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Phénomènes génétiques
Structures génétiques
Génome
Composants de génome
Gènes
Composants de gène
Sites d'épissage d'ARN
Sites d'épissage d'ARN : Questions médicales fréquentes
Termes MeSH sélectionnés :
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"@type": "Question",
"name": "Comment identifier un site d'épissage ?",
"position": 1,
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"text": "L'identification se fait par analyse bioinformatique et séquençage de l'ARN."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour le diagnostic ?",
"position": 2,
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"text": "Les tests incluent l'électrophorèse et le séquençage de l'ARN."
}
},
{
"@type": "Question",
"name": "Les mutations affectent-elles le diagnostic ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les mutations dans les sites d'épissage peuvent entraîner des erreurs de diagnostic."
}
},
{
"@type": "Question",
"name": "Quels outils bioinformatiques sont utilisés ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des outils comme SpliceAI et MaxEntScan aident à prédire les sites d'épissage."
}
},
{
"@type": "Question",
"name": "Comment les anomalies sont-elles détectées ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les anomalies sont détectées par des analyses de l'ARN et des tests génétiques."
}
},
{
"@type": "Question",
"name": "Quels symptômes sont liés aux défauts d'épissage ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes peuvent inclure des troubles neurologiques et des anomalies congénitales."
}
},
{
"@type": "Question",
"name": "Les symptômes varient-ils selon les mutations ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes dépendent du type de mutation et du gène affecté."
}
},
{
"@type": "Question",
"name": "Y a-t-il des symptômes spécifiques à surveiller ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Surveillez les signes de fatigue, de douleur musculaire et de troubles cognitifs."
}
},
{
"@type": "Question",
"name": "Les symptômes apparaissent-ils tôt ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains symptômes peuvent apparaître dès la naissance, d'autres plus tard."
}
},
{
"@type": "Question",
"name": "Comment les symptômes évoluent-ils ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'évolution des symptômes peut être progressive ou soudaine, selon la condition."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir les défauts d'épissage ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention est difficile, mais le conseil génétique peut aider les familles à risque."
}
},
{
"@type": "Question",
"name": "Le dépistage prénatal est-il utile ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le dépistage prénatal peut identifier certains risques de défauts d'épissage."
}
},
{
"@type": "Question",
"name": "Quels facteurs environnementaux influencent ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des facteurs comme l'exposition à des toxines peuvent influencer les défauts d'épissage."
}
},
{
"@type": "Question",
"name": "L'alimentation joue-t-elle un rôle ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation équilibrée peut réduire certains risques, mais ne prévient pas tous les défauts."
}
},
{
"@type": "Question",
"name": "Le suivi médical est-il important ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un suivi médical régulier peut aider à détecter précocement des anomalies."
}
},
{
"@type": "Question",
"name": "Quels traitements existent pour les défauts d'épissage ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements incluent la thérapie génique et les médicaments ciblés."
}
},
{
"@type": "Question",
"name": "La thérapie génique est-elle efficace ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elle peut être efficace pour corriger certains défauts d'épissage, mais pas tous."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements symptomatiques ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des traitements symptomatiques peuvent aider à gérer les symptômes associés."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils personnalisés ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les traitements peuvent être adaptés en fonction des mutations spécifiques."
}
},
{
"@type": "Question",
"name": "Des essais cliniques sont-ils disponibles ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des essais cliniques évaluent de nouvelles thérapies pour ces conditions."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des troubles neurologiques et des maladies métaboliques."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes."
}
},
{
"@type": "Question",
"name": "Comment les complications affectent-elles la qualité de vie ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elles peuvent gravement affecter la qualité de vie, nécessitant un soutien continu."
}
},
{
"@type": "Question",
"name": "Y a-t-il des complications à long terme ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des complications à long terme peuvent inclure des handicaps physiques ou mentaux."
}
},
{
"@type": "Question",
"name": "Les complications varient-elles selon les individus ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications peuvent varier considérablement d'un individu à l'autre."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque génétiques ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux de maladies génétiques augmentent le risque de défauts d'épissage."
}
},
{
"@type": "Question",
"name": "L'âge parental influence-t-il le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'âge avancé des parents peut augmenter le risque de mutations génétiques."
}
},
{
"@type": "Question",
"name": "Les infections pendant la grossesse sont-elles un risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines infections peuvent affecter le développement embryonnaire et augmenter les risques."
