Titre : Maladie de Menkès

Maladie de Menkès : Questions médicales fréquentes

Termes MeSH sélectionnés :

Natural Language Processing
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"https://questionsmedicales.fr/mesh/D007706?mesh_terms=Natural+Language+Processing&page=2#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=2#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)

Natural language processing for clinical notes in dentistry: A systematic review.

To identify and synthesise research on applications of natural language processing (NLP) for information extraction and retrieval from clinical notes in dentistry.... A predefined search strategy was applied in EMBASE, CINAHL and Medline. Studies eligible for inclusion were those that that described, evaluated, or applied NLP to clinical notes containing either hum... Of the 17 included studies, 10 developed and evaluated NLP methods and 7 described applications of NLP-based information retrieval methods in dental records. Studies were published between 2015 and 20... Study design heterogeneity and incomplete reporting of studies currently limits our ability to synthesise NLP applications in dental records. Standardisation of reporting and improved connections betw... PROSPERO CRD42021227823....

Can Natural Language Processing Improve Adnexal Torsion Predictions?

To create a decision support tool based on machine learning algorithms and natural language processing (NLP) technology, to augment clinicians' ability to predict cases of suspected adnexal torsion.... Retrospective cohort study SETTING: Gynecology department, university-affiliated teaching medical center, 2014-2022.... This study assessed risk-factors for adnexal torsion among women managed surgically for suspected adnexal torsion based on clinical and sonographic data.... None.... The dataset included demographic, clinical, sonographic, and surgical information obtained from electronic medical records. NLP was used to extract insights from unstructured free text and unlock them... Using machine learning algorithms and NLP technology as a decision-support tool for the diagnosis of adnexal torsion is feasible. It improved true prediction of adnexal torsion to 84% and decreased ca...

Natural language processing to identify and characterize spondyloarthritis in clinical practice.

This study aims to use a novel technology based on natural language processing (NLP) to extract clinical information from electronic health records (EHRs) to characterise the clinical profile of patie... An observational, retrospective analysis was conducted on EHR data from all patients with SpA (including psoriatic arthritis (PsA)) at Hospital Universitario La Paz, between 2020 and 2022. Data were c... From a hospital population of 639 474 patients, 4337 (0.7%) patients had a diagnosis of SpA or their subtypes in their EHR. The population predominantly comprised men (55.3%) with a mean age of 50.9 y... The application of NLP technology facilitated the characterisation of the SpA patient profile, including demographics, clinical features, comorbidities and treatments. This study supports the utility ...