Comment diagnostique-t-on une erreur métabolique lipidique ?

Le diagnostic repose sur des tests sanguins, des analyses génétiques et des biopsies.

Quels tests sont utilisés pour le diagnostic ?

Des tests de dépistage néonatal, des dosages enzymatiques et des analyses d'urine sont courants.

Les symptômes aident-ils au diagnostic ?

Oui, les symptômes cliniques orientent le diagnostic et peuvent indiquer le type d'erreur.

Quelle est l'importance de l'histoire familiale ?

L'histoire familiale aide à identifier les risques génétiques et à orienter les tests.

Peut-on utiliser l'imagerie pour le diagnostic ?

L'imagerie peut aider à évaluer les organes affectés, mais n'est pas spécifique.

Quels sont les symptômes courants ?

Les symptômes incluent fatigue, douleurs abdominales, troubles neurologiques et retard de croissance.

Les symptômes varient-ils selon le type d'erreur ?

Oui, chaque type d'erreur lipidique présente des symptômes spécifiques et variés.

Y a-t-il des signes cutanés associés ?

Certaines erreurs peuvent provoquer des dépôts lipidiques visibles sur la peau.

Les symptômes apparaissent-ils à la naissance ?

Certains symptômes peuvent apparaître dès la naissance, d'autres se développent plus tard.

Les troubles mentaux sont-ils possibles ?

Oui, des troubles cognitifs et comportementaux peuvent survenir dans certaines erreurs.

Peut-on prévenir ces erreurs ?

La prévention est limitée, mais le dépistage néonatal peut aider à identifier les cas précoces.

Le conseil génétique est-il utile ?

Oui, le conseil génétique aide les familles à comprendre les risques et les options de dépistage.

Les vaccinations sont-elles importantes ?

Les vaccinations ne préviennent pas les erreurs métaboliques, mais protègent contre d'autres maladies.

Les tests prénataux sont-ils recommandés ?

Des tests prénataux peuvent être proposés pour détecter certaines erreurs génétiques.

L'éducation des parents est-elle cruciale ?

Oui, informer les parents sur les signes et symptômes peut aider à une détection précoce.

Quels traitements sont disponibles ?

Les traitements incluent des régimes alimentaires spécifiques, des suppléments et des médicaments.

La diététique joue-t-elle un rôle ?

Oui, un régime adapté est crucial pour gérer les niveaux de lipides et prévenir les complications.

Des médicaments sont-ils utilisés ?

Des médicaments peuvent être prescrits pour réduire les niveaux de lipides ou traiter les symptômes.

La thérapie génique est-elle une option ?

La thérapie génique est en recherche pour certaines erreurs, mais n'est pas encore courante.

Les greffes d'organes sont-elles nécessaires ?

Dans certains cas graves, des greffes peuvent être envisagées pour traiter des dommages organiques.

Quelles complications peuvent survenir ?

Les complications incluent des maladies hépatiques, des troubles neurologiques et des problèmes cardiaques.

Les erreurs lipidique peuvent-elles être mortelles ?

Certaines erreurs peuvent entraîner des complications graves pouvant être fatales sans traitement.

Y a-t-il des risques de cancer ?

Certaines erreurs peuvent augmenter le risque de développer certains types de cancer.

Les troubles psychologiques sont-ils fréquents ?

Oui, des troubles psychologiques peuvent survenir en raison de l'impact des symptômes.

Les complications sont-elles réversibles ?

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

Quels sont les facteurs de risque génétiques ?

Les antécédents familiaux d'erreurs métaboliques augmentent le risque de transmission.

L'origine ethnique influence-t-elle le risque ?

Oui, certaines erreurs sont plus fréquentes dans des populations spécifiques en raison de la génétique.

L'alimentation joue-t-elle un rôle ?

Une alimentation déséquilibrée peut exacerber les symptômes chez les individus prédisposés.

Les infections peuvent-elles aggraver la condition ?

Certaines infections peuvent déclencher ou aggraver les symptômes des erreurs métaboliques.

Le sexe influence-t-il le risque ?

Certaines erreurs métaboliques peuvent avoir une prévalence différente selon le sexe.

Erreurs innées du métabolisme lipidique - Informations médicales vérifiées

Systematic Review of Self-Report Measures of Maternal Self-Efficacy.

