N-terminal acetyltransferase E : Questions médicales fréquentes
Nom anglais: N-Terminal Acetyltransferase E
Descriptor UI:D063213
Tree Number:D08.811.913.050.134.423.500
Termes MeSH sélectionnés :
Polymorphism, Genetic
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"description": "Comment diagnostiquer une déficience en N-terminal acetyltransferase E ?\nQuels tests sont utilisés pour évaluer l'activité de cette enzyme ?\nY a-t-il des biomarqueurs associés à cette enzyme ?\nQuels symptômes peuvent indiquer un problème avec cette enzyme ?\nPeut-on détecter des mutations génétiques liées à cette enzyme ?",
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"description": "Quels sont les facteurs de risque associés à cette enzyme ?\nL'environnement joue-t-il un rôle dans cette condition ?\nLes facteurs de risque sont-ils modifiables ?\nY a-t-il des groupes à risque plus élevé ?\nLes tests de dépistage sont-ils recommandés pour les familles à risque ?",
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"@type": "Question",
"name": "Comment diagnostiquer une déficience en N-terminal acetyltransferase E ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le diagnostic repose sur des tests génétiques et des analyses enzymatiques."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour évaluer l'activité de cette enzyme ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests biochimiques mesurant l'acétylation des protéines sont utilisés."
}
},
{
"@type": "Question",
"name": "Y a-t-il des biomarqueurs associés à cette enzyme ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'existe pas de biomarqueurs spécifiques largement reconnus."
}
},
{
"@type": "Question",
"name": "Quels symptômes peuvent indiquer un problème avec cette enzyme ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des troubles métaboliques ou neurologiques peuvent suggérer une anomalie."
}
},
{
"@type": "Question",
"name": "Peut-on détecter des mutations génétiques liées à cette enzyme ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des mutations dans le gène codant pour l'enzyme peuvent être identifiées."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes d'une déficience en N-terminal acetyltransferase E ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes peuvent inclure des troubles neurologiques et des anomalies de croissance."
}
},
{
"@type": "Question",
"name": "Les symptômes varient-ils selon l'âge ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes peuvent se manifester différemment selon l'âge du patient."
}
},
{
"@type": "Question",
"name": "Y a-t-il des symptômes spécifiques à surveiller ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des retards de développement et des troubles cognitifs sont à surveiller."
}
},
{
"@type": "Question",
"name": "Les symptômes sont-ils réversibles ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains symptômes peuvent être gérés, mais d'autres peuvent être permanents."
}
},
{
"@type": "Question",
"name": "Comment les symptômes évoluent-ils avec le temps ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes peuvent s'aggraver avec le temps sans intervention appropriée."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir les troubles liés à cette enzyme ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention est difficile, mais un diagnostic précoce peut aider à gérer les symptômes."
}
},
{
"@type": "Question",
"name": "Y a-t-il des conseils diététiques pour les patients ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation équilibrée et riche en nutriments est recommandée."
}
},
{
"@type": "Question",
"name": "Les tests génétiques peuvent-ils aider à la prévention ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests génétiques peuvent identifier les porteurs et les risques."
}
},
{
"@type": "Question",
"name": "Les vaccinations sont-elles importantes pour ces patients ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les vaccinations sont importantes pour prévenir les infections, surtout chez les enfants."
}
},
{
"@type": "Question",
"name": "Comment le suivi médical aide-t-il à la prévention ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un suivi régulier permet d'identifier et de traiter rapidement les complications."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour cette condition ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements incluent la thérapie symptomatique et le soutien nutritionnel."
}
},
{
"@type": "Question",
"name": "Y a-t-il des médicaments spécifiques pour cette enzyme ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'existe pas de médicaments spécifiques ciblant cette enzyme."
}
},
{
"@type": "Question",
"name": "La thérapie génique est-elle une option ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "La thérapie génique est en recherche, mais pas encore disponible cliniquement."
}
},
{
"@type": "Question",
"name": "Comment la physiothérapie peut-elle aider ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "La physiothérapie peut améliorer la mobilité et la fonction physique des patients."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils personnalisés ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les traitements peuvent être adaptés en fonction des symptômes et des besoins."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec cette condition ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des troubles neurologiques graves et des retards de développement."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles évitables ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être évitées avec un traitement précoce et approprié."
}
},
{
"@type": "Question",
"name": "Comment les complications affectent-elles la qualité de vie ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications peuvent significativement réduire la qualité de vie des patients."
}
},
{
"@type": "Question",
"name": "Y a-t-il des risques de complications à long terme ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des risques de complications à long terme existent sans intervention adéquate."
}
},
{
"@type": "Question",
"name": "Les complications peuvent-elles être gérées ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, de nombreuses complications peuvent être gérées avec un suivi médical approprié."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque associés à cette enzyme ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs de risque incluent des antécédents familiaux et des mutations génétiques."
}
},
{
"@type": "Question",
"name": "L'environnement joue-t-il un rôle dans cette condition ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des facteurs environnementaux peuvent influencer l'expression des gènes liés à l'enzyme."
}
},
{
"@type": "Question",
"name": "Les facteurs de risque sont-ils modifiables ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains facteurs, comme le mode de vie, peuvent être modifiés pour réduire les risques."
