questionsmedicales.fr
États, signes et symptômes pathologiques
Signes et symptômes
Manifestations neurologiques
Paralysie
Ophtalmoplégie
Ophtalmoplégie externe progressive
Syndrome de Kearns-Sayre
Syndrome de Kearns-Sayre : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Syndrome de Kearns-Sayre
Diagnostic médical
ADN mitochondrial
Tests génétiques
Ophtalmoplégie
Troubles neurologiques
Électrocardiogramme
Cardiomyopathie
Biopsie musculaire
Anomalies mitochondriales
Symptômes
5
Symptômes
Cardiomyopathie
Fatigue
Syndrome de Kearns-Sayre
Troubles visuels
Rétinopathie
Troubles de l'équilibre
Coordination
Douleurs musculaires
Crampes
Prévention
5
Prévention
Maladie génétique
Tests génétiques
Portage génétique
Conseils génétiques
Transmission génétique
Antécédents familiaux
Tests prénataux
Soutien psychologique
Gestion des symptômes
Traitements
5
Traitement symptomatique
Syndrome de Kearns-Sayre
Coenzyme Q10
Fonction mitochondriale
Cardiomyopathie
Bêtabloquants
Aides visuelles
Interventions chirurgicales
Complications
5
Insuffisance cardiaque
Troubles neurologiques
Qualité de vie
Syndrome de Kearns-Sayre
Diabète
Syndrome de Kearns-Sayre
Troubles cognitifs
Mémoire
Facteurs de risque
5
Antécédents familiaux
Maladies mitochondriales
Sexe
Syndrome de Kearns-Sayre
Âge d'apparition
Syndrome de Kearns-Sayre
Facteurs environnementaux
Syndrome de Kearns-Sayre
Mutations génétiques
Transmission héréditaire
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"name": "Les tests génétiques peuvent-ils aider ?",
"position": 12,
"acceptedAnswer": {
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"text": "Oui, ils peuvent identifier les porteurs et informer les familles."
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{
"@type": "Question",
"name": "Les conseils génétiques sont-ils utiles ?",
"position": 13,
"acceptedAnswer": {
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},
{
"@type": "Question",
"name": "Les femmes enceintes doivent-elles être testées ?",
"position": 14,
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"position": 15,
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"name": "Quel est le traitement principal du syndrome ?",
"position": 16,
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},
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"name": "Les suppléments de coenzyme Q10 sont-ils utiles ?",
"position": 17,
"acceptedAnswer": {
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}
},
{
"@type": "Question",
"name": "Des médicaments sont-ils prescrits pour la cardiomyopathie ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des médicaments comme les bêtabloquants peuvent être utilisés."
}
},
{
"@type": "Question",
"name": "La physiothérapie est-elle recommandée ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la physiothérapie peut aider à améliorer la force et la mobilité."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements pour les troubles de la vision ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des aides visuelles et des interventions chirurgicales peuvent être envisagées."
}
},
{
"@type": "Question",
"name": "Quelles sont les complications possibles ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent l'insuffisance cardiaque et des troubles neurologiques."
}
},
{
"@type": "Question",
"name": "Le syndrome peut-il affecter la qualité de vie ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes peuvent gravement impacter la qualité de vie des patients."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de diabète ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains patients peuvent développer un diabète de type 2."
}
},
{
"@type": "Question",
"name": "Les troubles de la mémoire sont-ils fréquents ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles cognitifs et de la mémoire peuvent survenir."
}
},
{
"@type": "Question",
"name": "Les patients sont-ils à risque d'infections ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, une immunité affaiblie peut augmenter le risque d'infections."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque connus ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux de maladies mitochondriales sont un facteur de risque."
}
},
{
"@type": "Question",
"name": "Le sexe influence-t-il le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, le syndrome affecte les hommes et les femmes de manière égale."
}
},
{
"@type": "Question",
"name": "L'âge d'apparition est-il variable ?",
"position": 28,
"acceptedAnswer": {
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"text": "Oui, les symptômes peuvent apparaître entre l'enfance et l'âge adulte."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'y a pas de preuves solides sur l'influence environnementale."
