Titre : N-terminal acetyltransferase E

N-terminal acetyltransferase E : Questions médicales fréquentes

Termes MeSH sélectionnés :

Visual Fields
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sont-ils réversibles ?\nComment les symptômes évoluent-ils avec le temps ?", "url": "https://questionsmedicales.fr/mesh/D063213?mesh_terms=Visual+Fields&page=2#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur N-terminal acetyltransferase E", "description": "Peut-on prévenir les troubles liés à cette enzyme ?\nY a-t-il des conseils diététiques pour les patients ?\nLes tests génétiques peuvent-ils aider à la prévention ?\nLes vaccinations sont-elles importantes pour ces patients ?\nComment le suivi médical aide-t-il à la prévention ?", "url": "https://questionsmedicales.fr/mesh/D063213?mesh_terms=Visual+Fields&page=2#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur N-terminal acetyltransferase E", "description": "Quels traitements sont disponibles pour cette condition ?\nY a-t-il des médicaments spécifiques pour cette enzyme ?\nLa thérapie génique est-elle une option ?\nComment la physiothérapie peut-elle aider ?\nLes traitements sont-ils personnalisés ?", "url": "https://questionsmedicales.fr/mesh/D063213?mesh_terms=Visual+Fields&page=2#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur N-terminal acetyltransferase E", "description": "Quelles complications peuvent survenir avec cette condition ?\nLes complications sont-elles évitables ?\nComment les complications affectent-elles la qualité de vie ?\nY a-t-il des risques de complications à long terme ?\nLes complications peuvent-elles être gérées ?", "url": "https://questionsmedicales.fr/mesh/D063213?mesh_terms=Visual+Fields&page=2#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur N-terminal acetyltransferase E", "description": "Quels sont les facteurs de risque associés à cette enzyme ?\nL'environnement joue-t-il un rôle dans cette condition ?\nLes facteurs de risque sont-ils modifiables ?\nY a-t-il des groupes à risque plus élevé ?\nLes tests de dépistage sont-ils recommandés pour les familles à risque ?", "url": "https://questionsmedicales.fr/mesh/D063213?mesh_terms=Visual+Fields&page=2#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer une déficience en N-terminal acetyltransferase E ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic repose sur des tests génétiques et des analyses enzymatiques." } }, { "@type": "Question", "name": "Quels tests sont utilisés pour évaluer l'activité de cette enzyme ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests biochimiques mesurant l'acétylation des protéines sont utilisés." } }, { "@type": "Question", "name": "Y a-t-il des biomarqueurs associés à cette enzyme ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, il n'existe pas de biomarqueurs spécifiques largement reconnus." } }, { "@type": "Question", "name": "Quels symptômes peuvent indiquer un problème avec cette enzyme ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Des troubles métaboliques ou neurologiques peuvent suggérer une anomalie." } }, { "@type": "Question", "name": "Peut-on détecter des mutations génétiques liées à cette enzyme ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des mutations dans le gène codant pour l'enzyme peuvent être identifiées." } }, { "@type": "Question", "name": "Quels sont les symptômes d'une déficience en N-terminal acetyltransferase E ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes peuvent inclure des troubles neurologiques et des anomalies de croissance." } }, { "@type": "Question", "name": "Les symptômes varient-ils selon l'âge ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les symptômes peuvent se manifester différemment selon l'âge du patient." } }, { "@type": "Question", "name": "Y a-t-il des symptômes spécifiques à surveiller ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Des retards de développement et des troubles cognitifs sont à surveiller." } }, { "@type": "Question", "name": "Les symptômes sont-ils réversibles ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Certains symptômes peuvent être gérés, mais d'autres peuvent être permanents." } }, { "@type": "Question", "name": "Comment les symptômes évoluent-ils avec le temps ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes peuvent s'aggraver avec le temps sans intervention