Titre : Cortex visuel

Cortex visuel : Questions médicales fréquentes

Termes MeSH sélectionnés :

Channelopathies
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fréquentes ?\nComment les troubles visuels peuvent-ils affecter l'éducation ?", "url": "https://questionsmedicales.fr/mesh/D014793?mesh_terms=Channelopathies&page=2#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Cortex visuel", "description": "Quels facteurs augmentent le risque de lésions cérébrales ?\nComment l'âge influence-t-il les troubles visuels ?\nQuels rôles jouent les antécédents familiaux ?\nComment le diabète affecte-t-il la vision ?\nQuels comportements augmentent le risque de migraines ?", "url": "https://questionsmedicales.fr/mesh/D014793?mesh_terms=Channelopathies&page=2#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer une lésion du cortex visuel ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Un examen neurologique et des imageries cérébrales comme l'IRM sont utilisés." } }, { "@type": "Question", "name": "Quels tests évaluent la fonction visuelle ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests de champ visuel et d'acuité visuelle sont couramment utilisés." } }, { "@type": "Question", "name": "Quels signes indiquent une dysfonction du cortex visuel ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Des troubles de la perception visuelle, comme l'agnosie, peuvent indiquer une dysfonction." } }, { "@type": "Question", "name": "Quel rôle joue l'électroencéphalogramme (EEG) ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "L'EEG peut aider à détecter des anomalies électriques liées à des troubles visuels." } }, { "@type": "Question", "name": "Comment évaluer la vision des couleurs ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Des tests spécifiques comme le test de Ishihara sont utilisés pour évaluer la vision des couleurs." } }, { "@type": "Question", "name": "Quels sont les symptômes d'une lésion du cortex visuel ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent des troubles de la vision, des hallucinations visuelles et des difficultés de reconnaissance." } }, { "@type": "Question", "name": "Comment se manifeste l'agnosie visuelle ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "L'agnosie visuelle se manifeste par l'incapacité de reconnaître des objets malgré une vision intacte." } }, { "@type": "Question", "name": "Qu'est-ce que l'hémianopsie ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "L'hémianopsie est une perte de vision dans une moitié du champ visuel, souvent due à des lésions cérébrales." } }, { "@type": "Question", "name": "Quels troubles peuvent affecter la perception des mouvements ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Des troubles comme la simultagnosie peuvent affecter la perception des mouvements et des objets." } }, { "@type": "Question", "name": "Quels symptômes indiquent une migraine occulaire ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent des troubles visuels temporaires, comme des éclairs lumineux ou des taches." } }, { "@type": "Question", "name": "Comment prévenir les lésions cérébrales ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Éviter les traumatismes crâniens, adopter un mode de vie sain et contrôler les maladies vasculaires." } }, { "@type": "Question", "name": "Quels examens réguliers sont recommandés ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Des examens ophtalmologiques réguliers peuvent aider à détecter précocement des troubles visuels." } }, { "@type": "Question", "name": "Comment réduire le risque de migraines ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Éviter les déclencheurs connus, gérer le stress et maintenir une bonne hydratation peuvent aider." } }, { "@type": "Question", "name": "Quels conseils pour protéger la santé oculaire ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Porter des lunettes de soleil, éviter les écrans excessifs et avoir une alimentation équilibrée." } }, { "@type": "Question", "name": "Comment gérer le stress pour prévenir les troubles visuels ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Des techniques de relaxation comme le yoga et la méditation peuvent aider à réduire le stress." } }, { "@type": "Question", "name": "Quels traitements existent pour les troubles visuels ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements incluent la rééducation visuelle, la thérapie occupationnelle et parfois des médicaments." } }, { "@type": "Question", "name": "Comment traiter l'agnosie visuelle ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "La thérapie cognitive et des exercices de reconnaissance peuvent aider à traiter l'agnosie." } }, { "@type": "Question", "name": "Quels médicaments peuvent aider les migraines visuelles ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Des médicaments comme les triptans et les anti-inflammatoires peuvent soulager les migraines." } }, { "@type": "Question", "name": "Comment la rééducation visuelle fonctionne-t-elle ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "La rééducation visuelle utilise des exercices pour améliorer la perception et la reconnaissance visuelle." } }, { "@type": "Question", "name": "Quels sont les traitements pour l'hémianopsie ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Des stratégies de compensation et des exercices de champ visuel peuvent aider à gérer l'hémianopsie." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir après une lésion du cortex visuel ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Des complications incluent des troubles cognitifs, des problèmes de coordination et des difficultés d'apprentissage." } }, { "@type": "Question", "name": "Comment l'hémianopsie affecte-t-elle la vie quotidienne ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "L'hémianopsie peut compliquer la conduite, la lecture et d'autres activités nécessitant une vision complète." } }, { "@type": "Question", "name": "Quels risques sont associés à l'agnosie visuelle ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "L'agnosie peut entraîner des difficultés dans les interactions sociales et des problèmes d'autonomie." } }, { "@type": "Question", "name": "Quelles sont les conséquences des migraines fréquentes ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Des migraines fréquentes peuvent entraîner des troubles de l'humeur, de l'anxiété et des absences au travail." } }, { "@type": "Question", "name": "Comment les troubles visuels peuvent-ils affecter l'éducation ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Les troubles visuels peuvent nuire à l'apprentissage, nécessitant des adaptations scolaires spécifiques." } }, { "@type": "Question", "name": "Quels facteurs augmentent le risque de lésions cérébrales ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les traumatismes crâniens, les AVC et les maladies neurodégénératives augmentent le risque." } }, { "@type": "Question", "name": "Comment l'âge influence-t-il les troubles visuels ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Le vieillissement peut entraîner une dégénérescence des cellules nerveuses et des troubles visuels." } }, { "@type": "Question", "name": "Quels rôles jouent les antécédents familiaux ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Les antécédents familiaux de troubles neurologiques peuvent augmenter le risque de dysfonction visuelle." } }, { "@type": "Question", "name": "Comment le diabète affecte-t-il la vision ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Le diabète peut entraîner des complications oculaires comme la rétinopathie diabétique, affectant la vision." } }, { "@type": "Question", "name": "Quels comportements augmentent le risque de migraines ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Le stress, le manque de sommeil et une mauvaise alimentation peuvent déclencher des migraines." } } ] } ] }

