questionsmedicales.fr
Enzymes et coenzymes
Enzymes
Transferases
Acyltransferases
Acetyltransferases
N-terminal acetyltransferases
N-terminal acetyltransferases : Questions médicales fréquentes
Termes MeSH sélectionnés :
Elasticity Imaging Techniques
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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"name": "Les biopsies sont-elles nécessaires pour le diagnostic ?",
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"@type": "Question",
"name": "Les symptômes varient-ils selon le type d'enzyme affectée ?",
"position": 7,
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"position": 8,
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"name": "Les symptômes apparaissent-ils dès la naissance ?",
"position": 10,
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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."
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{
"@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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"name": "L'alimentation peut-elle jouer un rôle préventif ?",
"position": 13,
"acceptedAnswer": {
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"name": "Des dépistages réguliers sont-ils conseillés ?",
"position": 14,
"acceptedAnswer": {
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"name": "Les vaccinations peuvent-elles aider ?",
"position": 15,
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"text": "Les vaccinations ne préviennent pas les déficiences enzymatiques, mais protègent contre d'autres maladies."
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"name": "Quels traitements sont disponibles pour les déficiences en N-terminal acetyltransferases ?",
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"name": "Les suppléments nutritionnels peuvent-ils aider ?",
"position": 17,
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"name": "La thérapie génique est-elle une option ?",
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"@type": "Question",
"name": "Les médicaments peuvent-ils améliorer la fonction enzymatique ?",
"position": 19,
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"name": "Y a-t-il des traitements symptomatiques disponibles ?",
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"position": 21,
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"position": 22,
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"name": "Y a-t-il un risque accru de maladies associées ?",
"position": 23,
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"name": "Les complications affectent-elles la qualité de vie ?",
"position": 24,
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"@type": "Question",
"name": "Des soins palliatifs sont-ils nécessaires ?",
"position": 25,
"acceptedAnswer": {
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"@type": "Question",
"name": "Quels sont les facteurs de risque pour ces déficiences ?",
"position": 26,
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"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 ?",
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"text": "Oui, certains troubles se manifestent plus fréquemment chez les jeunes enfants."
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"@type": "Answer",
"text": "Des études montrent que certains troubles peuvent affecter différemment les sexes."
}
}
]
}
]
}
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" :
Tissues' biomechanical properties, such as elasticity, are related to tissue health. Optical coherence elastography produces images of tissues based on their elasticity, but its performance is constra...
We develop a new method to reconstruct the elasticity contrast image over a long working distance, with only low-intensity illumination, and by non-contact acoustic wave excitation....
We combine single-photon vibrometry and quantum parametric mode sorting (QPMS) to measure the oscillating backscattered signals at a single-photon level and derive the phantoms' relative elasticity....
We test our system on tissue-mimicking phantoms consisting of contrast sections with different concentrations and thus stiffness. Our results show that as the driving acoustic frequency is swept, the ...
We demonstrated the reliability of QPMS-based elasticity contrast imaging of agar phantoms in a long working distance, low-intensity environment. This technique has the potential for in-depth images o...
Shear wave velocity (SWV) reconstruction based on time-of-flight (TOF) is widely adopted to realize shear wave elasticity imaging (SWEI). It typically breaks down the reconstruction of a SWV image int...
Ultrasound shear wave elasticity imaging is a valuable tool for quantifying the elastic properties of tissue. Typically, the shear wave velocity is derived and mapped to an elasticity value, which neg...
Shear wave elasticity imaging (SWEI) usually assumes an isotropic material; however, skeletal muscle is typically modeled as a transversely isotropic material with independent shear wave speeds in the...
Pregnancy complications such as pre-eclampsia (PE) and intrauterine growth restriction (IUGR) are associated with structural and functional changes in the placenta. Different elastography techniques w...
To explore the diagnostic performance of renal cortical elasticity expressed by Young's modulus (YM) using the supersonic shear wave imaging (SSI) technique in pediatric glomerular disease....
Seventy-one children with glomerular disease confirmed by renal biopsy and sixty healthy volunteers were enrolled in this study. Conventional and SSI ultrasound examinations were performed in all indi...
Regardless of which pole and which side of the kidney, the YM in the disease group was significantly higher than that in the control group (P < 0.001). The YM of the middle pole in the left kidney dem...
SSI technology is a non-invasive and feasible method for the diagnosis of pediatric glomerular disease. However, SSI did not show good performance in distinguishing different pathological types and di...
The mechanical and electrical properties of soft tissues are relative to soft tissues' pathological state. Modern medical imaging devices have shown a trend to multi-modal imaging, which will provide ...
To study the value of shear wave elasticity and shear wave dispersion imaging to evaluate the viscoelasticity of renal parenchyma in children with glomerular diseases....
Forty-three children with glomerular diseases were prospectively evaluated by shear wave elasticity (SWE) and shear wave dispersion imaging (SWD); 43 healthy volunteers served as the control group. Th...
The mean SWV in children with glomerular disease was higher than that in the healthy control group (1.61 ± 0.09 m/s vs. 1.43 ± 0.07 m/s, p < 0.001). Compared with healthy group, the mean dispersion sl...
The present study shows that it is feasible to use SWE and SWD to evaluate the difference of viscoelasticity of the renal parenchyma between healthy children and those with glomerular disease....
Harmonic motion imaging (HMI) is an ultrasound-based elasticity imaging technique that utilizes oscillatory acoustic radiation force to estimate the mechanical properties of tissues, as well as monito...
To discuss role of different diagnostic imaging modalities in differentiation of benign testicular masses from seminomatous germ cell tumors (SGCTs) and non-seminomatous GCTs (NSGCTs)....
New modalities of ultrasonography, including contrast enhancement and shear wave elastography, may help differentiate between benign and malignant intratesticular lesions. Ultrasonography remains the ...