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
{
"@context": "https://schema.org",
"@graph": [
{
"@type": "MedicalWebPage",
"name": "Maladie de Menkès : Questions médicales les plus fréquentes",
"headline": "Maladie de Menkès : Comprendre les symptômes, diagnostics et traitements",
"description": "Guide complet et accessible sur les Maladie de Menkès : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.",
"datePublished": "2024-01-26",
"dateModified": "2025-04-20",
"inLanguage": "fr",
"medicalAudience": [
{
"@type": "MedicalAudience",
"name": "Grand public",
"audienceType": "Patient",
"healthCondition": {
"@type": "MedicalCondition",
"name": "Maladie de Menkès"
},
"suggestedMinAge": 18,
"suggestedGender": "unisex"
},
{
"@type": "MedicalAudience",
"name": "Médecins",
"audienceType": "Physician",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "France"
}
},
{
"@type": "MedicalAudience",
"name": "Chercheurs",
"audienceType": "Researcher",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "International"
}
}
],
"reviewedBy": {
"@type": "Person",
"name": "Dr Olivier Menir",
"jobTitle": "Expert en Médecine",
"description": "Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale",
"url": "/static/pages/docteur-olivier-menir.html",
"alumniOf": {
"@type": "EducationalOrganization",
"name": "Université Paris Descartes"
}
},
"isPartOf": {
"@type": "MedicalWebPage",
"name": "Erreurs innées du métabolisme des métaux",
"url": "https://questionsmedicales.fr/mesh/D008664",
"about": {
"@type": "MedicalCondition",
"name": "Erreurs innées du métabolisme des métaux",
"code": {
"@type": "MedicalCode",
"code": "D008664",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "C18.452.648.618"
}
}
},
"about": {
"@type": "MedicalCondition",
"name": "Maladie de Menkès",
"alternateName": "Menkes Kinky Hair Syndrome",
"code": {
"@type": "MedicalCode",
"code": "D007706",
"codingSystem": "MeSH"
}
},
"author": [
{
"@type": "Person",
"name": "Hiroko Kodama",
"url": "https://questionsmedicales.fr/author/Hiroko%20Kodama",
"affiliation": {
"@type": "Organization",
"name": "Department of Pediatrics, School of Medicine, Teikyo University, Itabashi-ku, Tokyo 173-8606, Japan."
}
},
{
"@type": "Person",
"name": "Mi Young Kim",
"url": "https://questionsmedicales.fr/author/Mi%20Young%20Kim",
"affiliation": {
"@type": "Organization",
"name": "Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea."
}
},
{
"@type": "Person",
"name": "Ji Hyun Kim",
"url": "https://questionsmedicales.fr/author/Ji%20Hyun%20Kim",
"affiliation": {
"@type": "Organization",
"name": "Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea."
}
},
{
"@type": "Person",
"name": "Myung Hyun Cho",
"url": "https://questionsmedicales.fr/author/Myung%20Hyun%20Cho",
"affiliation": {
"@type": "Organization",
"name": "Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea."
}
},
{
"@type": "Person",
"name": "Young Hun Choi",
"url": "https://questionsmedicales.fr/author/Young%20Hun%20Choi",
"affiliation": {
"@type": "Organization",
"name": "Department of Radiology, Seoul National University Children's Hospital, Seoul, Korea."
}
}
],
"citation": [
{
"@type": "ScholarlyArticle",
"name": "Effective data quality management for electronic medical record data using SMART DATA.",
"datePublished": "2023-10-12",
"url": "https://questionsmedicales.fr/article/37871445",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1016/j.ijmedinf.2023.105262"
}
},
{
"@type": "ScholarlyArticle",
"name": "Over-interpretation of findings in diagnostic accuracy studies of infectious diseases.",
"datePublished": "2023-03-15",
"url": "https://questionsmedicales.fr/article/36925106",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1016/j.cmi.2023.03.006"
}
},
{
"@type": "ScholarlyArticle",
"name": "The IeDEA harmonist data toolkit: A data quality and data sharing solution for a global HIV research consortium.",
"datePublished": "2022-06-06",
"url": "https://questionsmedicales.fr/article/35680074",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1016/j.jbi.2022.104110"
}
},
{
"@type": "ScholarlyArticle",
"name": "[Not all published data are reliable: fabricated data in medical research].",
"datePublished": "2024-05-22",
"url": "https://questionsmedicales.fr/article/38780192",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": null
}
},
{
"@type": "ScholarlyArticle",
"name": "Influence on the accuracy in ChatGPT: Differences in the amount of information per medical field.",
"datePublished": "2023-11-03",
"url": "https://questionsmedicales.fr/article/37931432",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1016/j.ijmedinf.2023.105283"
}
}
],
"breadcrumb": {
"@type": "BreadcrumbList",
"itemListElement": [
