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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"@type": "Question",
"name": "Comment diagnostiquer une déficience en N-terminal acetyltransferases ?",
"position": 1,
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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 ?",
"position": 3,
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"@type": "Question",
"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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}
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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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"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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"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,
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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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},
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"@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,
"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" :
Very little is known about contraceptive behavior in Appalachia, a large geographic region in the eastern United States where even basic prevalence estimates of contraceptive use/nonuse are lacking. T...
There is a dearth of research examining the couple characteristics in determining contractive utilization behavior in developing countries. This study fills the gap by analyzing the roles of women's i...
A sample of 13,331, excluding pregnant and sexually inactive married women aged 15-49, was extracted from the Pakistan Demographic and Health Survey 2017-18. The dataset is cross-sectional. Explorator...
Only 33% of women use contraceptives, while 30% express an intention to use contraceptives in the future. Almost all women (98%) knew about modern contraceptives. Compared to same-age couples, higher ...
Findings underscore the importance of considering the couple's characteristics in reproductive healthcare programming and policies....
Greater women's intra-household bargaining power and smaller spousal age differences are associated with higher contraceptive usage. Empowering women and promoting their decision-making authority with...
Putting an end to the silent pandemic of unsafe abortion is a major public health concern globally. Adoption of post-abortion contraception is documented as a significant contributor to reduce the num...
Evaluate the association between a combined measure of time-based pregnancy intention and preconception contraceptive behavior and suboptimal prenatal care....
Women delivering a live birth in all maternity units during one week in March 2016 were interviewed in the postpartum ward (N = 13,132). Multinomial logistic regression models were used to assess the ...
83.6% of women had timed pregnancies, 4.7% had mistimed pregnancies but discontinued contraception to conceive, 8.0% had mistimed pregnancies without discontinuing contraception to conceive and 3.7% h...
Using routinely collected information on preconception contraception allows a more nuanced assessment of pregnancy intentions that can help caregivers identify women at greater risk of substandard pre...
Women seeking family planning services from public-sector facilities in low- and middle-income countries sometimes face provider-imposed barriers to care. Social accountability is an approach that cou...
We implemented and evaluated the CSC in a convenience sample of three public-sector facility-community dyads in Kisumu County, Kenya. Within each dyad, communities met to identify and prioritize needs...
The involvement of community health volunteers and supportive community members - as well as the willingness of some providers to consider changes to their own behaviors-were key score card facilitato...
Successful and impactful implementation of the CSC in the Kenyan context requires intensive community and provider sensitization, and pandemic conditions may have muted the impact on contraceptive upt...
Adolescents and young adults (AYAs) in Haiti experience a high unintended pregnancy rate, in part due to unmet contraception needs. Little is known about AYA opinions of and experiences with contracep...
We conducted a cross-sectional survey and semi-structured qualitative interviews with a convenience sample of AYA females aged 14-24 in two rural communities in Haiti. The survey and semi-structured i...
Among 200 survey respondents, 94% reported any past vaginal sexual activity, and 43% reported ever being pregnant. A large majority were trying to avoid pregnancy (75%). At last sexual activity, 127 (...
Among AYAs in rural Haiti, a large majority were sexually active and desire pregnancy avoidance, but few were using effective contraception due to numerous concerns, including privacy and fear of judg...
Male out-migration is negatively associated with contraceptive use in developing countries. This study aimed to examine the effect of male out-migration on the contraceptive behaviour of women in the ...
The data has been collected from the Middle-Ganga Plain survey (2018-19), which was conducted by the International Institute for Population Sciences (IIPS). The overall sample size was 1314 wives left...
The result shows that female sterilization was the most common method used by both left behind wives (30.9%) and non-migrant wives (34.6%). Most of the left-behind women didn't use contraception becau...
These results strengthen the existing literature that explains how migration affects women's health. Therefore, there is an important need to develop and implement comprehensive education programs and...
Men who accompany their female partners at the time of an abortion represent a unique population who may be amenable to receiving postabortion contraceptive services. We sought to examine their intere...
We analyzed a subset of survey data on the experience of accompanying male partners at the time of an abortion at two urban family planning clinics. We examined their beliefs about shared contraceptiv...
Of 210 male partners surveyed at the time of an abortion, nearly three-quarters characterized preventing unwanted pregnancy as a shared responsibility, believed in the importance of attending contrace...
For male partners, abortion may be an opportunity to engage men in contraceptive counseling and when available, offer new male contraceptives....
As few men receive comprehensive contraceptive counseling, engaging men when they accompany their female partners to family planning clinics may be an additional strategy to prevent unwanted pregnancy...
Contraceptive use is often a multi-decade experience for people who can become pregnant, yet few studies have assessed how this ongoing process impacts contraceptive decision-making in the context of ...
We conducted in-depth interviews assessing the contraceptive journeys of 33 reproductive-aged people who had previously received no-cost contraception through a contraceptive initiative in Utah. We co...
A person's contraceptive journey occurred in four phases: identification of need, method initiation, method use, and method discontinuation. Within these phases, there were five main areas of decision...
Contraception is a unique health intervention that requires ongoing decision-making without a particular "right" answer. As such, change over time is normal, more method options are needed, and contra...
Explore contraceptive use, unmet need of and attitudes towards contraceptive use in Sweden. Secondly, to investigate knowledge of contraceptives, prevalence and outcomes of unintended pregnancies....
Internet based e-survey of Swedish women aged 16-49. The e-survey contained 49 questions with both spontaneous and multi-choice character on demographics, contraceptive use, knowledge of and attitudes...
A total of 1016 women participated, whereof 62.4% used contraception, 31.8% did not and 5.8% had stopped in the last 12 months. Unmet need for contraception was estimated at 17.2%. At least one uninte...
Use of contraception in Swedish women remains low, 62.4%, and the unmet need for contraception has increased to 17.2%. Method effectiveness and health benefits of hormonal contraception should be emph...