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"headline": "Diagnostic sur Protéine SMARCB1",
"description": "Comment diagnostiquer une anomalie de SMARCB1 ?\nQuels tests sont utilisés pour détecter SMARCB1 ?\nQuels signes cliniques indiquent une mutation de SMARCB1 ?\nLa biopsie est-elle nécessaire pour le diagnostic ?\nQuels spécialistes sont impliqués dans le diagnostic ?",
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"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 ?",
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"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 ?",
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"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 ?",
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"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 ?",
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"@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."
}
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{
"@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."
}
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{
"@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."
}
}
]
}
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}
Temporal lobe epilepsy (TLE) is increasingly associated with blood-brain barrier dysfunction and microvascular alterations, yet the pathophysiological link is missing. An important barrier function is...
The goal of hemodynamic resuscitation is to optimize the microcirculation of organs to meet their oxygen and metabolic needs. Clinicians are currently blind to what is happening in the microcirculatio...
The retinal vascular network supplies perfusion to vital visual structures, including retinal ganglion cells responsible for vision. Impairments in retinal blood flow and oxygenation are involved in t...
Although recanalization can be successful, microcirculatory dysfunction is common in acute large vessel occlusive stroke (LVOS). We assessed the microcirculation time by postprocessing software and an...
Patients with acute LVOS treated with MT were retrospectively enrolled consecutively. We measured the time to peak (TTP) and cerebral circulation time (CCT) in regions of interest on digital subtracti...
A total of 215 patients were finally included. Of them, 118 (54.9%) had a favourable outcome at 90 days. Multivariate analysis showed that the microvascular cerebral circulation time (mCCT) was signif...
The mCCT immediately after recanalization is a powerful predictive factor for 90-day functional prognosis....
To quantify the effect of long-term high-altitude (HA) exposure on retinal and choroidal microcirculation and to relate these changes to high-altitude polycythemia (HAPC), as a proxy for etiopathogene...
Fifty-one HAPC patients, 50 healthy HA residents, and 43 low altitude (LA) residents were recruited in this study. Optical coherence tomography angiography (OCTA) and enhanced depth imaging (EDI)-OCT ...
In HAPC group, VD (30.62 ± 3.67%), SD (13.25 ± 1.64%), FD (1.79 ± 0.04), and the CVI (63.01 ± 1.42%) were significant lower and SFCT (403.25 ± 94.3 μm) was significant thicker than healthy HA group (a...
Long-term exposure to HA environment induces retinal and choroidal microcirculation disturbance in HAPC patients. However, these changes were not evident in healthy HA residents because of adaptation....
Monitoring microcirculation and visualizing microvasculature are critical for providing diagnosis to medical professionals and guiding clinical interventions. Ultrasound provides a medium for monitori...
Five ultrasonic modalities were studied: grayscale, color Doppler, power Doppler, superb microvascular imaging (SMI), and microflow imaging (MFI), using six linear probes across two ultrasound scanner...
Superb Microvascular Imaging (SMI) and Micro Flow Imaging (MFI) modalities provided superior images when compared with conventional ultrasound imaging modalities both in vitro and in vivo. The choice ...
Our data demonstrated that SMI and MFI used with vascular probes operating at higher frequencies provided resolutions acceptable for microvasculature visualization, paving the path for future developm...
The objective of this study was to evaluate the association between serum albumin levels and microcirculation changes, glycocalyx degradation, and the clinical outcomes of interest....
Observational, prospective study in children with sepsis. The primary outcome was the association between hypoalbuminemia and microcirculation disorders, endothelial activation and glycocalyx degradat...
A total of 125 patients with sepsis were included. The median age was 2.0 years (IQR 0.5-12.5). Children with hypoalbuminemia had more abnormal microcirculation with a higher PBR (2.16 μm [IQR 2.03-2....
In children with sepsis, an association was found between hypoalbuminemia and microcirculation changes, vascular permeability, and greater endothelial glycocalyx degradation....
To assess the effect of exergaming on the microcirculation function of adolescents with overweight or obesity, this non-randomized clinical trial efficacy was conducted with 61 adolescents aged betwee...
Hemodynamics imaging of the retinal microcirculation has been demonstrated to be potential access to evaluating ophthalmic diseases, cardio-cerebrovascular diseases, and metabolic diseases. However, e...
We present a miniature oblique back-illumination microscope (mOBM) for imaging the microcirculation of human oral mucosa, enabling real-time, label-free phase contrast imaging of individual leukocytes...