Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes.
ComplicationsGestionRéversibilité
#3
Comment les complications affectent-elles la qualité de vie ?
Les complications peuvent réduire la qualité de vie en limitant les activités quotidiennes.
Qualité de vieComplicationsActivités quotidiennes
#4
Y a-t-il des risques de complications à long terme ?
Oui, des risques de complications à long terme existent, nécessitant un suivi médical.
RisquesComplications à long termeSuivi médical
#5
Les complications peuvent-elles être prévenues ?
Certaines complications peuvent être évitées par un traitement précoce et un suivi régulier.
PréventionTraitement précoceSuivi régulier
Facteurs de risque
5
#1
Quels sont les facteurs de risque pour les troubles des phosphomutases ?
Les antécédents familiaux et certaines mutations génétiques augmentent le risque.
Facteurs de risqueAntécédents familiauxMutations génétiques
#2
L'environnement joue-t-il un rôle dans ces troubles ?
Oui, des facteurs environnementaux peuvent influencer l'expression des gènes liés aux phosphomutases.
EnvironnementExpression des gènesPhosphotransférases
#3
Les habitudes alimentaires influencent-elles le risque ?
Une mauvaise alimentation peut exacerber les symptômes et augmenter le risque de complications.
Habitudes alimentairesRisqueComplications
#4
Y a-t-il des groupes à risque spécifique ?
Les personnes avec des antécédents familiaux de troubles métaboliques sont à risque accru.
Groupes à risqueAntécédents familiauxTroubles métaboliques
#5
Le stress peut-il affecter le risque de troubles ?
Oui, le stress peut aggraver les symptômes et influencer le métabolisme.
StressRisqueMétabolisme
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"name": "Comment diagnostiquer une déficience en phosphomutases ?",
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"@type": "Question",
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"position": 2,
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"@type": "Question",
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"@type": "Question",
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"@type": "Answer",
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"position": 12,
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"text": "Une alimentation équilibrée et riche en nutriments peut aider à prévenir certains symptômes."
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"@type": "Question",
"name": "Les tests de dépistage sont-ils recommandés ?",
"position": 13,
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"@type": "Answer",
"text": "Des tests de dépistage peuvent être recommandés pour les familles à risque."
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"position": 14,
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"@type": "Question",
"name": "Les vaccinations ont-elles un rôle dans la prévention ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les vaccinations ne préviennent pas directement les troubles enzymatiques, mais aident à la santé générale."
}
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{
"@type": "Question",
"name": "Quels traitements sont disponibles pour les troubles liés aux phosphomutases ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement peut inclure des suppléments enzymatiques et des modifications diététiques."
}
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"position": 17,
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"@type": "Answer",
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}
},
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"@type": "Question",
"name": "Les médicaments peuvent-ils aider à gérer les symptômes ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des médicaments peuvent être prescrits pour gérer les symptômes associés."
}
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"@type": "Question",
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"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, plusieurs études cliniques explorent de nouveaux traitements pour ces troubles."
}
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"@type": "Question",
"name": "Comment la nutrition influence-t-elle le traitement ?",
"position": 20,
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}
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"name": "Quelles complications peuvent survenir avec une déficience en phosphomutases ?",
"position": 21,
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"@type": "Answer",
"text": "Des complications incluent des troubles métaboliques graves et des problèmes neurologiques."
}
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"position": 22,
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}
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"position": 23,
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"@type": "Answer",
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}
},
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"@type": "Question",
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"position": 24,
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"@type": "Answer",
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}
},
{
"@type": "Question",
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"position": 25,
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"@type": "Answer",
"text": "Certaines complications peuvent être évitées par un traitement précoce et un suivi régulier."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour les troubles des phosphomutases ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux et certaines mutations génétiques augmentent le risque."
}
},
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"name": "L'environnement joue-t-il un rôle dans ces troubles ?",
"position": 27,
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"@type": "Answer",
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"position": 28,
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"@type": "Answer",
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"position": 29,
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"@type": "Answer",
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"position": 30,
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"@type": "Answer",
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The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University, Wenzhou, China.
