Titre : Erreurs innées du métabolisme lipidique

Erreurs innées du métabolisme lipidique : Questions médicales fréquentes

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"@type": "Answer", "text": "Des tests de dépistage néonatal, des dosages enzymatiques et des analyses d'urine sont courants." } }, { "@type": "Question", "name": "Les symptômes aident-ils au diagnostic ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les symptômes cliniques orientent le diagnostic et peuvent indiquer le type d'erreur." } }, { "@type": "Question", "name": "Quelle est l'importance de l'histoire familiale ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "L'histoire familiale aide à identifier les risques génétiques et à orienter les tests." } }, { "@type": "Question", "name": "Peut-on utiliser l'imagerie pour le diagnostic ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "L'imagerie peut aider à évaluer les organes affectés, mais n'est pas spécifique." } }, { "@type": "Question", "name": "Quels sont les symptômes courants ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent fatigue, douleurs abdominales, troubles neurologiques et retard de croissance." } }, { "@type": "Question", "name": "Les symptômes varient-ils selon le type d'erreur ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, chaque type d'erreur lipidique présente des symptômes spécifiques et variés." } }, { "@type": "Question", "name": "Y a-t-il des signes cutanés associés ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Certaines erreurs peuvent provoquer des dépôts lipidiques visibles sur la peau." } }, { "@type": "Question", "name": "Les symptômes apparaissent-ils à la naissance ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Certains symptômes peuvent apparaître dès la naissance, d'autres se développent plus tard." } }, { "@type": "Question", "name": "Les troubles mentaux sont-ils possibles ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles cognitifs et comportementaux peuvent survenir dans certaines erreurs." } }, { "@type": "Question", "name": "Peut-on prévenir ces erreurs ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "La prévention est limitée, mais le dépistage néonatal peut aider à identifier les cas précoces." } }, { "@type": "Question", "name": "Le conseil génétique est-il utile ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le conseil génétique aide les familles à comprendre les risques et les options de dépistage." } }, { "@type": "Question", "name": "Les vaccinations sont-elles importantes ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Les vaccinations ne préviennent pas les erreurs métaboliques, mais protègent contre d'autres maladies." } }, { "@type": "Question", "name": "Les tests prénataux sont-ils recommandés ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Des tests prénataux peuvent être proposés pour détecter certaines erreurs génétiques." } }, { "@type": "Question", "name": "L'éducation des parents est-elle cruciale ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, informer les parents sur les signes et symptômes peut aider à une détection précoce." } }, { "@type": "Question", "name": "Quels traitements sont disponibles ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements incluent des régimes alimentaires spécifiques, des suppléments et des médicaments." } }, { "@type": "Question", "name": "La diététique joue-t-elle un rôle ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un régime adapté est crucial pour gérer les niveaux de lipides et prévenir les complications." } }, { "@type": "Question", "name": "Des médicaments sont-ils utilisés ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Des médicaments peuvent être prescrits pour réduire les niveaux de lipides ou traiter les symptômes." } }, { "@type": "Question", "name": "La thérapie génique est-elle une option ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "La thérapie génique est en recherche pour certaines erreurs, mais n'est pas encore courante." } }, { "@type": "Question", "name": "Les greffes d'organes sont-elles nécessaires ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Dans certains cas graves, des greffes peuvent être envisagées pour traiter des dommages organiques." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des maladies hépatiques, des troubles neurologiques et des problèmes cardiaques." } }, { "@type": "Question", "name": "Les erreurs lipidique peuvent-elles être mortelles ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Certaines erreurs peuvent entraîner des complications graves pouvant être fatales sans traitement." } }, { "@type": "Question", "name": "Y a-t-il des risques de cancer ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Certaines erreurs peuvent augmenter le risque de développer certains types de cancer." } }, { "@type": "Question", "name": "Les troubles psychologiques sont-ils fréquents ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles psychologiques peuvent survenir en raison de l'impact des symptômes." } }, { "@type": "Question", "name": "Les complications sont-elles réversibles ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes sans traitement." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque génétiques ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les antécédents familiaux d'erreurs métaboliques augmentent le risque de transmission." } }, { "@type": "Question", "name": "L'origine ethnique influence-t-elle le risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines erreurs sont plus fréquentes dans des populations spécifiques en raison de la génétique." } }, { "@type": "Question", "name": "L'alimentation joue-t-elle un rôle ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Une alimentation déséquilibrée peut exacerber les symptômes chez les individus prédisposés." } }, { "@type": "Question", "name": "Les infections peuvent-elles aggraver la condition ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Certaines infections peuvent déclencher ou aggraver les symptômes des erreurs métaboliques." } }, { "@type": "Question", "name": "Le sexe influence-t-il le risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Certaines erreurs métaboliques peuvent avoir une prévalence différente selon le sexe." } } ] } ] }

