Titre : Protéine SMARCB1

Protéine SMARCB1 : Questions médicales fréquentes

Termes MeSH sélectionnés :

Blood Flow Velocity
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SMARCB1", "description": "Quels sont les symptômes des tumeurs liées à SMARCB1 ?\nLes symptômes varient selon le type de cancer ?\nY a-t-il des symptômes précoces de la maladie ?\nLes enfants sont-ils plus touchés par ces symptômes ?\nComment les symptômes évoluent-ils avec le temps ?", "url": "https://questionsmedicales.fr/mesh/D000071796?mesh_terms=Blood+Flow+Velocity&page=3#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Protéine SMARCB1", "description": "Peut-on prévenir les mutations de SMARCB1 ?\nY a-t-il des tests de dépistage recommandés ?\nLes antécédents familiaux influencent-ils le risque ?\nDes conseils de mode de vie peuvent-ils aider ?\nLes vaccinations peuvent-elles prévenir les cancers ?", "url": "https://questionsmedicales.fr/mesh/D000071796?mesh_terms=Blood+Flow+Velocity&page=3#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Protéine SMARCB1", "description": "Quels traitements sont disponibles pour les tumeurs SMARCB1 ?\nLa thérapie ciblée est-elle efficace contre SMARCB1 ?\nQuel est le rôle de la chimiothérapie ?\nLes traitements sont-ils différents chez les enfants ?\nY a-t-il des effets secondaires des traitements ?", "url": "https://questionsmedicales.fr/mesh/D000071796?mesh_terms=Blood+Flow+Velocity&page=3#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Protéine SMARCB1", "description": "Quelles complications peuvent survenir avec SMARCB1 ?\nLes complications sont-elles réversibles ?\nComment gérer les complications liées au traitement ?\nLes complications affectent-elles la qualité de vie ?\nY a-t-il des complications spécifiques aux enfants ?", "url": "https://questionsmedicales.fr/mesh/D000071796?mesh_terms=Blood+Flow+Velocity&page=3#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Protéine SMARCB1", "description": "Quels sont les facteurs de risque pour SMARCB1 ?\nL'environnement joue-t-il un rôle dans le risque ?\nLes enfants sont-ils plus à risque ?\nLes facteurs de risque sont-ils modifiables ?\nY a-t-il des tests pour évaluer le risque ?", "url": "https://questionsmedicales.fr/mesh/D000071796?mesh_terms=Blood+Flow+Velocity&page=3#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer une anomalie de SMARCB1 ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic se fait par analyse génétique et biopsie tumorale." } }, { "@type": "Question", "name": "Quels tests sont utilisés pour détecter SMARCB1 ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Les tests incluent le séquençage de l'ADN et l'immunohistochimie." } }, { "@type": "Question", "name": "Quels signes cliniques indiquent une mutation de SMARCB1 ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Des tumeurs rhabdoïdes, des douleurs abdominales ou des masses palpables peuvent indiquer une mutation." } }, { "@type": "Question", "name": "La biopsie est-elle nécessaire pour le diagnostic ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la biopsie est souvent nécessaire pour confirmer la présence de mutations SMARCB1." } }, { "@type": "Question", "name": "Quels spécialistes sont impliqués dans le diagnostic ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Les oncologues, généticiens et pathologistes sont généralement impliqués." } }, { "@type": "Question", "name": "Quels sont les symptômes des tumeurs liées à SMARCB1 ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent des douleurs, des masses, et des troubles neurologiques selon la localisation." } }, { "@type": "Question", "name": "Les symptômes varient selon le type de cancer ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les symptômes dépendent du type de cancer associé à la mutation SMARCB1." } }, { "@type": "Question", "name": "Y a-t-il des symptômes précoces de la maladie ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes précoces peuvent être vagues, comme la fatigue ou des douleurs légères." } }, { "@type": "Question", "name": "Les enfants sont-ils plus touchés par ces symptômes ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les tumeurs rhabdoïdes affectent principalement les enfants, souvent avec des symptômes aigus." } }, { "@type": "Question", "name": "Comment les symptômes évoluent-ils avec le temps ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes peuvent s'aggraver rapidement, nécessitant une attention médicale urgente." } }, { "@type": "Question", "name": "Peut-on prévenir les mutations de SMARCB1 ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, il n'existe pas de méthode prouvée pour prévenir ces mutations." } }, { "@type": "Question", "name": "Y a-t-il des tests de dépistage recommandés ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Des tests génétiques peuvent être recommandés pour les familles à risque." } }, { "@type": "Question", "name": "Les antécédents familiaux influencent-ils le risque ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des antécédents familiaux de cancers peuvent augmenter le risque de mutations SMARCB1." } }, { "@type": "Question", "name": "Des conseils de mode de vie peuvent-ils aider ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Un mode de vie sain peut réduire le risque global de cancer, mais pas spécifiquement pour SMARCB1." } }, { "@type": "Question", "name": "Les vaccinations peuvent-elles prévenir les cancers ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Certaines vaccinations peuvent prévenir des cancers, mais pas ceux liés à SMARCB1." } }, { "@type": "Question", "name": "Quels traitements sont disponibles pour les tumeurs SMARCB1 ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements incluent la chirurgie, la chimiothérapie et la radiothérapie." } }, { "@type": "Question", "name": "La thérapie ciblée est-elle efficace contre SMARCB1 ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Des recherches sont en cours sur les thérapies ciblées, mais leur efficacité varie." } }, { "@type": "Question", "name": "Quel est le rôle de la chimiothérapie ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "La chimiothérapie vise à réduire la taille des tumeurs et à prévenir la récidive." } }, { "@type": "Question", "name": "Les traitements sont-ils différents chez les enfants ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les traitements peuvent être adaptés en fonction de l'âge et de la santé de l'enfant." } }, { "@type": "Question", "name": "Y a-t-il des effets secondaires des traitements ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les effets secondaires peuvent inclure nausées, fatigue et immunosuppression." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir avec SMARCB1 ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent la progression tumorale, la métastase et des effets secondaires des traitements." } }, { "@type": "Question", "name": "Les complications sont-elles réversibles ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes." } }, { "@type": "Question", "name": "Comment gérer les complications liées au traitement ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "La gestion des complications nécessite un suivi médical régulier et des soins symptomatiques." } }, { "@type": "Question", "name": "Les complications affectent-elles la qualité de vie ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les complications peuvent significativement affecter la qualité de vie des patients." } }, { "@type": "Question", "name": "Y a-t-il des complications spécifiques aux enfants ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les enfants peuvent éprouver des complications uniques liées à leur développement." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque pour SMARCB1 ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs incluent des antécédents familiaux, des mutations génétiques et l'âge." } }, { "@type": "Question", "name": "L'environnement joue-t-il un rôle dans le risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Des facteurs environnementaux peuvent influencer le risque, mais leur impact est encore étudié." } }, { "@type": "Question", "name": "Les enfants sont-ils plus à risque ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les enfants sont plus susceptibles de développer des tumeurs liées à SMARCB1." } }, { "@type": "Question", "name": "Les facteurs de risque sont-ils modifiables ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Certains facteurs de risque, comme le mode de vie, peuvent être modifiés pour réduire le risque." } }, { "@type": "Question", "name": "Y a-t-il des tests pour évaluer le risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Des tests génétiques peuvent aider à évaluer le risque de mutations SMARCB1." } } ] } ] }

