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,
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{
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"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,
"acceptedAnswer": {
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"position": 15,
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{
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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": {
"@type": "Answer",
"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" :
The Dutch health care system fosters a strong public health sector offering accessible generalist care including generalist palliative care. General practitioners are well positioned to conduct ACP, f...
Electroconvulsive therapy (ECT) has a tumultuous history in the Netherlands. It was found to have particularly favorable results in patients with severe depression or catatonia. Inconvenient side effe...
In the Netherlands, many older people are moderately lonely, and about one in eleven is severely lonely. This prevalence is low compared to that in countries in Eastern and Southern Europe. Neverthele...
Identify patient experience and preference towards thrombopoietin-receptor agonists (TPO-RAs) in treatment of immune thrombocytopenia (ITP) in the Netherlands....
The Thrombopoietin-Receptor Agonist Patient experience (TRAPeze) survey used a discrete choice experiment (DCE) to elicit patient preferences and a patient burden survey (PBS) to evaluate the clinical...
Seventy-six respondents completed the DCE: treatment preference appeared to be driven by method of administration (odds ratio [OR] 4.33; 95% confidence interval [CI] 2.88-6.52), frequency of dosing (O...
Patients preferred therapies delivered orally, dosed less frequently and without food restrictions. QoL of ITP patients on TPO-RAs can be improved; the burden analyses presented can inform future effo...
Centronuclear myopathy (CNM) is a heterogeneous group of muscle disorders primarily characterized by muscle weakness and variable degrees of respiratory dysfunction caused by mutations in MTM1, DNM2, ...
Toxoplasmosis caused by the protozoan parasite...
Currently, there is a nationwide outbreak of Mycoplasma pneumoniae infections. M. pneumoniae is a bacterium that can cause atypical pneumonia, especially in children and young adults, and does not res...
We investigated occurrence of and risk factors for severe COVID-19 outcomes in people with HIV (PWH) in the Netherlands....
An ongoing prospective nationwide HIV cohort study....
COVID-19 diagnoses and outcomes with other relevant medical information were prospectively collected from electronic medical records in all HIV treatment centers in the Netherlands, from the start of ...
The cohort comprises 21 289 adult PWH, median age 51.2 years, 82% male, 70% were of Western origin, 12.0% were of sub-Saharan African and 12.6% Latin American/Caribbean origin, 96.8% had HIV-RNA less ...
In our national cohort of PWH, risk of severe COVID-19 outcomes was increased in individuals with uncontrolled HIV replication, low CD4 + cell count, and prior AIDS diagnosis, independently of general...
Adequate micronutrient intakes are essential for young children. Special young child formulae (YCF) intended for children from 1 year old are available in the Dutch market. Since YCF are enriched with...
Data from the Dutch National Food Consumption Survey (2012-2016; n = 440 children aged 1-2 year old) and the Dutch Food Composition Database (NEVO version 2016) were used to assess micronutrient intak...
In the Netherlands, YCF was consumed by 21% of the 1-2-year-olds. YCF contributed mostly to total vitamin D intake (76%) and between 0 and 50% for other micronutrients. Higher vitamin A, B1, C, D, E, ...
YCF increased micronutrient intake, however, for most of the micronutrients there is already a low risk of inadequate intake. YCF increased the risk of excessive zinc intake. It is important that the ...