Sous-catégories

18 au total
└─

Syndrome de Barth

Barth Syndrome D056889 - C18.452.648.398.224
└─

Hyperlipidémie familiale mixte

Hyperlipidemia, Familial Combined D006950 - C18.452.648.398.450
└─

Hyperlipoprotéinémie de type I

Hyperlipoproteinemia Type I D008072 - C18.452.648.398.465
└─

Hyperlipoprotéinémie de type II

Hyperlipoproteinemia Type II D006938 - C18.452.648.398.481
└─

Hyperlipoprotéinémie de type III

Hyperlipoproteinemia Type III D006952 - C18.452.648.398.483
└─

Hyperlipoprotéinémie de type IV

Hyperlipoproteinemia Type IV D006953 - C18.452.648.398.487
└─

Hyperlipoprotéinémie de type V

Hyperlipoproteinemia Type V D006954 - C18.452.648.398.493
└─

Hypolipoprotéinémies

Hypolipoproteinemias D007009 - C18.452.648.398.500
└─

Lipidoses

Lipidoses D008064 - C18.452.648.398.641
└─

Xanthomatose cérébrotendineuse

Xanthomatosis, Cerebrotendinous D019294 - C18.452.648.398.925
└─└─

Hypercholestérolémie familiale homozygote

Homozygous Familial Hypercholesterolemia D000090542 - C18.452.648.398.481.500
└─└─

Hypoalphalipoprotéinémies

Hypoalphalipoproteinemias D052456 - C18.452.648.398.500.330
└─└─

Hypobêtalipoprotéinémies

Hypobetalipoproteinemias D006995 - C18.452.648.398.500.440
└─└─

Céroïdes-lipofuscinoses neuronales

Neuronal Ceroid-Lipofuscinoses D009472 - C18.452.648.398.641.509
└─└─

Syndrome de Sjögren-Larsson

Sjogren-Larsson Syndrome D016111 - C18.452.648.398.641.723
└─└─└─

Déficit en lécithine-cholestérol-acyl-transférase

Lecithin Cholesterol Acyltransferase Deficiency D007863 - C18.452.648.398.500.330.500
└─└─└─

Maladie de Tangier

Tangier Disease D013631 - C18.452.648.398.500.330.750
└─└─└─

Abêtalipoprotéinémie

Abetalipoproteinemia D000012 - C18.452.648.398.500.440.500

Sources (10000 au total)

Language intervention in bilingual children with developmental language disorder: A systematic review.

Although there is a growing body of literature on cognitive and language processing in bilingual children with developmental language disorder (DLD), there is a major gap in the evidence for language ... To examine evidence for language intervention and cross-language transfer effects in bilingual children with DLD. Specifically, the study aimed to review intervention evidence targeting non-linguistic... We carried out searches in five electronic databases: CINAHL, Scopus, Psychinfo, Proquest and Sciencedirect. Data from selected papers were extracted and organized into the three following categories:... We included 14 papers in the review. The majority indicated evidence for vocabulary intervention. There was limited evidence for intervention targeting phonology or morphosyntax. Cross-language genera... The present review indicates that there is a significant gap in the literature regarding language intervention for several key language areas such as morphosyntax, narrative skills and literacy. There... What is already known on the subject Previous studies have examined the effects of bi- and monolingual intervention in bilingual children with DLD. Although the results indicated superior effects for ...

The effectiveness of language nursing intervention on mental health in children with poor language skills.

Mental health issues in adulthood often start in childhood, so it's important to identify these issues early and find ways to manage them. To our knowledge, no study was found that evaluated the long-... We estimated poor language skills prevalence in 3-4-year-old children who were planning to enter kindergartens in Hunan, China. After selecting these children, we divided them into two experimental an... The language skills of the experimental group increased significantly compared to before the protocol (from 87.4±10.87 to 98.08±7.13; p = 0.001). At the end of the eight-month nursing intervention, th... The current study showed the effectiveness of this intervention on both language skills and mental health of children with poor language skills....

Semantic Difficulty for Bilingual Children: Effects of Age, Language Exposure, and Language Ability.

Semantic tasks evaluate dimensions of children's lexical-semantic knowledge. However, the relative ease of semantic task completion depends on individual differences in developmental and language expe... Participants included 232 Spanish-English bilingual children in second through fifth grade with (... Results showed that language ability and grade level drive semantic task difficulty for all task types, and children with DLD experienced greater difficulty on all task types compared to their typical... This study clarifies developmental profiles of lexical-semantic performance in bilingual children with and without DLD and supports clinical decision-making regarding children's English language learn...