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"name": "Diagnostic",
"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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"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 ?",
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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."
}
},
{
"@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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The question of how to specify the posterior tilt of the tibia during arthroplasty operations remains unclear. The most current opinion is that a design whereby incisions are made in parallel with the...
Long-shot radiographs of non-rotating lateral tibias of 85 patients aged between 18 and 38 years were analysed. The angle forming between the anterior metaphyseal line of the proximal tibia and the sl...
From the measurements of the posterior slope angle taken with the classical method, 38% (33/85) of the patients were within the ±2-degree range of the mean, and the anterior metaphyseal angle was with...
The anterior metaphyseal angle can be utilized to predict the individual posterior slope. Nevertheless, further large-scale, multicentre studies are needed to establish a mean value for the population...
When using traditional extensible intramedullary rods to treat congenital pseudarthrosis of the tibia (CPT), there were cases of re-fracture and internal fixation fracture. Therefore, the authors prop...
patients with multiple tibial angulation. During follow-up, the initial healing, proximal tibial valgus, tibial length, ankle valgus, refracture and intramedullary rod displacement of CPT children in ...
Ankle fractures are among the most common fractures sustained in the pediatric population. Given the frequency of physeal involvement of the distal fragment, complications including growth arrest, ove...
Management of patellar instability is still a clinical challenge, especially in pediatric and adolescent athletes. The purpose of the study was to check the association between the positive apprehensi...
This study aims to assess the natural history of congenital posteromedial bowing of the tibia (CPMBT) deformity during growth and to evaluate the outcomes of lengthening by an Ilizarov frame in CPMBT ...
Between January 2000 and December 2019, a total of 22 patients (12 males, 10 females; mean age: 10.5±4.4 years; range, 6 to 19 years) with the diagnosis of CPMBT and followed closely from birth until ...
The age of the patients ranged from six days to 10 months at the time of presentation, while the mean age at the final follow-up was 10.5±4.4 years. Posterior medial bowing was satisfactorily remodele...
According to the results of the current study, CPMBT was satisfactorily remodeled in more than half of the patients, and the majority of patients did not undergo surgery for angular deformity and LLD ...
Medial meniscal extrusion (MME) is a structural abnormality that leads to early knee osteoarthritis; however, its formation remains debated. For anatomical consideration of the mechanism underlying MM...
The best antibiotic spacer for periprosthetic knee joint infection treatment is unknown. Using a metal-on-polyethylene (MoP) component provides a functional knee and may avoid a second surgery. Our st...
A retrospective review evaluated 126 consecutive articulating knee spacer (64 APTs and 62 PIs) cases from 2016 to 2020 was performed. Demographic information, spacer components, complication rates, in...
There were no significant differences in overall complications (P < .48), spacer-related complications (P = 1.0), infection recurrences (P = 1.0), antibiotic-related complications (P < .24), or medica...
APT and PI tibial components have similar results regarding complication profiles and infection recurrence. Both may be durable if spacer retention is elected, with PI constructs being less expensive....
Traditional Ilizarov and hexapod frames have different biomechanical properties and there is limited literature regarding their effect on time to fracture union or time to frame removal....
Tibial fractures managed with a circular frame at a tertiary limb reconstruction referral centre between 2011 and 2018 were retrospectively identified from a prospectively maintained database. They we...
274 patients (median age 49 years, 36% female) were included in the analysis. 8.4% Ilizarov, 10.5% TSF and 13.5% TL-Hex frames required further surgery to aid fracture healing (p = 0.38). 30% of patie...
Ilizarov frames have demonstrated a reduced time to frame removal in the management of tibial fractures than hexapod frames. Differences in the time to frame removal, an indicator of time to fracture ...
Tibialis anterior (TA) muscle is the largest dorsiflexor of the ankle joint and plays an important role during gait movement. However, descriptions of the TA attachment site are inconsistent even amon...
Forty legs (20 males, 20 females) from twenty Japanese cadavers were examined. Gross anatomical examination of the TA's attachment site to the tibia and the tibia's shape was performed....
The location of the distal end of the TA's attachment on tibia was significantly more distal in males than in females (p < 0.01). The anterior border of the tibia had a gentle S-like curve, with a med...
There were sex differences in the distal end of the attachment site on tibia of the TA and the shape of the tibia. Consequently, the variations in the attachment site of TA were considered to provide ...
Osteosarcoma (OS) is a primary malignant bone tumor that originates in the mesenchymal tissue. It is the most common type of pleomorphic tumor occurring in children and adolescents. Currently, there i...
We describe a 14-year-old male patient with a 4-month history of pain in the upper right leg. Based on the results of percutaneous biopsy, a diagnosis of OS was made. After admission, the patient was ...
Intervention with denosumab combined with chemotherapy led to a significant reduction in tumor volume and ossification of soft tissue, which successfully resulted in limb salvage rather than amputatio...
Treatment with receptor activator of nuclear factor-ĸB ligand inhibitor denosumab combined with standard chemotherapy is effective for advanced OS progressing after chemotherapy. We recommend denosuma...