}
},
{
"@type": "Question",
"name": "Y a-t-il des groupes à risque plus élevé ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les individus avec des antécédents familiaux de troubles métaboliques sont à risque."
}
},
{
"@type": "Question",
"name": "Les tests de dépistage sont-ils recommandés pour les familles à risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le dépistage génétique est recommandé pour les familles avec des antécédents."
}
}
]
}
]
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Heme-oxygenase 1 (HMOX1) is a critical stress response gene that catalyzes the multistep oxidation of heme. A GT(n) repeat of variable length in the promoter in has been associated with a wide range o...
A search using relevant terms was performed in PubMED and EMBASE through to 15/01/21 identifying all research that studied an association between the HMOX1 GT(n) repeat polymorphism and the incidence ...
1,533 studies were identified in the search, and one via citation screening. Sixteen studies were ultimately included, seven in malaria, three in HIV, three in sepsis, and one each in pneumonia, hepat...
Despite the importance of HMOX1 in survival from infection, and the association between repeat length and gene expression, the clinical data supporting an association between repeat length and inciden...
The Kazakhs are one of the biggest Turkic-speaking ethnic groups, controlling vast swaths of land from the Altai to the Caspian Sea. In terms of area, Kazakhstan is ranked ninth in the world. Northern...
The Kazakhstan Y-chromosome Haplotype Reference Database was expanded with 468 Kazakh males from the Zhambyl and Turkestan regions of South Kazakhstan by having their 27 Y-STR loci and 23 Y-SNP marker...
The Kazakhstan Y-chromosome Haplotype Reference Database was formed for 27 Y-STR loci with a total sample of 1796 samples of Kazakhs from 16 regions of Kazakhstan. The variability of the Y-chromosome ...
Tardive dyskinesia (TD) is a prevalent movement disorder that significantly impacts patients with schizophrenia (SCZ) due to extended exposure to antipsychotics (AP). Several genetic polymorphisms, in...
Mitochondrial DNA (mtDNA) analysis is a genetic marker for human identification, especially matrilineal inheritance. Hypervariable regions (HVR) I and II of mtDNA have been currently performed for hum...
Amoebiasis is an infection caused by enteric protozoa, most commonly Entamoeba histolytica, and is globally considered a potentially severe and life-threatening condition. To understand the impact of ...
Occupational exposure to toluene causes serious health problems ranging from drowsiness to lethal diseases such as cancer. Paint workers are exposed to toluene through inhalation or the dermal route, ...
First, we included skilled paint workers (n = 30) as exposed and healthy individuals (n = 30) as control belonging to the same socio-economic strata. The genotoxicity biomarkers, Cytokinesis-block mic...
A significantly higher frequency of CBMN (4.43 ± 1.50) and tail moment (TM) (11.23 ± 1.0) respectively in paint workers as compared to the control(1.50 ± 0.86 and (0.54 ± 0.37) underlined significantl...
Overall, our study provides a strong rationale for identifying a clear association between glutathione-S-transferase polymorphism and genetic damage in paint workers....
To identify, critically evaluate and synthesize the evidence obtained from systematic reviews on the association between genetic polymorphisms and osteoarthritis (OA) development....
Considering gene polymorphisms associated with OA susceptibility (risk or protection), a comprehensive search was conducted in the following databases, without date or language restrictions: MEDLINE, ...
We included 14 systematic reviews of case-control studies comparing individuals with a radiographic diagnosis of all OA types and healthy controls, all submitted to the genetic examination of differen...
Based on low-quality to critically-low-quality systematic reviews, some gene polymorphisms seem to be associated with risk or protection for OA. Further high-quality studies are needed to validate the...
Tolperisone, a muscle relaxant used for post-stroke spasticity, is metabolized to its main metabolite by CYP2D6 and to a lesser extent by CYP2C19 and CYP1A2. We investigated the effects of CYP2D6 and ...
Silicosis is a pneumoconiosis characterized by fibrosis of the lung parenchyma caused by inhalation of silica particles. Genetic factors might play a role in the severity silicosis. We sought to evalu...
Nine polymorphisms were genotyped by PCR in a sample of 143 patients with silicosis in the state of Rio de Janeiro, Brazil....
Fifty-seven patients (40%) were classified as having simple silicosis and 86 (60%) were classified as having complicated silicosis. The TT genotype of rs1800469 in the TGFB1 gene showed a protective e...
It appears that rs1800469 polymorphisms in the TGFB1 gene and rs763110 polymorphisms in the FASLG gene are involved in the severity of silicosis. Given the lack of studies relating genetic polymorphis...
Many pharmacokinetic studies of lacosamide (LCM) have been reported, but no large-scale clinical study has been conducted on genetic polymorphisms that affect the metabolism of LCM. Therefore, we desi...
Adult patients with epilepsy who received LCM at Seoul National University Hospital were enrolled. Blood samples were obtained from 115 patients taking LCM for more than 1 month with unchanged doses a...
The serum LCM concentration showed a linear correlation with the daily dose (r = .66, p < .001). In genetic analysis, 43 patients (38.7%) were extensive metabolizers (EMs), 51 (45.9%) were intermediat...
Genetic polymorphisms of the CYP2C19 gene affect the serum LCM concentration. Because efficacy and toxicity are apparently related to serum LCM levels, the genetic phenotype of CYP2C19 should be consi...