questionsmedicales.fr
Phénomènes génétiques
Variation génétique
Mutation
Aberrations des chromosomes
Mosaïcisme
Mosaïcisme : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Mosaïcisme
Analyse génétique
Cytogénétique
Séquençage de l'ADN
Amniocentèse
Biopsie de villosités choriales
Anomalies congénitales
Troubles du développement
Génétique
Mutation somatique
Symptômes
5
Symptômes
Malformations congénitales
Retard de développement
Troubles cognitifs
Anomalies cutanées
Pigmentation
Malformations cardiaques
Mosaïcisme
Variabilité phénotypique
Distribution cellulaire
Prévention
5
Prévention
Mutation somatique
Conseils génétiques
Risques
Tests génétiques
Mosaïcisme
Éducation prénatale
Options
Habitudes de vie
Génétique
Traitements
5
Traitement
Intervention chirurgicale
Suivi médical
Complications
Thérapie ciblée
Symptômes
Qualité de vie
Soins palliatifs
Complications
5
Complications
Malformations
Complications neurologiques
Cellules affectées
Gestion des complications
Suivi régulier
Facteurs de risque
5
Facteurs de risque
Anomalies chromosomiques
Âge parental
Mutations génétiques
Facteurs environnementaux
Mutations somatiques
Antécédents familiaux
Maladies génétiques
Infections virales
Mutations
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"@type": "Question",
"name": "Comment diagnostiquer le mosaïcisme ?",
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"text": "Le diagnostic se fait par analyse génétique et biopsies tissulaires."
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"@type": "Question",
"name": "Quels tests sont utilisés pour le mosaïcisme ?",
"position": 2,
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"@type": "Question",
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"@type": "Question",
"name": "Quels sont les symptômes du mosaïcisme ?",
"position": 6,
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"@type": "Question",
"name": "Le mosaïcisme peut-il affecter le développement intellectuel ?",
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"@type": "Question",
"name": "Y a-t-il des symptômes cutanés associés ?",
"position": 8,
"acceptedAnswer": {
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"text": "Oui, des anomalies cutanées comme des taches pigmentées peuvent apparaître."
}
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{
"@type": "Question",
"name": "Le mosaïcisme peut-il causer des problèmes cardiaques ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines formes de mosaïcisme peuvent être associées à des malformations cardiaques."
}
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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 dépend des cellules affectées et de leur distribution."
}
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{
"@type": "Question",
"name": "Peut-on prévenir le mosaïcisme ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le mosaïcisme ne peut pas être prévenu car il résulte de mutations somatiques."
}
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{
"@type": "Question",
"name": "Y a-t-il des conseils pour les parents ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les parents peuvent bénéficier de conseils génétiques pour comprendre les risques."
}
},
{
"@type": "Question",
"name": "Les tests génétiques peuvent-ils aider ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests génétiques peuvent identifier des risques de mosaïcisme chez les enfants."
}
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{
"@type": "Question",
"name": "L'éducation prénatale est-elle utile ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'éducation prénatale aide à comprendre les risques et les options disponibles."
}
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{
"@type": "Question",
"name": "Les habitudes de vie influencent-elles le mosaïcisme ?",
"position": 15,
"acceptedAnswer": {
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"text": "Non, le mosaïcisme est généralement indépendant des habitudes de vie des parents."
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"@type": "Question",
"name": "Quel traitement est disponible pour le mosaïcisme ?",
"position": 16,
"acceptedAnswer": {
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"text": "Le traitement dépend des symptômes et peut inclure des interventions chirurgicales."
}
},
{
"@type": "Question",
"name": "Le mosaïcisme nécessite-t-il un suivi médical ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un suivi régulier est essentiel pour gérer les complications potentielles."
}
},
{
"@type": "Question",
"name": "Des thérapies spécifiques existent-elles ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des thérapies ciblées peuvent être envisagées selon les symptômes et les tissus affectés."
}
},
{
"@type": "Question",
"name": "Le traitement est-il curatif ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il n'existe pas de traitement curatif, mais des soins peuvent améliorer la qualité de vie."
}
},
{
"@type": "Question",
"name": "Les médicaments sont-ils utilisés pour le mosaïcisme ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des médicaments peuvent être prescrits pour traiter des symptômes spécifiques."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des malformations, des troubles de la croissance et des cancers."
}
},
{
"@type": "Question",
"name": "Le mosaïcisme augmente-t-il le risque de cancer ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains types de mosaïcisme peuvent être associés à un risque accru de cancer."
}
},
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"@type": "Question",
"name": "Des complications neurologiques sont-elles possibles ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des complications neurologiques peuvent survenir selon les cellules affectées."
