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"description": "Comment diagnostiquer un déficit en galactosylceramidase ?\nQuels tests sont utilisés pour le diagnostic ?\nQuels symptômes peuvent indiquer un déficit ?\nLe diagnostic est-il difficile à établir ?\nY a-t-il des marqueurs biologiques spécifiques ?",
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"description": "Quels sont les facteurs de risque pour le déficit ?\nLe sexe influence-t-il le risque ?\nL'origine ethnique joue-t-elle un rôle ?\nLes facteurs environnementaux sont-ils impliqués ?\nLes antécédents médicaux influencent-ils le risque ?",
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"@type": "Question",
"name": "Comment diagnostiquer un déficit en galactosylceramidase ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un diagnostic se fait par des tests enzymatiques et génétiques pour évaluer l'activité de l'enzyme."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour le diagnostic ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les tests sanguins et les analyses d'urine sont couramment utilisés pour détecter le déficit."
}
},
{
"@type": "Question",
"name": "Quels symptômes peuvent indiquer un déficit ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des symptômes neurologiques, digestifs ou cutanés peuvent suggérer un déficit en galactosylceramidase."
}
},
{
"@type": "Question",
"name": "Le diagnostic est-il difficile à établir ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le diagnostic peut être complexe en raison de la variabilité des symptômes et des tests."
}
},
{
"@type": "Question",
"name": "Y a-t-il des marqueurs biologiques spécifiques ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des niveaux élevés de galactosylcéramide dans les fluides biologiques peuvent indiquer un déficit."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes principaux d'un déficit en galactosylceramidase ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent des troubles neurologiques, des problèmes de peau et des troubles digestifs."
}
},
{
"@type": "Question",
"name": "Les symptômes apparaissent-ils dès la naissance ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes peuvent apparaître à la naissance ou se développer progressivement durant l'enfance."
}
},
{
"@type": "Question",
"name": "Y a-t-il des symptômes spécifiques chez les adultes ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Chez les adultes, des troubles cognitifs et des problèmes de mobilité peuvent se manifester."
}
},
{
"@type": "Question",
"name": "Les symptômes sont-ils réversibles ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes ne sont généralement pas réversibles, mais un traitement peut aider à les gérer."
}
},
{
"@type": "Question",
"name": "Comment les symptômes évoluent-ils avec le temps ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes peuvent s'aggraver avec le temps, entraînant des complications neurologiques."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir le déficit en galactosylceramidase ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'existe pas de méthode de prévention pour ce déficit génétique."
}
},
{
"@type": "Question",
"name": "Le dépistage prénatal est-il possible ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le dépistage prénatal peut identifier les porteurs du gène responsable du déficit."
}
},
{
"@type": "Question",
"name": "Des conseils génétiques sont-ils recommandés ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des conseils génétiques peuvent aider les familles à comprendre les risques de transmission."
}
},
{
"@type": "Question",
"name": "Les tests de porteurs sont-ils disponibles ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des tests de porteurs sont disponibles pour évaluer le risque de déficit chez les descendants."
}
},
{
"@type": "Question",
"name": "Y a-t-il des recommandations pour les familles à risque ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les familles à risque devraient consulter un spécialiste pour des conseils et un suivi appropriés."
}
},
{
"@type": "Question",
"name": "Quel est le traitement principal pour le déficit en galactosylceramidase ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement principal est la thérapie enzymatique de remplacement pour compenser le déficit."
}
},
{
"@type": "Question",
"name": "Y a-t-il des médicaments spécifiques utilisés ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des médicaments comme les analogues de la sphingolipide peuvent être utilisés pour gérer les symptômes."
}
},
{
"@type": "Question",
"name": "La physiothérapie est-elle recommandée ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la physiothérapie peut aider à améliorer la mobilité et la qualité de vie des patients."
}
},
{
"@type": "Question",
"name": "Des interventions chirurgicales sont-elles nécessaires ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des interventions chirurgicales peuvent être nécessaires pour traiter certaines complications."
}
},
{
"@type": "Question",
"name": "Le traitement est-il efficace à long terme ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement peut améliorer la qualité de vie, mais il ne guérit pas le déficit enzymatique."
}
},
{
"@type": "Question",
"name": "Quelles sont les complications possibles du déficit ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des troubles neurologiques graves et des problèmes de développement."
}
},
{
"@type": "Question",
"name": "Le déficit peut-il entraîner des problèmes psychologiques ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des problèmes psychologiques comme l'anxiété et la dépression peuvent survenir."
}
},
{
"@type": "Question",
"name": "Y a-t-il des risques de complications à long terme ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les patients peuvent développer des complications à long terme affectant leur qualité de vie."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles évitables ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais elles ne sont pas entièrement évitables."
}
},
{
"@type": "Question",
"name": "Comment surveiller les complications ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un suivi régulier avec des spécialistes est essentiel pour surveiller et gérer les complications."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour le déficit ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux de maladies génétiques augmentent le risque de déficit en galactosylceramidase."
}
},
{
"@type": "Question",
"name": "Le sexe influence-t-il le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le déficit touche également les deux sexes, mais certaines formes peuvent être plus fréquentes chez les hommes."
