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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"text": "Oui, ils aident les familles à comprendre les risques de transmission."
}
},
{
"@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,
"acceptedAnswer": {
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}
},
{
"@type": "Question",
"name": "Les suppléments de coenzyme Q10 sont-ils utiles ?",
"position": 17,
"acceptedAnswer": {
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"text": "Oui, ils peuvent aider à améliorer la fonction mitochondriale."
}
},
{
"@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" :
Since the release of the contrastive language-image pre-training (CLIP) model designed by the OpenAI team, it has been applied in several fields owing to its high accuracy. Sleep staging is an importa...
Obstructive sleep apnea (OSA) is associated with polycystic ovarian syndrome (PCOS), a common cause of infertility. Understanding predictors and outcomes of OSA in women with infertility may guide tre...
A descriptive cross-sectional survey was performed to assess OSA in women presenting to an infertility clinic using validated sleep questionnaires to assess sleep and fertility outcomes. An Infertile-...
In 258 women, occurrences of OSA diagnosis (6%) and RLS (10%) were reported similar to women of child-bearing age in the general population. PCOS was unassociated with OSA risk. Predictors of OSA risk...
Similar to other populations, women with infertility and OSA risk have more health comorbidities and higher BMI and may present with insomnia symptoms. While the data are limited, this study supports ...
Tandem Control-IQ is an advanced hybrid closed loop (AHCL) system with a Sleep Activity Mode to intensify glycemic control overnight. The aim of the study is to evaluate the effectiveness of using Sle...
We performed a retrospective Tandem Control-IQ data download for patients followed at IRCCS G. Gaslini Pediatric Diabetes Centre. We divided the patients into group 1 (Sleep Mode users) and group 2 (n...
Group 1 (...
This is the first study that evaluates the real-life effectiveness of the use of Sleep Mode in young patients with T1D. Control-IQ Sleep Activity Mode may not be as effective in Italian patients as in...
To investigate sleep quality in juvenile fibromyalgia syndrome (JFS) and its effect on the global burden of the disease....
Consecutive patients with JFS who performed full-night polysomnography (PSG) were included in this cross-sectional study. JFS-related symptoms, neuropsychiatric features, and sleep quality were assess...
We included 25 patients (20 females, median age 15.7 yrs). Nonrestorative sleep was reported by 22 of 25 (88%) patients. Patients with JFS showed significantly longer sleep period time (...
Sleep complaints are a key hallmark of JFS and have significant effect on relevant clinical domains of the disease, such as pain and depression....
Sleep fragmentation determined by repetitive arousals from sleep in obstructive sleep apnea (OSA) is associated with hypertension. We aimed to quantify the independent association of arousals during r...
We included adults with 4 h of total sleep time and at least 30 min of REM sleep obtained from overnight in-laboratory polysomnography. Logistic regression models were fitted to explore the associatio...
The sample comprised of 11 643 patients, of which 10 055 were OSA patients. Fully adjusted models demonstrated significant dose-relationships between arousal index during REM sleep (AI-REM) and preval...
Our findings indicate that arousals during REM sleep are associated with prevalent hypertension. This is clinically relevant because treatment of OSA is often limited to the first half of the sleep pe...
Although many people suffer from sleep disorders, most are undiagnosed, leading to impairments in health. The existing polysomnography method is not easily accessible; it's costly, burdensome to patie...
Current evidence points to the importance of sleep for adolescent physical and mental health. To date, most studies have examined the association between sleep duration/quality and health in adolescen...
Almost one billion people worldwide are affected by Obstructive Sleep Apnea (OSA). Affected individuals experience disordered breathing patterns during sleep, which results in fatigue, daytime drowsin...
Patient-generated health data are important in the management of several diseases. Although there are limitations, information can be obtained using a wearable device and time-related information such...
To effectively use patient-generated health data related to time such as sleep, it is first necessary to understand the characteristics of the time response recorded by the user. Therefore, the aim of...
Sleep data were acquired for 2 weeks using a Fitbit. Participants' sleep records were collected daily through chatbot conversations while wearing the Fitbit, and the two sets of data were statisticall...
In total, 736 people aged 30-59 years were recruited for this study, and the sleep data of 543 people who wore a Fitbit and responded to the chatbot for more than 7 days on the same day were analyzed....
The chatbot sleep response and Fitbit measured time were similar on average and the study participants had a slight tendency to perceive a relatively long sleep time if the quality of sleep was self-r...
Depression, poor sleep duration and low self-efficacy are common in mothers of children with sleep problems. However, research rarely extends beyond the postpartum period. This study investigated the ...