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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"@type": "Question",
"name": "Peut-on utiliser l'imagerie pour le diagnostic ?",
"position": 5,
"acceptedAnswer": {
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{
"@type": "Question",
"name": "Quels symptômes sont associés à une déficience en N-terminal acetyltransferases ?",
"position": 6,
"acceptedAnswer": {
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{
"@type": "Question",
"name": "Les symptômes varient-ils selon le type d'enzyme affectée ?",
"position": 7,
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"text": "Oui, chaque enzyme a des substrats spécifiques, entraînant des symptômes variés."
}
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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": {
"@type": "Answer",
"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."
}
},
{
"@type": "Question",
"name": "L'alimentation peut-elle jouer un rôle préventif ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"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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"@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."
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"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
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"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,
"acceptedAnswer": {
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"name": "Les maladies auto-immunes sont-elles un facteur de risque ?",
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"text": "Certaines maladies auto-immunes peuvent augmenter le risque de dysfonction enzymatique."
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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" :
The anatomy and physiology of the female orgasm are often neglected. The female orgasm is a normal psychophysiological function to all women, and some even can achieve ejaculation as part of the norma...
Despite some efforts to enhance clitoral knowledge to increase women's sexual pleasure, a gendered orgasm gap persists. We aimed to provide contemporary data on people's knowledge about the clitoris a...
Orgasm is a phase of the human sexual response, and the possible discrepancies between male and female ways to experience it are still not clear in the literature. There is a lack of tools to adequate...
The subjective orgasm experience (SOE) is the psychological perception of orgasm sensations and closely related to sexual health. Here, SOE was studied through the context in which it is experienced (...
The increasing number of subjects with benign prostate obstruction (BPO) has become a worldwide concern. The sexual problem after benign prostate enlargement (BPE) surgery that has received the most a...
We evaluated the prospective, multicenter clinical data of 104 patients undergoing BPE surgery who reported maintaining sexual activity from January 2016 to November 2020. The endpoint of this study w...
Orgasm function was stable, improved, and degraded in 34% (n=35), 30% (n=31), and 36% (n=38) respectively. A deterioration in orgasm was statistically significant in men who maintained quality ejacula...
To enable the patient to maintain a satisfying and healthy sex life after any BPE surgery, urologist physicians should know the prevalence of orgasmic side effects after surgical treatment to provide ...
Grade 4....
The endogenous μ-opioid receptor (MOR) system plays a key role in the mammalian reward circuit. Human and animal experiments suggest the involvement of MORs in human sexual pleasure, yet this hypothes...
To assess the reported changes in orgasm quality and function of transgender men (TM) and transgender women (TW) after commencing gender-affirming hormone therapy (GAHT)....
We queried potential changes in orgasm function before and after commencing GAHT (minimum 1 year) among 130 consecutive TW and 33 TM. We queried the following domains under a uniform condition (mastur...
Within groups by gender, TW and TM reported similar responses to our inventory before starting GAHT. After commencing GAHT, TW reported notable changes in orgasm function: increase in lead-time necess...
GAHT has the potential to positively improve orgasm quality for transgender patients undergoing gender transition. It is important to share such data with patients prospectively before treatments....
In a confidential U.S. nationally representative survey of 2,525 adults (1300 women, 1225 men), we examined participants' event-level sexual behaviors, predictors of pleasure and orgasm, and perceived...
Postpartum pelvic floor dysfunction is known to affect the quality of life of women and the methods to treat it are more complex with majority requiring training under supervision....
To compare the efficacy of sexually induced orgasm along with Kegels exercises versus Kegels exercises alone as a treatment method to enhance postpartum pelvic floor muscle strength and sexual functio...
The prospective randomized two-arm study was conducted on sexually active primiparous women who had undergone uncomplicated vaginal deliveries. Those with risk factors for female sexual dysfunction an...
Postpartum pelvic floor strength and sexual function in 2 groups of women under study....
The study period was from January 2020 to December 2020. The Group 1 had 26 participants (mean age 29.69 ± 2.2 years) and Group 2 had 29 participants (mean age 30.07 ± 2.57 years). The sexual function...
Novel method of using naturally occurring sexually induced orgasms for postpartum pelvic floor rehabilitation can revolutionize postpartum pelvic floor training in women, as it can be practiced at hom...
Use of prospective randomization and minimization of confounding factors is the strength of the study. The small sample size is the limitation of the study....
Postpartum pelvic floor muscle strength and sexual function in primiparous women who have undergone uncomplicated vaginal deliveries can be significantly improved with the addition of sexually induced...
The integrity of the neural pathways that link genital sensitive areas to the brain and the correlation with subjective sensations in transgender women with gender dysphoria after gender affirming sur...
To test with electrophysiology the integrity of the nervous paths after GAS, and to explore the relationship between genital sensitivity and self-perceived orgasmic intensity in transgender women afte...
Six patients who underwent GAS between 2016 and 2019 were enrolled in the study, and the evaluation of genital and pelvic neural pathways was performed....
Genital sensory thresholds (at clitoral, vaginal, and anal sites) investigated by Somatosensory Evoked Potentials (SEP) and the intensity of orgasm (measured by a psychometric tool, the Orgasmometer) ...
SSEPs confirmed the integrity of the large diameter, dorsal column-lemniscus pathway subserving the genital area after GAS. Perceptual Threshold (PT) values were much lower at the neoclitoris compared...
These findings could lead clinicians to a better understanding of postsurgical sexual life in transgender women in order to develop surgical techniques that could focus more on functional aspects of n...
Limitations: study very preliminary/exploratory; small number of patients; no long-term follow-up. Strengths: first assessment of sensory pelvic floor innervation in transgender women after GAS; use o...
Our evaluation showed that SSEPs is a good indicator of neural sensitivity, especially in neoclitoris, and that these measurements were consistent with the analysis of self-perceived orgasmic intensit...