Key Laboratory of Medical Genetics of Zhejiang Province, Key Laboratory of Laboratory Medicine, Ministry of Education, China, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, China.
Publications dans "Phosphotransferases phosphomutases" :
The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University, Wenzhou, China.
Key Laboratory of Medical Genetics of Zhejiang Province, Key Laboratory of Laboratory Medicine, Ministry of Education, China, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, China.
Publications dans "Phosphotransferases phosphomutases" :
The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University, Wenzhou, China.
Key Laboratory of Medical Genetics of Zhejiang Province, Key Laboratory of Laboratory Medicine, Ministry of Education, China, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, China.
Publications dans "Phosphotransferases phosphomutases" :
Key Laboratory of Medical Genetics of Zhejiang Province, Key Laboratory of Laboratory Medicine, Ministry of Education, China, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, China.
Publications dans "Phosphotransferases phosphomutases" :
Key Laboratory of Medical Genetics of Zhejiang Province, Key Laboratory of Laboratory Medicine, Ministry of Education, China, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, China.
Publications dans "Phosphotransferases phosphomutases" :
The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University, Wenzhou, China.
Key Laboratory of Medical Genetics of Zhejiang Province, Key Laboratory of Laboratory Medicine, Ministry of Education, China, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, China.
Medical Molecular Biology Laboratory, School of Medicine, Jinhua Polytechnic, Jinhua, China.
Publications dans "Phosphotransferases phosphomutases" :
In the first years of life, infants rapidly acquire a series of new motor skills. They learn to sit independently, to walk with skill, and to engage in a wide variety of interactions with objects. Ove...
A defining property of human language is the creative use of words to express multiple meanings through word meaning extension. Such lexical creativity is manifested at different timescales, ranging f...
We examined 3- to 10-year-old U.S. children's naïve biological beliefs about spoken language, probing developing beliefs about where language is located in the body. Experiment 1 (N = 128) introduced ...
The language environment to which children are exposed has an impact on later language abilities as well as on brain development; however, it is unclear how early such impacts emerge. This study inves...
Language development is a highly interactive activity. However, most research on linguistic environment has focused on the quantity and complexity of linguistic input to children, with current models ...
After reviewing existing work on caregiver engagement of children's utterances, we aim to operationalize such engagement with automated measures of linguistic alignment, thereby providing scalable too...
We measure lexical, syntactic and semantic types of caregiver alignment in a longitudinal corpus involving 32 adult-autistic child and 35 adult-TD child dyads, with children between 2 and 5 years of a...
Caregivers tend to re-use their child's language in a way that is related to the child's individual, primarily linguistic, differences. Caregivers' alignment provides unique information improving our ...
We provide evidence that language development also relies on interactive conversational processes, previously understudied. We share carefully detailed methods, and open-source scripts so as to system...
This study analyzed the distribution of the sentence length and mean of dependency distances (MDD) in Japanese sentences, comparing data from random sources with that obtained from children's composit...
Language is a complex multidimensional cognitive system that is connected to many neurocognitive capacities. The development of language is therefore strongly intertwined with the development of these...
Children with developmental language disorder (DLD) have well-documented verb learning difficulties. In this study, we asked whether the inclusion of retrieval practice during the learning period woul...
Eleven children with DLD (...
Recall testing immediately after the learning period and 1 week later revealed greater recall for novel verbs in the RSR condition than for novel verbs in the RS condition. This was true for both grou...
Retrieval practice provides benefits to verb learning-an important finding given the challenges that verbs present to children with DLD. However, these benefits do not appear to automatically translat...
Our goal in this chapter is to describe young children's experiences with language by examining three domains-people, places, and things-that define and influence their language input. We highlight ho...
Using a structured literature search and meta-regression procedures, this chapter reports a study that sought to determine whether the associations between coordinated attention and language are moder...