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 :
Microarray Analysis
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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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"headline": "Facteurs de risque sur N-terminal acetyltransferase E",
"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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Osteoarthritis (OA) is marked by the progressive degradation of joint cartilage and subchondral bone. The precise molecular mechanisms driving meniscus deterioration in OA, especially at the single-ce...
We analyzed two datasets from the GEO database, GSE220243 and GSE98918, focusing on meniscus tissue sequencing data from OA and non-OA patients. The standard Seurat procedure was employed to process s...
After quality control, 34,763 cells from the OA patients and 34,145 cells from the healthy controls were analyzed. UMAP identified and SingleR annotated 14 cell clusters. The 10 largest cell clusters ...
This research highlights crucial genes in the OA meniscus and uncovers their differing regulatory patterns between chondrocytes and non-chondrocytes. These findings enhance our understanding of the mo...
(1) Purpose: Retrospective back-to-back comparisons were performed to evaluate the accuracy, effectiveness, and incremental yield of chromosome microarray analysis (CMA) and exome sequencing (ES) anal...
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The study recruited 1452 pregnant women with abnormal DS screening results including 493 with an enlarged nuchal translucency thickness (NT ≥ 2.5 mm) and 959 with an abnormal second-trimester maternal...
CMA identified 74/1452 abnormal results, which was more efficient than karyotyping (51/1452, P < 0.05.) CMA is equivalent to traditional karyotyping for identifying aneuploidies. Compared to karyotypi...
CMA and karyotyping have both advantages and disadvantages in prenatal diagnosis of pregnant women with abnormal DS screening results. However, there was not enough evidence to support routine CMA in ...
Though copy number variants (CNVs) have been suggested to play a significant role in inborn errors of immunity (IEI), the precise nature of this role remains largely unexplored. We sought to determine...
We performed exome sequencing (ES) and CMA for 332 unrelated pediatric probands referred for evaluation of IEI. The analysis included primary, secondary, and incidental findings....
Of the 332 probands, 134 (40.4%) received molecular diagnoses. Of these, 116/134 (86.6%) were diagnosed by ES alone. An additional 15/134 (11.2%) were diagnosed by CMA alone, including two likely...
Pairing ES and CMA can provide a comprehensive evaluation to clarify the complex factors that contribute to both immune and non-immune phenotypes. Such a combined approach to genetic testing helps unt...
The aim of this study was to investigate the contribution of chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) to genetic diagnosis in fetuses with normal karyotype who underw...
The results of invasive genetic testing performed at a tertiary center between September 2020 and March 2022 were retrospectively analyzed. Indications for invasive tests were classified as fetal stru...
A total of 830 invasive tests were performed and aneuploidy was detected in 11.2% of the fetuses. CMA was performed in 465 fetuses with normal karyotype, and pCNVs were detected in 6.9%. pCNVs were de...
pCNVs can be significantly detected not only in fetuses with structural malformations, but also in invasive testing with other indications. NGS significantly contributes to genetic diagnosis in fetuse...
Chromosomal microarray analysis (CMA) may detect variants of uncertain clinical significance (VUS) and susceptibility loci (SL) with incomplete penetrance for neurodevelopmental disorders. This qualit...
Semi-structured interviews were conducted with women who received a VUS and/or SL from prenatal CMA in the last 2-4 years and were analyzed using Grounded Theory....
The vast majority of women recalled being stressed by the findings. All women sought further advice and information to be able to decide whether to continue or terminate their pregnancy. The three pre...
Although uncertain/probabilistic information commonly involves a psychological burden, it may also be perceived as valuable and actionable. Pre-test parental choice regarding the disclosure of such in...
Aneuploidies are the most common chromosomal abnormality and the main genetic cause of adverse pregnancy outcomes. Since numerous studies have focused on common trisomies, relatively little is known a...
A total of 90 RAAs were detected, of which 83 cases were mosaic trisomies and 7 were non-mosaic trisomies. Chromosomes 16, 22, and 9 were identified as the major chromosomes involving RAAs. The four p...
Variable phenotypes and outcomes were observed, which were highly heterogeneous in cases of prenatal RAAs. Thus, a cautious and comprehensive strategy should be implemented during prenatal counseling ...
Alzheimer's disease is a prevalent health problem with a heavy global burden. Definitely diagnosed by autopsy, the clear mechanism of Alzheimer's disease pathogenesis process needs to be illustrated. ...
We attempted to discover the role of microRNA in Alzheimer's disease by microarray bioinformatics analysis using autopsy sample data from the GEO database. Temporal cortex samples were included in thi...
After filtering out significantly differential expressed microRNAs and genes, enrichment analyses of both microRNAs and genes were conducted, respectively. Then, we constructed a transcription factor-...
Hsa-miR-365b-5p act as a key target in Alzheimer's disease. It regulates Alzheimer's disease pathogenesis process via neuroinflammation, Wnt and oxidative stress pathway which provides a potential tar...
Background: There are few studies on the detection rate by chromosomal microarray analysis (CMA) of the prenatal diagnosis of talipes equinovarus (TE) compared to conventional karyotyping. We aimed to...
(1) Objective: To evaluate the application of chromosomal microarray analysis (CMA) in fetuses with pulmonary atresia (PA) and to explore the risk factors for predicting chromosomal imbalances and adv...