09 2022

DOI: 10.1016/j.jogn.2022.05.003 PMID: 35724766

To synthesize the literature to identify self-report measures used to assess maternal self-efficacy (MSE) among mothers of infants 0 to 1 year of age.... OVID (MEDLINE), CINAHL, PsycINFO, Scopus, Google Scholar.... We searched for research articles that included self-report measurement of MSE and were published from January 2000 to September 2021. We selected this time frame to focus on a contemporary context an... We extracted measures of MSE with descriptive details, including level of self-efficacy assessed (e.g., global, domain-specific, task-specific), concept(s) assessed, reliability, eligible age ranges, ... In many studies of MSE, researchers used measures not specifically designed for self-efficacy and instead used measures for closely related concepts such as confidence or competence. We identified onl... We identified four instruments to measure MSE in mothers of infants, and each has strengths and weaknesses. Future researchers should focus on clear conceptual and operational alignment between MSE an...

Female Humans Infant Mothers Reproducibility of Results +2 autres

An evaluation of the self-report instruments assessing self-control: A systematic review.

Apr 2023

DOI: 10.1111/sjop.12881 PMID: 36303428

Self-control is regarded as a necessary trait in almost every aspect of human life. Numerous self-control scales have been developed and utilized in various fields, but their psychometric characterist...

Humans Self Report Psychometrics

Associations among claims-based care fragmentation, self-reported gaps in care coordination, and self-reported adverse events.

10 Sep 2024

DOI: 10.1186/s12913-024-11440-y PMID: 39256705

Fragmentation of care (that is, the use of multiple ambulatory providers without a dominant provider) may increase the risk of gaps in communication among providers. However, it is unclear whether peo... We conducted a longitudinal study using data from the Reasons for Geographic and Racial Differences in Stroke (REGARDS) study, including a survey on perceptions of healthcare (2017-2018) and linked fe... The correlation coefficient between claims-based and self-report was 0.37 for the number of visits and 0.38 for the number of providers (p < 0.0001 for each). Individuals with high fragmentation by cl... Medicare beneficiaries with claims-based fragmentation also report gaps in communication among their providers. Moreover, these gaps appear to be clinically significant, with beneficiaries reporting a...

Humans United States Longitudinal Studies Male Female +8 autres

Inspire self report scale (ISRS): A feasibility study of a Novel self report scale for people with schizophrenia spectrum disorders.

09 2023

DOI: 10.1016/j.jpsychires.2023.05.047 PMID: 37531843

Clinician-rated symptom scales are the current standard for outcome measures in Schizophrenia Spectrum Disorders (SSD) research. There has been growing interest in the development of self-report measu...

Humans Schizophrenia Self Report Feasibility Studies Psychotic Disorders +2 autres

A comparison between self-reported hand eczema and self-reported signs and symptoms of skin lesions indicating hand eczema.

Dec 2022

DOI: 10.1111/cod.14183 PMID: 35808939

The accuracy of self-reported hand eczema (HE) is currently unclear, and it is unknown how well self-reported signs and symptoms of skin lesions that indicate HE correlate with self-reported HE.... To correlate self-reported signs and symptoms of skin lesions on the hands with self-reported HE, to assess the sensitivity and specificity, and to suggest a definition for HE.... Seven hundred ninety-five (47.8%) of 1663 invited healthcare workers completed a digital questionnaire, and were asked to report if they experienced HE or any of the following skin signs/symptoms in p... HE during the past 11 months was reported by 11.9%. Of these, 91.4% reported at least one skin sign versus 32.3% of those without self-reported HE. The highest sensitivity and specificity were found f... The marked difference between self-reported HE and signs/symptoms highlights the importance of differentiating between data based on self-reported HE and signs/symptoms. As a first step towards diagno...

Humans Self Report Dermatitis, Allergic Contact Eczema Pruritus +2 autres

Self-reported dizziness, falls, and self-rated health in a rural population in Denmark.

