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": {
"@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": {
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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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"name": "Y a-t-il des complications oculaires ?",
"position": 8,
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"text": "Des complications comme des tumeurs de la rétine peuvent se produire."
}
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{
"@type": "Question",
"name": "Comment les douleurs sont-elles ressenties ?",
"position": 9,
"acceptedAnswer": {
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"text": "Les douleurs peuvent être localisées autour des neurofibromes ou diffuses."
}
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{
"@type": "Question",
"name": "Les symptômes varient-ils d'une personne à l'autre ?",
"position": 10,
"acceptedAnswer": {
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"text": "Oui, l'expression des symptômes peut varier considérablement entre les individus."
}
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"@type": "Question",
"name": "Peut-on prévenir la neurofibromatose de type 1 ?",
"position": 11,
"acceptedAnswer": {
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"text": "Actuellement, il n'existe pas de méthode de prévention pour cette maladie génétique."
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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."
}
},
{
"@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."
}
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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" :
Water analyses in conjunction with hydrological and geotechnical investigations were carried out to assess the potential for groundwater contamination from the decomposition of buried human bodies. Wa...
Early literacy skills, the foundational abilities necessary for the development of literacy, must be examined holistically in preschool children. This study aimed to investigate early literacy skills ...
Chalazion may affect visual acuity. This study aimed to evaluate refractive status of chalazia and effect of different sites, sizes, and numbers of chalazion on astigmatism....
Three hundred ninety-eight patients aged 0.5-6 years were divided into the chalazion group (491 eyes) and the control group (305 eyes). Chalazia were classified according to the site, size, and number...
The incidence, type, refractive mean and of astigmatism in the chalazion group were higher than those in the control group, and the difference was statistically significant (P < 0.05). For comparison ...
Chalazia in children can easily lead to astigmatism, especially AR and OBL. Chalazia in the middle-upper eyelid, size ≥3 mm, and multiple chalazia (especially two masses) are risk factors of astigmati...
Cartilages of the nasal septum, knee joint, rib, and nucleus pulposus of the intervertebral disc, as well as trypsinized and defective cartilage samples, were examined as samples. The IR spectra of th...
The IR spectra of cartilage tissues are a superposition of the IR spectra of collagen and chondroitin sulfate and qualitatively reflect their composition. A change in the ratio between the relative in...
IR spectrometric express analysis of cartilage tissue employing the principal component regression method allows a correct determination of the ratio of the main components in the cartilage matrix, th...
Preventing malnutrition is one of the primary objectives of many humanitarian agencies, and household surveys are regularly employed to monitor food insecurity caused by political, economic, or enviro...
Preoperative prediction of visceral pleural invasion (VPI) is important because it enables thoracic surgeons to choose appropriate surgical plans. This study aimed to develop and validate a multivaria...
A total of 140 patients with subpleural clinical stage IA peripheral lung adenocarcinoma were recruited and divided into a training set (n = 98) and a validation set (n = 42), according to the positro...
The size of the solid component, the consolidation-to-tumor ratio, the solid component pleural contact length, the SUVmax, the density type, the pleural indentation, the spiculation, and the vascular ...
The nomogram integrating the SUV...
Paracoccidioidomycosis (PCM) is a systemic mycosis with high incidence in Latin America, caused by species of the genus Paracoccidioides spp. Brazil is considered to be the endemic center of this dise...
Numerous studies elucidated material behavior based on compression analyses. Especially compressibility, compactibility and tabletability were in the focus of these investigations. In the present stud...
The curriculum system is a central component in achieving the goals and specifications of talent training schemes. However, problems and difficulties exist in curriculum provision due to a lack of cur...
A total of 699 stomatology graduates from a university in Zhejiang were selected as research subjects from 2015 to 2022. The students' curriculum system and graduate quality data were collected and cl...
Regression analysis revealed significant associations between general education, specialization, and stomatology X courses and NBDE score, postgraduate entrance rate and destination, and work institut...
Increasing the quality of specialized and stomatology X courses in the curriculum system is beneficial for deepening graduates' expertise and enhancing their education. Moreover, English courses are s...
This study evaluated the determinants of disability and quality of life in elderly people who participated at the multi-centred RubiN project (Regional ununterbrochen betreut im Netz) in Germany....
Baseline data of the subjects aged 70 years and older of the RubiN project were used and only subjects with complete data sets were considered for the ensuing analysis (complete case analysis (CCA)). ...
One thousand three hundred seventy-five subjects from the RubiN project exhibited data completeness regarding baseline data. ADL and IADL disability were both associated with the respective other cons...
Several potential determinants of disability and quality of life were identified and confirmed in this study. Attention should be drawn to prevention schemes as many of these determinants appear to be...