}
},
{
"@type": "Question",
"name": "Les mutations génétiques sont-elles héréditaires ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les mutations peuvent être transmises par la mère à l'enfant."
}
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 16/02/2025
Contenu vérifié selon les dernières recommandations médicales
3 publications dans cette catégorie
Affiliations :
Division of Metabolism, IRCCS Bambino Gesù Children's Hospital, 00165, Rome, Italy.
Publications dans "Syndrome de Kearns-Sayre" :
3 publications dans cette catégorie
Affiliations :
St. Boniface Hospital Albrechtsen Research Centre, Regenerative Medicine Program, Department of Physiology and Pathophysiology, Rady Faculty of Health Sciences, Institute of Cardiovascular Sciences, Max Rady College of Medicine, University of Manitoba, Winnipeg, MB R2H 2A6, Canada.
Publications dans "Syndrome de Kearns-Sayre" :
3 publications dans cette catégorie
Affiliations :
St. Boniface Hospital Albrechtsen Research Centre, Regenerative Medicine Program, Department of Physiology and Pathophysiology, Rady Faculty of Health Sciences, Institute of Cardiovascular Sciences, Max Rady College of Medicine, University of Manitoba, Winnipeg, MB R2H 2A6, Canada.
Publications dans "Syndrome de Kearns-Sayre" :
3 publications dans cette catégorie
Affiliations :
St. Boniface Hospital Albrechtsen Research Centre, Regenerative Medicine Program, Department of Physiology and Pathophysiology, Rady Faculty of Health Sciences, Institute of Cardiovascular Sciences, Max Rady College of Medicine, University of Manitoba, Winnipeg, MB R2H 2A6, Canada.
Publications dans "Syndrome de Kearns-Sayre" :
3 publications dans cette catégorie
Affiliations :
Department of Pediatrics and Child Health, Rady Faculty of Health Sciences, Max Rady College of Medicine, University of Manitoba, Winnipeg, MB R3E 3P4, Canada.
Publications dans "Syndrome de Kearns-Sayre" :
3 publications dans cette catégorie
Affiliations :
St. Boniface Hospital Albrechtsen Research Centre, Regenerative Medicine Program, Department of Physiology and Pathophysiology, Rady Faculty of Health Sciences, Institute of Cardiovascular Sciences, Max Rady College of Medicine, University of Manitoba, Winnipeg, MB R2H 2A6, Canada.
Publications dans "Syndrome de Kearns-Sayre" :
2 publications dans cette catégorie
Affiliations :
Internal Medicine, Jersey Shore University Medical Center, Neptune, USA.
Publications dans "Syndrome de Kearns-Sayre" :
2 publications dans cette catégorie
Affiliations :
Internal Medicine, Jersey Shore University Medical Center, Neptune, USA.
Publications dans "Syndrome de Kearns-Sayre" :
2 publications dans cette catégorie
Affiliations :
Internal Medicine, Jersey Shore University Medical Center, Neptune, USA.
Publications dans "Syndrome de Kearns-Sayre" :
2 publications dans cette catégorie
Affiliations :
Internal Medicine, Jersey Shore University Medical Center, Neptune, USA.
Publications dans "Syndrome de Kearns-Sayre" :
2 publications dans cette catégorie
Affiliations :
Neuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, P.zza Sant'Onofrio 4, 00165, Rome, Italy. lucapasquini3@gmail.com.
Neuroradiology Unit, NESMOS Department, Sant'Andrea Hospital, La Sapienza University, 00189, Rome, Italy. lucapasquini3@gmail.com.
Publications dans "Syndrome de Kearns-Sayre" :
2 publications dans cette catégorie
Affiliations :
Neuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, P.zza Sant'Onofrio 4, 00165, Rome, Italy.
Neuroradiology Unit, NESMOS Department, Sant'Andrea Hospital, La Sapienza University, 00189, Rome, Italy.
Publications dans "Syndrome de Kearns-Sayre" :
2 publications dans cette catégorie
Affiliations :
Medical Physics Department, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.
