questionsmedicales.fr
Maladies métaboliques et nutritionnelles
Maladies métaboliques
Erreurs innées du métabolisme
Erreurs innées du métabolisme des métaux
Maladie de Menkès
Maladie de Menkès : Questions médicales fréquentes
Termes MeSH sélectionnés :
Natural Language Processing
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"description": "Comment diagnostique-t-on la maladie de Menkès ?\nQuels tests génétiques sont utilisés ?\nLes analyses de cheveux sont-elles utiles ?\nQuels signes cliniques indiquent cette maladie ?\nÀ quel âge se manifeste la maladie ?",
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"name": "Les analyses de cheveux sont-elles utiles ?",
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"name": "Quels signes cliniques indiquent cette maladie ?",
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"name": "Les cheveux sont-ils affectés ?",
"position": 9,
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"text": "Oui, ils sont souvent frisés, cassants et de couleur pâle, d'où le nom de la maladie."
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"position": 11,
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"name": "Le dépistage prénatal est-il possible ?",
"position": 12,
"acceptedAnswer": {
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"text": "Oui, le dépistage prénatal peut identifier des mutations génétiques chez le fœtus."
}
},
{
"@type": "Question",
"name": "Les parents porteurs peuvent-ils être testés ?",
"position": 13,
"acceptedAnswer": {
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"text": "Oui, les tests génétiques peuvent déterminer si les parents sont porteurs de la mutation."
}
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{
"@type": "Question",
"name": "Des conseils génétiques sont-ils disponibles ?",
"position": 14,
"acceptedAnswer": {
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"text": "Oui, des conseils génétiques peuvent aider les familles à comprendre les risques."
}
},
{
"@type": "Question",
"name": "Les vaccinations sont-elles recommandées ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les vaccinations sont recommandées pour prévenir d'autres infections."
}
},
{
"@type": "Question",
"name": "Quel est le traitement principal ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement consiste en des suppléments de cuivre pour compenser le déficit."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils efficaces ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements peuvent améliorer certains symptômes, mais ne guérissent pas la maladie."
}
},
{
"@type": "Question",
"name": "Y a-t-il des thérapies complémentaires ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des thérapies physiques et occupationnelles peuvent aider au développement moteur."
}
},
{
"@type": "Question",
"name": "Les soins palliatifs sont-ils nécessaires ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des soins palliatifs peuvent être requis pour gérer les symptômes avancés."
}
},
{
"@type": "Question",
"name": "Les transfusions sanguines sont-elles utiles ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, les transfusions ne sont pas un traitement pour la maladie de Menkès."
}
},
{
"@type": "Question",
"name": "Quelles sont les complications possibles ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des troubles neurologiques graves et des problèmes de croissance."
}
},
{
"@type": "Question",
"name": "La maladie affecte-t-elle la vie quotidienne ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les patients peuvent avoir besoin d'assistance pour les activités quotidiennes."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de mortalité ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la maladie de Menkès peut réduire l'espérance de vie en raison de complications."
}
},
{
"@type": "Question",
"name": "Les troubles comportementaux sont-ils fréquents ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles du comportement peuvent survenir en raison de l'atteinte neurologique."
}
},
{
"@type": "Question",
"name": "Des problèmes cardiaques peuvent-ils se développer ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des anomalies cardiaques peuvent être associées à la maladie de Menkès."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque connus ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs de risque incluent des antécédents familiaux de la maladie et des mutations génétiques."
}
},
{
"@type": "Question",
"name": "La maladie est-elle plus fréquente chez certains sexes ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la maladie de Menkès affecte principalement les garçons en raison de son mode de transmission."
}
},
{
"@type": "Question",
"name": "Les parents porteurs sont-ils à risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les parents porteurs de mutations dans le gène ATP7A peuvent transmettre la maladie."
}
},
{
"@type": "Question",
"name": "Y a-t-il des facteurs environnementaux ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, aucun facteur environnemental n'est clairement associé à la maladie."
}
},
{
"@type": "Question",
"name": "Les consanguinités augmentent-elles le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les unions consanguines peuvent augmenter le risque de transmission de la maladie."
}
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We simulated FTD-like narratives using Generative-Pretrained-Transformer-2 by either increasing word selection stochasticity or limiting the model's memory span. We then examined the sensitivity of co...
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This work validates a simulation-based approach as a valuable tool for hypothesis generation and mechanistic analysis of NLP markers in psychiatry. To facilitate dissemination of this approach, we acc...
Total joint arthroplasty is becoming one of the most common surgeries within the United States, creating an abundance of analyzable data to improve patient experience and outcomes. Unfortunately, a la...
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Unprofessional faculty behaviors negatively impact the well-being of trainees yet are infrequently reported through established reporting systems. Manual review of narrative faculty evaluations provid...