{
"@type": "ListItem",
"position": 1,
"name": "questionsmedicales.fr",
"item": "https://questionsmedicales.fr"
},
{
"@type": "ListItem",
"position": 2,
"name": "Maladies métaboliques et nutritionnelles",
"item": "https://questionsmedicales.fr/mesh/D009750"
},
{
"@type": "ListItem",
"position": 3,
"name": "Maladies métaboliques",
"item": "https://questionsmedicales.fr/mesh/D008659"
},
{
"@type": "ListItem",
"position": 4,
"name": "Erreurs innées du métabolisme",
"item": "https://questionsmedicales.fr/mesh/D008661"
},
{
"@type": "ListItem",
"position": 5,
"name": "Erreurs innées du métabolisme des métaux",
"item": "https://questionsmedicales.fr/mesh/D008664"
},
{
"@type": "ListItem",
"position": 6,
"name": "Maladie de Menkès",
"item": "https://questionsmedicales.fr/mesh/D007706"
}
]
}
},
{
"@type": "MedicalWebPage",
"name": "Article complet : Maladie de Menkès - Questions et réponses",
"headline": "Questions et réponses médicales fréquentes sur Maladie de Menkès",
"description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.",
"datePublished": "2025-05-11",
"inLanguage": "fr",
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Diagnostic",
"headline": "Diagnostic sur Maladie de Menkès",
"description": "Comment diagnostique-t-on la maladie de Menkès ?\nQuels tests génétiques sont utilisés ?\nLes analyses de cheveux sont-elles utiles ?\nQuels signes cliniques indiquent cette maladie ?\nÀ quel âge se manifeste la maladie ?",
"url": "https://questionsmedicales.fr/mesh/D007706?mesh_terms=Data+Accuracy#section-diagnostic"
},
{
"@type": "MedicalWebPage",
"name": "Symptômes",
"headline": "Symptômes sur Maladie de Menkès",
"description": "Quels sont les symptômes principaux ?\nLes problèmes neurologiques sont-ils fréquents ?\nY a-t-il des problèmes de croissance ?\nLes cheveux sont-ils affectés ?\nDes problèmes dentaires sont-ils associés ?",
"url": "https://questionsmedicales.fr/mesh/D007706?mesh_terms=Data+Accuracy#section-symptômes"
},
{
"@type": "MedicalWebPage",
"name": "Prévention",
"headline": "Prévention sur Maladie de Menkès",
"description": "Peut-on prévenir la maladie de Menkès ?\nLe dépistage prénatal est-il possible ?\nLes parents porteurs peuvent-ils être testés ?\nDes conseils génétiques sont-ils disponibles ?\nLes vaccinations sont-elles recommandées ?",
"url": "https://questionsmedicales.fr/mesh/D007706?mesh_terms=Data+Accuracy#section-prévention"
},
{
"@type": "MedicalWebPage",
"name": "Traitements",
"headline": "Traitements sur Maladie de Menkès",
"description": "Quel est le traitement principal ?\nLes traitements sont-ils efficaces ?\nY a-t-il des thérapies complémentaires ?\nLes soins palliatifs sont-ils nécessaires ?\nLes transfusions sanguines sont-elles utiles ?",
"url": "https://questionsmedicales.fr/mesh/D007706?mesh_terms=Data+Accuracy#section-traitements"
},
{
"@type": "MedicalWebPage",
"name": "Complications",
"headline": "Complications sur Maladie de Menkès",
"description": "Quelles sont les complications possibles ?\nLa maladie affecte-t-elle la vie quotidienne ?\nY a-t-il un risque accru de mortalité ?\nLes troubles comportementaux sont-ils fréquents ?\nDes problèmes cardiaques peuvent-ils se développer ?",
"url": "https://questionsmedicales.fr/mesh/D007706?mesh_terms=Data+Accuracy#section-complications"
},
{
"@type": "MedicalWebPage",
"name": "Facteurs de risque",
"headline": "Facteurs de risque sur Maladie de Menkès",
"description": "Quels sont les facteurs de risque connus ?\nLa maladie est-elle plus fréquente chez certains sexes ?\nLes parents porteurs sont-ils à risque ?\nY a-t-il des facteurs environnementaux ?\nLes consanguinités augmentent-elles le risque ?",
"url": "https://questionsmedicales.fr/mesh/D007706?mesh_terms=Data+Accuracy#section-facteurs de risque"
}
]
},
{
"@type": "FAQPage",
"mainEntity": [
{
"@type": "Question",
"name": "Comment diagnostique-t-on la maladie de Menkès ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le diagnostic repose sur l'examen clinique, l'analyse des cheveux et des tests génétiques."
}
},
{
"@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."
}
},
{
"@type": "Question",
"name": "À quel âge se manifeste la maladie ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes apparaissent généralement dans les premiers mois de la vie."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes principaux ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent des cheveux frisés, des retards de développement et des convulsions."
}
},
{
"@type": "Question",
"name": "Les problèmes neurologiques sont-ils fréquents ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles neurologiques comme l'hypotonie et des crises convulsives sont courants."
