Titre : Syndrome de Kearns-Sayre

Syndrome de Kearns-Sayre : Questions médicales fréquentes

Termes MeSH sélectionnés :

Educational Status

Questions fréquentes et termes MeSH associés

Diagnostic 5

#1

Comment diagnostique-t-on le syndrome de Kearns-Sayre ?

Le diagnostic repose sur l'examen clinique, l'IRM et des tests génétiques.
Syndrome de Kearns-Sayre Diagnostic médical
#2

Quels tests génétiques sont utilisés ?

Des tests pour détecter des mutations dans l'ADN mitochondrial sont effectués.
ADN mitochondrial Tests génétiques
#3

Quels signes cliniques sont observés ?

Ophtalmoplégie, troubles cardiaques et anomalies neurologiques sont typiques.
Ophtalmoplégie Troubles neurologiques
#4

L'électrocardiogramme est-il utile ?

Oui, il peut montrer des anomalies cardiaques associées au syndrome.
Électrocardiogramme Cardiomyopathie
#5

Les biopsies musculaires sont-elles nécessaires ?

Elles peuvent être réalisées pour détecter des anomalies mitochondriales.
Biopsie musculaire Anomalies mitochondriales

Symptômes 5

#1

Quels sont les symptômes principaux ?

Ophtalmoplégie, cardiomyopathie, surdité et troubles neurologiques.
Symptômes Cardiomyopathie
#2

La fatigue est-elle un symptôme fréquent ?

Oui, la fatigue chronique est courante chez les patients atteints.
Fatigue Syndrome de Kearns-Sayre
#3

Y a-t-il des problèmes de vision ?

Oui, des troubles visuels comme la ptose et la rétinopathie peuvent survenir.
Troubles visuels Rétinopathie
#4

Les troubles de l'équilibre sont-ils possibles ?

Oui, des problèmes d'équilibre et de coordination peuvent se manifester.
Troubles de l'équilibre Coordination
#5

Les patients peuvent-ils avoir des douleurs musculaires ?

Oui, des douleurs musculaires et des crampes sont souvent rapportées.
Douleurs musculaires Crampes

Prévention 5

#1

Peut-on prévenir le syndrome de Kearns-Sayre ?

Il n'existe pas de méthode de prévention, car c'est une maladie génétique.
Prévention Maladie génétique
#2

Les tests génétiques peuvent-ils aider ?

Oui, ils peuvent identifier les porteurs et informer les familles.
Tests génétiques Portage génétique
#3

Les conseils génétiques sont-ils utiles ?

Oui, ils aident les familles à comprendre les risques de transmission.
Conseils génétiques Transmission génétique
#4

Les femmes enceintes doivent-elles être testées ?

Si des antécédents familiaux existent, un test peut être recommandé.
Antécédents familiaux Tests prénataux
#5

Y a-t-il des recommandations pour les familles ?

Oui, des conseils sur la gestion des symptômes et le soutien psychologique.
Soutien psychologique Gestion des symptômes

Traitements 5

#1

Quel est le traitement principal du syndrome ?

Il n'existe pas de traitement curatif, mais des soins symptomatiques sont offerts.
Traitement symptomatique Syndrome de Kearns-Sayre
#2

Les suppléments de coenzyme Q10 sont-ils utiles ?

Oui, ils peuvent aider à améliorer la fonction mitochondriale.
Coenzyme Q10 Fonction mitochondriale
#3

Des médicaments sont-ils prescrits pour la cardiomyopathie ?

Oui, des médicaments comme les bêtabloquants peuvent être utilisés.
Cardiomyopathie Bêtabloquants
#4

La physiothérapie est-elle recommandée ?

Oui, la physiothérapie peut aider à améliorer la force et la mobilité.
Physiothérapie Mobilité
#5

Y a-t-il des traitements pour les troubles de la vision ?

Des aides visuelles et des interventions chirurgicales peuvent être envisagées.
Aides visuelles Interventions chirurgicales

Complications 5

#1

Quelles sont les complications possibles ?

Les complications incluent l'insuffisance cardiaque et des troubles neurologiques.
Insuffisance cardiaque Troubles neurologiques
#2

Le syndrome peut-il affecter la qualité de vie ?

Oui, les symptômes peuvent gravement impacter la qualité de vie des patients.
Qualité de vie Syndrome de Kearns-Sayre
#3

Y a-t-il un risque accru de diabète ?

Oui, certains patients peuvent développer un diabète de type 2.
Diabète Syndrome de Kearns-Sayre
#4

Les troubles de la mémoire sont-ils fréquents ?

