questionsmedicales.fr
Phénomènes génétiques
Variation génétique
Mutation
Aberrations des chromosomes
Mosaïcisme
Mosaïcisme : Questions médicales fréquentes
Termes MeSH sélectionnés :
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"description": "Comment diagnostiquer le mosaïcisme ?\nQuels tests sont utilisés pour le mosaïcisme ?\nLe mosaïcisme peut-il être détecté prénatalement ?\nQuels signes cliniques peuvent indiquer un mosaïcisme ?\nLe mosaïcisme est-il héréditaire ?",
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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."
}
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{
"@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."
}
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{
"@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."
}
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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."
}
},
{
"@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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Myeloproliferative neoplasms (MPNs) are clonal stem cell disorders commonly diagnosed in the seventh decade of life. With increasing access to blood surveillance, the number of adolescent and young ad...
Mild to moderate hypertriglyceridemia is a condition often associated with obesity and diabetes, with as yet incomplete knowledge of underlying genetic architecture. The 22q11.2 microdeletion is assoc...
This was a cohort study comparing 6793 population-based adults and 267 with a 22q11.2 microdeletion aged 17-69 years, excluding those with diabetes or on statins....
We used binomial logistic regression modeling to identify predictors of hypertriglyceridemia, accounting for the 22q11.2 microdeletion, male sex, BMI, ethnicity, age, and antipsychotic medications....
The 22q11.2 microdeletion was a significant independent predictor of mild to moderate hypertriglyceridemia (odds ratio (OR): 2.35, 95% CI: 1.70-3.26). All other factors examined were also significant ...
The 22q11.2 microdeletion is associated with hypertriglyceridemia even when accounting for other known risk factors for elevated triglycerides. This effect is seen in young adulthood (76.6% were <40 y...
The purpose of this study was to examine adolescents and young adults preferred methods of communication by health care professionals and to identify whether this aligns/differs from overall preferred...
This study aimed to obtain information about the thoughts of young adults with Down syndrome through interviews of them....
The numbers of participants were 4 and 7 in order to group interviews and individual interviews. They were recruited through the local Association of Parents of Down syndrome. The study incorporated a...
Through analysis, six themes emerged: 1) thoughts about work, 2) existence of friends, 3) how to spend leisure time, 4) meaning of disability, 5) relationships with people, and 6) future dreams....
1) Although young adults with Down syndrome are serious about their work, it is difficult for them to make friends at work. However, they recognized people at work as their comrades and were encourage...
Review the literature concerning adrenal insufficiency (AI) and adrenal crisis (AC) in adolescents and young adults....
Searches of PubMed identifying relevant reports up to March 2022....
AI is rare disorder that requires lifelong glucocorticoid replacement therapy and is associated with substantial morbidity and occasional mortality among adolescents and young adults. Aetiologies in t...
In this review, we examine the current state of knowledge of AC epidemiology in emerging adults; examine the causes of ACs in this age group; and suggest areas for further investigation that are aimed...
Ischemic Stroke in young adults is a real public health problem; it's a major cause of disability, alters quality of life and has a great socio-economic impact....
determine risk factors and specify the etiology of arterial ischemic stroke in young Tunisian adults....
In this 5 years retrospective study (2015-2020), we included all young adults (18-50 years) admitted for arterial ischemic stroke (AIS). Risk factors were registered and analyzed. All patients were in...
We collected 200 patients with AIS. The mean age was 41.37 years ± 6.99. Traditional vascular risk factors were observed in more than 1⁄4 patients. A definite cause of stroke was identified in 120 pat...
Through this study, we demonstrated the diversity of etiology of stroke in young Tunisian adults. Changes of lifestyle are responsible for the occurrence of the traditional risk factors at an early ag...
Radiotherapy for adolescents and young adults is complex in several aspects. The population is very heterogeneous and has characteristics derived from both paediatric and adult populations both in ter...
Spontaneous pneumomediastinum is characterized by the accumulation of air in the mediastinum with no identified cause. It is a rare and self-limiting condition. We report the case of a 32-year-old fem...
Primary hyperparathyroidism (PHPT) affects 2% of Americans over 55 years of age, and is less common in younger patients. Pediatric PHPT patients have higher rates of multigland disease (MGD). We studi...
Retrospective chart review was performed on patients who underwent parathyroidectomy for PHPT (2000-2019). Cohorts were defined by age: Group A (18-40 years) and Group B (> 40 years). Univariate and m...
Of 3889 patients with PHPT, 9.1% (n = 352) were included in Group A. On multivariate analysis, multiple endocrine neoplasia (odds ratio [OR] 6.3, 95% confidence interval [CI] 3.1-12.7), male sex (OR 1...
In our population of patients with sporadic PHPT, a positive family history of PHPT was strongly associated with MGD; additional associations were found with prior parathyroidectomy, non-localizing im...
Developmental dysplasia of the hip (DDH) is one of the most common disorders of hips in children. The deformity can remain asymptomatic into adolescence and adulthood; however, it is considered to be ...