}
},
{
"@type": "Question",
"name": "Le mosaïcisme peut-il affecter la fertilité ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines formes de mosaïcisme peuvent avoir un impact sur la fertilité."
}
},
{
"@type": "Question",
"name": "Comment gérer les complications ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "La gestion des complications nécessite une approche multidisciplinaire et un suivi régulier."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque du mosaïcisme ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des anomalies chromosomiques et des mutations génétiques."
}
},
{
"@type": "Question",
"name": "L'âge parental influence-t-il le mosaïcisme ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'âge avancé des parents peut augmenter le risque de mutations génétiques."
}
},
{
"@type": "Question",
"name": "Des facteurs environnementaux jouent-ils un rôle ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines expositions environnementales peuvent contribuer à des mutations somatiques."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux sont-ils un facteur ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux de maladies génétiques peuvent augmenter le risque."
}
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{
"@type": "Question",
"name": "Le mosaïcisme est-il lié à des infections ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines infections virales peuvent être associées à des mutations, mais ce n'est pas direct."
}
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 03/04/2025
Contenu vérifié selon les dernières recommandations médicales
2 publications dans cette catégorie
Affiliations :
Department of Dermatology, Yale School of Medicine, New Haven, Connecticut, USA; Department of Pathology, Yale School of Medicine, New Haven, Connecticut, USA; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA. Electronic address: keith.choate@yale.edu.
Publications dans "Mosaïcisme" :
2 publications dans cette catégorie
Affiliations :
From the Department of Neurosurgery (H.W.P.), Stanford School of Medicine, Palo Alto, CA; Department of Neurosurgery (H.W.P., J.R.M., J.P., S.S.S.), Boston Children's Hospital, Harvard Medical School; Broad Institute of MIT and Harvard (H.W.P., Y.W., Y.C., E.A.L., A.Y.H., C.A.W.), Cambridge; Division of Genetics and Genomics (H.W.P., Y.W., E.A.L., A.Y.H., C.A.W.), Manton Center for Orphan Disease Research; Division of Newborn Medicine (A.M.D.G., B.A.), Department of Pediatrics; Epilepsy Genetics Program (A.M.D.G., J.B.B., A.P.), Department of Neurology; Department of Pediatrics (A.M.D.G., J.B.B., E.A.L., A.Y.H., C.A.W.), Harvard Medical School, Boston Children's Hospital; Program in Biological and Biomedical Sciences (Y.W.); Department of Neurology (M.C., J.B.B., A.P., C.A.W.), Boston Children's Hospital, Harvard Medical School; Translational Neuroscience Center (A.C.S.), Boston Children's Hospital; Department of Radiology (S.P.P.), Division of Neuroradiology; Department of Pathology (H.G.L.), Division of Neuropathology, Boston Children's Hospital, Harvard Medical School; and Howard Hughes Medical Institute (C.A.W.), Boston, MA.
Publications dans "Mosaïcisme" :
2 publications dans cette catégorie
Affiliations :
ICAR-Central Institute of Temperate Horticulture, Srinagar 191132, Jammu & Kashmir, India.
Publications dans "Mosaïcisme" :
2 publications dans cette catégorie
Affiliations :
ICAR-Central Institute of Temperate Horticulture, Srinagar 191132, Jammu & Kashmir, India.
Publications dans "Mosaïcisme" :
2 publications dans cette catégorie
Affiliations :
ICAR-Central Institute of Temperate Horticulture, Srinagar 191132, Jammu & Kashmir, India.
Publications dans "Mosaïcisme" :
2 publications dans cette catégorie
Affiliations :
Epilepsy Research Centre, Department of Medicine (Austin Hospital), University of Melbourne, Heidelberg, Victoria, Australia 3084.
Publications dans "Mosaïcisme" :
2 publications dans cette catégorie
Affiliations :
Epilepsy Research Centre, Department of Medicine (Austin Hospital), University of Melbourne, Heidelberg, Victoria, Australia 3084.
Murdoch Children's Research Institute, Parkville, Victoria, Australia 3052.
Publications dans "Mosaïcisme" :
2 publications dans cette catégorie
Affiliations :
IST Austria (Institute of Science and Technology Austria), Am Campus 1, 3400 Klosterneuburg, Austria.
Publications dans "Mosaïcisme" :
2 publications dans cette catégorie
Affiliations :
IST Austria (Institute of Science and Technology Austria), Am Campus 1, 3400 Klosterneuburg, Austria.
Publications dans "Mosaïcisme" :
2 publications dans cette catégorie
Affiliations :
Deparment of Applied Genomics, Kazusa DNA Research Institute, Kisarazu, Japan.
