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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"name": "Comment diagnostiquer la neurofibromatose de type 1 ?",
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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": {
"@type": "Answer",
"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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"@type": "Question",
"name": "Quels sont les symptômes courants de la neurofibromatose ?",
"position": 6,
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"@type": "Question",
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"position": 7,
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},
{
"@type": "Question",
"name": "Y a-t-il des complications oculaires ?",
"position": 8,
"acceptedAnswer": {
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"text": "Des complications comme des tumeurs de la rétine peuvent se produire."
}
},
{
"@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."
}
},
{
"@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": {
"@type": "Answer",
"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."
}
}
]
}
]
}
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" :
Benign prostatic hyperplasia (BPH) is the most common cause of bladder outlet obstruction in men over the age of 50 years. An association between the prostate specific antigen (PSA), International Pro...
To determine the correlation between the PSA, IPSS and PV in men of African descent....
This was a cross sectional analysis involving 92 patients diagnosed as having symptomatic BPH at the Ho Teaching Hospital....
The data were collected using standardised questionnaires. The IPSS determined urinary symptom severity. The PV was determined using a transabdominal ultrasound machine. Serum PSA was retrieved from t...
The mean PV was 61.04 cm3 ± 21.95 cm3, the mean PSA was 4.21 ng/mL ± 3.85 ng/mL, and mean IPSS of 21.59 ± 3.78. The Pearson's correlation between PV and PSA was 0.283 (p = 0.01), between PV and IPSS w...
This study showed that serum PSA has a positive correlation with PV. However, IPSS had no significant association with PSA or PV in patients with BPH.Contribution: This study provides insights into th...
We report the case of a 63-year-old male who came to the urology clinic with an increasing value of the prostate specific antigen and an asymmetrical enlargement at the digital rectal examination. The...
To compare the cost effectiveness of prostatic artery embolization (PAE) with that of transurethral resection of the prostate (TURP) for the treatment of medically refractory benign prostatic hyperpla...
A cost-effectiveness analysis with Markov modeling was performed, comparing the clinical course after PAE with that after TURP for 3 years. Probabilities were obtained from the available literature, a...
Base case calculation showed comparable outcomes (PAE, 2.845 QALY; TURP, 2.854 QALY), with a cost difference of $3,104 (PAE, $2,934; TURP, $6,038). The incremental cost-effectiveness ratio was $360,24...
PAE is a cost-effective strategy to treat medically refractory BPH, resulting in comparable health benefits at a lower cost than that of TURP even when accounting for extreme alterations in adverse ev...
Prostate organogenesis begins during embryonic development and continues through puberty when the prostate becomes an important exocrine gland of the male reproductive system. The specification and gr...
Benign prostatic hyperplasia is associated with structural and morphological changes including elongation of prostatic urethral length. The aim of our study was to assess whether prostatic urethral le...
This prospective observational study was conducted over a 12-months duration. All the patients who presented with lower urinary tract symptoms secondary to benign prostatic hyperplasia were evaluated ...
A total of 153 patients were included in the study. Eighty-three (54.2%) patients underwent surgery during the study period. Prostate volume, intravesical prostatic protrusion, post-void residual volu...
BPH patients with longer PUL may require surgical management. PUL measured by TRUS may be a predicting factor for the need of surgery in BPH Keywords: Benign prostatic hyperplasia; lower urinary tract...
Biomarkers of DNA damage repair deficiency provide opportunities for personalized treatment with immunotherapy. However, there is limited research on the immune microenvironment of adeno-neuroendocrin...
A retrospective medical record review of 66 patients with prostate cancer (PCa) was performed. PCa samples from the 66 patients were analyzed using immunohistochemical staining for the detection of ch...
Twenty patients presented with adeno-NEPC, whereas 46 presented with adeno-PCa. The median age of patients at PCa diagnosis was 67.86 ± 7.05 years (68.65 ± 7.23 years, adeno-NEPC; 67.52 ± 7.02 years, ...
Our study revealed clinicopathological manifestations of adeno-NEPC and some possible predictive factors significantly associated with better outcomes in patients with adeno-NEPC. These findings might...
The purpose of the study was to evaluate the diagnostic significance of two new and a few clinical markers for prostate cancer (PCa) at various prostate volumes (PV)....
The study subjects were divided into two groups. Among them, there were 70 cases in the PV ≤30 ml group (benign prostatic hyperplasia [BPH]: 32 cases, PCa: 38 cases) and 372 cases in the PV > 30 ml gr...
In the PV ≤30 ml group, the diagnostic parameters based on prostate-specific antigen (PSA) had a decreased diagnostic significance for PCa. In the PV > 30 ml group, PSAD (AUC = 0.709), AVR (AVR = Age/...
Choosing appropriate indicators for different PVs could contribute to the early screening and diagnosis of PCa. The difference in the diagnostic value of two new indicators (A-PSAD and AVR), and PSAD ...
Holmium laser enucleation of the prostate (HoLEP) is a size-independent surgical option for treating benign prostatic hyperplasia (BPH) and lower urinary tract symptoms (LUTS) with excellent, durable ...
This study aims to compare the ability of the PHI versus tPSA test to predict the presence of PCa in our population....
A prospective observational study was performed. We included patients with tPSA ≥ 2.5 ng/ml, biopsy naïve or previous negative biopsy, undergoing a blood test, which includes tPSA, fPSA, and p2PSA, an...
140 men were included. Fifty-seven (40.7%) had a positive prostate biopsy result (Group A), and 83 (59.3%) had a negative biopsy result (Group B). The mean age was similar in both groups (mean ± stand...
The PHI test improves PCa detection compared to tPSA in our population....
We compare Prostate Health Index, Prostate Health Index density, and PSA density in predicting clinically significant prostate cancer in MRI-guided prostate biopsy....
This is a multicenter evaluation of prospectively maintained prostate biopsy databases at 10 urology centers. Men with Prostate Health Index and MRI-guided targeted and systematic prostate biopsy perf...
A total of 1,215 men were analyzed. Prostate cancer and clinically significant prostate cancer were diagnosed in 51% (617/1,215) and 35% (422/1,215) of men, respectively. Clinically significant prosta...
Prostate Health Index density outperformed Prostate Health Index or PSA density in clinically significant prostate cancer detection in men with multiparametric MRI performed, and further reduced unnec...