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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"position": 12,
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{
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"name": "Les conseils génétiques sont-ils utiles ?",
"position": 13,
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{
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"position": 14,
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"position": 16,
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}
},
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"name": "Les suppléments de coenzyme Q10 sont-ils utiles ?",
"position": 17,
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}
},
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"@type": "Question",
"name": "Des médicaments sont-ils prescrits pour la cardiomyopathie ?",
"position": 18,
"acceptedAnswer": {
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"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": {
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"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" :
Decision-making in the real world involves multiple abilities. The main goal of the current study was to examine the abilities underlying the Preschool Gambling task (PGT), a preschool variant of the ...
This article briefly reviews a 4-step process for implementing shared decision-making (SDM) in pediatrics. The authors address difficulties with determining whether SDM should occur and comment on how...
Risk management decisions in public health require consideration of a number of complex, often conflicting factors. The aim of this review was to propose a set of 10 fundamental principles to guide ri...
A significant body of literature has identified how narrative provides a basis for perceiving and understanding human experience. In the target article, the authors arrive at the need for a form of na...
Care providers are frequently confronted with complicated questions about decision-making competence. This article offers tools to help them to deal with those questions. We also look closely at the u...
Medical futility is an ancient and yet consistent challenge in clinical medicine. The means of balancing conflicting priorities and stakeholders' preferences has changed as much as the science that po...
Decision making is vital in complex sporting tasks but is difficult to test and train. New technologies such as virtual and augmented reality offer novel opportunities for improving decision making, y...
Shared decision making (SDM) and advance care planning (ACP) are important evidence and ethics based concepts that can be translated in communication tools to aid the treatment decision-making process...
In order to assess how SDM and ACP is applied in usual care, we have performed a systematic literature review. The included studies have been analysed by means of thematic analysis as well as abductiv...
The search in Medline, Cinahl, Embase, Scopus, Web of science, Psychinfo and Cochrane revealed 15 studies. Eleven describe various steps of SDM while four studies discuss the documentation of goals of...
To be able to make informed choices about immediate and future care, patients should be engaged in both SDM and ACP decision-making processes. This allows for an iterative process in which each import...
Caregivers of children with medical complexity (CMC) face decisions about life-sustaining treatments (LST) like tracheostomy. We sought to develop a clinically relevant and realistic model for decisio...
This qualitative study, conducted between 2013 and 2015, consisted of 41 interviews with 56 caregivers of CMC who had received tracheostomies and 5 focus groups of 33 healthcare providers (HCPs) at a ...
Many factors influenced caregivers' decisions, including children's well-being and caregivers' values, faith, knowledge, experience, emotional state, and social factors; preserving the child's life wa...
CDM could be a useful model for clinicians guiding families about tracheostomy for CMC. The applicability of CDM for decision-making about other LSTs needs further exploration....
There is a great deal of uncertainty in the world. One common source of uncertainty results from incomplete or missing information about probabilistic outcomes (i.e., outcomes that may occur), which i...