Publications dans "Mosaïcisme" :
1 publication dans cette catégorie
Affiliations :
Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
Publications dans "Mosaïcisme" :
1 publication dans cette catégorie
Affiliations :
Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
Publications dans "Mosaïcisme" :
1 publication dans cette catégorie
Affiliations :
Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine and National Clinical Research Center for Child Health, Hangzhou, China.
Publications dans "Mosaïcisme" :
1 publication dans cette catégorie
Affiliations :
Institute of Genetics and Department of Human Genetics, Zhejiang University School of Medicine, Hangzhou, China.
Publications dans "Mosaïcisme" :
1 publication dans cette catégorie
Affiliations :
Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine and National Clinical Research Center for Child Health, Hangzhou, China.
Publications dans "Mosaïcisme" :
1 publication dans cette catégorie
Affiliations :
Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine and National Clinical Research Center for Child Health, Hangzhou, China.
Publications dans "Mosaïcisme" :
1 publication dans cette catégorie
Affiliations :
Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine and National Clinical Research Center for Child Health, Hangzhou, China.
Publications dans "Mosaïcisme" :
1 publication dans cette catégorie
Affiliations :
Institute of Genetics and Department of Human Genetics, Zhejiang University School of Medicine, Hangzhou, China.
Publications dans "Mosaïcisme" :
1 publication dans cette catégorie
Affiliations :
Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine and National Clinical Research Center for Child Health, Hangzhou, China.
Publications dans "Mosaïcisme" :
1 publication dans cette catégorie
Affiliations :
Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine and National Clinical Research Center for Child Health, Hangzhou, China.
Publications dans "Mosaïcisme" :
To solve spatial tasks, the human brain asks for support from the visual cortices. Nonetheless, representing spatial information is not fixed but depends on the reference frames in which the spatial i...
Multisensory spatial processes are fundamental for efficient interaction with the world. They include not only the integration of spatial cues across sensory modalities, but also the adjustment or rec...
Spatial reference frames (RFs) play a key role in spatial cognition, especially in perception, spatial memory, and navigation. There are two main types of RFs: egocentric (self-centered) and allocentr...
The closest surrogate to hunter-gather activity is the sport of orienteering, which naturally and simultaneously combines high-intensity interval exercise with navigation. Although human cognition can...
This article aimed to assess the relationship between musical training and age-related changes in binaural, temporal, and spatial processing abilities....
A standard group comparison study was conducted involving both musicians and nonmusicians. The effect of musical training was assessed using a battery of psychoacoustical tests (interaural time and le...
A total of 60 participants, between 41 and 70 years, were divided into three groups of 20 each, based on their age (41-50, 51-60, and 61-70 years). Each of these three groups was subdivided into two, ...
Multivariate analyses of variance revealed that musicians performed significantly better (...
Musical training appears to have the potential to slow down age-related decline in binaural, temporal, and spatial processing....
Humans have associations between numbers and physical space on both horizontal and vertical dimensions, called Spatial-Numerical Associations (SNAs). Several studies have considered the hypothesis of ...
The primary aim of the research was to document spatial acuity changes across the life span using a battery of psychoacoustical and perceptual tests. The secondary aim was to identify the optimal metr...
A cross-sectional study comprising 115 participants with clinically normal hearing was conducted. Purposive sampling was adopted to recruit participants in the study, who were divided into six groups ...
Temporal, intensity, spectral, and composite correlates of spatial acuity were assessed using psychoacoustic measures and perceptual questionnaires. The temporal (interaural time difference [ITD]) and...
Results across all tests (multivariate analyses variance: 6 age groups × 4 tests, followed by post hoc tests) consistently demonstrate poor ITD and ILD thresholds and overall lower spatial accuracy (V...
This study provides evidence of gradual change in all three correlates of spatial processing, with statistically demonstrable deficits appearing from fourth decade of life on VASI and fifth decade of ...
Type 2 diabetes is a robust predictor of cognitive impairment. Impairment in allocentric processing may help identify those at increased risk for Alzheimer's disease dementia. The objective of this st...
Cognitive decline is a frequent and debilitating non-motor symptom for patients with Parkinson's disease (PD). Metabolic alterations in the occipital cortex during visual processing may serve as a bio...
Sixteen patients with PD (Unified Parkinson's Disease Rating Scale Part 3, OFF, 38.69 ± 17.25) and 10 age- and sex-matched healthy controls (HC) underwent 7-T functional magnetic resonance spectroscop...
No differences in static MRS between patients with PD and HC were detected, but a dynamic glutamate response was observed in functional MRS in HC upon visual stimulation, which was blunted in patients...
Our results indicate that functional MRS captures even subtle differences in neural processing linked to the behavioral performance, which would have been missed by conventional, static MRS. Functiona...
Vision and touch both support spatial information processing. These sensory systems also exhibit highly specific interactions in spatial perception, which may reflect multisensory representations that...