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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 :
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"name": "Comment diagnostique-t-on la dysplasie ectodermique ?",
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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 ?",
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"name": "La biopsie est-elle utile pour le diagnostic ?",
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"name": "Les antécédents familiaux sont-ils importants ?",
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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 ?",
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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": {
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"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,
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"text": "Oui, la réduction de la sudation peut entraîner des difficultés à réguler la température corporelle."
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"name": "Les symptômes varient-ils d'une personne à l'autre ?",
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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,
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"text": "Oui, le conseil génétique peut aider les familles à comprendre les risques de transmission."
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"name": "Les tests génétiques peuvent-ils aider à la prévention ?",
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"text": "Oui, les tests peuvent identifier les porteurs de mutations et informer les décisions familiales."
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"position": 18,
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"@type": "Question",
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"name": "Les troubles thermiques peuvent-ils être graves ?",
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"name": "La consanguinité augmente-t-elle le risque ?",
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"text": "Oui, certaines formes de dysplasie ectodermique sont plus fréquentes chez les hommes."
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"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."
}
}
]
}
]
}
The current study examined relationships between psychopathology and individual domains of executive functioning (EF) amongst adults. While previous studies have examined these relationships using dia...
This study analyzed the data of 722 individuals between the ages of 18-59 years, who took part in the Nathan Kline Institute (NKI)-Rockland project. Confirmatory factor analyses were used to derive a ...
Results demonstrated an adequate fit for both model structures and indicated that internalizing and externalizing psychopathology had positive and negative relationships with different factors of EF, ...
This study examines pathological traits within a non-clinical sample that excluded individuals with severe mental illness. Additionally, analyses were limited by the availability of certain variables,...
Patterns of associations with EF were unique to all three aspects of dimensional psychopathology. When examined together, different dimensions of psychopathology were related to both better and worse ...
The healthy development of cognitive functions, including executive functions, has been shown to depend mainly on the experiences and learning opportunities of people, especially during childhood. Ove...
In this study, we aimed to investigate the influence of executive functions (EF) on motor adaptation. We compared the motor performance of adults with and without EF deficits. Those with EF deficits (...
The clinical diagnosis of Huntington disease (HD) is typically made once motor symptoms and chorea are evident. Recent reports highlight the onset of cognitive and psychiatric symptoms before motor ma...
To assess cognitive symptoms in the developing brain, we administered assessments from the National Institutes of Health Toolbox Cognitive Battery, an age-appropriate cognitive assessment with populat...
We find significant deficits in the composite measure of executive function in GE compared with GNE participants. GE participant performance on working memory was significantly lower compared with GNE...
This work provides strong evidence that impairments in executive function occur as early as the second decade of life, well before anticipated motor onset. Future investigations should delineate wheth...
We outline two accounts by which executive function (EF) supports children's moral reasoning: an emergence and an expression account. The emergence account postulates that EF supports the development ...
A renewed interest in early executive function (i.e., EF or the conscious control of thought and behavior) development has led several research groups to suggest that EF may be emerging and is less co...
Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by prenatal and postnatal growth retardation. The two principal causes of SRS are loss of methylation on chromosome 11p15 (11p...
The ineligible role of the caudate nucleus in sleep has been implicated. Previous literature showed that the caudate volume is associated with longer habitual sleep duration in older adults. However, ...
The functional roles of the precuneus are unclear. Focal precuneus lesions are rare, making it difficult to identify robust brain-behavior relationships. Distinct functional subdivisions of the precun...
Executive functions' (EF) role in adolescents' advanced theory of mind (aToM) was examined. In Study 1, adolescents (N = 189 in 2017, M...