Evaluation of the functional capacity of patients with CADASIL in the state of Rio de Janeiro
Notice bibliographique
Résumé
Background: Autosomal dominant cerebral arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL) resulting from mutations in the NOTCH 3 gene on chromosome 19 is considered a rare condition and is the most prevalent hereditary small vessel vascular disease. Course with ischemic stroke, migraine and vascular dementia. It has a broad neuropsychiatric spectrum including mood changes, apathy and depression. The progression of the disease leads to the emergence of neurological sequelae and loss of functional capacity, physical and mental disability. Objective: This work aims to evaluate functional capacity, the occurrence of disability and cognitive decline in 28 patients from 11 families with CADASIL. Methods: Standardized functionality scales were applied, such as the modified Rankim scale (IRM), Barthel index (BI) and cognitive screening with the Montreal Cognitive Assessment (MoCA). The SPSS tool was used for statistical analysis of the results. Results: 28 cases from 11 families with lesions detected in the NOTCH3 gene were evaluated. 16 (57.1%) were women, 12 (42.9%) men; the average age was 46.36 years, the youngest age 22, the oldest age 67, the sample standard deviation was 12.53 years, coefficient of variation of 27.02%. The MoCA partnered 13 (46.4%) with cognitive impairment and 15 (53.6%) preserved cognitive impairment; MRI without symptoms in 19 (67.9%), without disability in 3 (10.7%), moderate disability in 5 (17.9%) and severe disability in 1 (3.6%); BI with a degree of severe functional dependence in 1 (3.6%), a degree of mild dependence in 8 (28.6%) and functional independence in 19 (67.9%). Conclusion: The application of the functionality and cognitive screening scales evaluated the sequelae of the disease, which were expressed in varying degrees of functional disability, physical disability and cognitive impairment. The sample had a predominance of women, the age variability between the second and sixth decade of life was compatible with literature data, with age being a homogeneous set. The IRM detected that the majority were able to carry out all their activities and take care of their own interests, showing no symptoms or moderate disability. The IB showed that the majority were functionally independent, although cases of severe disability for ADLs were identified. The high prevalence of cognitive impairment shows that neuropsychiatric symptoms can be present even in asymptomatic patients without functional disability. This study seeks to collect unprecedented epidemiological data on functionality in Brazil and be useful for adapting and collaborating in the development of health strategies.
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,004 | 0,001 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,000 | 0,001 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,001 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule tête enseignante, pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».