questionsmedicales.fr
Enzymes et coenzymes
Enzymes
Transferases
Acyltransferases
Acetyltransferases
N-terminal acetyltransferases
N-terminal acetyltransferases : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Acétylation
Tests génétiques
Biopsie
Analyse histologique
Protéines
Marqueurs biologiques
Imagerie médicale
Diagnostic
Symptômes
5
Troubles neurologiques
Anomalies métaboliques
Enzymes
Symptômes cliniques
Dermatologie
Éruptions cutanées
Troubles cognitifs
Métabolisme
Prévention
5
Prévention
Diagnostic précoce
Conseils génétiques
Risque héréditaire
Alimentation
Santé métabolique
Dépistage
Antécédents familiaux
Vaccination
Prévention des maladies
Traitements
5
Thérapie enzymatique
Approches diététiques
Suppléments nutritionnels
Métabolisme
Thérapie génique
Recherche
Médicaments
Fonction enzymatique
Traitements symptomatiques
Gestion des symptômes
Complications
5
Complications neurologiques
Complications métaboliques
Réversibilité
Gestion des complications
Maladies associées
Risque accru
Qualité de vie
Impact sur la santé
Soins palliatifs
Confort du patient
Facteurs de risque
5
Facteurs de risque
Mutations génétiques
Facteurs environnementaux
Prédispositions génétiques
Maladies auto-immunes
Dysfonction enzymatique
Sexe
Différences de genre
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"name": "Comment diagnostiquer une déficience en N-terminal acetyltransferases ?",
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"text": "Des tests génétiques et des analyses protéomiques peuvent identifier des anomalies."
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"@type": "Question",
"name": "Quels tests sont utilisés pour évaluer l'activité des N-terminal acetyltransferases ?",
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"@type": "Question",
"name": "Les biopsies sont-elles nécessaires pour le diagnostic ?",
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"name": "Peut-on utiliser l'imagerie pour le diagnostic ?",
"position": 5,
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{
"@type": "Question",
"name": "Quels symptômes sont associés à une déficience en N-terminal acetyltransferases ?",
"position": 6,
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{
"@type": "Question",
"name": "Les symptômes varient-ils selon le type d'enzyme affectée ?",
"position": 7,
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}
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{
"@type": "Question",
"name": "Y a-t-il des symptômes cutanés associés ?",
"position": 8,
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"@type": "Question",
"name": "Les troubles cognitifs sont-ils liés à ces enzymes ?",
"position": 9,
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"@type": "Question",
"name": "Les symptômes apparaissent-ils dès la naissance ?",
"position": 10,
"acceptedAnswer": {
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"@type": "Question",
"name": "Peut-on prévenir les déficiences en N-terminal acetyltransferases ?",
"position": 11,
"acceptedAnswer": {
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"text": "La prévention est difficile, mais un diagnostic précoce peut aider à gérer les symptômes."
}
},
{
"@type": "Question",
"name": "Les conseils génétiques sont-ils recommandés ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les conseils génétiques peuvent être utiles pour les familles à risque."
}
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{
"@type": "Question",
"name": "L'alimentation peut-elle jouer un rôle préventif ?",
"position": 13,
"acceptedAnswer": {
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"text": "Une alimentation équilibrée peut soutenir la santé métabolique, mais ne prévient pas directement."
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"@type": "Question",
"name": "Des dépistages réguliers sont-ils conseillés ?",
"position": 14,
"acceptedAnswer": {
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{
"@type": "Question",
"name": "Les vaccinations peuvent-elles aider ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les vaccinations ne préviennent pas les déficiences enzymatiques, mais protègent contre d'autres maladies."
}
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"@type": "Question",
"name": "Quels traitements sont disponibles pour les déficiences en N-terminal acetyltransferases ?",
"position": 16,
"acceptedAnswer": {
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"text": "Les traitements peuvent inclure des thérapies enzymatiques et des approches diététiques."
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"@type": "Question",
"name": "Les suppléments nutritionnels peuvent-ils aider ?",
"position": 17,
"acceptedAnswer": {
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"@type": "Question",
"name": "La thérapie génique est-elle une option ?",
"position": 18,
"acceptedAnswer": {
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"text": "La thérapie génique est en recherche, mais elle pourrait offrir des solutions futures."
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"@type": "Question",
"name": "Les médicaments peuvent-ils améliorer la fonction enzymatique ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains médicaments expérimentaux visent à améliorer l'activité des enzymes déficientes."
