questionsmedicales.fr
Acides aminés, peptides et protéines
Protéines
Protéines tumorales
Protéines suppresseurs de tumeurs
Neurofibromine-1
Neurofibromine-1 : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Neurofibromatose
Diagnostic médical
Tests génétiques
Mutation génétique
Imagerie par résonance magnétique
Tumeurs nerveuses
Antécédents familiaux
Neurofibromatose
Symptômes
5
Troubles cognitifs
Neurofibromatose
Complications oculaires
Tumeurs rétiniennes
Variabilité des symptômes
Neurofibromatose
Prévention
5
Prévention
Maladies génétiques
Conseils génétiques
Antécédents familiaux
Tests génétiques
Prévention
Sensibilisation
Éducation à la santé
Traitements
5
Médicaments
Gestion de la douleur
Thérapies ciblées
Recherche médicale
Suivi médical
Neurofibromatose
Complications
5
Complications
Tumeurs malignes
Qualité de vie
Complications
Gestion des complications
Suivi médical
Prévisibilité
Complications
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Hérédité
Neurofibromatose
Facteurs environnementaux
Risque
Mutations génétiques
Gène NF1
Groupes à risque
Antécédents familiaux
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"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": {
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"text": "Des tests génétiques peuvent identifier des mutations dans le gène NF1."
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},
{
"@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": {
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"text": "Oui, les IRM peuvent détecter des tumeurs et des anomalies nerveuses."
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"@type": "Question",
"name": "Quel rôle joue l'historique familial ?",
"position": 5,
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"position": 7,
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"position": 8,
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"text": "Des complications comme des tumeurs de la rétine peuvent se produire."
}
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{
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"name": "Comment les douleurs sont-elles ressenties ?",
"position": 9,
"acceptedAnswer": {
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}
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{
"@type": "Question",
"name": "Les symptômes varient-ils d'une personne à l'autre ?",
"position": 10,
"acceptedAnswer": {
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"@type": "Question",
"name": "Peut-on prévenir la neurofibromatose de type 1 ?",
"position": 11,
"acceptedAnswer": {
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{
"@type": "Question",
"name": "Le dépistage précoce est-il recommandé ?",
"position": 12,
"acceptedAnswer": {
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"text": "Le dépistage précoce peut aider à identifier les symptômes et à initier le suivi."
}
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{
"@type": "Question",
"name": "Y a-t-il des conseils pour les familles à risque ?",
"position": 13,
"acceptedAnswer": {
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"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."
}
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{
"@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."
}
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}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 11/03/2025
Contenu vérifié selon les dernières recommandations médicales
4 publications dans cette catégorie
Affiliations :
Department of Neuroscience and Pharmacology, University of Iowa Carver College of Medicine, Iowa City, Iowa, United States of America.
Publications dans "Neurofibromine-1" :
3 publications dans cette catégorie
Affiliations :
Centre de Biophysique Moléculaire, CNRS, UPR 4301, University of Orléans and INSERM, CEDEX 2, 45071 Orléans, France.
Publications dans "Neurofibromine-1" :
3 publications dans cette catégorie
Affiliations :
NCI RAS Initiative, Cancer Research Technology Program, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research, Inc., Frederick, MD 21701, USA.
Publications dans "Neurofibromine-1" :
3 publications dans cette catégorie
Affiliations :
NCI RAS Initiative, Cancer Research Technology Program, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research, Inc., Frederick, MD 21701, USA.
Publications dans "Neurofibromine-1" :
3 publications dans cette catégorie
Affiliations :
NCI RAS Initiative, Cancer Research Technology Program, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research, Inc., Frederick, MD 21701, USA.
Publications dans "Neurofibromine-1" :
3 publications dans cette catégorie
Affiliations :
NCI RAS Initiative, Cancer Research Technology Program, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research, Inc., Frederick, MD 21701, USA; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94158, USA. Electronic address: frank.mccormick@ucsf.edu.
Publications dans "Neurofibromine-1" :
3 publications dans cette catégorie
Affiliations :
Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Publications dans "Neurofibromine-1" :
3 publications dans cette catégorie
Affiliations :
Department of Neuroscience, The Scripps Research Institute, Scripps Florida, Jupiter, FL, USA. stomchik@scripps.edu.
