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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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"name": "Quels sont les symptômes d'une maladie des canaux sodiques ?",
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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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"name": "Comment les douleurs neuropathiques se manifestent-elles ?",
"position": 8,
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"position": 9,
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"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines conditions peuvent affecter la cognition en perturbant la signalisation neuronale."
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"@type": "Question",
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"position": 11,
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"name": "Les examens réguliers sont-ils importants ?",
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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."
}
}
]
}
]
}
Preimplantation genetic testing for aneuploidy (PGT-A) has been used widely during in vitro fertilization procedures in assisted reproductive centers throughout the world. Despite its wide use, concer...
Retinitis pigmentosa (RP) is a genetically heterogeneous retinal dystrophy which results in progressive vision loss. There is scant literature on the experiences of genetic testing in patients with RP...
Patients with a clinical diagnosis of RP who received genetic testing at the Wills Eye Ocular Genetics clinic between 2016 and 2020 were recruited. Telephone interviews were conducted using a semi-str...
Twelve patients participated. Seven participants identified as female and five as male, with ages ranging from 22 to 70. Ten patients had positive genetic test results, while two had negative genetic ...
Patients with RP are generally satisfied with their testing experience, despite approaching testing with a wide range of motivations and expectations. Future research can leverage this methodology to ...
There is growing clinical and research utilization of genetic testing in Parkinson's disease (PD), including direct-to-consumer testing....
The aim is to determine the international landscape of genetic testing in PD to inform future worldwide recommendations....
A web-based survey assessing current practices, concerns, and barriers to genetic testing and counseling was administered to the International Parkinson and Movement Disorders Society membership....
Common hurdles across sites included cost and access to genetic testing, and counseling, as well as education on genetic counseling. Region-dependent differences in access to and availability of testi...
This survey highlights not only diversity of barriers in different regions but also the shared and highly actionable needs for improved education and access to genetic counseling and testing for PD wo...
Direct-to-consumer genetic test (DTC-GT) has been developing into an enormous market in China. Though no existing laws are directly applicable to DTC-GT, relevant laws and regulations are gradually be...
To report the genotype and phenotype of a cohort of unselected uveal melanoma (UM) patients who had germline multi-gene panel genetic testing, including the...
A retrospective chart review of clinical and genetic findings of unselected UM patients who had germline genetic testing between December 2019 and October 2021 was conducted. Extracted DNA from periph...
In unselected UM patients, 3.5% (4/114) tested positive for a...
A germline...
Preimplantation genetic testing for monogenic/single-gene disorders (PGT-M) is a procedure employed in the field of assisted reproductive technology to avoid the transmission of genetic diseases to th...
Familial hypercholesterolemia (FH) is an inherited disorder characterized by abnormally elevated low-density lipoprotein (LDL) cholesterol serum levels from birth, which increases the risk of prematur...
We performed a systematic literature search of the clinical evidence. For evaluation of clinical utility, we assessed the risk of bias of each included study using the ROBINS-I tool and the quality of...
We included 11 studies in the clinical evidence review. Overall, our review found that genetic testing to diagnose FH improves several health outcomes (GRADE: Moderate) compared with clinical evaluati...
Genetic testing for FH has a higher clinical utility than clinical evaluation without a genetic test. It also results in a high diagnostic yield of FH through cascade screening. For individuals with a...
Non-invasive preimplantation genetic testing emerged from the discovery of embryonic DNA in spent embryo culture medium. Considering that such methodology would be an important advance in assisted rep...
Predictive genetic testing can provide information about whether or not someone will develop or is likely to develop a specific condition at a later stage in life. Economic evaluation can assess the v...
Noninvasive and minimally invasive preimplantation genetic testing for aneuploidy (PGT-A) is a tool that may one day become the gold standard for embryonic chromosomal screening. Investigations on thi...