questionsmedicales.fr
Maladies métaboliques et nutritionnelles
Maladies métaboliques
Erreurs innées du métabolisme
Erreurs innées du métabolisme des métaux
Maladie de Menkès
Maladie de Menkès : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Syndrome de Menkès
Diagnostic médical
Cheveux
Syndrome de Menkès
Retard de développement
Troubles neurologiques
Âge d'apparition
Syndrome de Menkès
Symptômes
5
Symptômes
Syndrome de Menkès
Troubles neurologiques
Hypotonie
Retard de croissance
Développement physique
Cheveux frisés
Syndrome de Menkès
Anomalies dentaires
Syndrome de Menkès
Prévention
5
Prévention
Dépistage génétique
Dépistage prénatal
Génétique
Tests génétiques
Syndrome de Menkès
Conseils génétiques
Syndrome de Menkès
Vaccinations
Prévention des infections
Traitements
5
Suppléments de cuivre
Traitement médical
Efficacité des traitements
Syndrome de Menkès
Thérapie physique
Développement moteur
Soins palliatifs
Syndrome de Menkès
Transfusions sanguines
Syndrome de Menkès
Complications
5
Complications
Troubles neurologiques
Vie quotidienne
Assistance
Mortalité
Syndrome de Menkès
Troubles du comportement
Syndrome de Menkès
Anomalies cardiaques
Syndrome de Menkès
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Sexe
Transmission génétique
Porteurs
Transmission génétique
Facteurs environnementaux
Syndrome de Menkès
Consanguinité
Transmission génétique
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"text": "Le diagnostic repose sur l'examen clinique, l'analyse des cheveux et des tests génétiques."
}
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{
"@type": "Question",
"name": "Quels tests génétiques sont utilisés ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests de séquençage de l'ADN peuvent identifier des mutations dans le gène ATP7A."
}
},
{
"@type": "Question",
"name": "Les analyses de cheveux sont-elles utiles ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elles montrent des anomalies typiques, comme des cheveux frisés et cassants."
}
},
{
"@type": "Question",
"name": "Quels signes cliniques indiquent cette maladie ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des retards de développement, des troubles neurologiques et des cheveux anormaux sont des indicateurs."
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{
"@type": "Question",
"name": "À quel âge se manifeste la maladie ?",
"position": 5,
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{
"@type": "Question",
"name": "Quels sont les symptômes principaux ?",
"position": 6,
"acceptedAnswer": {
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"@type": "Question",
"name": "Les problèmes neurologiques sont-ils fréquents ?",
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"position": 8,
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{
"@type": "Question",
"name": "Les cheveux sont-ils affectés ?",
"position": 9,
"acceptedAnswer": {
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"text": "Oui, ils sont souvent frisés, cassants et de couleur pâle, d'où le nom de la maladie."
}
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"@type": "Question",
"name": "Des problèmes dentaires sont-ils associés ?",
"position": 10,
"acceptedAnswer": {
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{
"@type": "Question",
"name": "Peut-on prévenir la maladie de Menkès ?",
"position": 11,
"acceptedAnswer": {
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"text": "La maladie étant génétique, il n'existe pas de prévention, mais un dépistage peut aider."
}
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{
"@type": "Question",
"name": "Le dépistage prénatal est-il possible ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le dépistage prénatal peut identifier des mutations génétiques chez le fœtus."
}
},
{
"@type": "Question",
"name": "Les parents porteurs peuvent-ils être testés ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests génétiques peuvent déterminer si les parents sont porteurs de la mutation."
}
},
{
"@type": "Question",
"name": "Des conseils génétiques sont-ils disponibles ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des conseils génétiques peuvent aider les familles à comprendre les risques."
}
},
{
"@type": "Question",
"name": "Les vaccinations sont-elles recommandées ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les vaccinations sont recommandées pour prévenir d'autres infections."
