Titre : Carnitine O-palmitoyltransferase

Carnitine O-palmitoyltransferase : Questions médicales fréquentes

Termes MeSH sélectionnés :

Cognitive Dysfunction
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Questions et réponses", "headline": "Questions et réponses médicales fréquentes sur Carnitine O-palmitoyltransferase", "description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.", "datePublished": "2025-05-13", "inLanguage": "fr", "hasPart": [ { "@type": "MedicalWebPage", "name": "Diagnostic", "headline": "Diagnostic sur Carnitine O-palmitoyltransferase", "description": "Comment diagnostiquer une déficience en carnitine O-palmitoyltransférase ?\nQuels tests sont utilisés pour évaluer l'activité de l'enzyme ?\nQuels symptômes peuvent indiquer un problème avec cette enzyme ?\nLes tests de dépistage néonatal incluent-ils cette enzyme ?\nQuelle imagerie peut aider au diagnostic ?", "url": "https://questionsmedicales.fr/mesh/D002334?mesh_terms=Cognitive+Dysfunction&page=3#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Carnitine O-palmitoyltransferase", "description": "Quels sont les symptômes courants d'une déficience en carnitine O-palmitoyltransférase ?\nLa déficience peut-elle causer des problèmes cardiaques ?\nLes symptômes varient-ils selon l'âge ?\nY a-t-il des signes d'alerte à surveiller ?\nLes symptômes peuvent-ils apparaître après un effort physique ?", "url": "https://questionsmedicales.fr/mesh/D002334?mesh_terms=Cognitive+Dysfunction&page=3#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Carnitine O-palmitoyltransferase", "description": "Peut-on prévenir la déficience en carnitine O-palmitoyltransférase ?\nLes femmes enceintes doivent-elles être testées ?\nY a-t-il des conseils diététiques pour les familles à risque ?\nLes vaccinations sont-elles importantes pour ces patients ?\nComment surveiller les symptômes chez les enfants ?", "url": "https://questionsmedicales.fr/mesh/D002334?mesh_terms=Cognitive+Dysfunction&page=3#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Carnitine O-palmitoyltransferase", "description": "Quel est le traitement principal pour cette déficience ?\nDes modifications alimentaires sont-elles nécessaires ?\nLes médicaments peuvent-ils aider ?\nLa thérapie physique est-elle bénéfique ?\nY a-t-il des traitements expérimentaux disponibles ?", "url": "https://questionsmedicales.fr/mesh/D002334?mesh_terms=Cognitive+Dysfunction&page=3#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Carnitine O-palmitoyltransferase", "description": "Quelles complications peuvent survenir avec cette déficience ?\nLa déficience peut-elle entraîner des crises ?\nY a-t-il un risque accru de maladies métaboliques ?\nLes complications sont-elles réversibles ?\nComment prévenir les complications graves ?", "url": "https://questionsmedicales.fr/mesh/D002334?mesh_terms=Cognitive+Dysfunction&page=3#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Carnitine O-palmitoyltransferase", "description": "Quels sont les facteurs de risque pour cette déficience ?\nLes nourrissons sont-ils plus à risque ?\nLes personnes obèses sont-elles plus susceptibles d'être affectées ?\nY a-t-il des facteurs environnementaux à considérer ?\nLes maladies chroniques augmentent-elles le risque ?", "url": "https://questionsmedicales.fr/mesh/D002334?mesh_terms=Cognitive+Dysfunction&page=3#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer une déficience en carnitine O-palmitoyltransférase ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Un diagnostic se fait par des tests génétiques et des analyses sanguines pour mesurer les niveaux de carnitine." } }, { "@type": "Question", "name": "Quels tests sont utilisés pour évaluer l'activité de l'enzyme ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests enzymatiques dans des échantillons de tissus ou de sang peuvent être réalisés." } }, { "@type": "Question", "name": "Quels symptômes peuvent indiquer un problème avec cette enzyme ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Des symptômes comme la fatigue, la faiblesse musculaire et des douleurs peuvent survenir." } }, { "@type": "Question", "name": "Les tests de dépistage néonatal incluent-ils cette enzyme ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certains programmes de dépistage néonatal incluent des tests pour les troubles métaboliques." } }, { "@type": "Question", "name": "Quelle imagerie peut aider au diagnostic ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "L'IRM peut être utilisée pour évaluer les dommages musculaires associés à la déficience." } }, { "@type": "Question", "name": "Quels sont les symptômes courants d'une déficience en carnitine O-palmitoyltransférase ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent fatigue, faiblesse musculaire, hypoglycémie et douleurs musculaires." } }, { "@type": "Question", "name": "La déficience peut-elle causer des problèmes cardiaques ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des complications cardiaques peuvent survenir en raison d'une mauvaise utilisation des acides gras." } }, { "@type": "Question", "name": "Les