appropriée." } }, { "@type": "Question", "name": "Peut-on prévenir les troubles liés à cette enzyme ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "La prévention est difficile, mais un diagnostic précoce peut aider à gérer les symptômes." } }, { "@type": "Question", "name": "Y a-t-il des conseils diététiques pour les patients ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Une alimentation équilibrée et riche en nutriments est recommandée." } }, { "@type": "Question", "name": "Les tests génétiques peuvent-ils aider à la prévention ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les tests génétiques peuvent identifier les porteurs et les risques." } }, { "@type": "Question", "name": "Les vaccinations sont-elles importantes pour ces patients ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Les vaccinations sont importantes pour prévenir les infections, surtout chez les enfants." } }, { "@type": "Question", "name": "Comment le suivi médical aide-t-il à la prévention ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Un suivi régulier permet d'identifier et de traiter rapidement les complications." } }, { "@type": "Question", "name": "Quels traitements sont disponibles pour cette condition ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements incluent la thérapie symptomatique et le soutien nutritionnel." } }, { "@type": "Question", "name": "Y a-t-il des médicaments spécifiques pour cette enzyme ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, il n'existe pas de médicaments spécifiques ciblant cette enzyme." } }, { "@type": "Question", "name": "La thérapie génique est-elle une option ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "La thérapie génique est en recherche, mais pas encore disponible cliniquement." } }, { "@type": "Question", "name": "Comment la physiothérapie peut-elle aider ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "La physiothérapie peut améliorer la mobilité et la fonction physique des patients." } }, { "@type": "Question", "name": "Les traitements sont-ils personnalisés ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les traitements peuvent être adaptés en fonction des symptômes et des besoins." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir avec cette condition ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des troubles neurologiques graves et des retards de développement." } }, { "@type": "Question", "name": "Les complications sont-elles évitables ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Certaines complications peuvent être évitées avec un traitement précoce et approprié." } }, { "@type": "Question", "name": "Comment les complications affectent-elles la qualité de vie ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Les complications peuvent significativement réduire la qualité de vie des patients." } }, { "@type": "Question", "name": "Y a-t-il des risques de complications à long terme ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des risques de complications à long terme existent sans intervention adéquate." } }, { "@type": "Question", "name": "Les complications peuvent-elles être gérées ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, de nombreuses complications peuvent être gérées avec un suivi médical approprié." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque associés à cette enzyme ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs de risque incluent des antécédents familiaux et des mutations génétiques." } }, { "@type": "Question", "name": "L'environnement joue-t-il un rôle dans cette condition ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Des facteurs environnementaux peuvent influencer l'expression des gènes liés à l'enzyme." } }, { "@type": "Question", "name": "Les facteurs de risque sont-ils modifiables ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Certains facteurs, comme le mode de vie, peuvent être modifiés pour réduire les risques." } }, { "@type": "Question", "name": "Y a-t-il des groupes à risque plus élevé ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les individus avec des antécédents familiaux de troubles métaboliques sont à risque." } }, { "@type": "Question", "name": "Les tests de dépistage sont-ils recommandés pour les familles à risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le dépistage génétique est recommandé pour les familles avec des antécédents." } } ] } ] }