}
},
{
"@type": "Question",
"name": "Quel est le traitement principal ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement consiste en des suppléments de cuivre pour compenser le déficit."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils efficaces ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements peuvent améliorer certains symptômes, mais ne guérissent pas la maladie."
}
},
{
"@type": "Question",
"name": "Y a-t-il des thérapies complémentaires ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des thérapies physiques et occupationnelles peuvent aider au développement moteur."
}
},
{
"@type": "Question",
"name": "Les soins palliatifs sont-ils nécessaires ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des soins palliatifs peuvent être requis pour gérer les symptômes avancés."
}
},
{
"@type": "Question",
"name": "Les transfusions sanguines sont-elles utiles ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, les transfusions ne sont pas un traitement pour la maladie de Menkès."
}
},
{
"@type": "Question",
"name": "Quelles sont les complications possibles ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des troubles neurologiques graves et des problèmes de croissance."
}
},
{
"@type": "Question",
"name": "La maladie affecte-t-elle la vie quotidienne ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les patients peuvent avoir besoin d'assistance pour les activités quotidiennes."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de mortalité ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la maladie de Menkès peut réduire l'espérance de vie en raison de complications."
}
},
{
"@type": "Question",
"name": "Les troubles comportementaux sont-ils fréquents ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles du comportement peuvent survenir en raison de l'atteinte neurologique."
}
},
{
"@type": "Question",
"name": "Des problèmes cardiaques peuvent-ils se développer ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des anomalies cardiaques peuvent être associées à la maladie de Menkès."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque connus ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs de risque incluent des antécédents familiaux de la maladie et des mutations génétiques."
}
},
{
"@type": "Question",
"name": "La maladie est-elle plus fréquente chez certains sexes ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la maladie de Menkès affecte principalement les garçons en raison de son mode de transmission."
}
},
{
"@type": "Question",
"name": "Les parents porteurs sont-ils à risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les parents porteurs de mutations dans le gène ATP7A peuvent transmettre la maladie."
}
},
{
"@type": "Question",
"name": "Y a-t-il des facteurs environnementaux ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, aucun facteur environnemental n'est clairement associé à la maladie."
}
},
{
"@type": "Question",
"name": "Les consanguinités augmentent-elles le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les unions consanguines peuvent augmenter le risque de transmission de la maladie."
}
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}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 20/04/2025
Contenu vérifié selon les dernières recommandations médicales
3 publications dans cette catégorie
Affiliations :
Department of Pediatrics, School of Medicine, Teikyo University, Itabashi-ku, Tokyo 173-8606, Japan.
Graduate School of Health Sciences, Teikyo Heisei University, Toshima-ku, Tokyo 170-8445, Japan.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Radiology, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Pusan National University Children's Hospital, Yangsan, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Division of Pediatric Urology, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Division of Pediatric Urology, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Plastic and Reconstructive Surgery, Inonu University Medicine Faculty, Malatya, Turkey.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Orthopedic and Trauma Surgery, Malatya Educational Research Hospital, Malatya, Turkey.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Orthopedic and Trauma Surgery, Inonu University Medicine Faculty, Malatya, Turkey.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Orthopedic and Trauma Surgery, Inonu University Medicine Faculty, Malatya, Turkey. Electronic address: okaslanturk@hotmail.com.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, School of Medicine, Teikyo University, Itabashi-ku, Tokyo 173-8606, Japan.
Department of Research Unit, Faculty of Medicine, Toho University, Ota-ku, Tokyo 143-8540, Japan.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, School of Medicine, Teikyo University, Itabashi-ku, Tokyo 173-8606, Japan.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, School of Medicine, Teikyo University, Itabashi-ku, Tokyo 173-8606, Japan.
Publications dans "Maladie de Menkès" :
Interstitial lung diseases are associated with high morbitity and mortality. Rapid diagnosis in a qualified center is necessary in order to provide the best possible treatment. However, geographic dis...
We conducted a realist review of state-authorized dyslexia pilot projects to understand how they have been implemented and evaluated, and the extent to which they adhere to best practice recommendatio...