Publications dans "Syndrome de Kearns-Sayre" :
2 publications dans cette catégorie
Affiliations :
Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, IRCCS Bambino Gesù Children's Hospital, 00146, Rome, Italy.
Publications dans "Syndrome de Kearns-Sayre" :
2 publications dans cette catégorie
Affiliations :
Neuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, P.zza Sant'Onofrio 4, 00165, Rome, Italy.
Publications dans "Syndrome de Kearns-Sayre" :
2 publications dans cette catégorie
Affiliations :
Department of Medical Biochemistry, Oslo University Hospital, Rikshospitalet, Oslo, 0027, Norway. mazyar.yazdani.edu@gmail.com.
Publications dans "Syndrome de Kearns-Sayre" :
2 publications dans cette catégorie
Affiliations :
Department of Emergency Medicine, University of Maryland School of Medicine, 110 South Paca Street, 6th Floor, Suite 200, Baltimore, MD 21201, USA. Electronic address: https://twitter.com/LeenAlblaihed.
Publications dans "Syndrome de Kearns-Sayre" :
2 publications dans cette catégorie
Affiliations :
Department of Emergency Medicine, Elisabeth TweeSteden Ziekenhuis, Hilvarenbeekseweg 60, 5022 GC Tilburg, the Netherlands; Department of Emergency Medicine, University of Maryland School of Medicine, MD, USA. Electronic address: m.huisintveld@etz.nl.
Publications dans "Syndrome de Kearns-Sayre" :
2 publications dans cette catégorie
Affiliations :
Zabludowicz Center for Autoimmune Diseases, Chaim Sheba Medical Center, Tel-Hashomer 5265601, Ramat-Gan; Reichmann University, Herzliya, Israel.
Publications dans "Syndrome de Kearns-Sayre" :
1 publication dans cette catégorie
Affiliations :
New York University School of Medicine, New York, New York.
Publications dans "Syndrome de Kearns-Sayre" :
We compared problem-solving in four sets of classical insight and analytic problems in the verbal and spatial domains, and examined the impact of externalization (verbalization or sketching). In a wit...
The intriguing phenomenon of insight (also known as the "Aha!" moment) has provoked a long-standing conflict over its cognitive mechanism. The special-process theory posits insight as a unique, uncons...
Despite great strides in both machine learning and neuroscience, we do not know how the human brain solves problems in the general sense. We approach this question by drawing on the framework of engin...
Creative problem solving (CPS) in real-world contexts often relies on reorganization of existing knowledge to serve new, problem-relevant functions. However, classic creativity paradigms that minimize...
Problem-solving (PS) has been identified as a therapeutic technique found in multiple evidence-based treatments for depression. To further understand for whom and how this intervention works, we under...
The application of neural network models to solve combinatorial optimization has recently drawn much attention and shown promising results in dealing with similar problems, like Travelling Salesman Pr...
Computational techniques are widely used to solve complex optimization problems in different fields such as engineering, finance, biology, and so on. In this paper, the Human Conception Optimizer (HCO...
The identification of unknown radionuclides is an authentic practical activity for students that provides the foundations for clinical problem solving, especially in the storage and management of radi...
Performing a systematic investigation of the physical properties of unknown radioactive samples is a rich learning opportunity to instil understanding of important physics principles among students in...
This manuscript outlines an investigation developed that would allow students to identify single unknown radionuclides based on physical properties and identify the constituent radionuclides of a mixe...
The processes and solutions are provided with real data and this practical activity can be replicated by students generating their own data....
This paper provides a template and analysis/interpretation guideline for educators and clinicians to deepen understanding of foundation physics. Enhanced and deeper understanding are a vehicle for imp...
Collaborative Problem Solving (CPS) is an intervention for reducing children's challenging behaviors. The aim of the present study was to evaluate the effects of family therapy using CPS in an outpati...
This research investigates whether thinking about the consequences of a problem being resolved can improve social problem-solving in clinical depression. We also explore whether impaired social proble...