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": "La fatigue est-elle un symptôme fréquent ?",
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},
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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."
}
},
{
"@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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}
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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": {
"@type": "Answer",
"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 17/05/2025
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" :
This statement was written under the auspices of the World Gastroenterology Organization's Guidelines Committee. The authors are members of the Review Team of the WGO Endoscope Disinfection Guideline ...
BACKGROUND Simethicone can improve bowel preparation quality, but the optimal timing of oral simethicone before colonoscopy has not been determined. This study aimed to explore the effect of the time ...
During endoscopy, simethicone defoaming agents are commonly used to improve visualization, but they leave residues and impact drying. This clinical trial involved patients undergoing colonoscopy proce...
It is disputed about optimal bowel preparation for small bowel capsule endoscopy (SBCE). This meta-analysis aimed to investigate the role of simethicone in intestinal preparation for SBCE....
We searched four databases (PubMed, web of science, Embase, and Scopus databases) for relevant studies. Studies evaluating the effect of simethicone as an adjunct to SBCE bowel preparation were includ...
A total of 10 studies were included (8 RCTs, 1 prospective, and 1 retrospective study). Compared with the control group, the simethicone group showed significant improvements in the degree of gas bubb...
Simethicone for bowel preparation is useful to improve visualization and reduce the gas bubbling of SBCE....
Colonoscopy is the standard procedure for screening, and surveillance of colorectal cancer, including the treatment for colonic lesions. Colonic spasm is an important problem from colonoscopy that aff...
To investigate whether simethicone expediates the remission of abdominal distension after laparoscopic cholecystectomy (LC)....
This retrospective study involved LC patients who either received perioperative simethicone treatment or not. Propensity score matching (PSM) was employed to minimize bias. The primary endpoint was th...
A total of 1,286 patients were divided into simethicone (n = 811) and non-simethicone groups (n = 475) as 2:1 PSM. The patients receiving simethicone had better remission rates of abdominal distension...
Simethicone administration significantly enhanced the early remission of post-LC abdominal distension, particularly for patients who had gallstones, cholecystic polyp, prolonged anesthesia or preopera...
ChiCTR2200064964 (24/10/2022)....
This study aimed to assess the impact of adding pancreatin (a pancreatic enzyme derivative) to standard treatment on patients diagnosed with Irritable Bowel Syndrome (IBS) and Type 2 Diabetes Mellitus...
Efficient bowel preparation is essential for preventing colorectal cancer by improving endoscopic adenoma detection. Tablet for bowel preparation containing sulfate salts, OSTs (oral sulfate tablets),...
We performed a propensity score-matched (PSM) analysis of consecutive adult patients undergoing colonoscopy who received PEG-AA or OSTs prior to colonoscopy at a tertiary academic hospital. The endosc...
Among 992 patients included in the study, 770 and 222 patients received PEG-AA and OSTs, respectively. Among the propensity score-matched population (n = 1897), OSTs resulted in better bowel cleansing...
OSTs with simethicone achieved better endoscopic cleanliness, improving adenoma detection rate compared to the conventional PEG-AA protocol. The synergistic effect of both the convenience of taking ta...
Tebipenem pivoxil hydrobromide (TBP-PI-HBr) is a novel oral carbapenem prodrug being developed for the treatment of serious bacterial infections. This open-label, 3-period, fixed sequence study evalua...
To assess the effect of simethicone, a defoaming agent, on improving visibility during drug-induced sleep endoscopy (DISE) in obstructive sleep apnea (OSA)....
The study was a retrospective case-series study on patients with OSA who failed positive airway pressure (PAP) treatment. Patient parameters were recorded including age, BMI, neck and abdominal circum...
Simethicone significantly improved DISE visibility (p = 0.03). "Best visibility" was achieved in 55% of cases with simethicone compared to 27% without simethicone (p = 0.02). Sub-analysis showed that ...
The findings suggest that simethicone enhances DISE visibility for OSA surgical planning. Further research should explore optimizing simethicone administration timing and the potential clinical implic...