Comment diagnostiquer une déficience en N-terminal acetyltransferases ?

Des tests génétiques et des analyses protéomiques peuvent identifier des anomalies.

Quels tests sont utilisés pour évaluer l'activité des N-terminal acetyltransferases ?

Des tests enzymatiques mesurant l'acétylation des substrats spécifiques sont utilisés.

Les biopsies sont-elles nécessaires pour le diagnostic ?

Pas toujours, mais elles peuvent être utiles pour des analyses plus approfondies.

Quels marqueurs biologiques indiquent une activité anormale ?

Des niveaux anormaux de protéines acétylées peuvent indiquer une dysfonction enzymatique.

Peut-on utiliser l'imagerie pour le diagnostic ?

L'imagerie n'est pas couramment utilisée pour diagnostiquer des troubles enzymatiques.

Quels symptômes sont associés à une déficience en N-terminal acetyltransferases ?

Les symptômes peuvent inclure des troubles neurologiques et des anomalies métaboliques.

Les symptômes varient-ils selon le type d'enzyme affectée ?

Oui, chaque enzyme a des substrats spécifiques, entraînant des symptômes variés.

Y a-t-il des symptômes cutanés associés ?

Certaines déficiences peuvent provoquer des éruptions cutanées ou des anomalies dermatologiques.

Les troubles cognitifs sont-ils liés à ces enzymes ?

Oui, des troubles cognitifs peuvent survenir en raison de l'impact sur le métabolisme neuronal.

Les symptômes apparaissent-ils dès la naissance ?

Pas toujours, certains symptômes peuvent se développer plus tard dans l'enfance ou l'adolescence.

Peut-on prévenir les déficiences en N-terminal acetyltransferases ?

La prévention est difficile, mais un diagnostic précoce peut aider à gérer les symptômes.

Les conseils génétiques sont-ils recommandés ?

Oui, les conseils génétiques peuvent être utiles pour les familles à risque.

L'alimentation peut-elle jouer un rôle préventif ?

Une alimentation équilibrée peut soutenir la santé métabolique, mais ne prévient pas directement.

Des dépistages réguliers sont-ils conseillés ?

Des dépistages peuvent être recommandés pour les individus à risque ou avec des antécédents familiaux.

Les vaccinations peuvent-elles aider ?

Les vaccinations ne préviennent pas les déficiences enzymatiques, mais protègent contre d'autres maladies.

Quels traitements sont disponibles pour les déficiences en N-terminal acetyltransferases ?

Les traitements peuvent inclure des thérapies enzymatiques et des approches diététiques.

Les suppléments nutritionnels peuvent-ils aider ?

Oui, certains suppléments peuvent soutenir le métabolisme et compenser les déficiences.

La thérapie génique est-elle une option ?

La thérapie génique est en recherche, mais elle pourrait offrir des solutions futures.

Les médicaments peuvent-ils améliorer la fonction enzymatique ?

Certains médicaments expérimentaux visent à améliorer l'activité des enzymes déficientes.

Y a-t-il des traitements symptomatiques disponibles ?

Oui, des traitements symptomatiques peuvent aider à gérer les manifestations cliniques.

Quelles complications peuvent survenir avec ces déficiences ?

Des complications neurologiques, métaboliques et immunitaires peuvent se développer.

Les complications sont-elles réversibles ?

Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes.

Y a-t-il un risque accru de maladies associées ?

Oui, les déficiences peuvent augmenter le risque de maladies métaboliques et neurologiques.

Les complications affectent-elles la qualité de vie ?

Oui, les complications peuvent significativement impacter la qualité de vie des patients.

Des soins palliatifs sont-ils nécessaires ?

Dans les cas graves, des soins palliatifs peuvent être nécessaires pour améliorer le confort.

Quels sont les facteurs de risque pour ces déficiences ?

Les antécédents familiaux et certaines mutations génétiques sont des facteurs de risque clés.

L'âge joue-t-il un rôle dans le risque ?

Oui, certains troubles se manifestent plus fréquemment chez les jeunes enfants.

Les facteurs environnementaux influencent-ils le risque ?