Sources (96 au total)

Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies.

Rare protein-altering variants in... We deployed minigene assays to assess the splicing consequences of 10 variants. Three variants incompatible with the minigene approach were introduced into control induced pluripotent stem cells by CR... We identified aberrant splicing, with presumed disruption of protein sequence, in 8/10 variants studied using the minigene assay and 1/3 studied in induced pluripotent stem cell-derived cardiomyocytes... Functional assays reclassified splice-altering variants outside canonical splice sites in Brugada Syndrome- and long QT syndrome-associated genes....

Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies.

The congenital Long QT Syndrome (LQTS) and Brugada Syndrome (BrS) are Mendelian autosomal dominant diseases that frequently precipitate fatal cardiac arrhythmias. Incomplete penetrance is a barrier to... We generated Bayesian penetrance models for KCNQ1-LQT1 and SCN5A-LQT3 using variant-specific features and clinical data from the literature, international arrhythmia genetic centers, and population co... Bayesian penetrance estimates of KCNQ1-LQT1 and SCN5A-LQT3 are empirically equivalent to 10 and 5 clinically phenotype heterozygotes, respectively. Posterior penetrance estimates were bimodal for KCNQ... Bayesian penetrance estimates provide a continuous framework for variant interpretation....

Pathogenicity Assignment of Variants in Genes Associated With Cardiac Channelopathies Evolve Toward Diagnostic Uncertainty.

Accurately determining variant pathogenicity is critical in the diagnosis of cardiac channelopathies; however, it remains unknown how variant pathogenicity status changes over time. Our aim is to use ... We identified 10 genes (... In total, among channelopathy-associated genes, there were 9975 variants in ClinVar and 8.4% had a clinically meaningful change in disease association at least once over the past 10 years, as opposed ... Over the past 10 years, 8.4% of variants in channelopathy-associated genes have changed pathogenicity status with a decline in overall diagnostic certainty. Ongoing clinical and genetic variant follow...

A liposomal platform for the delivery of ion channel proteins for treatment of channelopathies - Application in therapy of cystic fibrosis.

Channelopathies arise from ion channel dysfunction. Successful treatment entails delivery of functional ion channels to replace dysfunctional ones. Glycine receptor (GlyR)-rich cell membrane fragments...

BK channels of five different subunit combinations underlie the de novo KCNMA1 G375R channelopathy.

The molecular basis of a severe developmental and neurological disorder associated with a de novo G375R variant of the tetrameric BK channel is unknown. Here, we address this question by recording fro...

1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.

The prevalence and genetic spectrum of cardiac channelopathies exhibit population-specific differences. We aimed to understand the spectrum of cardiac channelopathy-associated variations in India, whi... We utilised the IndiGenomes dataset comprising 1029 whole genomes from self-declared healthy individuals as a template to filter variants in 36 genes known to cause cardiac channelopathies. Our analys... A compendium of ACMG/AMP classified cardiac channelopathy variants in 1029 self-declared healthy Indian population was created. A conservative genotypic prevalence was estimated to be 0.9-1.8% which p...

Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.

The diffusion of next-generation sequencing (NGS)-based approaches allows for the identification of pathogenic mutations of cardiomyopathies and channelopathies in more than 200 different genes. Since...

Disrupted Neural Regeneration in Dry Eye Secondary to Ankylosing Spondylitis-With a Theoretical Link between Piezo2 Channelopathy and Gateway Reflex, WDR Neurons, and Flare-Ups.

This study aimed at analyzing the corneal neural regeneration in ankylosing spondylitis patients using in vivo corneal confocal microscopy in correlation with Langerhans cell density, morphology, and ...