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"@type": "Question",
"name": "Y a-t-il des traitements symptomatiques disponibles ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des traitements symptomatiques peuvent aider à gérer les manifestations cliniques."
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"@type": "Question",
"name": "Quelles complications peuvent survenir avec ces déficiences ?",
"position": 21,
"acceptedAnswer": {
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"text": "Des complications neurologiques, métaboliques et immunitaires peuvent se développer."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes."
}
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"@type": "Question",
"name": "Y a-t-il un risque accru de maladies associées ?",
"position": 23,
"acceptedAnswer": {
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"text": "Oui, les déficiences peuvent augmenter le risque de maladies métaboliques et neurologiques."
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"@type": "Question",
"name": "Les complications affectent-elles la qualité de vie ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications peuvent significativement impacter la qualité de vie des patients."
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"@type": "Question",
"name": "Des soins palliatifs sont-ils nécessaires ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Dans les cas graves, des soins palliatifs peuvent être nécessaires pour améliorer le confort."
}
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"@type": "Question",
"name": "Quels sont les facteurs de risque pour ces déficiences ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux et certaines mutations génétiques sont des facteurs de risque clés."
}
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"@type": "Question",
"name": "L'âge joue-t-il un rôle dans le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains troubles se manifestent plus fréquemment chez les jeunes enfants."
}
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"@type": "Question",
"name": "Les facteurs environnementaux influencent-ils le risque ?",
"position": 28,
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"name": "Les maladies auto-immunes sont-elles un facteur de risque ?",
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 03/03/2025
Contenu vérifié selon les dernières recommandations médicales
11 publications dans cette catégorie
Affiliations :
Department of Biological Sciences, University of Bergen, Bergen, Norway.
Department of Biomedicine, University of Bergen, Bergen, Norway.
Department of Surgery, Haukeland University Hospital, Bergen, Norway.
5 publications dans cette catégorie
Affiliations :
Department of Chemistry, University of Pennsylvania, Philadelphia, PA, United States; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States. Electronic address: marmor@upenn.edu.
Publications dans "N-terminal acetyltransferases" :
4 publications dans cette catégorie
Affiliations :
Department of Chemistry, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United States.
Publications dans "N-terminal acetyltransferases" :
4 publications dans cette catégorie
Affiliations :
Epigenetics and Gene Regulation Laboratory, Department of Biological Sciences, University of Cyprus, Nicosia 2109, Cyprus.
Publications dans "N-terminal acetyltransferases" :
4 publications dans cette catégorie
Affiliations :
Department of Biomedicine, University of Bergen, Bergen, Norway. Electronic address: henriette.aksnes@uib.no.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Biological Sciences, University of Notre Dame , Notre Dame, Indiana, USA.
Eck Institute for Global Health, University of Note Dame , Notre Dame, Indiana, USA.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Chemistry and Biochemistry, University of Notre Dame , Notre Dame, Indiana, USA.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Chemistry and Biochemistry, University of Notre Dame , Notre Dame, Indiana, USA.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Eck Institute for Global Health, University of Note Dame , Notre Dame, Indiana, USA.
Department of Chemistry and Biochemistry, University of Notre Dame , Notre Dame, Indiana, USA.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Biological Sciences, University of Notre Dame , Notre Dame, Indiana, USA.
Eck Institute for Global Health, University of Note Dame , Notre Dame, Indiana, USA.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Heidelberg University Biochemistry Center, 69120 Heidelberg, Germany.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Centre for Organismal Studies, Heidelberg University, 69120 Heidelberg, Germany.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Heidelberg University Biochemistry Center, 69120 Heidelberg, Germany. Electronic address: irmi.sinning@bzh.uni-heidelberg.de.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Biochemistry and Biophysics, Abramson Family Cancer Research Institute, Graduate Group in Biochemistry and Molecular Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United States.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Epigenetics and Gene Regulation Laboratory, Department of Biological Sciences, University of Cyprus, Nicosia 2109, Cyprus.
Cyprus Cancer Research Institute, Nicosia 2109, Cyprus.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
VIB-UGent Center for Medical Biotechnology, Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
College of Life Sciences, Capital Normal University, Beijing, 100048, China.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Biomedicine, University of Bergen, 5020 Bergen, Norway.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Chemistry, University of Pennsylvania, 231 South 34(th) Street, Philadelphia, PA 19104, USA.
