questionsmedicales.fr
Maladies de la peau et du tissu conjonctif
Maladies de la peau
Maladies génétiques de la peau
Dysplasie ectodermique
Dysplasie ectodermique : Questions médicales fréquentes
Termes MeSH sélectionnés :
Reproducibility of Results
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"text": "Le diagnostic repose sur l'examen clinique et des tests génétiques pour identifier les mutations."
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{
"@type": "Question",
"name": "Quels examens sont nécessaires pour le diagnostic ?",
"position": 2,
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"@type": "Question",
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"position": 3,
"acceptedAnswer": {
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"@type": "Question",
"name": "Les antécédents familiaux sont-ils importants ?",
"position": 4,
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"@type": "Question",
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"name": "Quels sont les symptômes courants de la dysplasie ectodermique ?",
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"text": "Les symptômes incluent des anomalies dentaires, des cheveux clairsemés et une sudation réduite."
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"name": "La dysplasie ectodermique affecte-t-elle la dentition ?",
"position": 7,
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"text": "Oui, elle peut entraîner des dents manquantes, malformées ou en nombre réduit."
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"@type": "Question",
"name": "Y a-t-il des problèmes de peau associés ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des anomalies cutanées comme une peau sèche ou des éruptions peuvent survenir."
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"name": "Les personnes atteintes ont-elles des problèmes de chaleur ?",
"position": 9,
"acceptedAnswer": {
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"text": "Oui, la réduction de la sudation peut entraîner des difficultés à réguler la température corporelle."
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"@type": "Question",
"name": "Les symptômes varient-ils d'une personne à l'autre ?",
"position": 10,
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"@type": "Question",
"name": "Peut-on prévenir la dysplasie ectodermique ?",
"position": 11,
"acceptedAnswer": {
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"text": "Étant une maladie génétique, il n'existe pas de méthode de prévention connue."
}
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"@type": "Question",
"name": "Le conseil génétique est-il recommandé ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le conseil génétique peut aider les familles à comprendre les risques de transmission."
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"@type": "Question",
"name": "Les tests génétiques peuvent-ils aider à la prévention ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests peuvent identifier les porteurs de mutations et informer les décisions familiales."
}
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"name": "Les femmes enceintes doivent-elles être informées ?",
"position": 14,
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"name": "Y a-t-il des mesures préventives pour les enfants ?",
"position": 15,
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"position": 17,
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"text": "Oui, des interventions chirurgicales peuvent être nécessaires pour corriger des anomalies dentaires."
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"@type": "Question",
"name": "Y a-t-il des traitements pour améliorer la sudation ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des traitements comme l'hydratation et des vêtements adaptés peuvent aider à gérer la chaleur."
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"@type": "Question",
"name": "Les traitements sont-ils personnalisés ?",
"position": 19,
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"text": "Oui, les traitements sont souvent adaptés aux besoins spécifiques de chaque patient."
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"@type": "Question",
"name": "Les traitements peuvent-ils améliorer la qualité de vie ?",
"position": 20,
"acceptedAnswer": {
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"text": "Oui, un traitement approprié peut significativement améliorer la qualité de vie des patients."
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"@type": "Question",
"name": "Quelles complications peuvent survenir avec la dysplasie ectodermique ?",
"position": 21,
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"text": "Les complications incluent des infections cutanées, des problèmes dentaires et des troubles thermiques."
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"@type": "Question",
"name": "Les infections sont-elles fréquentes ?",
"position": 22,
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"name": "Y a-t-il des complications psychologiques ?",
"position": 23,
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"text": "Oui, les problèmes d'apparence peuvent entraîner des troubles de l'estime de soi et de l'anxiété."
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"@type": "Question",
"name": "Les problèmes dentaires peuvent-ils causer des douleurs ?",
"position": 24,
"acceptedAnswer": {
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"text": "Oui, les anomalies dentaires peuvent entraîner des douleurs et des difficultés à mastiquer."
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"name": "Les troubles thermiques peuvent-ils être graves ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles thermiques peuvent entraîner des coups de chaleur dans des conditions extrêmes."
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"@type": "Question",
"name": "Quels sont les facteurs de risque de la dysplasie ectodermique ?",
"position": 26,
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"text": "Les facteurs de risque incluent des antécédents familiaux et des mutations génétiques spécifiques."
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"@type": "Question",
"name": "La consanguinité augmente-t-elle le risque ?",
"position": 27,
"acceptedAnswer": {
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"text": "Oui, la consanguinité peut augmenter la probabilité de transmission de mutations génétiques."
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"@type": "Question",
"name": "Les hommes sont-ils plus touchés que les femmes ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines formes de dysplasie ectodermique sont plus fréquentes chez les hommes."
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{
"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, la dysplasie ectodermique est principalement causée par des facteurs génétiques."
}
},
{
"@type": "Question",
"name": "Les mutations génétiques sont-elles héréditaires ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la plupart des cas de dysplasie ectodermique sont héréditaires et suivent un mode de transmission spécifique."
}
}
]
}
]
}
Individualised predictive models of cognitive decline require disease-monitoring markers that are repeatable. For wide-spread adoption, such markers also need to be reproducible at different locations...
Six participants were scanned at three different sites with a 3T MRI scanner. The protocol employed: T1-weighted (T1w) imaging, resting state functional MRI (rsfMRI), arterial spin labelling (ASL), di...
Reproducibility (coefficient of variation; CoV, across sites) was best for T1w derived grey matter, white matter and hippocampal volume (CoV < 1.5%), compared to rsfMRI and SWI derived metrics (CoV, 1...
Reproducibility and repeatability were assessed for a suite of markers calculated from a dementia MRI protocol. In general, structural markers were less variable than functional MRI markers. Variabili...
High-throughput methods such as RNA-seq, ChIP-seq, and ATAC-seq have well-established guidelines, commercial kits, and analysis pipelines that enable consistency and wider adoption for understanding g...
Results of the recent Critical Assessment of Protein Structure (CASP) competitions demonstrate that protein backbones can be predicted with very high accuracy. In particular, the artificial intelligen...
In recent years, a plethora of new synthetic biology tools for use in cyanobacteria have been published; however, their reported characterizations often cannot be reproduced, greatly limiting the comp...
The "replication crisis" is a methodological problem in which many scientific research findings have been difficult or impossible to replicate. Because the reproducibility of empirical results is an e...
Systematic reviews are indispensable tools for both reliably informing decision-makers about the state of the field and for identifying areas that need further study. Their value, however, depends on ...
Edelson classification is a 3D classification of proximal humeral fractures, but there is a scarcity of application of this classification in large samples, and the accuracy of classification was also...
A total of 827 proximal humeral fractures (304 male and 520 female patients, 58.0 ± 16.2 years) were found retrospectively from January 2014 to December 2019, and classified according to the tradition...
The mean k value for the interobserver reliability was 0.748 (range, 0.583 to 0.958) compared with Edelson classification (0.548, range, 0.48 to 0.635), indicating satisfactory agreement. The mean k v...
The revised Edelson classification proposed was more in line with the injury mechanism of the fracture, was beneficial in identifying more fracture types such as bicipital groove fracture, and verifie...
The digital articulation of dental models is gradually replacing the conventional physical approach for occlusal prediction planning. This study was performed to compare the accuracy and reproducibili...
The interpretation of footwear evidence relies on the expertise of forensic footwear examiners. Here we report on the largest study to date of the accuracy, reproducibility (inter-examiner variation),...
Tractography enables identifying and evaluating the healthy and diseased brain's white matter pathways from diffusion-weighted magnetic resonance imaging data. As previous evaluation studies have repo...