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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 ?",
"position": 1,
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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": {
"@type": "Answer",
"text": "L'EMG et les tests de conduction nerveuse sont souvent recommandés."
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"@type": "Question",
"name": "Les tests génétiques sont-ils utiles pour les canaux sodiques ?",
"position": 3,
"acceptedAnswer": {
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"text": "Oui, ils peuvent identifier des mutations spécifiques associées à des maladies."
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"@type": "Question",
"name": "Quels symptômes peuvent indiquer un problème avec ces canaux ?",
"position": 4,
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"text": "Les symptômes incluent des convulsions, des faiblesses musculaires et des douleurs."
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"text": "Oui, des dysfonctionnements peuvent entraîner des troubles de la coordination."
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"position": 8,
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"position": 10,
"acceptedAnswer": {
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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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"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."
}
}
]
}
]
}
A substantial proportion of atrial fibrillation (AF) cases cannot be explained by acquired AF risk factors. Limited guidelines exist that support routine genetic testing. We aim to determine the preva...
This retrospective cohort study aimed to assess and compare the outcomes between cumulative live birth of patients with and without PGT-A and also between prior unsuccessful IVF cycles and PGT-A cycle...
A total of 2113 females undergoing IVF with at least one blastocyst were reviewed. Patients in the PGT-A and non-PGT-A groups were further categorized into first-time IVF and prior unsuccessful IVF gr...
In the PGT-A group, there were additional oocyte retrieval cycles, fewer transfer cycles per patient, higher clinical pregnancy rates per embryo transfer, and lower miscarriage rates per clinical preg...
PGT-A should not be recommended to all patients; however, if the first IVF treatment failed, PGT-A may reduce the patient's burden regardless of age....
Prostate cancer (PCa) is characterized by profound genomic heterogeneity. Recent advances in personalized treatment entail an increasing need of genomic profiling. For localized PCa, gene expression a...
Preconception genetic testing is carried out to inform couples on their carrier status for recessive or X-linked genetic disease, and aims to extend their possible reproductive choices. These genetic ...
Establishing a genetic diagnosis may lead to major health benefits for the patient and their wider family, but is dependent on the accurate interpretation of test results. The processes of variant int...
We evaluated changes in genetic testing for neonatal-onset epilepsy and associated short-term outcomes over an 8-year period among a cohort of patients in the neonatal intensive care unit (NICU) at a ...
Our primary outcome was a change in length of stay (LOS) after 2018. We also ascertained severity of illness with the Neonatal Sequential Organ Failure Assessment (nSOFA), type and result of genetic t...
Fifty-three infants with genetic testing were included; 20 infants were tested after 2018. A total of 4160 infants in the NICU without genetic testing were used as reference. In the genetic testing gr...
In this cohort, changes in genetic testing for neonatal-onset epilepsy were associated with shorter LOS that was not explained by changes in severity of illness, birth weight, or the average LOS in th...
Extracardiac anomalies (ECAs) are strong predictors of genetic disorders in infants with congenital heart disease (CHD), but there are no prior studies assessing performance of ECA status as a screen ...
Pregnancy planning and genetic testing (PPGT) has emerged as a tool in reproductive healthcare, offering parents-to-be insight in their risks of having a child with a genetic disorder. This paper revi...
Global developmental delay (GDD) is characterized by a complex etiology, diverse phenotypes, and high individual heterogeneity, presenting challenges for early clinical etiologic diagnosis. Cognitive ...
To assess the utility of genetic detection in patients with GDD and to examine the potential molecular pathogenesis of GDD to identify targets for early intervention....
This multicenter, prospective cohort study enrolled patients aged 12 to 60 months with GDD from 6 centers in China from July 4, 2020, to August 31, 2023. Participants underwent trio whole exome sequen...
The main outcomes of this study involved enhancing the rate of positive genetic diagnosis for GDD, broadening the scope of genetic testing indications, and investigating the underlying pathogenesis. T...
The study encompassed 434 patients with GDD (262 [60%] male; mean [SD] age, 25.75 [13.24] months) with diverse degrees of cognitive impairment: mild (98 [23%]), moderate (141 [32%]), severe (122 [28%]...
In this cohort study of patients with GDD, combining trio-WES with CNV-seq was a demonstrable, instrumental strategy for advancing the diagnosis of GDD. The close association among genetic variations,...
Congenital cataracts account for a significant proportion of blindness in children worldwide. They affect approximately 12-136 per 100,000 births worldwide. A genetic etiology is present in a large pr...