage of POCT glucose tests performed without valid PPID ranged from 0-87%. Sites without Admission-Discharge-Transfer (ADT) connectivity to POCT meters were among those with the highest perc... Here, a process for establishing these QIs is described, with preliminary data for two QIs chosen from this process. The findings demonstrate the importance of QIs for identification and comparative p...

HBA1C point-of-care testing for diabetes control in a low-income population: A before and after study and cost-parity analysis HbA1c point-of-care testing for diabetes control.

To evaluate the results of a program that offered access to HbA1c POC tests for the glycemic control of patients with diabetes in small and poor municipalities of Minas Gerais, Brazil.... Using a before and after study, we compared four groups: patients submitted to (i) POC tests; (ii) conventional tests; (iii) both tests; and (iv) neither test. The analysis considered three periods: b... 1349 patients previously diagnosed with diabetes were included in the analysis. The rate of consultations and the rate of HbA1c testing were significantly different between all periods and groups. Gro... Using POC devices improved access to HbA1c testing but not glycemic control. Even in small towns, the number of tests necessary to achieve cost-parity is low enough to enable their incorporation into ...

Point-of-care testing performed by healthcare professionals outside the hospital setting: consensus based recommendations from the IFCC Committee on Point-of-Care Testing (IFCC C-POCT).

The International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) Committee on Point-of-Care Testing (C-POCT) supports the use of point-of-care testing (POCT) outside of the hospital s...

Field evaluation of a point-of-care triage test for active tuberculosis (TriageTB).

To improve tuberculosis (TB) diagnosis, the World Health Organisation (WHO) has called for a non-sputum based triage test to focus TB testing on people with a high likelihood of having active pulmonar... This observational diagnostic study will evaluate sensitivity and specificity of biomarker-based diagnostic candidates including the MBT and Xpert® TB Fingerstick cartridge compared with a gold-standa... By targeting confirmatory TB testing to those with a positive triage test, 75% of negative GXPU may be avoided, thereby reducing diagnostic costs and patient losses during the care cascade. This study... NCT04232618 (clinicaltrials.gov) Date of registration: 16 January 2020....