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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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"headline": "Facteurs de risque sur Mosaïcisme",
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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."
}
},
{
"@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."
}
},
{
"@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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Dyslipidemia is a well-established cardiovascular disease (CVD) risk factor, although its association with mortality is less clear. This study aimed to assess the association between established dysli...
Prospective cohort study of 1,479 men aged 59.7±10.7 years was conducted between 1987 and 2012. At baseline, dyslipidemia markers of total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C)...
Mean and standard deviations of TC, LDL-C and HDL-C were 199.5±45.2, 149.4±47.4 and 44.3±12.2 mg/dL, respectively. During 8.9±4.5 years follow-up, 284 participants died. Compared to TC <200 mg/dL, lev...
In reference to established dyslipidemia criteria, this study showed that higher TC and LDL-C were independently and paradoxically associated with lower risk of all-cause mortality and longer survival...
Cardiopulmonary exercise testing (CPET) remains poorly understood and, consequently, largely underused in respiratory medicine. In addition to a widespread lack of knowledge of integrative physiology,...
Despite the numerous recent advancements in therapy, heart failure (HF) remains a principle cause of both morbidity and mortality. HF with preserved ejection fraction (HFpEF), a condition that shares ...
Multiple sclerosis (MS) is a chronic demyelinating inflammatory disorder of the central nervous system that may affect respiratory system at the later stages of the disease. The aim of our study was t...
25 pwMS and 16 healthy controls were included in this study. Pulmonary function tests were performed and were followed by proper cardiopulmonary exercise testing with the use of treadmill. Quality of ...
The mean age of the patient group was 38.4 ± 8.2 years. Spirometric values were within normal limits, and so did lung diffusion capacity, while maximal voluntary ventilation was reduced. In cardiopulm...
Our study showed that the main cardiopulmonary exercise testing parameters were affected in ambulatory pwMS, even without evidence of respiratory symptoms. Therefore, these people should be evaluated ...
Although walking is the most common exercise modality in daily life for most humans, running and cycling are the most applied exercise modalities during maximal oxygen uptake (VO<inf>2max</inf>) testi...
Sixteen participants (25±3 years, 172±9 cm, 69±15 kg, and VO<inf>2max</inf> 50±4 mL/kg/min) performed four incremental running- and walking VO<inf>2max</inf> tests (two tests in each condition) within...
The walking protocol achieved similar reliability values for absolute and relative VO<inf>2max</inf> when compared to the running condition. No significant differences in VO<inf>2max</inf> were observ...
Although the present participants achieved 2-3% lower VO<inf>2max</inf> when the walking test protocol was applied, walking seems to be a promising exercise-modality alternative during VO<inf>2max</in...
the main objective of this study was to evaluate the test-retest reliability of two different functional electromechanical dynamometry (FEMD)-controlled squat training protocols....
twenty-eight healthy young adults volunteered to participate in this study. They attended the laboratory on four different days and performed four sessions: two of three sets of 12 repetitions at 75% ...
reliability was very high for ROM (CV: 3.72%, ICC: 0.95), MDS (CV: 1.09%, ICC: 1.00), PDS (CV: 1.97%, ICC: 1.00), and W (CV: 4.69%, ICC: 1.00) conditions at 50% 1RM and for ROM (CV: 3.90%, ICC: 0.95),...
this study demonstrates that FEMD is a reliable instrument to measure ROM, MDS, PDS, MV, PV, PV, MP, MP, W, and I during both squat protocols (50 and 75% 1RM) in healthy young adults....
Cardiopulmonary exercise testing (CPET), and its primary outcome of peak oxygen uptake (VO...
Twenty-six people with ILD were recruited, and 21 successfully completed three CPETs. Of these, 17 completed two valid CPETs within a 3-month window, and 11 completed two valid CPETs within a 6-month ...
Every participant (100%) who successfully exercised to volitional exhaustion produced a maximal, and therefore valid, CPET. Approximately 20% of participants presented with a plateau in VO...
This work has, for the first time, fully characterised how patients with ILD respond to CPET in terms of primary and secondary verification criteria, and generated novel repeatability data that will p...
BACKGROUND This study aimed to analyze the correlations among peak oxygen uptake (VO2) in cardiopulmonary exercise test (CPX), incremental shuttle walking test (ISWT), and 6-minute walking test (6MWT)...
Exaggerated exercise blood pressure (BP) is linked to cardiovascular disease (CVD). Although evening chronotypes have greater CVD risk than morning (Morn) types, it is unknown if exercise BP differs i...
This study aimed to explore the application of cardiopulmonary exercise testing in coronary artery disease (CAD) patients, evaluate its impact on exercise ability and cardiopulmonary function in patie...
Fifty CHD patients after percutaneous coronary intervention (PCI) were recruited and randomly enrolled into the control (Ctrl) group and intervention (Int) group. Routine health education and health e...
Compared with those in the Ctrl group, the levels of serum total cholesterol (TC), triglycerides (TGs), high-density lipoprotein (HDL), and low-density lipoprotein (LDL) decreased in the Int group, wh...
RT training can reduce postoperative blood lipid and quantitative load levels in CAD patients and improve adverse mood. Furthermore, it can improve patients' cardiopulmonary function, cardiopulmonary ...