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Séquences d'acides nucléiques régulatrices
Séquences d'acides nucléiques régulatrices : Questions médicales fréquentes
Termes MeSH sélectionnés :
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"@type": "Question",
"name": "Comment identifier une séquence régulatrice ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'identification se fait par des techniques comme la PCR et le séquençage."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour analyser les séquences régulatrices ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests comme l'empreinte génétique et l'analyse de l'expression génique sont utilisés."
}
},
{
"@type": "Question",
"name": "Peut-on détecter des mutations dans ces séquences ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des mutations peuvent être détectées par séquençage ciblé ou NGS."
}
},
{
"@type": "Question",
"name": "Quels marqueurs sont associés aux séquences régulatrices ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les marqueurs épigénétiques comme la méthylation de l'ADN sont souvent associés."
}
},
{
"@type": "Question",
"name": "Comment évaluer l'activité d'une séquence régulatrice ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'activité peut être évaluée par des essais de reporter génique."
}
},
{
"@type": "Question",
"name": "Quels symptômes sont liés à des anomalies régulatrices ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des anomalies peuvent entraîner des maladies génétiques, des cancers ou des troubles métaboliques."
}
},
{
"@type": "Question",
"name": "Les séquences régulatrices affectent-elles le développement ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elles jouent un rôle crucial dans le développement embryonnaire et cellulaire."
}
},
{
"@type": "Question",
"name": "Peut-on observer des symptômes neurologiques ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines mutations régulatrices peuvent être liées à des troubles neurologiques."
}
},
{
"@type": "Question",
"name": "Les troubles hormonaux sont-ils liés à ces séquences ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des séquences régulatrices peuvent influencer la régulation hormonale."
}
},
{
"@type": "Question",
"name": "Y a-t-il des symptômes immunologiques associés ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des anomalies peuvent entraîner des dysfonctionnements du système immunitaire."
}
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{
"@type": "Question",
"name": "Comment prévenir les maladies liées aux séquences régulatrices ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention passe par le dépistage génétique et la sensibilisation aux facteurs de risque."
}
},
{
"@type": "Question",
"name": "Les conseils génétiques sont-ils utiles ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils aident à évaluer le risque et à prendre des décisions éclairées."
}
},
{
"@type": "Question",
"name": "Peut-on éviter les mutations par des choix de vie ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains choix de vie, comme l'alimentation et l'exercice, peuvent réduire les risques."
}
},
{
"@type": "Question",
"name": "Les vaccinations jouent-elles un rôle ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines vaccinations peuvent prévenir des infections qui influencent l'expression génique."
}
},
{
"@type": "Question",
"name": "Y a-t-il des programmes de sensibilisation ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des programmes éducatifs sensibilisent aux maladies génétiques et à leur prévention."
}
},
{
"@type": "Question",
"name": "Quels traitements ciblent les séquences régulatrices ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des thérapies géniques et des médicaments ciblant des voies spécifiques sont en développement."
}
},
{
"@type": "Question",
"name": "Peut-on corriger des mutations régulatrices ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des techniques comme CRISPR permettent de corriger certaines mutations."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils personnalisés ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la médecine personnalisée adapte les traitements selon le profil génétique."
}
},
{
"@type": "Question",
"name": "Quels sont les défis des traitements ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les défis incluent la spécificité, l'efficacité et les effets secondaires potentiels."
}
},
{
"@type": "Question",
"name": "Y a-t-il des essais cliniques en cours ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, de nombreux essais cliniques explorent des thérapies ciblant ces séquences."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications incluent des cancers, des troubles métaboliques et des maladies auto-immunes."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles héréditaires ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être héréditaires, liées à des mutations dans les séquences régulatrices."
}
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"@type": "Question",
"name": "Comment les complications sont-elles gérées ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "La gestion implique un suivi médical régulier et des traitements adaptés."
}
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"@type": "Question",
"name": "Y a-t-il des risques de récidive ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains troubles peuvent avoir un risque de récidive, nécessitant une surveillance."
}
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"@type": "Question",
"name": "Les complications affectent-elles la qualité de vie ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elles peuvent significativement impacter la qualité de vie des patients."
}
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"@type": "Question",
"name": "Quels sont les facteurs de risque génétiques ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des antécédents familiaux de maladies génétiques augmentent le risque."
}
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{
"@type": "Question",
"name": "L'environnement influence-t-il ces séquences ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des facteurs environnementaux comme les toxines peuvent affecter l'expression génique."
}
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{
"@type": "Question",
"name": "Le mode de vie joue-t-il un rôle ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des habitudes comme le tabagisme et l'alimentation peuvent influencer le risque."
}
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"@type": "Question",
"name": "Les infections sont-elles un facteur de risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines infections peuvent déclencher des modifications dans les séquences régulatrices."
}
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"@type": "Question",
"name": "Y a-t-il des facteurs de risque liés à l'âge ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le risque de maladies génétiques augmente avec l'âge."
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The purpose of this study was to predict visual acuity (VA) 90 days after presentation for patients with microbial keratitis (MK) from data at the initial clinical ophthalmic encounter....