Des facteurs environnementaux peuvent interagir avec des prédispositions génétiques.

Les maladies auto-immunes sont-elles un facteur de risque ?

Certaines maladies auto-immunes peuvent augmenter le risque de dysfonction enzymatique.

Le sexe a-t-il un impact sur le risque ?

Des études montrent que certains troubles peuvent affecter différemment les sexes.

N-terminal acetyltransferases - Informations médicales vérifiées

Effects of disability on income and income composition.

2023

DOI: 10.1371/journal.pone.0286462 PMID: 37256904

Income composition is highly associated with individual financial sustainability and income inequality at the macro level. Although studies have investigated the effects of disability on wage income, ... We sampled 72,000 households using tax data sourced from the Taiwan Ministry of Finance in 2015. Data for each household member were traced back to 1999. We identified 23,346 individuals with disabili... Wage income constitutes the largest proportion of income in Taiwan. The total income is estimated to increase by 10.4% (P < 0.001) after disability onset. Moreover, most income categories did not expe... The effect of disability on income varied across different sources of income. The income composition observed for the individuals with disabilities changed considerably at various ages. Accordingly, p...

Humans Income Disabled Persons Family Characteristics Taiwan

Preterm Birth, Family Income, and Intergenerational Income Mobility.

03 Jun 2024

DOI: 10.1001/jamanetworkopen.2024.15921 PMID: 38857046

Preterm birth (PTB) has been associated with lower income in adulthood, but associations with intergenerational income mobility and the role of family socioeconomic status (SES) as modifying factor ar... To assess whether the association between PTB and income differs according to family SES at birth and to assess the association between PTB and intergenerational income mobility.... This study comprised a matched cohort of live births in Canada between January 1, 1990, and December 31, 1996, with follow-up until December 31, 2018. Statistical analysis was performed between May 20... Preterm birth, defined as birth between 24 and 37 weeks' gestational age (with gestational age subcategories of 34-36, 32-33, 28-31, and 24-27 weeks) vs early and full term births (gestational age, 37... Associations between PTB and annual adulthood income in 2018 Canadian dollars were assessed overall (current exhange rate: $1 = CAD $1.37) and stratified by family income quintiles, using generalized ... Of 1.6 million included births (51.1% boys and 48.9% girls), 6.9% infants were born preterm (5.4% born at 34-36 weeks, 0.7% born at 32-33 weeks, 0.5% born at 28-31 weeks, and 0.2% born at 24-27 weeks)... In this population-based matched cohort study, PTB was associated with lower adulthood income, lower upward social mobility, and higher downward mobility, with greater differences among those belongin...

Humans Premature Birth Income Female Canada +8 autres

Aversion to health inequality - Pure, income-related and income-caused.

Mar 2024

DOI: 10.1016/j.jhealeco.2024.102856 PMID: 38266377

We design a novel experiment to identify aversion to pure (univariate) health inequality separately from aversion to income-related and income-caused health inequality. Participants allocate resources...

Adult Humans Health Status Disparities Income Poverty +2 autres

Burden of respiratory problems in low-income and middle-income countries.

01 12 2022

DOI: 10.1097/SPC.0000000000000615 PMID: 36102933

Chronic respiratory diseases are a leading cause of morbidity and mortality in low-income and middle-income countries (LMICs). We aim to review prevalence of respiratory diseases and related symptoms,... We report findings from 16 studies, highlighting key issues relevant to burden of respiratory problems in LMICs. COPD and associated symptoms are identified as important drivers of increasing respirat... Prevention and treatment of respiratory diseases is essential for improved wellbeing. We identify missed opportunities for measurement and understanding of burden caused by respiratory problems within...

Adult Humans Developing Countries Quality of Life Income +2 autres

Health Outcomes, Income and Income Inequality: Revisiting the Empirical Relationship.

01 12 2021

DOI: 10.1515/fhep-2021-0042 PMID: 36259395

In this paper we revisit the relationship between health outcomes, income, and income inequality by applying alternative panel methodologies to a dataset of high-income countries spanning the time per...

