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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"name": "Les symptômes peuvent-ils évoluer avec le temps ?",
"position": 10,
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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,
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"text": "Oui, l'analyse de l'exome peut guider le choix des traitements personnalisés."
}
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"name": "Peut-on guérir les maladies liées à l'exome ?",
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"position": 21,
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"name": "Les complications sont-elles prévisibles ?",
"position": 22,
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"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",
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}
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"@type": "Question",
"name": "Y a-t-il des risques de complications à long terme ?",
"position": 24,
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"@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."
}
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{
"@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": {
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"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" :
To determine the effect of zonular forces on lens capsule topography, a finite element (FE) analyses of lens capsules with no lens stroma and constant and variable thickness with anterior capsulotomie...
Fragility of trabecular bone (Tb) microstructure is increased in osteoporosis, which is associated with rapid bone loss and enhanced fracture-risk. Accurate assessment of Tb strength using...
The mechanism of scaphoid waist fracture is not completely understood. We used finite element analysis to study the formation of scaphoid waist fractures. Clinical computed tomography scans of 12 wris...
Finite-element analysis is a computational modeling technique that can be used to quantify parameters that are difficult or impossible to measure externally in a geometrically complex structure such a...
Herein Finite elements analysis (FEA) study assesses the adequacy and accuracy of five failure criteria (Von Mises (VM), Tresca, maximum principal (S1), minimum principal (S3), and Hydrostatic pressur...
The aim of this study was to investigate the biomechanical stress of sandwich vertebrae (SVs) and common adjacent vertebrae in different degrees of spinal mobility in daily life....
A finite element model of the spinal segment of T10-L2 was developed and validated. Simultaneously, T11 and L1 fractures were simulated, and a 6-ml bone cement was constructed in their center. Under t...
The maximum von Mises stress of T10 in the M-T10 group was 30.68 MPa, 36.13 MPa, 34.27 MPa, 33.43 MPa, 26.86 MPa, and 27.70 MPa greater than the maximum stress value of T10 in the other groups in six ...
We found that SVs did not always experience the highest stress. The most stressed vertebrae vary with the degree of curvature of the spine. Patients should be encouraged to avoid the same spinal curva...
Postballoon expansion is considered as an appropriate procedure for adequate stent expansion for coronary bifurcation lesions. Two postballoon expansion procedures are currently recommended: proximal ...
It is recognized that biomechanical factors influence the occurrence of Major Cardiovascular Adverse Events (MACE), which includes recurrent angina pectoris, acute myocardial infarction and coronary h...
Based on the CT angiography (CTA) data of a patient diagnosed with coronary bifurcation lesions, a personalized coronary bifurcation lesion model was constructed, and the surgical procedure after two ...
Both postexpansion procedures were successfully simulated. The malapposition rate during POT/side/POT was larger (1.2% vs. 0.42%) and stent occlusion at the SB opening from the cross-section perpendic...
Numerical simulations provide a quantitative analysis to inform clinicians of the differences between preoperative planning and surgical procedures. Biomechanical analysis of the differences between t...
Joint replacement is one of the options to retrieve the interosseous distal radioulnar joint (DRUJ) function. DRUJ prosthesis has recently been introduced clinically to treat DRUJ instability. This ar...
CT images of a healthy 33 years old man were used to construct the three-dimensional geometry of the forearm bone. Then two models, a healthy foreman (Model A) and a damaged model with an inserted int...
Maximum and minimum principal stresses were evaluated for bones in all conditions, and von Mises stress was considered for the prosthesis and fixing screws. In supination, the maximum stress in Model ...
Our study indicates that the interosseous DRUJ prosthesis can perform the foreman's normal daily activities. This prosthesis provides the ability similar to a normal hand....
IV....
Percutaneous cement discoplasty (PCD) is a minimally invasive treatment for degenerative lumbar spine disease, but the relationship between decompression effect on the nerve root and different doses o...
To investigate the indirect decompression effect of cement with different doses on nerve roots and the biomechanical changes on the spine during PCD using finite element analysis (FEA)....
FEA was adapted to analyze the mechanical changes in the lumbar vertebrae before and after the application of PCD.CT scan images of adult males were utilized to establish a finite element model of the...
The stress of the nerve root in model H was the largest. The nerve root stress in the model H2 was the smallest during flexion, extension, left bending, right bending, left rotation, and right rotatio...
The nerve root stress increased after degeneration and decreased after intervertebral height recovery through cement injection, resulting in a significant indirect decompression effect.The stress of t...
Bi-unicompartmental knee arthroplasty is a less invasive treatment than a total one, great advantage for the patient but more difficult for the surgeon because of the lower visibility during surgery; ...
The geometries of the bones were acquired and uncemented fixed bearing metal-back UKAs virtually implanted in a finite elements environment. The lateral component was implanted in six different antero...
Outcomes for 0° and - 3° configurations are acceptable, but the - 2° of slope configuration achieved the best ones in terms of stress on proximal tibia, load repartition, contact pressure distribution...
Slight errors can happen during the surgery: performing the cut aiming to slightly posterior slopes during the surgery helps to minimize the chances of obtaining positive slopes that could lead to an ...