Dec 2023

DOI: 10.1007/s00405-023-08061-2 PMID: 37420013

To investigate associations between dizziness, hearing loss, medication, and self-perceived health in the region of Lolland-Falster in Denmark.... A cross-sectional population-based study using data from questionnaires and physical examinations between February 8th, 2016, and February 13th, 2020. Individuals aged 50 years or above in the region ... Of 10,092 individuals (52% female), the mean age was 64.7 and 65.7 years for females and males, respectively. 20% reported dizziness during the past 30 days, and prevalence increased with age. 24% of ... One of five participants reported dizziness during the last month. Dizziness was negatively associated with self-perception of good health also after adjusting for comorbidities. Almost half of the di... http://www.... gov (NCT02482896)....

Aged Female Humans Male Middle Aged +7 autres

Validity of self-reported migraine in adolescents and children.

05 2023

DOI: 10.1111/head.14498 PMID: 37140013

To assess agreement for migraine day between self-report and diagnostic guidelines for children and adolescents using a headache diary.... Trial guidelines recommend prospective collection of headache features and adoption of migraine day as an outcome measure, but there is no clear consensus on the definition of migraine day.... This is a secondary analysis of data from two projects-a prospective cohort study validating a pediatric scale of treatment expectancy and a clinical trial of occipital nerve blocks to treat status mi... Of 122 enrolled children and adolescents, 106 (86.9%) completed ≥1 detailed headache assessment (438 entries). We found moderate agreement between self-reported and ICHD-derived migraine day, with a C... We found only moderate agreement between self-reported and ICHD-derived migraine day, suggesting both measures are not equal but may represent overlapping aspects of migraine as a disease. This highli...

Humans Child Adolescent Self Report Prospective Studies +3 autres

The psychological drivers of self-reported risk preference.

Oct 2023

DOI: 10.1037/xlm0001266 PMID: 37439732

Why are some people more willing than others to take risks? While behavioral tasks (e.g., monetary lotteries) are often regarded as a gold standard for capturing a person's risk preference, recent stu...

Humans Self Report Reproducibility of Results Risk-Taking Intuition +1 autres

Self-reported experiences of discrimination and incident dementia.

07 2023

DOI: 10.1002/alz.12947 PMID: 36724324

Discrimination negatively impacts health and may contribute to racial/ethnic disparities in dementia risk.... Experiences of lifetime and everyday discrimination were assessed among 6509 Multi-Ethnic Study of Atherosclerosis (MESA) participants. We assessed the association of discrimination with incidence of ... Prevalence of any lifetime discrimination in MESA was 42%, highest among Black adults (72%). Over a median 15.7 years of follow-up, there were 466 incident cases of dementia. Lifetime discrimination, ... These findings demonstrate an association of greater experiences of lifetime discrimination with incident dementia....

Adult Humans Black People Dementia Ethnicity +3 autres

The self-regulation skills instrument in transplantation (SSIt): Development and measurement properties of a self-report self-management instrument.

10 2023

DOI: 10.1016/j.pec.2023.107924 PMID: 37516027

To develop a self-management instrument for organ transplant recipients that incorporates self-regulations skills and to determine its measurement properties.... The instrument includes concepts from social cognitive models: problem awareness, attitude, self-efficacy, motivation, social support, goal setting, goal pursuit, skills and goal affect. The measureme... After face and content validity assessment 47 items were entered into the exploratory factor analysis. The analysis showed two meaningful factors, with internal consistency of 0.90 and 0.89. Spearman ... The Self-regulation skills instrument in transplantation (SSIt) is a valid and reliable instrument to asses necessary skills for self-management after transplantation and may be useful for other patie... Insight into self-regulation competencies can help healthcare professionals to tailor self-management support....

Humans Self Report Self-Management Reproducibility of Results Surveys and Questionnaires +2 autres

Erreurs innées du métabolisme lipidique : 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

Syndrome de Barth

Hyperlipidémie familiale mixte

Hyperlipoprotéinémie de type I

Hyperlipoprotéinémie de type II

Hyperlipoprotéinémie de type III

Hyperlipoprotéinémie de type IV

Hyperlipoprotéinémie de type V

Hypolipoprotéinémies

Lipidoses

Xanthomatose cérébrotendineuse

Hypercholestérolémie familiale homozygote

Hypoalphalipoprotéinémies

Hypobêtalipoprotéinémies

Céroïdes-lipofuscinoses neuronales

Syndrome de Sjögren-Larsson

Déficit en lécithine-cholestérol-acyl-transférase

Maladie de Tangier

Abêtalipoprotéinémie

Auteurs principaux

Sources (10000 au total)