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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 :
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"name": "Diagnostic",
"headline": "Diagnostic sur Maladie de Menkès",
"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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"description": "Quels sont les symptômes principaux ?\nLes problèmes neurologiques sont-ils fréquents ?\nY a-t-il des problèmes de croissance ?\nLes cheveux sont-ils affectés ?\nDes problèmes dentaires sont-ils associés ?",
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"headline": "Traitements sur Maladie de Menkès",
"description": "Quel est le traitement principal ?\nLes traitements sont-ils efficaces ?\nY a-t-il des thérapies complémentaires ?\nLes soins palliatifs sont-ils nécessaires ?\nLes transfusions sanguines sont-elles utiles ?",
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"headline": "Complications sur Maladie de Menkès",
"description": "Quelles sont les complications possibles ?\nLa maladie affecte-t-elle la vie quotidienne ?\nY a-t-il un risque accru de mortalité ?\nLes troubles comportementaux sont-ils fréquents ?\nDes problèmes cardiaques peuvent-ils se développer ?",
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"name": "Facteurs de risque",
"headline": "Facteurs de risque sur Maladie de Menkès",
"description": "Quels sont les facteurs de risque connus ?\nLa maladie est-elle plus fréquente chez certains sexes ?\nLes parents porteurs sont-ils à risque ?\nY a-t-il des facteurs environnementaux ?\nLes consanguinités augmentent-elles le risque ?",
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"@type": "Question",
"name": "Comment diagnostique-t-on la maladie de Menkès ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le diagnostic repose sur l'examen clinique, l'analyse des cheveux et des tests génétiques."
}
},
{
"@type": "Question",
"name": "Quels tests génétiques sont utilisés ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests de séquençage de l'ADN peuvent identifier des mutations dans le gène ATP7A."
}
},
{
"@type": "Question",
"name": "Les analyses de cheveux sont-elles utiles ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elles montrent des anomalies typiques, comme des cheveux frisés et cassants."
}
},
{
"@type": "Question",
"name": "Quels signes cliniques indiquent cette maladie ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des retards de développement, des troubles neurologiques et des cheveux anormaux sont des indicateurs."
}
},
{
"@type": "Question",
"name": "À quel âge se manifeste la maladie ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes apparaissent généralement dans les premiers mois de la vie."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes principaux ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent des cheveux frisés, des retards de développement et des convulsions."
}
},
{
"@type": "Question",
"name": "Les problèmes neurologiques sont-ils fréquents ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles neurologiques comme l'hypotonie et des crises convulsives sont courants."
}
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{
"@type": "Question",
"name": "Y a-t-il des problèmes de croissance ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les enfants peuvent présenter un retard de croissance et un développement physique anormal."
}
},
{
"@type": "Question",
"name": "Les cheveux sont-ils affectés ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils sont souvent frisés, cassants et de couleur pâle, d'où le nom de la maladie."
}
},
{
"@type": "Question",
"name": "Des problèmes dentaires sont-ils associés ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des anomalies dentaires peuvent également survenir chez les patients atteints."
}
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{
"@type": "Question",
"name": "Peut-on prévenir la maladie de Menkès ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La maladie étant génétique, il n'existe pas de prévention, mais un dépistage peut aider."
}
},
{
"@type": "Question",
"name": "Le dépistage prénatal est-il possible ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"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": {
"@type": "Answer",
"text": "Oui, les tests génétiques peuvent déterminer si les parents sont porteurs de la mutation."
}
},
{
"@type": "Question",
"name": "Des conseils génétiques sont-ils disponibles ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"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."
}
}
]
}
]
}
Background The Vesical Imaging Reporting and Data System (VI-RADS) based on multiparametric MRI scans standardizes preoperative bladder cancer staging. However, limitations have been reported for VI-R...
The aim of this study was to validate the performance of the Ovarian-Adnexal Reporting and Data Systems (O-RADS) series models proposed by the American College of Radiology (ACR) in the preoperative d...
This study is aimed at evaluating the diagnostic efficacy and unnecessary fine-needle aspiration (FNA) rate of ultrasound-based risk stratification for thyroid nodules in the American College of Radio...
Children and adolescents with pathology confirmed thyroid nodules were retrospectively included in this study. A total of 217 thyroid nodules from multicenter of Union Medical College Hospital, China ...
Among all thyroid nodules, 139 nodules were malignant, and 78 nodules were benign. Choosing ATA high suspicion and ACR TI-RADS TR5 as benign and malignant cut-off points, the area under the curve and ...
This study indicated that both ATA and ACR TI-RADS risk stratification systems could provide a feasible differential diagnosis of benign and malignant thyroid nodules, while the ACR risk stratificatio...
The mechanism of reaction in isobutane/2-butene alkylation systems is extremely complicated, accompanied by numerous side reactions. Therefore, a comprehensive understanding of the reaction pathways i...
Current risk stratification systems for thyroid nodules suffer from low specificity and high biopsy rates. Recently, machine learning (ML) is introduced to assist thyroid nodule diagnosis but lacks in...
The Ovarian-Adnexal Reporting and Data System (O-RADS) ultrasound (US) and MRI risk stratification systems were developed by an international group of experts in adnexal imaging to aid radiologists in...
Ultrasound-based risk stratification systems (Thyroid Imaging Reporting and Data Systems (TIRADSs)) of thyroid nodules (TNs) have been implemented in clinical practice worldwide based on their high pe...
A search was conducted on PubMed and Embase until June 2023. Original studies that sequentially assessed TNs using TIRADSs, regardless of FNAC indication, were selected. General study characteristics ...
Seven studies, reporting a total of 41,332 TNs, were included in the analysis. The prevalence of ACR-TIRADS 1-2 was significantly higher than that of EU-TIRADS 2 and K-TIRADS 2, with no significant di...
ACR-, EU-, and K-TIRADS assess TNs similarly across their categories, with slight differences in low-risk classifications. Despite this, focusing on cancer risk estimation, the three TIRADSs assess TN...
As the incidence of hepatocellular carcinoma (HCC) and subsequent treatments with liver-directed therapies rise, the complexity of assessing lesion response has also increased. The Liver Imaging Repor...
To conduct a nonsystematic review of the existing literature to investigate the role of Magnetic Resonance Imaging (MRI) in urothelial carcinomas (UCs)....
Imaging is becoming progressively more crucial in local and distant staging of UCs, especially in cases of bladder cancer (BCa). The primary objective of imaging in patients with BCa is to detect lesi...
The applicability of MRI in the management of UCs has been investigated, particularly focusing on the new evidence on multiparametric MRI (mpMRI) of the bladder and Vesical Imaging-Reporting And Data ...
NEXT collaboration detectors are based on energy measured by an array of photomultipliers (PMT) and topological event filtering based on an array of silicon photomultipliers (SiPMs). The readout of th...