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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"position": 4,
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"@type": "Question",
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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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"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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"@type": "Question",
"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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"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": {
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"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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"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,
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"@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,
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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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"@type": "Question",
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"name": "Y a-t-il des complications psychologiques ?",
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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,
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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": {
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"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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"@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."
}
},
{
"@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."
}
}
]
}
]
}
High inter-laboratory reproducibility is required for conducting collaborative experiments among several laboratories. The primary aim of our evaluation of the physical stability of amorphous drugs, c...
Technical advancements over the past two decades have enabled the measurement of the panoply of molecules of cells and tissues including transcriptomes, epigenomes, metabolomes and proteomes at unprec...
There is growing awareness that the ways in which academic research is conducted could be improved. A number of exciting innovations are emerging, alongside a broader agenda that includes a growing em...
Recent years have marked a renaissance in efforts to increase research reproducibility in psychology, neuroscience, and related fields. Reproducibility is the cornerstone of a solid foundation of fund...
Worries about a "credibility crisis" besieging science have ignited interest in research transparency and reproducibility as ways of restoring trust in published research. For quantitative social scie...
To evaluate anatomical and volumetric predictability of a cone beam computed tomography (CBCT)-based virtual parenchymal perfusion (VPP) software for the single-photon-emission computed tomography (SP...
VPP was evaluated retrospectively on CBCT data of patients treated by TARE for HCC....
Fifty-two CBCTs were performed in 33 included patients. Semi-quantitative evaluation showed a good concordance between actual...
CBCT-based VPP software is accurate and reliable to predict...
• Virtual parenchymal perfusion (VPP) software is accurate and reliable in the prediction of...
To investigate interexaminer reproducibility of non-cycloplegic subjective refractions. Subjective refractions are frequently determined, and it is important to know whether differences in refractive ...
Fifty registered and experienced (≥5 years) optometrists from a single geographic region performed non-cycloplegic subjective refractions for a participant with moderate left eye(OS) to severe right e...
Mean subjective refractions were -7.68-4.50×10 and -4.59-1.85×178 for the right and left eyes, respectively. The 95% absolute reproducibility limits for the stigmatic coefficients (spherical equivalen...
Removal of possible outliers for OD and OS, respectively, reduces the absolute 95% reproducibility limits for the stigmatic and astigmatic coefficients to ≤0.97 D and ≤0.49 D, thus improving interexam...
It is increasingly widely recognized that ensemble-based approaches are required to achieve reliability, accuracy, and precision in molecular dynamics calculations. The purpose of the present article ...
A complete declarative description of the computational environment is usually missing when researchers share their materials. Without such description, software obsolescence and missing system compon...
The field of health services research studies the health care system by examining outcomes relevant to patients and clinicians but also health economists and policy makers. Such outcomes often include...