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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},
{
"@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": 6,
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"position": 7,
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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": {
"@type": "Answer",
"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": {
"@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."
}
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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" :
To investigate the effect of modified colonoscopy nursing pads in colonoscopy....
A total of 262 subjects who underwent colonoscopy at our endoscopy center between September 1, 2021 and February 28, 2022 were selected and randomly divided into a control group and an experimental gr...
The success rate of the first correct position of the examinees in the experimental group was significantly higher than that of the control group (P < 0.05), and the time spent by the nurses to guide ...
The modified colonoscopy nursing pad can save the time of correct colonoscopy positioning of examinees, improve the efficiency of colonoscopy, reduce the workload of nursing staff, effectively protect...
The EndoRings device is a distal attachment consisting of two layers of circular flexible rings that evert mucosal folds. The aim of this study was to investigate whether EndoRing assisted colonoscopy...
Multicenter, parallel group, randomized controlled trial....
Total of 556 patients randomized to ER (n = 275) or SC (n = 281). Colonoscopy completed in 532/556 (96%) cases. EndoRings removed in 74/275 (27%) patients. Total number of polyps in ER limb 582 vs. 51...
Our study shows promise for the EndoRings device to improve polyp detection....
With increasing life expectancy, there is an increasing proportion of nonagenarians undergoing both elective and emergency surgical procedures. The decision as to whom will benefit from surgical proce...
Retrospective study of patients of Dr. G.R (Gastroenterologist) and Dr. W.B (Colorectal Surgeon) between 1 January 2018 and 31 November 2022. All patients who were ≥90 years old and had a colonoscopy ...
post-colonoscopy complications and length of stay....
reasons for colonoscopy, significant colonoscopy findings, 30-day morbidity and mortality....
Sixty patients were included in the study. Median age was 91 (90-100) years old. 33.3% of the patients were males. Seventy percent of the patients were ASA 3. Median length of hospital stay was 1 day....
Colonoscopy can be performed safely in carefully selected nonagenarian patients with acceptable low complication rates....
Artificial intelligence (AI) is a rapidly growing field in gastrointestinal endoscopy, and its potential applications are virtually endless, with studies demonstrating use of AI for early gastric canc...
Multiple randomized controlled trials have now been published which show a statistically significant improvement when using AI to improve adenoma detection and reduce adenoma miss rates during colonos...
Cecal intubation may be unsuccessful by conventional colonoscopy in some patients. Single-balloon-assisted colonoscopy (SBC) and cap-assisted colonoscopy (CAC) were studied to solve this problem. Ther...
We conducted a randomized study from 2018 to 2021 to compare cecal intubation rate of SBC and CAC in patients with previous incomplete conventional colonoscopy. We recruited patients with incomplete c...
Forty-four patients were recruited. Cecal intubation rate was superior in SBC group (22/22, 100%) than CAC group (16/22, 72.7%) (P = 0.02). No difference in cecal intubation time, polyp detection rate...
SBC is superior to CAC in cecal intubation in patients with previous incomplete conventional colonoscopy....
Whether colonoscopy surveillance is useful depends on the impact of colonoscopy surveillance on colorectal cancer incidence and colorectal cancer related mortality. After the introduction of colorecta...
The indications, diagnostic yield, complications, and cecal and ileal intubation rates (CIR and IIR) for colonoscopies in children aged <6 years, denoted preschoolers, is unclear since there is limite...
Retrospective review of all colonoscopies in a tertiary pediatric hospital between December 1, 2014 to December 31, 2020 was undertaken. Demographic factors, indication for colonoscopy, extent of colo...
One thousand six hundred seventy-one total colonoscopies were performed, of which 13% (n = 219) were in preschoolers with median age 3.9 (range 0.3-5.9) years. Most common indications in preschoolers ...
Rectal bleeding was the most common indication and juvenile polyps the most common finding at colonoscopy in preschoolers. A high IIR is achievable in young children but rates are increasingly lower t...
Splenic rupture following colonoscopy (SRFC) is a rare complication and can have associated mortality if left undiagnosed. Most of the cases reported have been managed operatively. Here, we present a ...
Quality of care in colonoscopy is closely related to colonoscopy participants and the nursing workforce in endoscopy-related settings. However, limited data are available on the evaluations and recomm...
With a descriptive qualitative study, semi-structured interviews were conducted between November 2021 and January 2022 with colonoscopy participants (P = 11) and nursing workforce (N = 7) in the endos...
Nine major themes emerged according to the structure, process, and outcome care quality model: workforce structure, quality requirements, unit facilities, nursing tools, nursing quality control system...
The indicator of quality of colonoscopy care should be used to assess and improve current practices to ensure a more direct and sustained impact of colonoscopy care. This study highlights the importan...
Colonoscopy for colorectal cancer screening is endoscopist dependent, and colonoscopy quality improvement programs aim to improve efficacy. This study evaluated the clinical benefit and safety of usin...
This randomized study prospectively evaluated the use of a CADe device at 5 academic and community centers by US board-certified gastroenterologists (n = 22). Participants aged ≥40 scheduled for scree...
Between January and September 2021, 1440 participants were enrolled to be randomized. After exclusion of participants who did not meet the eligibility criteria, 677 in the standard arm and 682 in the ...
For experienced endoscopists performing screening and surveillance colonoscopies in the United States, the CADe device statistically improved overall adenoma detection (APC) without a concomitant incr...
gov registration: NCT04754347....