Oui, des troubles cognitifs et de la mémoire peuvent survenir.
Troubles cognitifs Mémoire
#5

Les patients sont-ils à risque d'infections ?

Oui, une immunité affaiblie peut augmenter le risque d'infections.
Infections Immunité

Facteurs de risque 5

#1

Quels sont les facteurs de risque connus ?

Les antécédents familiaux de maladies mitochondriales sont un facteur de risque.
Antécédents familiaux Maladies mitochondriales
#2

Le sexe influence-t-il le risque ?

Non, le syndrome affecte les hommes et les femmes de manière égale.
Sexe Syndrome de Kearns-Sayre
#3

L'âge d'apparition est-il variable ?

Oui, les symptômes peuvent apparaître entre l'enfance et l'âge adulte.
Âge d'apparition Syndrome de Kearns-Sayre
#4

Les facteurs environnementaux jouent-ils un rôle ?

Actuellement, il n'y a pas de preuves solides sur l'influence environnementale.
Facteurs environnementaux Syndrome de Kearns-Sayre
#5

Les mutations génétiques sont-elles héréditaires ?

Oui, les mutations peuvent être transmises par la mère à l'enfant.
Mutations génétiques Transmission héréditaire
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"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." } } ] } ] }
Dr Olivier Menir

Contenu validé par Dr Olivier Menir

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

Auteurs principaux

Diego Martinelli

3 publications dans cette catégorie

Affiliations :
  • Division of Metabolism, IRCCS Bambino Gesù Children's Hospital, 00165, Rome, Italy.
Publications dans "Syndrome de Kearns-Sayre" :

Glen Lester Sequiera

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.

Abhay Srivastava

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.

Keshav Narayan Alagarsamy

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.

Cheryl Rockman-Greenberg

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.

Sanjiv Dhingra

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.

Ndausung Udongwo

2 publications dans cette catégorie

Affiliations :
  • Internal Medicine, Jersey Shore University Medical Center, Neptune, USA.

Dhairya Gor

2 publications dans cette catégorie

Affiliations :
  • Internal Medicine, Jersey Shore University Medical Center, Neptune, USA.

Kyle Wiseman

2 publications dans cette catégorie

Affiliations :
  • Internal Medicine, Jersey Shore University Medical Center, Neptune, USA.

Abbas Alshami

2 publications dans cette catégorie

Affiliations :
  • Internal Medicine, Jersey Shore University Medical Center, Neptune, USA.

Luca Pasquini

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.

Maria Camilla Rossi-Espagnet

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.

Antonio Napolitano

2 publications dans cette catégorie

Affiliations :
  • Medical Physics Department, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.

Daria Diodato

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.

Daniela Longo

2 publications dans cette catégorie

Affiliations :
  • Neuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, P.zza Sant'Onofrio 4, 00165, Rome, Italy.

Mazyar Yazdani

2 publications dans cette catégorie

Affiliations :
  • Department of Medical Biochemistry, Oslo University Hospital, Rikshospitalet, Oslo, 0027, Norway. mazyar.yazdani.edu@gmail.com.

Leen Alblaihed

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" :

Maite Anna Huis In 't Veld

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" :

Yehuda Shoenfeld

2 publications dans cette catégorie

Affiliations :
  • Zabludowicz Center for Autoimmune Diseases, Chaim Sheba Medical Center, Tel-Hashomer 5265601, Ramat-Gan; Reichmann University, Herzliya, Israel.

Jenna Tauber

1 publication dans cette catégorie

Affiliations :
  • New York University School of Medicine, New York, New York.
Publications dans "Syndrome de Kearns-Sayre" :

Sources (10000 au total)

Educational preferences in individuals with cardiometabolic disease differs with age, ethnicity and educational status.

To evaluate how sociodemographic factors influence educational modality preferences in people with cardiometabolic disease.... This was a cross-sectional study performed in people with diabetes and cardiovascular disease, who completed a questionnaire to denote their previous experience and ranked preferences for different ed... The questionnaire was completed by 3751 people, of whom 59% were men, median (interquartile range) age was 68 (59-76) years, and 78% were White European. In total, 73% had diabetes, 35% had heart dise... We highlight the importance of considering factors that could influence selection of educational modalities including age, ethnicity, gender and educational level. We anticipate this approach will aid... Given the influence of multiple demographic factors and previous experiences on expressed preferences, providers should support individuals to make informed decisions about educational interventions t...

Immigration Status, Educational Level, and Perceived Discrimination in Europe.