Sources (10000 au total)

Humphrey visual field made easy for residents.

Visual field testing is an indispensable part of the assessment of glaucoma. Of paramount importance to both the practitioner and the perimetrist is the guidance on how to conduct the test to get the ... To simplify the basics of understanding single-field analysis of visual field tests by using the Humphrey perimeter.... The general principle and a brief overview of how the Humphrey visual field is conducted and the approach to interpreting the results of single field analysis in an easy-to-understand manner are prese... This educational video is an attempt to simplify the interpretation of Humphrey visual field single-field analysis with illustrations and video clips that would be useful to practicing ophthalmologist... https://youtu.be/x8iZLDR4XdY....

Foveal avascular zone vessel density is associated with visual field progression in early-stage glaucoma eyes with central visual field damage.

We investigated the relationship between foveal avascular zone (FAZ)-related parameters, assessed by optical coherence tomography angiography (OCT-A), and visual field (VF) progression in early-stage ...

Visual feedback in the lower visual field affects postural control during static standing.

The dorsal parietal visual system plays an important role in self-motion perception and spatial cognition. It also strongly responds to visual inputs from the lower visual field. Postural control is m... Do visual stimuli presented to the lower and upper visual fields affect postural control and sensory reweighting?... Twenty-nine healthy young adults participated in the study. Four conditions (full visual field, upper visual field, lower visual field, and no optic flow condition) were simulated in a VR environment ... Optic flow in the full and lower visual fields produced significantly smaller 95 % ellipse area and RMS of COP in the anterior-posterior direction compared to optic flow in the upper visual field. Furth... Visual feedback affects static postural control more when presented in the lower visual field compared to the upper visual field....

Five-Year Visual Field Outcomes of the HORIZON Trial.

To compare visual field (VF) progression between glaucoma patients receiving cataract surgery alone (CS) or with a Hydrus microstent (CS-HMS).... Post hoc analysis of VF data from the HORIZON multicenter randomized controlled trial.... A total of 556 patients with glaucoma and cataract were randomized 2:1 to either CS-HMS (369) or CS (187) and followed up for 5 years. VF was performed at 6 months and then every year after surgery. W... Data from 352 eyes in the CS-HMS arm and 165 in the CS arm were analyzed (2966 VFs). The mean RoP was -0.26 dB/y (95% credible interval -0.36, -0.16) for CS-HMS and -0.49 dB/y (95% credible interval -... CS-HMS has a significant effect on VF preservation in glaucoma patients compared with CS alone, reducing the proportion of fast progressors....

Effect of trabeculectomy on the rate of progression of visual field damage.

This study quantifies the effect of trabeculectomy on the rate of progression (RoP) of visual field (VF) damage utilising pre- and post-operative visual function as the outcome instead of surrogate ou... Clinical and VF data from 199 sequential patients who underwent trabeculectomy between 2015 and 2016 were extracted from the network of sites of Moorfields Eye Hospital NHS Foundation Trust. Of these,... We analysed 10 [9,12] VFs per subject (Median [Interquartile Range]). At surgery, the age was 67 [57, 72] years, mean deviation was -10.84 [-14.7, -5.6] dB and the IOP was 18 [15, 20] mmHg. One year a... Trabeculectomy leads to a significant reduction in the RoP of VF loss postoperatively....

A Consensus Statement on the Terminology for Automated Visual Field Abnormalities.

A multitude of terms have been used to describe automated visual field abnormalities. To date, there is no universally accepted system of definitions or guidelines. Variability among clinicians create... In phase one of the study, all neuro-ophthalmologists in Israel were asked to complete a survey in which they described the abnormalities in 10 selected automated visual field tests. In phase 2 of the... Twenty-six neuro-ophthalmologists participated in the initial survey. On average, there were 7.5 unique descriptions for each of the visual fields (SD 3.17), a description of only the location in 24.6... The study confirmed a great degree of variability in the use of terminology to describe automated visual field abnormalities. The creation of a consensus statement was associated with improved use of ...

Gaze tracker parameters have little association with visual field metrics of intrasession frontloaded SITA-Faster 24-2 visual field results.

To determine the usefulness of Humphrey Field Analyser (HFA) SITA-Faster 24-2 gaze tracker outputs on interpreting intra-visit visual field (VF) result pairs.... Analysis of 1380 right-left eye pairs and 1432 pairs of test 1-test 2 intrasession VF results of patients seen within a university-based glaucoma service was undertaken to understand gaze deviation di... There was no association of test order (right-left, test 1-test 2) with eye movements. There was a significant, but weak correlation between eye movements and age (r = 0.16). Correlations of eye movem... Eye movement parameters as currently reported by the HFA do not appear to be correlated with key sensitivity parameters when considering the repeatability of intrasession SITA-Faster 24-2 VF results. ...

Peripheral visual field loss and activities of daily living.

Peripheral visual field (VF) loss affects 13% of the population over 65. Its effect on activities of daily living and higher order visual processing is as important as it is inadequately understood. T... In this review, glaucoma and retrochiasmal cortical damage are utilized as examples of peripheral field loss which typically spare central vision and have patterns respecting the horizontal and vertic... Peripheral VF loss is an under-recognized cause of patient distress and disability. All peripheral field loss is not the same, differential patterns of loss affect parameters of activities of daily li...