Sources (10000 au total)

The effects of aneurysmal subarachnoid hemorrhage on cerebral vessel diameter and flow velocity.

Transcranial Doppler flow velocity is used to monitor for cerebral vasospasm following aneurysmal subarachnoid hemorrhage. Generally, blood flow velocities appear inversely related to the square of ve... This is a single-site, retrospective, cohort study of adult patients with aneurysmal subarachnoid hemorrhage, approved by the UT Southwestern Medical Center Institutional Review Board. Study inclusion... 98 patients were included. Velocity-diameter relationships are curvilinear, and well fit by a simple inverse power function. Middle cerebral arteries showed the highest power factors (>1.1, R... These results suggest that middle cerebral artery velocity-diameter relationships are most influenced by local fluid dynamics, which supports these vessels as preferred endpoints in Doppler detection ...

A comparison of phase unwrapping methods in velocity-encoded MRI for aortic flows.

The phase of a MRI signal is used to encode the velocity of blood flow. Phase unwrapping artifacts may appear when aiming to improve the velocity-to-noise ratio (VNR) of the measured velocity field. T... We compare four different phase unwrapping algorithms on two different synthetic datasets of four-dimensional flow MRI and 26 datasets of 2D PC-MRI acquisitions including the ascending and descending ... Using the unwrapping algorithms, we were able to remove aliased voxels in the data almost entirely, reducing the L2-error compared to the ground truth by 50%-80%. Results indicated that the best choic... The temporal method and spatiotemporal Laplacian method provide the best results, with the spatiotemporal Laplacian being more robust. However, single-...