}
},
{
"@type": "Question",
"name": "Y a-t-il des problèmes de croissance ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les enfants peuvent présenter un retard de croissance et un développement physique anormal."
}
},
{
"@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."
}
},
{
"@type": "Question",
"name": "Des problèmes dentaires sont-ils associés ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des anomalies dentaires peuvent également survenir chez les patients atteints."
}
},
{
"@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."
}
},
{
"@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."
}
}
]
}
]
}
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 the medical field, we face many challenges, including the high cost of data collection and processing, difficult standards issues, and complex preprocessing techniques. It is necessary to establish...
We defined the data quality management system from three aspects (Construction - Operation - Utilization) based on the life cycle of medical data. Based on this, we proposed the "SMART DATA" concept a...
We define "SMART DATA" as systematized, high-quality data collected based on the life cycle of data construction, operation, and utilization through quality control activities for medical data. In thi...
In this study, we conducted primary research to develop a medical data quality management system. This will standardize medical data extraction and quality control methods and increase the utilization...
To assess the prevalence of overly positive interpretation, also called 'spin',-of results in diagnostic accuracy studies of infectious diseases and to identify suggestions for improvement....
A PubMed search was performed to identify diagnostic accuracy studies of infectious diseases published between January and March 2019. Each article was assessed by two authors independently to identif...
The final analysis included 120 studies. Favourable or promising recommendations were made in the main text of 101 (84%) of the included studies. Evidence of actual over-interpretation (spin) was foun...
Evidence of over-interpretation of results was found in one-third of the included studies. We have proposed possible interventions to prevent overly positive interpretations of results in diagnostic a...
We describe the design, implementation, and impact of a data harmonization, data quality checking, and dynamic report generation application in an international observational HIV research network. The...
For a long time, the reliability of medical-scientific research was, without further verification, based on real data. It is becoming increasingly clear that this assumption is unjustified and that pr...
Although ChatGPT was not developed for medical use, there is growing interest in its use in medical fields. Understanding its capabilities and precautions for its use in the medical field is an urgent...
A non-clinical experimental study....
We administered the Japanese National Medical Examination to GPT-3.5 and GPT-4 to examine the rates of accuracy and consistency in their responses. We counted the total number of documents in the Web ...
For GPT-4, we confirmed an accuracy rate of 81.0 % and a consistency rate of 88.8 % on the exam; both showed improvement compared to those for GPT-3.5. A positive correlation was observed between the ...
Checking consistency may help identify incorrect answers when using ChatGPT. Users should be aware that the accuracy of the answers by ChatGPT may decrease when it is asked about topics with limited p...
Pairing of the T cell receptor (TCR) with its cognate peptide-MHC (pMHC) is a cornerstone in T cell-mediated immunity. Recently, single-cell sequencing coupled with DNA-barcoded MHC multimer staining ...
Digital transformation in healthcare and the growth of health data generation and collection are important challenges for the secondary use of healthcare records in the health research field. Likewise...
To capture the different data governance behind health data hubs across Europe, a survey focused on analysing the feasibility of linking individual-level data between data collections and the generati...
In total, 41 survey responses received until June 2022 were analysed. Stratification methods were performed to cover the different levels of granularity identified in some data hubs' characteristics. ...
The analysis of the responses from health data hub respondents across Europe provided a list of the most frequent aspects, which concluded with a set of specific best practices on data management and ...
Unstructured text data (UTD) are increasingly found in many databases that were never intended to be used for research, including electronic medical record (EMR) databases. Data quality can impact the...
Our objective was to systematically document current research and practices about NLP preprocessing methods to describe or improve the quality of UTD, including UTD found in EMR databases....
A scoping review was undertaken of peer-reviewed studies published between December 2002 and January 2021. Scopus, Web of Science, ProQuest, and EBSCOhost were searched for literature relevant to the ...
A total of 41 articles were included in the scoping review; over 50% were published between 2016 and 2021. Almost 20% of the articles were published in health science journals. Common preprocessing me...
Multiple NLP techniques have been proposed to preprocess UTD, with some differences in techniques applied to EMR data. There are similarities in the data quality dimensions used to characterize struct...
In this evaluation, we aim to strengthen Routine Health Information Systems (RHIS) through the digitization of data quality assessment (DQA) processes. We leverage electronic data from the Kenya Healt...
We evaluated 187 HIV care facilities with electronic medical records across Kenya. Using quarterly, longitudinal KHIS data from January 2011 to June 2018 (total N = 30 quarters), we extracted indicato...
A total of 5,610 unique facility-quarters were extracted from KHIS. The mean completeness score was 61.1% [standard deviation (SD) = 27%]. The mean consistency score was 80% (SD = 16.4%). The mean dis...
We observed a lack of correlation between the completeness score and the other two scores. As such, for a holistic DQA, completeness assessment should be paired with the measurement of either consiste...
Groundwater overuse in different domains will eventually lead to global freshwater scarcity. To meet the anticipated demands, many governments worldwide are employing innovative and traditional techni...