Titre : Maladie de Menkès

Maladie de Menkès : Questions médicales fréquentes

Termes MeSH sélectionnés :

Natural Language Processing
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?\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=Natural+Language+Processing&page=3#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=Natural+Language+Processing&page=3#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=Natural+Language+Processing&page=3#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=Natural+Language+Processing&page=3#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=Natural+Language+Processing&page=3#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=Natural+Language+Processing&page=3#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." } } ] } ] }

Sources (10000 au total)

Enhancing Pressure Injury Surveillance Using Natural Language Processing.

This study assessed the feasibility of nursing handoff notes to identify underreported hospital-acquired pressure injury (HAPI) events.... We have established a natural language processing-assisted manual review process and workflow for data extraction from a corpus of nursing notes across all medical inpatient and intensive care units i... Our initial corpus involved 70,981 notes during a 1-year period from 5484 unique admissions for 4220 patients. Our interrater human reviewer agreement on identifying HAPI was high ( κ = 0.67; 95% conf... Natural language processing-based surveillance is proven to be feasible and high yield using nursing handoff notes....

Identification of Preanesthetic History Elements by a Natural Language Processing Engine.

Methods that can automate, support, and streamline the preanesthesia evaluation process may improve resource utilization and efficiency. Natural language processing (NLP) involves the extraction of re... For each patient, we collected all pertinent notes from the institution's electronic medical record that were available no later than 1 day before their preoperative anesthesia clinic appointment. Per... A total of 93 patients were included in the NLP pipeline input. Free-text notes were extracted from the electronic medical record of these patients for a total of 9765 notes. The NLP pipeline and anes... In this proof-of-concept study, we demonstrated that utilization of NLP produced an output that identified medical conditions relevant to preanesthetic evaluation from unstructured free-text input. Au...

MedLexSp - a medical lexicon for Spanish medical natural language processing.

Medical lexicons enable the natural language processing (NLP) of health texts. Lexicons gather terms and concepts from thesauri and ontologies, and linguistic data for part-of-speech (PoS) tagging, le... This article describes an unified medical lexicon for Medical Natural Language Processing in Spanish. MedLexSp includes terms and inflected word forms with PoS information and Unified Medical Language... The lexicon is distributed in a delimiter-separated value file; an XML file with the Lexical Markup Framework; a lemmatizer module for the Spacy and Stanza libraries; and complementary Lexical Record ...

The use of natural language processing in palliative care research: A scoping review.

Natural language processing has been increasingly used in palliative care research over the last 5 years for its versatility and accuracy.... To evaluate and characterize natural language processing use in palliative care research, including the most commonly used natural language processing software and computational methods, data sources,... A scoping review using the framework by Arksey and O'Malley and the updated recommendations proposed by Levac et al. was conducted.... PubMed, Web of Science, Embase, Scopus, and IEEE Xplore databases were searched for palliative care studies that utilized natural language processing tools. Data on study characteristics and natural l... 197 relevant references were identified. Of these, 82 were included after full-text review. Studies were published in 48 different journals from 2007 to 2022. The average sample size was 21,541 (media... We found 82 papers on palliative care using natural language processing methods for a wide-range of topics and sources of data that could expand the use of this methodology. We encourage researchers t...

A Narrative Literature Review of Natural Language Processing Applied to the Occupational Exposome.

The evolution of the Exposome concept revolutionised the research in exposure assessment and epidemiology by introducing the need for a more holistic approach on the exploration of the relationship be... We conduct a literature search on PubMed, Scopus and Web of Science for scientific articles published between 2011 and 2021. We use both quantitative and qualitative methods to screen papers and provi... Overall, 6420 articles were screened for the suitability of this review, where we review 37 articles in depth. Finally, we discuss future avenues of research and outline challenges in existing work.... Our results show that (i) there has been an increase in articles published that focus on applying NLP to exposure and epidemiology research, (ii) most work uses existing NLP tools and (iii) traditiona...

Natural language processing augments comorbidity documentation in neurosurgical inpatient admissions.

To establish whether or not a natural language processing technique could identify two common inpatient neurosurgical comorbidities using only text reports of inpatient head imaging.... A training and testing dataset of reports of 979 CT or MRI scans of the brain for patients admitted to the neurosurgery service of a single hospital in June 2021 or to the Emergency Department between... For "brain compression", a random forest classifier outperformed other candidate algorithms with an accuracy of 0.81 and area under the curve of 0.90 in the testing dataset. For "brain edema", a rando... A natural language processing-based machine learning algorithm can reliably and reproducibly identify selected common neurosurgical comorbidities from radiology reports.... This result may justify the use of machine learning-based decision support to augment provider documentation....