Life Expectancy Cross-Sectional Studies Income Outcome Assessment, Health Care

Estimating the causal effects of income on health: how researchers' definitions of "income" matter.

11 Jun 2024

DOI: 10.1186/s12889-024-19049-w PMID: 38862961

There is a well-established cross-sectional association between income and health, but estimates of the causal effects of income vary substantially. Different definitions of income may lead to substan... The aim of this paper is to introduce a taxonomy for definitional and conceptual issues in studying individual- or household-level income for health research. We focus on (1) the definition of the inc... Quantified estimates of causal effects of income on health and wellbeing have crucial relevance for policymakers to anticipate the consequences of policies targeting the social determinants of health....

Humans Income Causality Health Status Social Determinants of Health +1 autres

Professions, honesty, and income.

10 2022

DOI: 10.1016/j.copsyc.2022.101403 PMID: 35872470

Professional choices influence valued outcomes such as income, life satisfaction, and social status. However, public opinion polls consistently illustrate that an individual's profession also influenc...

Humans Income Self Concept Surveys and Questionnaires

Size or Content of the Pie? Source of Income and Perceived Income Adequacy of Older Europeans.

02 Jan 2023

DOI: 10.1080/08959420.2022.2121581 PMID: 36120990

While public pensions are usually the main source of income in old age, other sources of income may have various consequences for pensioners' economic well-being across households and countries. In th...

Humans European People Income Pensions Poverty +2 autres

Integrating eye care in low-income and middle-income settings: a scoping review.

26 05 2023

DOI: 10.1136/bmjopen-2022-068348 PMID: 37236663

Integrated people-centred eye care has been recommended as a strategic framework for reducing global vision impairment and blindness. The extent to which eye care has integrated with other services ha... Rapid scoping review based on Cochrane Rapid Review and Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines.... MEDLINE, Embase, Web of Science, Scopus and Cochrane Library databases were searched in September 2021.... Papers with interventions involving eye care or preventative eye care integrated into other health systems, peer-reviewed in English, conducted in low-income or middle-income countries, and published ... Two independent reviewers screened, quality appraised and coded included papers. A deductive-inductive iterative analysis approach was used with a focus on integrating service delivery.... The search identified 3889 potential papers, of which 24 were included. Twenty papers incorporated more than one intervention type (promotion, prevention and/or treatment), but none included rehabilit... Integrating eye care into low resource health systems is a challenging task, compounded by resource limitations, competing priorities and ongoing support needs. This review highlighted a need for peop...

Humans Delivery of Health Care Income

Describing and assessing a new method of approximating categorical individual-level income using community-level income from the census (weighting by income probabilities).

12 2022

DOI: 10.1111/1475-6773.14026 PMID: 35832029

To assess a new approach (weighting by "income probabilities [IP]") that uses US Census data from the patients' communities to approximate individual-level income, an important but often missing varia... Community (census tract level) income data came from the 2017 5-year American Community Survey (ACS). The patient data included those diagnosed with cancer in 2017 in Ohio (n = 65,759). The reference ... We applied the traditional approach of income approximation using median census tract income along with two IP based approaches to estimate the proportions in the patient data with incomes of 0%-149%,... The patient data came from Ohio's cancer registry. The other data were publicly available.... Both IP based approaches consistently outperformed the traditional approach overall and in subgroup analyses, as measured by the weighted average absolute percentage point differences between the prop... Weighting by IP substantially outperformed the conventional approach of estimating the distribution of incomes in patient data....

Female Humans Censuses Income Poverty +2 autres

N-terminal acetyltransferases : Questions médicales fréquentes

Termes MeSH sélectionnés :

Questions fréquentes et termes MeSH associés

Diagnostic 5

Symptômes 5

Prévention 5

Traitements 5

Complications 5

Facteurs de risque 5

Contenu validé par Dr Olivier Menir

Sous-catégories

N-terminal acetyltransferase A

N-terminal acetyltransferase B

N-terminal acetyltransferase C

N-terminal acetyltransferase D

N-terminal acetyltransferase E

N-terminal acetyltransferase F

Auteurs principaux

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