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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}
},
{
"@type": "Question",
"name": "Quels tests génétiques sont utilisés ?",
"position": 2,
"acceptedAnswer": {
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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."
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},
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"@type": "Question",
"name": "Les IRM sont-elles utiles pour le diagnostic ?",
"position": 4,
"acceptedAnswer": {
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"@type": "Question",
"name": "Quel rôle joue l'historique familial ?",
"position": 5,
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"position": 6,
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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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{
"@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."
}
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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" :
Lesion locations of post-stroke depression (PSD) mapped to a depression circuit which centered by the left dorsolateral prefrontal cortex (DLPFC). However, it remains unknown whether the compensatory ...
Rs-fMRI data were collected from 82 non-depressed stroke patients (Stroke), 39 PSD patients and 74 healthy controls (HC). We tested the existence of depression circuit, examined PSD-related alteration...
We found that: 1) the left DLPFC showed significantly stronger connectivity to lesions of PSD than Stroke group; 2) in comparison to both Stroke and HC groups, PSD exhibited increased connectivity wit...
Longitudinal studies are required to explore the alterations of depression circuit in PSD as the disease progress....
PSD underwent specific alterations in depression circuit, which may help to establish objective imaging markers for early diagnosis and interventions of the disease....
Mood disturbances have historically remained a core criterion in diagnosing major depressive episode. DSMs have illustrated this criterion with depressed, hopeless, discouraged, cheerless, and irritab...
The current study used a nationally representative sample of U.S. adults with unipolar major depressive disorder to study the association between specific forms of mood disturbances to depression seve...
Cheerless and hopeless mood were associated with depression severity. Hopeless and irritable mood were associated with depression chronicity. Different forms of mood disturbance showed differential re...
The relations between different forms of mood disturbances and various aspects of depression are nuanced. Theoretically, these relations highlight the potential utility in acknowledging the complexity...
With almost one-third of patients with major depression not adequately responsive to treatments, the management of treatment-resistant depression (TRD) has continued to be challenging. Recently, an es...
In the STAR*D study, the efficacy of treatments for major depression was examined. It was found that, while many responded to the initial antidepressant treatment, only 30% of participants achieved co...
Restoring AHI1 in macrophages may improve antiviral immunity in patients with depression....
Depressive disorders encompass a spectrum of diagnoses and are more common in women and transgender individuals. Diagnosis involves thorough history-taking and exclusion of underlying medical disorder...
To review and summarize the literature published between 1 January 2020 and 30 June 2022, on the prevalence, risk factors and impact of depression in transplant population....
Depression is common in transplantation candidates and recipients, with a prevalence up to 85.8% in kidney recipients. Multiple studies have indicated after transplantation depression correlates with ...
Depression is a common finding in transplant population. More research is needed to understand the biological substrate and risk factors and to develop effective treatment interventions....
The goal of this study was to explore the coping strategies of depression sufferers that have worked for them based on the study of an online depression community....
We conducted a thematic narrative analysis of 120 stories posted by the members in the largest online depression community in China. MaxQDA version 18 was used to code the data, and the analytic appro...
The study found that the coping strategies mainly include self-reconciliation (e.g., perceiving/accepting feelings, accepting the present self, and holding hope for the future), actions (recreational ...
The findings revealed the coping strategies that were helpful and examined how they functioned for the affected members, which make up for the lack of attention to the individual experiences of depres...
Evidence-based treatments for adult depression include psychotherapy and pharmacotherapy, yet little is known about how baseline depression severity moderates treatment outcome....
We aimed to compare the effects of psychotherapy and pharmacotherapy for adult depression and to examine the association between baseline depression severity and treatment outcome, converting multiple...
We conducted systematic searches in bibliographical databases up to September 2022 to identify randomized controlled trials (RCTs) in which psychotherapy was compared with pharmacotherapy in the treat...
We identified 65 RCTs including 7250 participants for the meta-analyses and 56 RCTs including 5548 participants for the meta-regression. We found no significant difference between psychotherapy and ph...
Limitations included the low quality of the included studies, and the omission of long-term effects and within-study variability....
We found no indication for a moderation effect of baseline depression severity on the relative effects of psychotherapy and pharmacotherapy. Thus, other factors such as availability and patients' pref...
Depression is a leading cause of disability, affecting approximately 300 million people globally [...]....