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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"@type": "Question",
"name": "Comment diagnostique-t-on la maladie de Menkès ?",
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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": {
"@type": "Answer",
"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": {
"@type": "Answer",
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"@type": "Question",
"name": "Peut-on prévenir la maladie de Menkès ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"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" :
In 2021, Nigeria developed a novel Electronic Management of Immunization Data (EMID) system to address COVID-19 data management challenges and ensure the successful implementation of its COVID-19 vacc...
Multilayered stakeholder interviews were conducted to determine the optimal functionality requirements for the EMID system. Based on these findings, an optimization plan was designed and implemented t...
The integrated system currently provides an opportunity to address data fragmentation and strengthen PHC service delivery in Nigeria. By allowing 1 health care worker to deliver both vaccinations, the...
The journey from the initial challenges faced by the EMID system to the development of an integrated system for PHC services in Nigeria has been a transformative one. Through a thorough optimization p...
MR imaging plays a key role in the characterization of adnexal lesions of indeterminate malignant potential found at ultrasound. Recently, the Ovarian-Adnexal Reporting and Data Systems (O-RADS) MRI l...
Most countries in Africa deployed digital solutions to monitor progress in rolling out COVID-19 vaccines. A rapid assessment of existing data systems for COVID-19 vaccines in the African region was co...
Wireless sensor networks are widely used in sports training, medical and health care, smart home, environmental monitoring, cloud data and other fields because of their large scale, self-organization,...
Lacrimators are used by individuals for personal defense and by police for crowd control during periods of civil unrest. Increased public awareness about their use has raised concerns about their appl...
To characterize patterns of lacrimator exposures in the United States, we describe temporal trends of calls to poison centers by demographics, substances, medical outcomes, exposure sites, and scenari...
A retrospective data analysis was performed for all single-substance lacrimator exposures in the United States reported to the National Poison Data System between 2000 and 2021. Descriptive analyses w...
A total of 107,149 lacrimator exposure calls were identified. There was an overall decrease in calls per year, from 6,521 calls in 2000 to 2,520 in 2020, followed by an increase to 3,311 calls in 2021...
Lacrimator exposure calls to United States poison centers decreased from 2000 to 2021. Most calls pertain to oleoresin capsicum and individuals ages 19 and younger. Improper storage allowing children ...
Young workers (aged 15-24 years) experience higher rates of job-related injury compared with workers aged 25-44 years in the United States. Young workers may have limited or no prior work experience o...
To describe injury patterns among Alaska young workers from 2014-2018, we used data from four datasets: Alaska Workers' Compensation, Alaska Occupational Injury Surveillance System, Alaska Trauma Regi...
During the 5-year study period 2014-2018, young workers experienced 20 fatal and 12,886 nonfatal injuries. Residents of Alaska comprised 85% of nonfatal and 70% of fatal injuries. The top three major ...
Although progress has been made in reducing worker injuries, Alaskan young workers still experience injuries and fatalities frequently. Based on findings, there is a clear need for employers, research...
An essential part of providing high-quality patient care and a means of efficiently conducting research studies relies upon high-quality routinely collected medical information....
To describe the registers, paper records and databases used in a sample of primary healthcare clinics in South Africa (SA) with the view to conduct an impact evaluation using routine data....
Between October 2015 and December 2015, we collected information on the presence, quality and completeness of registers, clinical stationery and databases at 24 public health facilities in SA. We desc...
We identified 13 registers (9 standard, 4 non-standard), 5 types of stationery and 4 databases as sources of medical information within a site. Not all clinics used all the standardised registers, and...
Registers, databases and clinical stationery were not implemented or completed consistently across the 24 evaluation sites. For those considering using routinely collected data for research and evalua...
The aims of this study were to develop the Ovarian-Adnexa Reporting and Data System (O-RADS) and O-RADS + contrast-enhanced ultrasound (O-RADS CEUS) scoring system to distinguish adnexal masses (AMs) ...
We retrospectively evaluated 278 ovarian masses from 240 patients between May 2017 and July 2022. Pathology and adequate follow-up were used as reference standards for comparing the validity of O-RADS...
The AUCs of O-RADS, O-RADS CEUS and ADNEX MR scores were 0.928 (95% confidence interval [CI]: 0.895-0.956), 0.951(95% CI: 0.919-0.973) and 0.964 (95% CI: 0.935-0.983), respectively. Their sensitivitie...
The addition of CEUS significantly improves the efficacy of O-RADS in diagnosing AMs. The diagnostic efficacy of the combination is comparable to that of the ADNEX MR scoring system....
To examine the clinical outcomes of topical lidocaine exposures in pediatric patients reported to the National Poison Data System (NPDS). We performed a retrospective review of the NPDS in pediatric p...
To compare the diagnostic efficacy of the Chinese Thyroid Imaging Reporting and Data Systems (C-TIRADS) with the well-accepted ACR-TIRADS guidelines in identifying benign from malignant thyroid nodule...
A total of 2064 nodules were collected from 1627 patients undergoing thyroid ultrasonography in our center between October 2019 and November 2021. Nodules were divided into two groups: "≥1 cm" and "<1...
The area under the curve of the ACR-TIRADS guideline was higher than that of the C-TIRADS guideline (0.922, P = 0.017), the specificity and positive predictive value of the C-TIRADS guideline were hig...
There was high agreement between the two guidelines for the diagnosis of thyroid nodules, C-TIRADS guidelines had a higher specificity and simplicity while were inferior to the ACR-TIRADS guidelines i...