Increased noxious noise leads to adverse short-term and long-term effects on the growing neonate. The American Academy of Pediatrics recommends maintaining a noise level of less than 45 decibels (dBA)...
The purpose of this pilot project was to reduce the average noise levels by 39% at the end of an 11-week period....
The location of the project was in a large, high-acuity level IV open-pod layout NICU that consisted of 4 pods, one of which was cardiac-focused. The average baseline noise level in the cardiac pod wa...
At the end of the project, noise levels decreased from 62.6 dBA to 54 dBA, a 13.7% reduction....
At the end of this pilot project it was noted that: Online modules were the best way to educate staff. Parents should be included in the implementation of quality improvement. Healthcare providers nee...
Hospitalized patients after suicide attempts gave informed consent to a postvention project after discharge. A continuous caregiver contacted the subjects monthly by phone for a period of 1 year. In c...
Measuring the hypovolemic resuscitation end point remains a critical care challenge. Our project compared clinical hypovolemia (CH) with three diagnostic adjuncts: 1) noninvasive cardiac output monito...
Adult trauma/surgical intensive care unit patients were prospectively screened for suspected hypovolemia after acute resuscitation, excluding patients with burns, known heart failure, or severe liver/...
44 patients (62% male, median age 60) yielded 65 measures. Positive agreement with CH was 47% for NICOM, 37% for US-IVC and 10% for US-C. None of the three adjuncts correlated with CH (κ -0.045 to 0.0...
None of the adjunct measurements correlated with CH or each other, highlighting that fluid status assessment remains challenging in critical care. US should assess for right ventricular dysfunction pr...
People living with chronic disease should ideally engage with community-based exercise services following hospital-based rehabilitation. However, transition from hospital to community exercise setting...
The aims of this study were to develop and explore the feasibility of a pilot exercise referral pathway between an acute hospital and community gyms for patients with chronic health conditions and to ...
A stakeholder-informed exercise referral pathway was developed and offered to patients following completion of a hospital-based exercise programme for a chronic health condition. The pathway was evalu...
Forty-nine people living with chronic conditions (mean age 72 ± 7.8 years) participated (recruitment rate 59%). The average number of community gym visits over 4 months was 17.4 (range 0-51). Twenty-n...
A structured exercise referral pathway to support exercise transition between hospital and community settings in populations with chronic health conditions appears feasible. Participants reported high...
This manuscript offers findings from a pilot project which prepares nursing students for embodied professional practice through the lens of ethics. Four undergraduate nursing students were mentored by...
Chlamydia disproportionately affects individuals aged 15-24 years. A lack of chlamydia knowledge in this high-risk group likely contributes to decreased testing, but interventions to increase chlamydi...
A pre- and post-test design was used to evaluate participant knowledge of chlamydia before and after completing a nurse-developed web-based education intervention designed for university students....
Forty-seven undergraduate students at one U.S. university participated. A focus group and scientific evidence informed the development of the web-based education....
Participants had a significant increase in chlamydia knowledge after completing the online educational intervention (M = 8.0, SD = 0.000) compared to baseline (M = 6.5, SD = 1.5), t(33) = -5.821, p < ...
In the twenty-first century, health systems have to cope with the challenges posed by their rapidly changing environment. Among these changes, the emergence of digital health solutions is an opportuni...
This study is based on a survey of the dental care provided by three units (Oral Medicine, Periodontology, Orthodontics) of the Department of Community Dentistry, Semmelweis University, Budapest. Duri...
According to our findings, teledentistry has the potential to shorten the visit with an average of 5-10 min per patient, which adds up to 58-116 work hours in a year. If the pilot was rolled out to al...
The rapid development of digital health technologies coupled with the evolving task distribution between health professionals have a great potential to improve health system performance in pursuit of ...
Obesity is a chronic, multifactorial disease which is linked to a number of adverse endocrinological and metabolic conditions. Currently, bariatric surgery is one of the most effective treatments for ...