symptômes varient-ils selon l'âge ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les symptômes peuvent être plus graves chez les nourrissons que chez les adultes." } }, { "@type": "Question", "name": "Y a-t-il des signes d'alerte à surveiller ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Des signes comme des crises, une faiblesse extrême ou des troubles respiratoires doivent alerter." } }, { "@type": "Question", "name": "Les symptômes peuvent-ils apparaître après un effort physique ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'exercice intense peut déclencher des symptômes chez les personnes atteintes." } }, { "@type": "Question", "name": "Peut-on prévenir la déficience en carnitine O-palmitoyltransférase ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "La prévention est difficile, mais un dépistage précoce peut aider à gérer la condition." } }, { "@type": "Question", "name": "Les femmes enceintes doivent-elles être testées ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le dépistage peut être recommandé si des antécédents familiaux existent." } }, { "@type": "Question", "name": "Y a-t-il des conseils diététiques pour les familles à risque ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Une consultation avec un nutritionniste peut aider à établir un régime adapté." } }, { "@type": "Question", "name": "Les vaccinations sont-elles importantes pour ces patients ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les vaccinations sont cruciales pour prévenir les infections qui peuvent aggraver la condition." } }, { "@type": "Question", "name": "Comment surveiller les symptômes chez les enfants ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Les parents doivent surveiller la fatigue, les douleurs musculaires et consulter un médecin." } }, { "@type": "Question", "name": "Quel est le traitement principal pour cette déficience ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Le traitement principal consiste en des suppléments de carnitine pour compenser le déficit." } }, { "@type": "Question", "name": "Des modifications alimentaires sont-elles nécessaires ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un régime riche en glucides et faible en graisses peut être recommandé." } }, { "@type": "Question", "name": "Les médicaments peuvent-ils aider ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Des médicaments peuvent être prescrits pour gérer les symptômes et prévenir les complications." } }, { "@type": "Question", "name": "La thérapie physique est-elle bénéfique ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la thérapie physique peut aider à améliorer la force musculaire et la fonction." } }, { "@type": "Question", "name": "Y a-t-il des traitements expérimentaux disponibles ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Des essais cliniques peuvent explorer de nouvelles thérapies, mais ils sont limités." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir avec cette déficience ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Des complications incluent des troubles musculaires, des problèmes cardiaques et des hypoglycémies." } }, { "@type": "Question", "name": "La déficience peut-elle entraîner des crises ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des crises peuvent survenir en raison d'une hypoglycémie sévère ou d'un stress métabolique." } }, { "@type": "Question", "name": "Y a-t-il un risque accru de maladies métaboliques ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les patients peuvent être à risque accru de développer d'autres maladies métaboliques." } }, { "@type": "Question", "name": "Les complications sont-elles réversibles ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes." } }, { "@type": "Question", "name": "Comment prévenir les complications graves ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Un suivi médical régulier et une gestion appropriée des symptômes sont essentiels." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque pour cette déficience ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les antécédents familiaux de troubles métaboliques augmentent le risque de déficience." } }, { "@type": "Question", "name": "Les nourrissons sont-ils plus à risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les nourrissons, surtout ceux avec des antécédents familiaux, sont plus à risque." } }, { "@type": "Question", "name": "Les personnes obèses sont-elles plus susceptibles d'être affectées ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "L'obésité peut augmenter le risque de troubles métaboliques, y compris cette déficience." } }, { "@type": "Question", "name": "Y a-t-il des facteurs environnementaux à considérer ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Des facteurs comme l'alimentation et l'exposition à des toxines peuvent influencer le risque." } }, { "@type": "Question", "name": "Les maladies chroniques augmentent-elles le risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines maladies chroniques peuvent prédisposer à des troubles métaboliques." } } ] } ] }

