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"name": "Diagnostic",
"headline": "Diagnostic sur Maladie de Leigh",
"description": "Comment diagnostique-t-on la maladie de Leigh ?\nQuels examens sont recommandés pour le diagnostic ?\nLes symptômes peuvent-ils aider au diagnostic ?\nQuel rôle joue l'historique familial dans le diagnostic ?\nPeut-on diagnostiquer la maladie de Leigh à tout âge ?",
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"@type": "Question",
"name": "Comment diagnostique-t-on la maladie de Leigh ?",
"position": 1,
"acceptedAnswer": {
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"text": "Le diagnostic repose sur l'imagerie cérébrale, les tests génétiques et l'analyse du liquide céphalorachidien."
}
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{
"@type": "Question",
"name": "Quels examens sont recommandés pour le diagnostic ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'IRM cérébrale et les tests biochimiques mitochondriaux sont souvent utilisés."
}
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{
"@type": "Question",
"name": "Les symptômes peuvent-ils aider au diagnostic ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes neurologiques et métaboliques orientent vers un diagnostic de la maladie de Leigh."
}
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{
"@type": "Question",
"name": "Quel rôle joue l'historique familial dans le diagnostic ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un historique familial de maladies mitochondriales peut augmenter la suspicion de la maladie de Leigh."
}
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{
"@type": "Question",
"name": "Peut-on diagnostiquer la maladie de Leigh à tout âge ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Bien que souvent diagnostiquée chez les enfants, elle peut apparaître à tout âge."
}
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{
"@type": "Question",
"name": "Quels sont les symptômes principaux de la maladie de Leigh ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent des troubles neurologiques, des crises, et des problèmes respiratoires."
}
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{
"@type": "Question",
"name": "La maladie de Leigh provoque-t-elle des retards de développement ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les enfants peuvent présenter des retards de développement moteur et cognitif."
}
},
{
"@type": "Question",
"name": "Y a-t-il des symptômes spécifiques à surveiller ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Surveillez les troubles de la coordination, la faiblesse musculaire et les crises épileptiques."
}
},
{
"@type": "Question",
"name": "Les symptômes varient-ils d'un patient à l'autre ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'expression des symptômes peut varier considérablement entre les individus."
}
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{
"@type": "Question",
"name": "Les symptômes peuvent-ils s'aggraver avec le temps ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la maladie de Leigh est progressive et les symptômes peuvent s'aggraver avec le temps."
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{
"@type": "Question",
"name": "Peut-on prévenir la maladie de Leigh ?",
"position": 11,
"acceptedAnswer": {
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"text": "Actuellement, il n'existe pas de méthode de prévention connue pour la maladie de Leigh."
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{
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"name": "Le dépistage génétique est-il utile ?",
"position": 12,
"acceptedAnswer": {
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"text": "Le dépistage génétique peut aider à identifier les porteurs dans les familles à risque."
}
},
{
"@type": "Question",
"name": "Les conseils génétiques sont-ils recommandés ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les conseils génétiques sont conseillés pour les familles ayant des antécédents de maladies mitochondriales."
}
},
{
"@type": "Question",
"name": "Les femmes enceintes peuvent-elles être testées ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des tests peuvent être effectués pendant la grossesse pour détecter des anomalies génétiques."
}
},
{
"@type": "Question",
"name": "Y a-t-il des mesures préventives à prendre ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Éviter l'exposition à des toxines et maintenir une bonne santé générale peuvent être bénéfiques."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour la maladie de Leigh ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il n'existe pas de traitement curatif, mais des soins symptomatiques et de soutien sont proposés."
}
},
{
"@type": "Question",
"name": "Les suppléments nutritionnels aident-ils ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des suppléments comme la coenzyme Q10 peuvent être bénéfiques pour certains patients."
}
},
{
"@type": "Question",
"name": "La physiothérapie est-elle recommandée ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la physiothérapie peut aider à améliorer la mobilité et la qualité de vie des patients."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des essais cliniques sur des thérapies géniques et des traitements ciblés sont en cours."
}
},
{
"@type": "Question",
"name": "Les traitements varient-ils selon l'âge ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les traitements peuvent être adaptés en fonction de l'âge et de la gravité des symptômes."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec la maladie de Leigh ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des troubles respiratoires, des problèmes cardiaques et des infections."
}
},
{
"@type": "Question",
"name": "La maladie de Leigh peut-elle entraîner des handicaps ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elle peut causer des handicaps physiques et cognitifs significatifs chez les patients."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "La plupart des complications ne sont pas réversibles et nécessitent une gestion à long terme."
}
},
{
"@type": "Question",
"name": "Les patients sont-ils à risque d'autres maladies ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les patients peuvent être plus susceptibles de développer d'autres maladies métaboliques."
}
},
{
"@type": "Question",
"name": "Comment gérer les complications ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une approche multidisciplinaire est nécessaire pour gérer les complications et améliorer la qualité de vie."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque de la maladie de Leigh ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux de maladies mitochondriales et des mutations génétiques."
}
},
{
"@type": "Question",
"name": "La consanguinité augmente-t-elle le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la consanguinité peut augmenter le risque de transmission de maladies génétiques comme la maladie de Leigh."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des facteurs environnementaux peuvent influencer l'expression des maladies mitochondriales, mais leur rôle est encore étudié."
}
},
{
"@type": "Question",
"name": "Les hommes et les femmes sont-ils également affectés ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la maladie de Leigh affecte les deux sexes de manière égale, sans prédisposition spécifique."
}
},
{
"@type": "Question",
"name": "Les enfants sont-ils plus à risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les enfants sont plus souvent diagnostiqués, mais la maladie peut également apparaître chez les adultes."
}
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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....
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...
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 electronic Medical Records and Genomics (eMERGE) Network assessed the feasibility of deploying portable phenotype rule-based algorithms with natural language processing (NLP) components added to i...
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...
Methods relying on diagnostic codes to identify suicidal ideation and suicide attempt in Electronic Health Records (EHRs) at scale are suboptimal because suicide-related outcomes are heavily under-cod...
This article proposes a Riemannian adaptive optimization algorithm to optimize the parameters of deep neural networks. The algorithm is an extension of both AMSGrad in Euclidean space and RAMSGrad on ...
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...
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....
Developing clinical natural language systems based on machine learning and deep learning is dependent on the availability of large-scale annotated clinical text datasets, most of which are time-consum...