Publications dans "Neurofibromine-1" :
2 publications dans cette catégorie
Affiliations :
Department of Biology, Texas A&M University, College Station, Texas, United States of America.
Department of Biological Sciences, Florida State University, Tallahassee, Florida, United States of America.
Publications dans "Neurofibromine-1" :
2 publications dans cette catégorie
Affiliations :
Department of Biology, Texas A&M University, College Station, Texas, United States of America.
Publications dans "Neurofibromine-1" :
2 publications dans cette catégorie
Affiliations :
Institute for Biomedical Research of Salamanca (IBSAL), 37007 Salamanca, Spain.
Laboratory of Functional Genetics of Rare Diseases, Department of Microbiology and Genetics, University of Salamanca, 37007 Salamanca, Spain.
Publications dans "Neurofibromine-1" :
2 publications dans cette catégorie
Affiliations :
Institute for Biomedical Research of Salamanca (IBSAL), 37007 Salamanca, Spain.
Laboratory of Functional Genetics of Rare Diseases, Department of Microbiology and Genetics, University of Salamanca, 37007 Salamanca, Spain.
Publications dans "Neurofibromine-1" :
2 publications dans cette catégorie
Affiliations :
Centre de Biophysique Moléculaire, CNRS, UPR 4301, University of Orléans and INSERM, CEDEX 2, 45071 Orléans, France.
Publications dans "Neurofibromine-1" :
2 publications dans cette catégorie
Affiliations :
Centre de Biophysique Moléculaire, CNRS, UPR 4301, University of Orléans and INSERM, CEDEX 2, 45071 Orléans, France.
Publications dans "Neurofibromine-1" :
2 publications dans cette catégorie
Affiliations :
Centre de Biophysique Moléculaire, CNRS, UPR 4301, University of Orléans and INSERM, CEDEX 2, 45071 Orléans, France.
Publications dans "Neurofibromine-1" :
2 publications dans cette catégorie
Affiliations :
Centre de Biophysique Moléculaire, CNRS, UPR 4301, University of Orléans and INSERM, CEDEX 2, 45071 Orléans, France.
Publications dans "Neurofibromine-1" :
2 publications dans cette catégorie
Affiliations :
Centre de Biophysique Moléculaire, CNRS, UPR 4301, University of Orléans and INSERM, CEDEX 2, 45071 Orléans, France.
Publications dans "Neurofibromine-1" :
2 publications dans cette catégorie
Affiliations :
Institute of Biological Chemistry, Biocenter, Medical University of Innsbruck, 6020 Innsbruck, Austria.
Publications dans "Neurofibromine-1" :
2 publications dans cette catégorie
Affiliations :
Musculoskeletal Development and Regeneration Group, Institute of Chemistry and Biochemistry, Freie Universität Berlin, 14195, Berlin, Germany.
Max Planck Institute for Molecular Genetics, 14195, Berlin, Germany.
Publications dans "Neurofibromine-1" :
2 publications dans cette catégorie
Affiliations :
Musculoskeletal Development and Regeneration Group, Institute of Chemistry and Biochemistry, Freie Universität Berlin, 14195, Berlin, Germany.
Max Planck Institute for Molecular Genetics, 14195, Berlin, Germany.
Publications dans "Neurofibromine-1" :
Mobile health applications (apps) can help individuals with knee and/or hip osteoarthritis (OA) learn about, monitor, and manage their condition. These apps have not been formally evaluated....
The aim of this study was to evaluate the publicly available mobile health apps for individuals with knee and/or hip OA using a systematic review....
We searched the Apple App Store, Android Google Play, and Amazon Appstore using the terms "arthritis," "osteoarthritis," "hip OA," "knee OA," "hip," "knee," "rehabilitation," "rehab," and "physical th...
Among 1104 identified apps, 94 met the inclusion/exclusion criteria for MARS appraisal. Fourteen apps met the predetermined score thresholds for final summary. Of the 14 apps appraised, the total over...
