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Acides aminés, peptides et protéines
Protéines
Protéines de tissu nerveux
Canaux sodiques voltage-dépendants
Canaux sodiques voltage-dépendants : Questions médicales fréquentes
Termes MeSH sélectionnés :
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"@type": "Question",
"name": "Comment diagnostiquer une dysfonction des canaux sodiques ?",
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"text": "Des tests électrophysiologiques et des études génétiques peuvent être utilisés."
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"@type": "Question",
"name": "Quels examens sont recommandés pour les troubles liés aux canaux sodiques ?",
"position": 2,
"acceptedAnswer": {
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"text": "L'EMG et les tests de conduction nerveuse sont souvent recommandés."
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"@type": "Question",
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"position": 3,
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"text": "Oui, ils peuvent identifier des mutations spécifiques associées à des maladies."
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"name": "Quels symptômes peuvent indiquer un problème avec ces canaux ?",
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"text": "Certaines conditions peuvent affecter la cognition en perturbant la signalisation neuronale."
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"@type": "Question",
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"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils sont souvent adaptés en fonction des symptômes et des antécédents du patient."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec ces troubles ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications incluent des crises fréquentes et des troubles de la mobilité."
}
},
{
"@type": "Question",
"name": "Les troubles cardiaques sont-ils possibles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des anomalies dans les canaux sodiques peuvent affecter le rythme cardiaque."
}
},
{
"@type": "Question",
"name": "Les complications neurologiques sont-elles fréquentes ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elles peuvent inclure des troubles cognitifs et des déficits moteurs."
}
},
{
"@type": "Question",
"name": "Comment les complications affectent-elles la qualité de vie ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elles peuvent réduire l'autonomie et augmenter le besoin de soins médicaux."
}
},
{
"@type": "Question",
"name": "Les complications peuvent-elles être gérées ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un suivi médical régulier et des traitements adaptés peuvent aider."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour les troubles des canaux sodiques ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux, certaines maladies génétiques et des traumatismes peuvent être des facteurs."
}
},
{
"@type": "Question",
"name": "L'âge joue-t-il un rôle dans ces troubles ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains troubles se manifestent plus fréquemment chez les jeunes enfants ou les adultes."
}
},
{
"@type": "Question",
"name": "Les infections peuvent-elles augmenter le risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines infections virales peuvent déclencher des crises chez les individus prédisposés."
}
},
{
"@type": "Question",
"name": "Le stress est-il un facteur de risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le stress peut exacerber les symptômes chez les personnes déjà affectées."
}
},
{
"@type": "Question",
"name": "Les médicaments peuvent-ils influencer le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains médicaments peuvent interférer avec la fonction des canaux sodiques."
}
}
]
}
]
}
Unexplained cardiac arrest (UCA) is a working diagnosis that should be replaced by a final diagnosis once evaluation is completed. Complete evaluation of UCA should include high-yield tests like cardi...
This study aimed to investigate the perspectives of Autistic adults regarding genetic testing for autism. Although previous studies have explored the perceptions of genetic testing for autism among a ...
We distributed a web-based survey via social media to English-speaking Autistic adults. The survey assessed individuals' experiences with, attitudes toward, and interest in genetic testing for autism ...
In total, 461 respondents completed the survey: 27% would have wanted genetic testing during childhood, 74% felt that it should only be offered if the Autistic individual is able to consent, and 49% f...
Autistic adults have concerns about genetic testing for autism. Additional work is required to bridge the divide between the Autistic community and health care providers and families to identify if an...
We have used DNA sequencing in our lipid clinic for >20 years. Dyslipidaemia is typically ascertained biochemically. For moderate deviations in the lipid profile, the etiology is often a combination o...
In this cross-sectional, semi-longitudinal and quasi-experimental study, our goal was to determine the effect of data storage conditions on willingness to take a genetic test. We compared individuals'...
The diagnosis of Alport syndrome is a challenge in the pediatric age, due to the absence of expected clinical phenotypes of the disease, its classic characterization of a rare disease and the very res...
Genetic and genomic technologies are showing great potential in the field of psychiatry. Genetic testing for psychiatric conditions poses a range of ethical challenges, many of which are likely to be ...
Balancing the autonomy of the child and parents requires consideration and judging capacity may be complicated by the presence of psychiatric illness in the child and their family. Health professional...
Although the current evidence base suggests genetic testing may not be appropriate for clinical use in psychiatric populations right now, when it is, appropriate pre-test counselling and informed deci...
Genetic analysis is emerging for interstitial lung diseases (ILDs); however, ILD practices are not yet standardized. We surveyed patients', relatives' and pulmonologists' experiences and needs on gene...
A clinical epidemiologist (MT) together with members of the ERS taskforce and representatives of the European Idiopathic Pulmonary Fibrosis and related disorders Federation (EU-IPFF) patient organisat...
Survey respondents consisted of 458 patients with ILD, 181 patients' relatives and 352 pulmonologists. Most respondents think genetic testing can be useful, particularly for explaining the cause of di...
This survey shows that there is wide support for implementation of genetic testing in ILD and a high need for information, guidelines and access to testing among patients, their relatives and pulmonol...
Successful proband-mediated family communication and subsequent cascade genetic testing uptake requires interventions that present information clearly, in sufficient detail, and with medical authority...
Vascular anomalies include benign or malignant tumors or benign malformations of the arteries, veins, capillaries, or lymphatic vasculature. The genetic etiology of the lesion is essential to define t...
Genetic evaluation of men with advanced prostate cancer is recognized as imperative both to guide treatment decisions and to trigger cascade genetic testing of family members. Here we investigate util...
We queried the Northwestern Electronic Data Warehouse from January 2021 to present for all men diagnosed with National Comprehensive Cancer Network high-risk/very high-risk, regional, or metastatic pr...
Atotal of 320 men (52.5%) had local/regional disease and 290 (47.5%) had metastatic disease, 53 (18.3%) of whom had castrate resistant prostate cancer. Rates of germline genetic testing rate were low ...
Here we report that utilization of genetic testing is associated with metastatic disease and inversely associated with age. Overall, utilization rates of genetic testing remain low in all patient grou...