Publications dans "N-terminal acetyltransferases" :
3 publications dans cette catégorie
Affiliations :
Department of Chemistry, University of Pennsylvania, 231 South 34(th) Street, Philadelphia, PA 19104, USA; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, 421 Curie Boulevard, Philadelphia, PA 19104, USA.
Publications dans "N-terminal acetyltransferases" :
Delivery time factor (DTF) is a new parameter introduced by the RayStation treatment planning system for tomotherapy treatment planning. This study investigated the effects of this factor on various t...
To clarify the characteristics of intraocular lens (IOL) dislocation requiring IOL suture or intraocular scleral fixation....
This retrospective consecutive case series included 21 eyes (21 patients) who required sutured or sutureless intrascleral IOL fixation following IOL extraction owing to IOL dislocation at the outpatie...
We included 21 eyes of 21 patients who required IOL suture or intrascleral fixation for IOL dislocation at our clinic from January to December 2019 were included. The most common background disease wa...
In this study, all 21 cases represented late IOL dislocations occurring after 3 months postoperatively. Among these late IOL dislocation cases, IOL dislocation occurred in a short-medium period of tim...
Large-scale and multidimensional spatiotemporal data sets are becoming ubiquitous in many real-world applications such as monitoring urban traffic and air quality. Making predictions on these time ser...
Postmeningitis deafness appears in 0-11% of the meningitis cases. Cochlear ossification can develop in these patients, which may make the hearing rehabilitation impossible with cochlear implantation. ...
The aim of this study was to examine the time factor between the appearance of deafness and the first examination in a cochlear implant centre, the possibilities and effectivity of hearing rehabilitat...
In our tertial referral centre, postmeningitis deafened patients were examined between 2014 and 2022 retrospectively. Hearing results, imaging, possibilities of rehabilitation, complications of cochle...
8 patients (3 children, 5 adults) were investigated. The time between the start of deafness and the first appearance varied between 3 weeks to 9 years. Bilateral profound hearing loss was measured in ...
The rehabilitation of severe hearing loss caused by meningitis can present many challenges to clinicians. A critical point in the care is the urgent referral of patients to a cochlear implantation cen...
It is recommended to develop a new protocol with the involvement of allied professions to clear patient pathways for an effective treatment strategy. Orv Hetil. 2023; 164(19): 729-738....
The duty factor (reflecting the ratio of stance to flight time) is an important variable related to running performance, economy, and injury risk. According to the dual-axis model, the duty factor and...
Can people modulate their duty factor based on verbal instructions to change either their stance or flight time without changing their cadence? And, if so, which instruction is most effective?...
Twelve participants ran on an instrumented treadmill and completed four training blocks starting with a baseline trial and ending with a performance trial in which they followed verbal instructions to...
The duty factor changed in intended directions with verbal instructions to increase and decrease the stance and flight time (18.04 ≤ BF...
Runners can change their duty factor through verbal instructions pertaining to stance or flight time, without clear concomitant effects on cadence. Running styles can thus be altered with verbal instr...
Cholecystectomy is one of the most frequently performed surgeries in Germany and is performed as a treatment of acute cholecystitis (guideline S3 IIIB.8) and after endoscopic retrograde cholangiopancr...
Methodologically, a retrospective analysis based on routine billing data from 84 Helios Group hospitals from 2016 and 2022, with a total of 45 393 included cases, was applied. The guideline adherence ...
Results show the guideline updates led to a statistically significant increase in the proportion of cholecystectomy performed in a timely manner (guideline S3 IIIB.8: increase from 43% to 49%, p<0.001...
As possible reasons for non-adherence, medical factors such as advanced age, multimorbidity and frailty could be identified. Analyses of structural factors revealed that hospitals in very rural region...
In this paper, two distributed finite-time neurodynamic algorithms are proposed to collaboratively manage the charging scheme of electric vehicles (EVs) in the microgrid scenario. First, the upper lev...
Rotator cuff pathology in competitive athletes is common and may produce chronic symptoms and joint disability, impairing sports participation and leading to premature retirement. Athletes are a high-...
To investigate the time-dependent effects of traditional risk factors on functional disability in all-cause mortality post-stroke, we evaluated data from a long-term stroke cohort. Baseline cerebrovas...
Financial management and decision-making of universities play an essential role in their development. Predicting fund revenue and expenditure of universities can provide a necessary basis for funds ri...