Titre : Syndrome de Kearns-Sayre

Syndrome de Kearns-Sayre : Questions médicales fréquentes

Termes MeSH sélectionnés :

Focus Groups

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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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)

Adolescent boys' experiences of stress - a focus group study.

The number of adolescents reporting that they are stressed has more than doubled among both boys and girls. Most focus is given to girls because they typically not only report higher levels of stress ... Eight focus groups were conducted with 39 adolescent boys aged 12-19 years enrolled in four schools in southern Sweden. The data was analysed inductively with conventional content analysis.... The analysis resulted in three categories: Stress perception - time as a key factor, Identifying stressors and levels of stress, and Silent struggles and distractions. The boys had experienced conside... Adolescent boys might need assistance in identifying stress and clearly voicing their specific concerns. They should also be provided with spaces that are free from stigmatization and judgement. Paren...

Focus group in the development of concepts for a Nursing model: experience report.

To communicate the experience of developing concepts for the construction of a care model through focus groups.... An experience report on the development of concepts through remote focus groups with members of a research group from a public university in southern Brazil.... Focus groups were developed in which homogeneity and heterogeneity criteria were observed among participants. In addition to the concepts of the nursing metaparadigm, the concepts of care and family-c... Despite the challenges of conducting remote focus groups, they were suitable for the collective construction of concepts for a nursing care model, allowing the interaction of participants from differe...

Swedish women's experiences of menopausal transition: A focus group study.

The aim of this study was to examine women's experience of menopausal transition and their expectations and wishes for support from healthcare. Further, to examine their knowledge about menopause and ... Data was collected through three focus group interviews with 14 women experiencing menopausal symptoms. The qualitative analysis was transacted through systematic text condensation, where categories w... The women in this study told us about being inadequately prepared for menopause through having insufficient knowledge of the menopausal transition. They experienced lack of clarity about where in the ... This work indicates that women want more and improved information about menopause in order to be better prepared. Advice and treatment for menopausal healthcare care should be easily accessible for wo...

GPs' experiences of the COVID-19 pandemic - a focus group study.

The working day of Norwegian GPs was turned on its head during the COVID-19 pandemic due to the extreme, ongoing pressure the GP service was under. We conducted a qualitative study of the GPs' percept... Focus group interviews were conducted with 19 GPs from four medical practices in the county of Innlandet. The interviews were analysed using the systematic text condensation method.... The GPs described how they have coped with the extremely challenging demands on them. They expressed an expectation of rapid adaptability, and considered this a fundamental characteristic of the role ... The GP service's adaptability during times of crisis depends on the GPs' strong individual and collective sense of responsibility and their ability to cope. The latter is the GP service's great streng...

Interdisciplinary education affects student learning: a focus group study.

In order to best prepare medical students for their increasingly complex future career, interdisciplinary higher education is swiftly gaining popularity. However, the implementation of interdisciplina... We conducted four semi-structured focus group interviews, of which two were held before, and two were held after the course. Seven MS and six CISS participated voluntarily. A pre-arranged interview gu... The focus group interviews revealed three differences in epistemics between students in terms of 1) curriculum content, 2) educational formats and 3) student's competence perceptions. These factors in... We conclude that factors that influence interdisciplinary learning are personal epistemics, individual learning preferences, and the synergy that is achieved throughout interdisciplinary learning. Org...

Cancer care coordination in rural Hawaii: a focus group study.

Rural populations consistently experience a disproportionate burden of cancer, including higher incidence and mortality rates, compared to the urban populations. Factors that are thought to contribute... We conducted two semi-structured focus group interviews with cancer patients receiving active treatment for any type of cancer (n = 8). The participants were recruited from the rural areas of Hawaii, ... Content analysis revealed that 47% of the discussions were related to CC-related challenges, including access to care (27.3%), insurance (9.1%), inter-island travel (6.1%), and medical literacy (4.5%)... Our findings indicate that there are notable challenges in rural patients' experiences regarding their cancer care coordination. Specific factors such as the lack of oncologist and oncology services, ... Not required....

Interprofessional collaboration in a community virtual ward: A focus group study.

The problem of a lack of nurses is expected to worsen in the future. With an ever-increasing number of elderly patients with multimorbidity and a shortage of healthcare professionals, primary care mus... The aim of the study was to explore healthcare professionals' experiences of interprofessional collaboration in care for patients with multimorbidity in a community virtual ward in the Norwegian conte... Focus group interviews were conducted in this qualitative exploratory study. A purposive sample of 17 healthcare professionals working in a community virtual ward in Norway was interviewed. Data were ... The study results show that healthcare professionals recognise a need for patient involvement in the community virtual ward to offer more sustainable healthcare services at home. Furthermore, the resu... We found that interprofessional collaboration in community virtual wards may be a sustainable way of organising healthcare services for patients with multimorbidity living at home. Interprofessional c...

Motivators of becoming and staying a neurosurgeon in the Netherlands: a survey and focus group.

The aim of this study was to gain insight in motivators and demotivators of the Dutch neurosurgical residents and neurosurgeons.... A mixed method study was conducted. A survey was sent by the Dutch Neurosurgical Society to all Dutch neurosurgeons and residents in the framework of the yearly national quality conference. The focus ... The survey yielded a response rate of 47.3% of neurosurgeons and 72.5% of residents. 42.5% of residents participated in the focus groups. Overall, motivators according to residents and neurosurgeons w... Neurosurgeons and residents in neurosurgery are mostly motivated by intrinsic motivators. Factors such as administrative burden, less perceived respect from patients and society, and increase in non-p...