}
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"@type": "Question",
"name": "L'exposition à des produits chimiques est-elle un facteur ?",
"position": 29,
"acceptedAnswer": {
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"text": "Oui, l'exposition à certains produits chimiques peut augmenter le risque de défauts d'épissage."
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{
"@type": "Question",
"name": "Le mode de vie influence-t-il le risque ?",
"position": 30,
"acceptedAnswer": {
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"text": "Un mode de vie sain peut réduire certains risques, mais ne les élimine pas complètement."
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Predominant ordinary ideas are insufficient for solving insight-like problems; they interfere with subordinate original ideas and can produce a mental impasse. However, how people monitor and control ...
This study aims to understand the role of self-regulated learning (SRL) and its different processes in the relationship between working memory (WM) and problem-solving accuracy in math in primary scho...
Previous studies demonstrated that individuals with agenesis of the corpus callosum (AgCC) experience difficulties in novel and complex problem-solving. The present study investigated verbal problem-s...
Capacity for semantic inference was tested in 25 individuals with AgCC and normal-range intelligence compared to 29 neurotypical controls. The Word Context Test (WCT) of Delis-Kaplan Executive Functio...
With respect to the typical WCT scores, persons with AgCC had fewer total consecutive correct responses. In addition, semantic similarity to the correct word was significantly lower overall in persons...
These findings indicated that individuals with AgCC who have intelligence in the normal range are less able at the WCT taking all trials into account, although they often solve the problem eventually....
Problem solving is a core element in mathematical learning. The reversal error in problem solving occurs when students are able to recognize the information in the statement of comparison word problem...
Individuals with pre-manifest and early symptomatic Huntington's disease (HD) have shown deficits in solving arithmetic word-problems. However, the neural correlates of these deficits in HD are poorly...
This study presents the Slime Mold Algorithm (SMA) to solve the time-cost-quality trade-off problem in a construction project. The proposed SMA is a flexible and efficient algorithm in exploration and...
Stroke caregivers face many challenges after a family member experiences stroke. Because caregivers play such a crucial role in health care, there is a need for more interventions in web-based formats...
A one-group, pretest-posttest design with a mixed-methods approach was used. Qualitative data supplemented the quantitative findings. Community-dwelling caregivers of stroke patients were recruited fr...
Ninety-three caregivers were recruited; 72 caregivers completed the intervention and 21 withdrew (77% completion rate). From pre- to posttest, caregiver depression (...
The intervention was feasible to implement and acceptable to caregivers. This intervention shows promise for fulfilling a need for more web-based interventions that focus on skills building and psycho...
Problem-solving is an important skill that is associated with reasoning abilities, action control and academic success. Nevertheless, empirical evidence on cognitive correlates of problem-solving perf...
The ability to translate concrete manipulatives into abstract mathematical formulas can aid in the solving of mathematical word problems among students, and metacognitive prompts play a significant ro...
Based on the concept of semantic congruence, we explored the effects of metacognitive prompts and numerical ordinality on information searching and cognitive processing, throughout the process of solv...
Participants included 73 primary school students (38 boys and 35 girls) with normal or corrected visual acuity....
This study was based on a 2 (prompt information: no-prompt, metacognitive-prompt) × 2 (number attribute: cardinal number, ordinal number) mixed experimental design. We analysed multiple eye-movement i...
When solving both types of problems, pupil sizes were significantly smaller under the metacognitive-prompt condition compared with the no-prompt condition, and shorter dwell time for specific sentence...
The results indicate that for Chinese upper-grade primary school students, cognitive load was lower in the metacognitive prompting condition and when solving cardinal problems, and higher when solving...
This study investigated problem-solving attitudes and state-dependent, performance-based problem-solving abilities of individuals with high trait worry as compared to those low in trait worry. Seconda...
A 2 (group: high worry, n = 68, vs. low worry, n = 66) X 2 (induction type: worry vs. neutral mentation) factorial design was employed to investigate the differential effects of state worry, and neutr...
Previous findings that individuals with high trait worry endorse greater tendencies to self-report unconstructive problem-solving attitudes were replicated. Contrary to predictions, there were no sign...
Study did not directly assess problem-solving for personal problems....
Disparities in self-appraisal may account for lack of worry-related performance differences. Findings suggest that when employing problem-solving interventions with a high worry population, emphasis s...