questionsmedicales.fr
Phénomènes génétiques
Structures génétiques
Génome
Exome
Exome : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Séquençage de l'ADN
Génétique médicale
Maladies génétiques
Diagnostic génétique
Mutations génétiques
Analyse génomique
Symptômes
5
Symptômes
Maladies génétiques
Asymptomatique
Mutations génétiques
Prédiction
Analyse génomique
Maladies génétiques
Symptômes
Évolution des symptômes
Maladies génétiques
Prévention
5
Dépistage génétique
Prévention
Conseil génétique
Prévention
Dépistage prénatal
Génétique
Traitements
5
Thérapie génique
Traitements médicaux
Médecine personnalisée
Traitements
Maladies génétiques
Traitements
Médecine personnalisée
Traitements médicaux
Essais cliniques
Thérapie génique
Complications
5
Complications
Maladies génétiques
Prévision
Mutations génétiques
Traitements
Complications
Complications
Maladies génétiques
Qualité de vie
Complications
Facteurs de risque
5
Facteurs de risque
Hérédité
Environnement
Mutations génétiques
Antécédents médicaux
Facteurs de risque
Tests génétiques
Facteurs de risque
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"@type": "Question",
"name": "Les symptômes sont-ils spécifiques à l'exome ?",
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"name": "Les symptômes peuvent-ils évoluer avec le temps ?",
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"position": 13,
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"position": 14,
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"position": 16,
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"text": "Les traitements varient, incluant thérapies géniques, médicaments ciblés ou soins symptomatiques."
}
},
{
"@type": "Question",
"name": "L'exome influence-t-il le choix du traitement ?",
"position": 17,
"acceptedAnswer": {
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"text": "Oui, l'analyse de l'exome peut guider le choix des traitements personnalisés."
}
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{
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"name": "Peut-on guérir les maladies liées à l'exome ?",
"position": 18,
"acceptedAnswer": {
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"name": "Les traitements sont-ils adaptés à chaque patient ?",
"position": 19,
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}
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"name": "Y a-t-il des essais cliniques pour les mutations de l'exome ?",
"position": 20,
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"position": 21,
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"@type": "Question",
"name": "Les complications sont-elles prévisibles ?",
"position": 22,
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"@type": "Answer",
"text": "Certaines complications peuvent être anticipées en fonction des mutations identifiées."
}
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{
"@type": "Question",
"name": "Les complications peuvent-elles être traitées ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées avec des traitements appropriés, d'autres non."
}
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{
"@type": "Question",
"name": "Y a-t-il des risques de complications à long terme ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines mutations peuvent entraîner des complications chroniques ou progressives."
}
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{
"@type": "Question",
"name": "Les complications affectent-elles la qualité de vie ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications peuvent significativement impacter la qualité de vie des patients."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour les mutations de l'exome ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent l'hérédité, l'âge parental avancé et des antécédents familiaux."
}
},
{
"@type": "Question",
"name": "L'environnement influence-t-il les mutations ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines expositions environnementales peuvent augmenter le risque de mutations génétiques."
}
},
{
"@type": "Question",
"name": "Les antécédents médicaux jouent-ils un rôle ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents médicaux familiaux de maladies génétiques augmentent le risque."
}
},
{
"@type": "Question",
"name": "Les tests génétiques peuvent-ils identifier les risques ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests peuvent révéler des prédispositions génétiques à certaines maladies."
}
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{
"@type": "Question",
"name": "Les facteurs de risque sont-ils modifiables ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains facteurs, comme le mode de vie, peuvent être modifiés pour réduire les risques."
}
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 21/02/2025
Contenu vérifié selon les dernières recommandations médicales
3 publications dans cette catégorie
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Department of Oncology, McGill University, Montreal, QC, Canada.
Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, QC, Canada.
Department of Medical Genetics, The Research Institute of the McGill University Health Centre, Montreal, QC, Canada.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
McKusick-Nathans Department of Genetic Medicine, Baylor Hopkins Center for Mendelian Genomics, Baltimore, MD 21205, USA.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
McKusick-Nathans Department of Genetic Medicine, Baylor Hopkins Center for Mendelian Genomics, Baltimore, MD 21205, USA.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
The Genetic Institute of Maccabi Health Services, Rehovot, Israel.
School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Bioinformatics Unit, Cancer Research Center, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands. christian.gilissen@radboudumc.nl.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Eye School of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan 610075, P.R. China.
Department of Ophthalmology, Ineye Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan 610032, P.R. China.
Key Laboratory of Sichuan Province Ophthalmopathy Prevention & Cure and Visual Function Protection, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan 610032, P.R. China.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Eye School of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan 610075, P.R. China.
Department of Ophthalmology, Ineye Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan 610032, P.R. China.
Key Laboratory of Sichuan Province Ophthalmopathy Prevention & Cure and Visual Function Protection, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan 610032, P.R. China.
