questionsmedicales.fr
Phénomènes génétiques
Variation génétique
Mutation
Aberrations des chromosomes
Mosaïcisme
Mosaïcisme : Questions médicales fréquentes
Termes MeSH sélectionnés :
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"@type": "Question",
"name": "Comment diagnostiquer le mosaïcisme ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le diagnostic se fait par analyse génétique et biopsies tissulaires."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour le mosaïcisme ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les tests incluent le séquençage de l'ADN et l'analyse cytogénétique."
}
},
{
"@type": "Question",
"name": "Le mosaïcisme peut-il être détecté prénatalement ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, par amniocentèse ou biopsie de villosités choriales."
}
},
{
"@type": "Question",
"name": "Quels signes cliniques peuvent indiquer un mosaïcisme ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des anomalies physiques ou des troubles de développement peuvent être des indicateurs."
}
},
{
"@type": "Question",
"name": "Le mosaïcisme est-il héréditaire ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, il résulte généralement d'une mutation somatique et n'est pas héréditaire."
}
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{
"@type": "Question",
"name": "Quels sont les symptômes du mosaïcisme ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes varient selon les tissus affectés, incluant des malformations ou des troubles."
}
},
{
"@type": "Question",
"name": "Le mosaïcisme peut-il affecter le développement intellectuel ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, il peut entraîner des retards de développement ou des troubles cognitifs."
}
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{
"@type": "Question",
"name": "Y a-t-il des symptômes cutanés associés ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des anomalies cutanées comme des taches pigmentées peuvent apparaître."
}
},
{
"@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."
}
},
{
"@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."
}
},
{
"@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."
}
},
{
"@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."
}
},
{
"@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."
}
},
{
"@type": "Question",
"name": "Les habitudes de vie influencent-elles le mosaïcisme ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, le mosaïcisme est généralement indépendant des habitudes de vie des parents."
}
},
{
"@type": "Question",
"name": "Quel traitement est disponible pour le mosaïcisme ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"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."
}
},
{
"@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."
}
},
{
"@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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}
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A cardiopulmonary exercise test (CPET) is a test assessing an individual's physiological response during exercise. Results may be affected by body composition, which is best evaluated through imaging ...
Skeletal muscle is a dynamic organ requiring tight regulation of energy metabolism in order to provide bursts of energy for effective function. Several inborn errors of muscle energy metabolism (IEMEM...
The aim of the study is to validate a customized V˙O 2max Graded Exercise Test (GXT) protocol specifically to accommodate firefighters with different cardiovascular fitness levels....
Career male firefighters (N = 15) completed 3 customized GXTs on a treadmill: 1 in athletic clothes and 2 in their bunker gear to determine maximal oxygen uptake (V˙O 2max )....
The on-duty task protocol was reliable, V˙O 2max values of 40.2 ± 4.6 mL·kg·min -1 and 40.3 ± 5.3 mL·kg·min -1 between trials yielded an interclass correlation of 0.911 with a typical error of 1.48 mL...
The customized GXT for structural firefighters has shown to be a reliable, valid, and applicable method of testing cardiovascular fitness in firefighters....
Routine or vigorous training, particularly in competitive and elite athletes practicing dynamic sports, leads to a constellation of structural and functional cardiovascular adaptations, facilitating a...
Assess safety and feasibility of the cardiopulmonary exercise test (CPET) for evaluating head and neck cancer (HaNC) survivors. Also compare their cardiorespiratory fitness to age and sex-matched norm...
Fifty HaNC survivors [29 male; mean (SD) age, 62 (8) years], who had completed treatment up to 1 year previously, were recruited. Participants performed a CPET on a cycle ergometer to symptom-limited ...
Three participants did not complete the CPET because (1) poor fitting mouthpiece and naso-oral mask due to facial disfiguration from surgery; (2) knee pain elicited by cycling; and (3) early CPET term...
These preliminary data suggest the CPET appears safe and feasible for most HaNC survivors when strict exclusion criteria are applied; however, low levels of cardiorespiratory fitness should be conside...
Collegiate rowing performance is often assessed by a cardiopulmonary exercise test (CPET). Rowers' on-water performance involves non-linear dynamic interactions and synergetic reconfigurations of the ...
Long COVID refers to persistent symptoms, lasting more than 4 weeks after acute SARS-CoV-2 infection, even though the infection itself has been successfully controlled and remedied. Patient complaints...
Cardiopulmonary exercise test (CPET) has been recognized as a useful tool in investigation of unexplained dyspnea. In patients with chronic lung disease, pulmonary rehabilitation is a program designed...
Publications on CPET and pulmonary rehabilitation are needed in order to deepen comprehension and enhance management of long-COVID-19....
CPET reports have shown that symptoms persisting in the aftermath of acute SARS-CoV-2 infection may be related to deconditioning, a common occurrence after ICU stay, to cardiac dysautonomia subsequent...
Blood pressure (BP) measurement plays a critical role in cardiac stress testing and is most commonly assessed manually. The emphasis of social distancing during the COVID-19 pandemic has renewed the i...
The aim of this study is to evaluate the prognostic value of cardiopulmonary testing (CPET) in a cohort of patients with transthyretin cardiac amyloidosis (ATTR-CA). ATTR-CA is associated with a progr...
Cardiopulmonary exercise testing (CPET) has an important prognostic value in adults with different congenital heart defects (CHDs) and is a useful tool for risk stratification and clinical decision-ma...
411 CPET performed by paediatric patients with different CHDs were evaluated in this retrospective study. Medical records were reviewed to determine the presence of cardiac events. Participants were c...
411 patients with a median age at test of 12 years, 51 patients with simple CHD, 170 patients with moderate complexity CHD and 190 with high complexity CHD underwent CPET. Overall, CPET parameters wer...
Reduced exercise capacity at young age is related to a higher probability of future cardiovascular events in paediatric patients with CHD. Submaximal exercise variables can be used instead when maxima...