Response of internal carotid artery blood flow velocity to fluid challenge under general anesthesia in pediatric patients with moyamoya disease: A prospective observational study.

Maintaining cerebral blood flow is important in intraoperative management of moyamoya disease patients.... To access changes in the carotid artery blood flow velocity in response to fluid challenge, blood pressure, and cardiac output under general anesthesia in pediatric patients with moyamoya disease.... This observational study included pediatric patients with moyamoya disease undergoing general anesthesia for encephaloduroarteriosynangiosis. Each patient underwent an ultrasound assessment thrice as ... We enrolled and analyzed 30 patients with a mean age of 7.2 years. After fluid challenge, the systolic (p = .003) and mean blood pressure (p = .017), stroke volume index (p = .008), and cardiac index ... The internal carotid artery blood flow velocity did not increase in pediatric patients with moyamoya disease under general anesthesia, despite fluid challenge and corresponding changes in the blood pr...

Effects of caffeine on cerebral blood flow.

The objective of the present study is to evaluate whether, after caffeine ingestion, there are variations in blood velocity of the middle cerebral arteries in clinically healthy young people as well a... We used transcranial Doppler ultrasonography to record blood velocities of the middle cerebral arteries in three groups of 15 clinically healthy young adults each: no caffeine, a45 mg, and 120 mg of c... There was a significant decrease in mean velocity, peak systolic velocity, end-diastolic velocity, and heart rate after high caffeine intake, except in hyperventilation, which was only observed in pea... With this study, we conclude that caffeine influences the cardiovascular system acutely, interfering with the velocity of the middle cerebral arteries, causing its decrease. We also conclude that this...

Assessment of cerebral blood flow velocities, brain midline shift and optic nerve sheath diameter by ultrasound in patients undergoing elective craniotomy: A prospective observational feasibility study.

Brain ultrasound allows measuring the cerebral flow velocity, brain midline shift and optic nerve sheath diameter. Literature is scarce in determining the feasibility to perioperatively perform these ... We assessed bilateral cerebral flow velocities, composite index, brain midline shift and optic nerve sheath diameter by cerebral ultrasound in patients scheduled for elective craniotomy before anesthe... Sixteen patients were included, of these two were excluded from analysis due to an inadequate sonographic window. There were no changes throughout the study regarding cerebral flow velocity, brain mid... The results of our study show the feasibility to perform a perioperative assessment of cerebral flow velocity, brain midline shift or optic nerve sheath diameter jointly and successfully to obtain add...

Prognostic value of Doppler echocardiographic coronary flow velocity assessment at rest in elderly patients.

Atherosclerosis and coronary artery disease (CAD) are a common condition and cause of death in the elderly population. There are difficulties with risk assessment in the elderly as the objectification... One hundred forty-five patients, aged ≥75years (99 women; 80 ± 4 years), formed the study group. Left coronary artery flows were scanned in addition to conventional echocardiography. During a median f... In multivariable analysis, maximal coronary velocity was the only independent predictor for mortality (heart rate [HR]: 1.02, 95%, CI: 1.01-1.04,... Doppler CFL scanning during routine echocardiography is a feasible and valuable tool for assessment of short-term prognosis in elderly patients....

Reference values for intracoronary Doppler flow velocity-derived hyperaemic microvascular resistance index.

Invasive assessments of microvascular function are rapidly becoming an integral part of physiological assessment in chronic coronary syndromes.... We aimed to establish a reference range for Doppler flow velocity-derived hyperaemic microvascular resistance index (HMR) in a cohort of angina with no significant epicardial coronary obstruction (ANO... The reference population consisted of ANOCA patients undergoing invasive coronary vasomotor function assessment who had a coronary flow reserve (CFR) >2.5, and had either (1) tested negatively for spa... In 41 patients median HMR amounted to 1.6 mmHg/cm/s [Q1, Q3: 1.3, 2.2 mmHg/cm/s]. The reference range for HMR that is applicable to 95% of the population was 0.8 mmHg/cm/s (90% CI: 0.8-1.0 mmHg/cm/s) ... In this reference population undergoing invasive coronary vasomotor function testing, the 90% confidence interval of the HMR upper limit of normal ranges from 2.6 to 2.7 mmHg/cm/s. A > 2.5 mmHg/cm/s H...