Patients with MK were identified in the electronic health record between August 2012 and February 2021. Random forest (RF) models were used to predict 90-day VA < 20/40 [visual impairment (VI)]. Predi...
One thousand seven hundred ninety-one patients were identified. The presenting logMAR VA was on average 0.86 (Snellen equivalent and standard deviation = 20/144 ± 12.6 lines) in the affected or worse ...
RF modeling yielded good sensitivity and specificity to predict VI at 90 days which could guide clinicians about the risk of poor vision outcomes for patients with MK....
To provide a solution for average paraxial lens power (A...
Myopia control spectacle lenses with peripheral lenslets are gaining popularity because they are non-invasive and easy to manage, and ongoing clinical trials have shown promising results. This study a...
High-contrast (100%) VA was measured at 300 cm and 10 lx. For each test, two lens designs were evaluated in counterbalanced order: a spectacle lens with highly aspherical lenslets (HALs) and a standar...
Mean (SD) central VAs with peripheral gaze through the SVL and the HAL lens were 0.08 (0.13) and 0.17 (0.12) logMAR, respectively. The HAL lens reduced central VA with peripheral gaze by 0.10 (0.08) l...
Under high-contrast and low-luminance conditions, the HAL lens reduced central VA with peripheral gaze by approximately one line compared with the SVL. The impact on central VA did not vary with gaze ...
To investigate associated factors including structural parameters of myopia and vessel density (VD) using optical coherence tomography angiography (OCT-A) to visual acuity (VA) and central visual func...
Retrospective cross-sectional study....
Sixty-five eyes of 60 glaucoma patients with myopia and without media opacity and retinal lesions were included. Both Swedish interactive thresholding algorithm (SITA) 24-2 and 10-2 visual field (VF) ...
The worse mean deviation of SITA 24-2, thinner GCIPL thickness, and lower deep peripapillary VD were associated with the presence of central VF damage in glaucoma patients with myopia. Thinner GCIPL t...
Decreased VA in glaucoma patients with myopia was associated with lower deep peripapillary VD and papillomacular bundle damage. Lower deep peripapillary VD was independently associated with decreased ...
Visual acuity measurement is important for the detection and monitoring of eye disorders. Developing accurate and sensitive visual acuity tests suitable for young children is therefore desirable....
Recognition or form visual acuity (VA), which is measured with matching in children aged 3 years and up, is more sensitive for detecting visual deficits compared to resolution VA. The Waterloo Differe...
Fifty-one typically-developing children aged 12-36 months participated in the study. Data for Patti Pics (PP) and Face targets (FT) were collected for formats with 3, 4 and 5 distractors. The targets ...
Of participants aged 18-36 months, 87% could perform the WatDAT PP targets with 3 distractors compared to 68% for the FT, while 48% could perform matching with PP. The testability for FT increased to ...
WatDAT testability is higher than matching VA tests. This indicates that the newly developed WatDAT has potential for measuring recognition VA in children 18 months and older....
Visual acuity is commonly assumed to be determined by the eye optics and spatial sampling in the retina. Unlike a camera, however, the eyes are never stationary during the acquisition of visual inform...
To investigate the agreement between a mobile applet-based visual acuity (VA) self-test program and the conventional VA tests....
This consecutive case series study included 121 children and adults (242 eyes). Patients were classified into three groups according to age (children, adolescents, and adults). They underwent uncorrec...
Correlations among UDVA, DVA with ASC, UNVA, and NVA with ASC between the two methods were significant in all subjects (all p < 0.001). The intraclass correlation coefficient were 0.960, 0.845, 0.960,...
There is good agreement between the mobile applet-based VA self-test program and the conventional VA tests. The VA self-test has good practical value especially in the current pandemic, allowing self-...
To validate the Easee web-based tool for the assessment of visual acuity in patients who underwent cataract surgery....
University Eye Clinic Maastricht, Maastricht, the Netherlands....
Prospective method comparison study....
Subjects aged between 18 and 69 years who underwent cataract surgery on 1 or both eyes at the Maastricht University Medical Center+ were eligible to participate in this study. The uncorrected (UDVA) a...
46 subjects with 75 operated eyes were included in this study. The difference of the UDVA between the web-based tool and ETDRS or Snellen was -0.05 ± 0.10 logMAR ( P < .001 [0.15; -0.26]) and -0.04 ± ...
The web-based tool was validated for the assessment of visual acuity in patients who underwent cataract surgery and showed clinically acceptable outcomes in up to 88% of patients. Most of the particip...
Astronauts are exposed to an austere and constantly changing environment during space travel. To respond to these rapid environmental changes, high levels of dynamic visual acuity (DVA) are required. ...
This study aimed to assess grating visual acuity and functional vision in children with congenital Zika syndrome....
Initial and final grating visual acuity was measured using Teller acuity cards. Cerebral vision impairment standardized tests were used to assess functional vision. Patients were referred to the early...
In this study, 10 children were included with an age range of 1-37 months. Eight patients presented with macular atrophic scars. Neuroimaging revealed microcephaly and cerebral abnormalities in all pa...
The grating visual acuity test revealed low vision in all children with congenital Zika syndrome. Functional vision evaluation revealed cerebral vision impairment characteristics in all patients, who ...