The majority of the apps we identified for knee and/or hip OA did not meet predetermined score thresholds for final summary. Many failed to provide comprehensive education and deliver management plans...
There has been an increase in the number of healthcare-related applications targeted at patients for use on mobile phones. With an increasing proportion of the population using such applications, it i...
The use of mobile applications for dietary purposes has dramatically increased along with the consistent development of mobile technology. Assessing diet quality as a dietary pattern or an indicator a...
The aim of this study was to examine the existing mobile applications focused on sexual health and analyze the included content and therapeutic techniques. Three databases with mobile applications wer...
Mobile applications can facilitate or improve gastrointestinal surgical care by benefiting patients, healthcare providers, or both. The extent to which applications are currently in use in gastrointes...
The PubMed, EMBASE and Cochrane databases were searched for articles up to October 6th 2022. Articles were considered eligible if they assessed or described mobile applications used in a gastrointesti...
Thirty-eight articles describing twenty-nine applications were included. The applications were classified into seven categories: monitoring, weight loss, postoperative recovery, education, communicati...
The interest for applications and their use in gastrointestinal surgery is increasing. From our study, it appears that most studies using applications fail to report adequate clinical evaluation, and ...
Colorectal cancer (CRC) is the third leading cause of cancer and the second cause of cancer-related deaths in the world. Despite the infrastructure and the availability of organized screening programs...
The present research was conducted in two phases: software design and evaluation. In the first phase, the software was prepared using the cascade method. First, all the educational content related to ...
In the software evaluation phase, the application was used by 204 users. In this stage, 84 (41.2%) women and 120 (58.8%) men, with an average (Standard Deviation) age of 47.53 (13.68) participated. Pa...
The results of the research indicated the positive impact of the Colon Cancer Application on the abilities of the users of self-assessment of colon cancer. Therefore, based on the findings, it can be ...
This study was registered in the Iranian Registry of Clinical Trials ( https://irct.behdasht.gov.ir ) on 13/2/2024, with the IRCT ID: IRCT20210131050189N9....
Mobile applications (apps) are multiplying in laryngology, with little standardization of content, functionality, or accessibility. The purpose of this study is to evaluate the quality, functionality,...
Of the 3230 apps identified from the Apple and Google Play stores, 28 patient-facing apps met inclusion criteria. Apps were evaluated using validated scales assessing quality and functionality: the Mo...
Twenty-six apps (92%) had adequate quality (MARS score > 3). The mean PEMAT score was 89% for actionability and 86% for understandability. On average, apps utilized 25/33 health literate strategies. T...
While most apps scored well in quality and functionality, many laryngology apps did not meet standards for health literacy. Most apps were written at a reading level above the national average, lacked...
The proliferation of mobile health (mHealth) applications is partly driven by the advancements in sensing and communication technologies, as well as the integration of artificial intelligence techniqu...
The goal of this scoping review is to gain an understanding of FL and its potential in dealing with sensitive and heterogeneous data in mHealth applications. Through this review, various stakeholders,...
We conducted a scoping review following the guidelines of PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews). We searched 7 commonly used dat...
A total of 1095 articles were retrieved during the database search, and 26 articles that met the inclusion criteria were included in the review. The analysis of these articles revealed 2 main applicat...
This scoping review has highlighted the potential of FL as a privacy-preserving approach in mHealth applications and identified the technical limitations associated with its use. The challenges and op...
Irritable Bowel Syndrome (IBS) is a chronic functional gastrointestinal disorder that represents a significant public health problem due to the impact it produces on quality of life. Recommended treat...
To develop a mobile health application (mHealth) accessible to deaf adolescents, based on their health card, promoting autonomy to the access to the user's health information....
This was a methodological study, divided into three stages: a questionnaire to understand the knowledge of deaf adolescents about the health card, and development of the application using videos in Br...
Most deaf adolescents were not aware of the health card. The application has two interface modes: male and female card, with the particularities of each sex. Furthermore, user's data security is carri...
The application provides information from the health card in text and video in Libras, according to the selected sex, promoting adolescents' autonomy in accessing health information. Future implementa...