Multiple studies have been conducted to test the moderating effect of immigration on the positive health results yielded through educational attainment. However, no study has been conducted to examine... We aimed to study whether an inverse association exists between educational level and perceived discrimination in European countries and whether immigration status moderates the association between ed... Data from the 10th round of the cross-sectional European Social Survey (ESS) were used in this cross-sectional study. A total of 17,596 participants between 15-90 years old who lived in European count... Of 17,596 participants, 16,632 (94.5%) were native-born and 964 were immigrants (5.5%). We found that higher levels of educational level were protective against perceived discrimination, which was als... This study found that educational level was a protective factor against perceived discrimination. This effect, however, was more robust in the native-born participants than in their immigrant counterp...

Children oral health and parents education status: a cross sectional study.

Oral diseases are common and affect millions of people worldwide. They can range from mild and easily treatable conditions to more severe and serious diseases. Proper oral hygiene and regular dental m... We enrolled consecutively healthy subjects aged between 0-16 and their parents at the Dental Clinic of the University of Campania "L. Vanvitelli". The Italian version of the ECOHIS (I-ECOHIS) was admi... We found a significative association of a higher I-ECOHIS total score (coeff. 4.04244; CI 95%: 1.530855-6.554026; p = 0,002) and higher I-ECOHIS children section score (coeff. 3.2794; CI 95%: 1.29002-... Father unemployed status and a lower educational level for both parents may negatively affect oral health status....

The association between educational status and colorectal neoplasia: results from a screening cohort.

Educational status is used as a proxy for socioeconomic status. While lower levels of education are generally associated with poorer health, the data on the relationship between educational status and... We included 5977 participants undergoing a screening colonoscopy in Austria. We split the cohort into patients with lower (n = 2156), medium (n = 2933), and higher (n = 459) educational status. Multiv... We found that the rates of any neoplasia (32%) were similar between the educational strata. However, patients with higher (10%) educational status evidenced significantly higher rates of advanced colo... Our study found that higher educational status was associated with a higher prevalence of advanced colorectal neoplasia compared to medium and lower educational status. This finding remained significa...

Healthy and Respectful Relationship Education: Differences by Disability Status and Associations With Sexual Abuse.

Education about healthy and respectful relationships (HRR) is a key component of comprehensive sexual health curricula and is supposed to be universally provided in Oregon. This study: (1) assesses th... Using data from the 2019 Oregon Healthy Teens survey, we conducted multivariable Poisson regression to compare 11th grade students with and without disabilities on self-reported receipt of school base... Students with disabilities were 41% more likely than students without disabilities to say they had never been taught in school about HRR (adjusted prevalence ratio 1.41, 95% confidence interval: 1.25-... Students with disabilities are less likely to have received school-based HRR education than their peers without disabilities. Providing inclusive HRR education may help reduce risk of sexual abuse and...

Health and health behaviours in adolescence as predictors of education and socioeconomic status in adulthood - a longitudinal study.

The positive association of health with education level and socioeconomic status (SES) is well-established. Two theoretical frameworks have been delineated to understand main mechanisms leading to soc... Surveys on health and health behaviours were sent to representative samples of 12-18-year-old Finns in 1981-1997 every second year (response rate 77.8%, N = 55,682). The survey data were linked with t... In logistic regression analyses, good health, health-enhancing behaviours, and lack of health-compromising behaviours were related to higher education and SES, also after controlling for family backgr... Health and health behaviours in adolescence predicted education and SES in adulthood. Even though the relationships were modest, they support the health selection hypotheses and emphasise the importan...

[Extremely preterm infants with severe intraventricular hemorrhage: neurological evolution and long term and educational status].

Extensive intraventricular hemorrhage (IVH) in very preterm newborns (VPNB) is associated with mortality and severe long-term neurological sequelae.... To know the most frequent neurological pathologies associated with extensive IVH, to determine the functional outcomes of mobility in the motor area and intellectual capacity in the cognitive area, to... Descriptive and longitudinal study in VPNB with extensive IVH born between 2001 and 2014. They underwent protocolized neurological follow-up until school age. The functional outcomes in mobility and i... 74 children completed the follow-up; the most frequent associated neurological pathologies were neurodevelopmental disorders, hypertensive hydrocephalus, and epilepsy. Independent mobility (normal or ... 2/3 VPNB with extensive IVH showed positive functional outcomes, from normal to mild limitations that allow an almost autonomous life; in 1/3 the outcomes were unfavorable in mobility and cognitive pe...