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"description": "Comment diagnostiquer une déficience en recombinases ?\nQuels tests sont utilisés pour évaluer l'activité des recombinases ?\nLes symptômes peuvent-ils indiquer un problème de recombinases ?\nQuels marqueurs biologiques sont associés aux recombinases ?\nPeut-on détecter des recombinases par imagerie médicale ?",
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"@type": "Question",
"name": "Comment diagnostiquer une déficience en recombinases ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests génétiques et des analyses de l'ADN peuvent identifier des anomalies."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour évaluer l'activité des recombinases ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests de recombinaison in vitro et des analyses de séquençage sont courants."
}
},
{
"@type": "Question",
"name": "Les symptômes peuvent-ils indiquer un problème de recombinases ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des anomalies immunitaires ou des troubles génétiques peuvent être des indicateurs."
}
},
{
"@type": "Question",
"name": "Quels marqueurs biologiques sont associés aux recombinases ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des niveaux anormaux de certains ARN ou protéines peuvent signaler des dysfonctionnements."
}
},
{
"@type": "Question",
"name": "Peut-on détecter des recombinases par imagerie médicale ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, l'imagerie ne peut pas détecter directement les recombinases, mais elle aide à évaluer les effets."
}
},
{
"@type": "Question",
"name": "Quels symptômes sont liés à une déficience en recombinases ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des infections fréquentes, des troubles auto-immuns et des cancers peuvent survenir."
}
},
{
"@type": "Question",
"name": "Les troubles de la recombinaison affectent-ils le système immunitaire ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils peuvent entraîner une immunodéficience et une susceptibilité accrue aux infections."
}
},
{
"@type": "Question",
"name": "Y a-t-il des signes cliniques de dysfonction des recombinases ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des anomalies dans les tests sanguins et des symptômes d'inflammation peuvent apparaître."
}
},
{
"@type": "Question",
"name": "Les cancers sont-ils liés aux anomalies des recombinases ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des mutations dans les gènes de recombinases peuvent augmenter le risque de cancers."
}
},
{
"@type": "Question",
"name": "Les symptômes varient-ils selon le type de recombinase affectée ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes dépendent du type de recombinase et de son rôle dans l'organisme."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir les troubles liés aux recombinases ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention est difficile, mais un diagnostic précoce peut aider à gérer les symptômes."
}
},
{
"@type": "Question",
"name": "Les tests génétiques peuvent-ils aider à prévenir les troubles ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests génétiques permettent d'identifier les porteurs et de planifier des interventions."
}
},
{
"@type": "Question",
"name": "Y a-t-il des recommandations pour les familles à risque ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les conseils génétiques et le suivi médical régulier sont recommandés pour les familles à risque."
}
},
{
"@type": "Question",
"name": "L'éducation sur les maladies génétiques est-elle importante ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, une meilleure compréhension des maladies génétiques peut aider à la prévention et à la gestion."
}
},
{
"@type": "Question",
"name": "Les vaccinations peuvent-elles prévenir des complications ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines vaccinations peuvent réduire le risque d'infections chez les patients immunodéficients."
}
},
{
"@type": "Question",
"name": "Quels traitements existent pour les déficiences en recombinases ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les thérapies géniques et les traitements immunologiques sont des options possibles."
}
},
{
"@type": "Question",
"name": "Peut-on corriger les anomalies des recombinases par des médicaments ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'existe pas de médicaments spécifiques pour corriger ces anomalies."
}
},
{
"@type": "Question",
"name": "La thérapie génique est-elle efficace pour les troubles liés aux recombinases ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des études montrent des résultats prometteurs, mais des recherches supplémentaires sont nécessaires."
}
},
{
"@type": "Question",
"name": "Les traitements préventifs sont-ils disponibles pour les troubles de recombinases ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il n'existe pas de traitements préventifs, mais un suivi médical régulier est recommandé."
}
},
{
"@type": "Question",
"name": "Les greffes de cellules souches peuvent-elles aider ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elles peuvent être bénéfiques pour certains patients avec des troubles immunitaires liés."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec des troubles de recombinases ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des infections récurrentes, des cancers et des troubles auto-immuns sont possibles."
}
},
{
"@type": "Question",
"name": "Les troubles de recombinases augmentent-ils le risque de cancer ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des mutations dans les gènes de recombinases sont souvent associées à divers cancers."
}
},
{
"@type": "Question",
"name": "Comment les troubles de recombinases affectent-ils la qualité de vie ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Ils peuvent entraîner des limitations physiques, des hospitalisations fréquentes et des douleurs."
}
},
{
"@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": "Les troubles de recombinases peuvent-ils affecter la fertilité ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains troubles peuvent avoir un impact sur la fertilité, nécessitant une évaluation."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour les troubles de recombinases ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des antécédents familiaux de maladies génétiques et des mutations spécifiques augmentent le risque."
}
},
{
"@type": "Question",
"name": "L'exposition à des agents environnementaux influence-t-elle les troubles ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains agents environnementaux peuvent augmenter le risque de mutations génétiques."
}
},
{
"@type": "Question",
"name": "Les facteurs génétiques jouent-ils un rôle dans les troubles de recombinases ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des mutations héréditaires dans les gènes de recombinases sont souvent impliquées."
}
},
{
"@type": "Question",
"name": "Le sexe influence-t-il le risque de troubles de recombinases ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines conditions peuvent être plus fréquentes chez un sexe, mais cela varie selon les maladies."