}
},
{
"@type": "Question",
"name": "L'origine ethnique joue-t-elle un rôle ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines populations ont un risque plus élevé de déficits enzymatiques en raison de facteurs génétiques."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux sont-ils impliqués ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, les facteurs environnementaux ne sont pas clairement établis comme des risques."
}
},
{
"@type": "Question",
"name": "Les antécédents médicaux influencent-ils le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des antécédents médicaux de troubles métaboliques peuvent augmenter le risque de déficit."
}
}
]
}
]
}
To determine the ideal entry point and direction of retrograde intramedullary nailing of the tibia....
The imaging data of patients with distal tibial fractures from June 2020 to December 2021 in our hospital were collected, and computer-aided design was performed. The relevant data were imported into ...
The ideal entry point of the retrograde intramedullary nailing was located at the midpoint of the medial malleolus in the C-arm fluoroscopic anteroposterior (AP) and lateral view. The ideal nail entry...
The ideal point and direction of nail insertion for retrograde tibial intramedullary nailing is a "double midpoint, double axis" approach....
A theoretical numerical model is proposed to predict patient dependent osteoporotic bone degradation. The model parameters are identified through a particle swarm optimization algorithm and based on i...
Osteomyelitis is a bone inflammation that can be related to various infectious agents. As with any other type of inflammation, the prevailing symptoms and signs may include redness, swelling, pain, an...
A non-human immunodeficiency virus immunocompromised Greek female patient, 82 years old, visited the emergency department due to a 3 day pain located mainly over the left tibia's anterior surface, acc...
To our knowledge, this is the ninth cryptococcal osteomyelitis of the tibia to be recorded since 1974, and the most unusual finding was the bifocal nature of the infection, affecting both the tibia an...
To report the outcomes of patients with a fracture of the distal tibia who were treated with intramedullary nail versus locking plate in the five years after participating in the Fixation of Distal Ti...
The FixDT trial reported the results for 321 patients randomized to nail or locking plate fixation in the first 12 months after their injury. In this follow-up study, we report the results of 170 of t...
There was no evidence of a difference in patient-reported disability, health-related quality of life, or the need for further surgery between participants treated with either type of fixation at five ...
This study shows that the moderate levels of disability and reduced quality of life reported by participants 12 months after a fracture of the distal tibia persist in the medium term, with little evid...
Measuring the thickness of cortical bone tissue helps diagnose bone diseases or monitor the progress of different treatments. This type of measurement can be performed visually from CAT images by a ra...
Classical morphological and Deep Learning segmentation is used to extract the area of interest, filtering and interpolation to clean the bones and contour detection and Signed Distance Functions to me...
The method processed in an unattended manner 67% of the patients in the first run and 100% in the second run. The difference in the thickness values between the values provided by the algorithm and th...
Measuring the cortical thickness of a bone would allow us to prepare accurate traumatological surgeries or study their structural properties. Obtaining thickness profiles of an extensive set of patien...
The etiology of bone refractures after screw removal can be attributed to residual drill hole defects. This biomechanical study compared the torsional strength of bones containing various sized cortic...
Bicortical drill hole defects of 3 mm, 4 mm, and 5 mm diameters were tested in 26 composite tibias versus intact controls without a drill defect. Each tibia was secured in alignment with the rotationa...
All defect test groups were significantly lower (P < 0.01) in torque-to-failure than the intact group (82.80 ± 3.70 Nm). The 4 mm drill hole group was characterized by a significantly lower (P = 0.021...
All the tested drill hole sizes in this study significantly reduced the torque-to-failure from intact by a range of 28.4% to 38.4%, in agreement with previous similar studies. The 5 mm drill hole repr...
There are no formal practice guidelines for the surgical management of closed, Salter-Harris (SH) II distal tibia fractures. The purpose of this study was to survey the indications for operative and n...
We surveyed pediatric orthopedic surgeons at 20 tertiary care level-1 pediatric trauma centers. Surgeons were provided with 16 clinical scenarios that varied based on patient age and sex, and highligh...
In total, 33 of 37 surgeons completed the survey (89% response rate). All surgeons took trauma call at a level-1 pediatric trauma center and had an average of 8.8 years (SD: 6.5 y) of experience. Cons...
There is considerable variation regarding the indications for operative and nonoperative management of closed, SHII distal tibia fractures. Consensus was reached for nonoperative management in patient...
V....
Chondroblastoma considered a rare form of osseous neoplasm contributes less than 1% of all bone tumours. It is typically found in young patients with chief complaints of moderate pain with joint stiff...
Forensic anthropologists assess sex by analysing quantitative and qualitative characters of the human skeleton. In general, the pelvis and skull are the skeletal regions used most often, but in many c...
One of the major limitations of the 2D fracture evaluation (Schatzker classification) is its failure to adequately assess fracture lines in the frontal plane and fracture displacement in the antero-po...
Radiographic data of 228 proximal tibia fractures were retrospectively included in this study. Fracture lines and zones of comminution were graphically superimposed onto a 3D template of an intact tib...
Out of 206 male and 21 female patients, 89 had a fracture of the lateral condyle only (Schatzker I and II), 53 involved the medial plateau only (Schatzker IV) and 86 had a high-grade fracture involvin...
Medial tibial plateau fractures have a mix of coronal or sagittal fracture alignment. A clearer understanding of the 3D orientations of fractures based on CT scans can aid in diagnosing the pattern of...