Sources (10000 au total)

Predictors of cognitive dysfunction in hereditary transthyretin amyloidosis with liver transplant.

Cognitive dysfunction is part of the broad spectrum of clinical manifestations in older untreated hereditary transthyretin amyloidosis patients with peripheral polyneuropathy.... The objective of this study is to systematically explore cognitive dysfunction in ATTRV30M amyloidosis patients whose disease course was modified by liver transplant (LT).... A series of 269 carriers of TTRVal30Met mutation treated with LT underwent a neuropsychological assessment. Clinical charts were reviewed to identify focal neurological episodes (FNEs), cognitive comp... Cognitive dysfunction was identified in 35 patients (13%)-14 (5%) had mild and 21 (8%) had moderate dysfunction. In comparison to normal cognition, both mild and moderate cognitive dysfunction patient... Consistent with the natural history of the disease, older age and higher severity of the disease are significantly associated and potentially predictors of cognitive dysfunction in ATTRV30M patients t...

Risk factors for cognitive dysfunction amongst patients with cardiovascular diseases.

The impact of cardiovascular diseases on cognition raises important research questions. The study aimed to investigate the relationship between demographic data, cardiovascular diseases, kidney diseas... A cross-sectional study of patients with cardiovascular diseases was performed. The Montreal Cognitive Assessment (MoCA) was applied for cognitive evaluation. Based on MoCA three groups were defined: ... Of 628 patients, 55.2% had mild CD, and the mean age was 67.95 (SD 9.53) years. Cα and Mω were 0.7, indicating good internal consistency. We found a moderate positive correlation between depression an... Mild CD was the most common in patients with cardiovascular diseases. Older age, lower education, being a non-smoker, and renal dysfunction were risk factors for both mild and advanced CD. Female gend...

Predictors of cognitive dysfunction one-year post COVID-19.

(a) To characterize the frequency of objective cognitive deficits and self-perceived cognitive difficulties and (b) to explore demographic and clinical predictors of cognitive dysfunction and cognitiv... One hundred and ten adults diagnosed with COVID-19 between March and November 2020, aged ≤ 74 years underwent a brief neuropsychological evaluation 12 months after infection, which included: Brief Vis... Twenty participants (18.2%) had cognitive dysfunction and 36 (33.3%) had cognitive complaints. Cognitive dysfunction was related to lower education, preinfection history of headache/migraine, and acut... A subset of individuals develops cognitive difficulties in the context of post-COVID syndrome. Results may support the protective effect of education, a known proxy of cognitive reserve. COVID-19 infe...

Cognitive Dysfunction Biomarkers in Patients With Rheumatoid Arthritis: A Systematic Review.

During the last years, a growing number of studies have investigated the link between cognitive dysfunction and rheumatoid arthritis (RA), highlighting the potential pathogenic role of several clinica... We performed a systematic review using PRISMA (Preferred Reported Items for Systematic Reviews and Meta-analysis) protocol. A systematic search was conducted in the PubMed/MEDLINE, EMBASE, LILACS, Sco... Five original studies were included, which provided data from 428 participants. Among plasma proteins, SHH was increased and TTR was reduced in patients with mild cognitive impairment; anti-myelin bas... Despite the relative scarcity of studies on this subject and the heterogeneity of results, we identified possible biomarkers for cognitive deficits in the RA population. Further longitudinal studies a...

Endothelial Dysfunction and Pre-Existing Cognitive Disorders in Stroke Patients.

The origin of pre-existing cognitive impairment in stroke patients remains controversial, with a vascular or a degenerative hypothesis.... To determine whether endothelial dysfunction is associated with pre-existing cognitive problems, lesion load and biological anomalies in stroke patients.... Patients originated from the prospective STROKDEM study. The baseline cognitive state, assessed using the IQ-CODE, and risk factors for stroke were recorded at inclusion. Patients with an IQ-CODE scor... A total of 86 patients were included (52 males; mean age 63.5 ± 11.5 years). Patients with abnormal RHI have hypertension or antihypertensive treatment more often. The baseline IQ-CODE was abnormal in... A vascular mechanism may be responsible for cognitive problems pre-existing stroke. The measurement of endothelial dysfunction after stroke could become an important element of follow-up, providing an...

Cognitive Dysfunction in Heart Failure: Pathophysiology and Implications for Patient Management.

There is increasing recognition of the prevalence and impact of cognitive dysfunction (CD) in heart failure (HF) patients. This contemporary review appraises the evidence for epidemiological associati... CD disproportionately affects heart failure patients, even accounting for known comorbid risk factors, and this may extend to subclinical left ventricular dysfunction. Neuroimaging studies now provide...

Frequency and risk factors for cognitive dysfunction in peritoneal dialysis patients.

There is limited data on cognition in patients undergoing peritoneal dialysis (PD). We assessed prevalence and associated risk factors of neurocognitive impairment (NCI) in PD patients.... A cross-sectional cohort study of 149 PD patients at a single centre between 2016 and 2020 who underwent neurocognitive screening at defined intervals by Addenbrooke's Cognitive Examination - Revised ... Patients on PD performed poorly in ACE-R screening compared to population norms, with discrepancy in all cognitive domains. In patients without CVD, attention and language domains were comparable to n... Patients on PD have higher prevalence of NCI than the general population, primarily with impairments in memory, fluency and visuospatial reasoning. CVD confers poorer performance in attention and lang...