Department of Ophthalmology, Beijing Anzhen Hospital, Capital Medical University, Beijing 100006, P.R. China.
Publications dans "Exome" :
2 publications dans cette catégorie
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA.
Departments of Molecular and Human Genetics and Medicine, Baylor College of Medicine, Houston, TX 77030, USA.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
Faculty of Science, Department of Biochemistry, King Abdulaziz University, Jeddah, Saudi Arabia.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.
Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, NewYork-Presbyterian, New York, New York.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.
Publications dans "Exome" :
A quadragenarian male presented with gradual protrusion of the left eyeball for 7-8 months' duration. On examination, the best corrected visual acuity in the right eye was 20/20, while in the left eye...
This study investigates the accuracy of either computerized tomography (CT) or magnetic resonance imaging (MRI) for the evaluation of various orbital diseases....
We collected 126 CT scans and 65 MRI scans from 144 subjects and asked two radiologists to interpret the images without clinical information. Images included 14 with a clinical diagnosis of orbital in...
The balanced accuracy (BA) for the two radiologists ranged from 0.87 to 0.90 for cellulitis, 0.81 to 0.86 for inflammation, and 0.82 to 0.85 for neoplasm. Radiologists were excellent at recognizing GP...
CT or MRI scanning contributes to the evaluation of patients with orbital disease, but accuracy does varies based depending on the diagnosis. We could not evaluate issues such as determination of dise...
The Moon is the closest natural satellite to mankind, with valuable resources on it, and is an important base station for mankind to enter deep space. How to establish a reasonable lunar Global Naviga...
Previous studies have attempted to explain age-related changes to the orbit in isolation, often producing conflicting results. The authors used highly accurate imaging software to analyze computed tom...
In this case-control study, patients seen in an ear, nose, and throat clinic were screened for study entry. Male and female participants were divided into two age groups (20 to 30 years and 60 to 75 y...
The final sample included 240 orbits from 120 patients. There were 30 patients in each age group. Among female participants, the bony orbital volume ( p < 0.05), fat volume ( p < 0.01), and central wi...
The female bony orbit expands with age and is associated with a more anterior position of the globe; the male bony orbital volume remains the same and the lateral rim moves posteriorly....
Many countries from South-East Asia reported an epidemic of sino-orbital mucormycosis (SOM), otherwise a rare disease, during the coronavirus disease 2019 pandemic. SOM, a potentially fatal disease, i...
We conducted a prospective comparative interventional study at a tertiary eye care hospital to evaluate treatment outcomes with the use of adjunctive IOAB in cases of SOM with mild to moderate orbital...
Thirty-six patients of SOM with mild to moderate orbital disease were recruited in the study. In the intervention group, 23/26 (885%) eyes had stable orbital disease at the end of treatment (4-6 weeks...
In the current study, an improvement in the globe salvage rates was noted in cases of SOM with mild to moderate orbital disease treated with adjunctive IOAB as compared to controls at a mean follow-up...
Orbital compartment syndrome is a sight-threatening emergency caused by rising pressure inside the orbit. It is usually diagnosed clinically, but imaging might help when clinical findings are inconclu...
This retrospective study included patients from 2 trauma centers. Proptosis, optic nerve length, posterior globe angle, morphology of the extraocular muscles, fracture patterns, active bleeding, and s...
Twenty-nine cases of orbital compartment syndrome were included; most were secondary to traumatic hematoma. Pathologies occurred in the extraconal space in all patients, whereas intraconal abnormaliti...
Orbital compartment syndrome is characterized by proptosis and optic nerve stretching. In some cases, the posterior globe is deformed. Orbital compartment syndrome can be caused by an expanding pathol...
The purposes of this study were to compare the pressure onto the orbital floor and medial orbital wall between 3-dimensional printer skull models with unilateral orbital floor and medial orbital wall ...
The patient presented with left-sided chemosis, exophthalmos, and progressive visual loss. Cerebral angiography ed a left orbital arteriovenous malformation and an associated hematoma, with the point ...
Orbital dysplasia is caused by congenital microphthalmos, anophthalmos, or eye atrophy. Orbital volume growth is known to parallel ocular growth and the absence of an eye results in noticeable hemifac...
Three patients with orbital dysplasia who were 3 to 7 years old treated in our department. Each year, the hyaluronic acid gel was injected into each patient intraconal and extraconal posterior orbit a...
A total of 9 injections were performed on 3 patients ages 7, 5, and 4 years old, respectively. The follow-up periods were 5, 5, and 2 years. The authors observed significant improvements in patient ap...
Orbital hyaluronic acid gel injection and combined with an ocular prosthesis is a safe, convenient, and effective treatment for orbital dysplasia....
Rhabdomyosarcoma is the most common soft-tissue sarcoma in paediatric patients and may arise as a primary orbital neoplasm. Imaging studies show a unilateral solitary orbital lesion. With larger tumou...