}
},
{
"@type": "Question",
"name": "L'âge est-il un facteur de risque pour les troubles de recombinases ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains troubles peuvent se manifester plus tard dans la vie, augmentant le risque avec l'âge."
}
}
]
}
]
}
Tablet-based perimetry could be used to test for glaucomatous visual field defects in settings without easy access to perimeters, although few studies have assessed diagnostic accuracy of tablet-based...
This was a prospective, cross-sectional study of patients undergoing their first Humphrey Field Analyser (HFA) visual field test at a glaucoma clinic in India. Participants underwent 24-2 SITA Standar...
203 eyes from 115 participants were included, with 82 eyes classified as moderate or worse glaucoma. iPad perimetry had an area under the receiver operating characteristic (AUROC) curve of 0.64 (95% C...
iPad perimetry using the visualFields Easy application had inadequate diagnostic accuracy to be used as a screening tool for glaucoma in this South Indian population....
The benefit of protective headgear for recreational skiers is an ongoing debate in the snow sports industry, and there are a lot of opposing opinions. Due to the dynamic conditions in which winter spo...
To determine the horizontal extent of the binocular visual field (BVF) in subjects with horizontal strabismus and whether the BVF falls below the driving standard....
Adults with congenital esotropia and infantile exotropia ≤45 Prism Dioptres (PD), and subjects with orthotropia were recruited. The manifest angle of deviation was measured using a simultaneous prism ...
Forty-nine subjects were included: 10 with orthotropia, 20 with exotropia and 19 with esotropia. The horizontal extent of BVF (degrees) was significantly smaller in esotropes (122.8 ± 18.8) than in or...
The horizontal extent of BVF is significantly smaller and more variable in adults with congenital esotropia and may fall below the driving standard....
Largest study on visual fields in subjects with horizontal strabismus including an orthotropic control group who do not have diplopia and who would otherwise meet the driving standard. Visual field qu...
The findings of this study would suggest that people with an esotropia should be offered the opportunity to have a binocular visual field test before applying for a driving license. The DVLA may want ...
Visual abilities tend to vary predictably across the visual field-for simple low-level stimuli, visibility is better along the horizontal vs. vertical meridian and in the lower vs. upper visual field....
In natural environments, head movements are required to search for objects outside the field of view (FoV). Here we investigate the power of a salient target in an extended visual search array to faci...
Optic disc drusen (ODD) are calcified deposits in the prelaminar portion of the optic nerve head. Although often asymptomatic, these deposits can cause progressive visual field defects and vision loss...
This was a retrospective cohort study including 65 eyes of 43 patients with ODD from the Duke Ophthalmic Registry. All eyes had at least 12 months of follow-up and at least 3 reliable standard automat...
Subjects were followed for an average of 7.6 ± 5.3 years. The mean rate of SAP MD change was -0.23 ± 0.26 dB/year, ranging from -1.19 to 0.13 dB/year. Fifty-seven eyes (87.7%) had slow progression (sl...
Most eyes with ODD had slow rates of visual field loss over time. Age and baseline severity were significantly associated with faster rates of visual field loss....
To evaluate the association between baseline severity of visual field (VF) damage and the initial rates of VF progression with quality of life (QOL) outcomes over an extended follow-up in glaucoma....
Retrospective cohort study....
Both eyes of 167 glaucoma or suspected glaucoma patients were followed for 10.0±0.3 years. The National Eye Institute Visual Function Questionnaire (NEI-VFQ)-25 was performed at the end of the follow-...
All models demonstrated association of worse baseline severity of VF damage with worse subsequent NEI-VFQ-25 scores. Faster rates of decline in VF mean deviation of the better eye and the mean sensiti...
Baseline severity and initial rates of change of VF damage are associated with QOL outcomes over an extended follow-up. Assessment of longitudinal VF changes, especially in better eye, provides progno...
To investigate the intereye correlations between and differences in the rates of visual field (VF) progression in eyes with bilateral open-angle glaucoma....
Retrospective, longitudinal, observational study....
Patients with bilateral open-angle glaucoma with 8 or more reliable 30 - 2 standard automated perimetry tests over a period of more than 2 years were enrolled. The rate of change of the MD (MD slope) ...
One hundred eighty-eight eyes from 94 patients (56 women) were enrolled. A significant intereye correlation of the rates of visual field progression (P = .002) was found. The mean ± standard deviation...
A significant intereye correlation in the rate of VF progression was found in eyes with bilateral open-angle glaucoma. We showed the distributions and associated factors of intereye differences in VF ...
To investigate the influence of peripapillary retinoschisis (PRS) on visual field (VF) test results in patients with primary open angle glaucoma (POAG)....
Thirty eyes of 30 patients with POAG who had PRS at least once were included. All eyes were followed-up for a minimum 5 years at 4-6-month intervals. The occurrence of PRS was determined by circumpapi...
Global MD (p=0.345) and regional VF deviations (p=0.255) did not differ significantly between immediately after and just prior to PRS formation. Global MD (p=0.846) and regional VF deviations (p=0.758...
PRS has no short-term effect on the VF sensitivity. Therefore, VF test can still be useful for evaluating glaucomatous damage even in the presence of PRS compared with OCT....
Visual input is not equally processed over space. In recent years, a right visual field advantage during free walking and standing in orientation discrimination and contrast detection task was reporte...