Notice bibliographique
Résumé
1. W. Douglas Biggar, MD* 1. *Professor of Paediatrics, University of Toronto, Bloorview Macmillan Children’s Centre, Toronto, Ontario, Canada After completing this article, readers should be able to: 1. Describe the pathogenesis of Duchenne muscular dystropy (DMD). 2. Describe the natural history and late complications of DMD. 3. List the laboratory investigations available to diagnose muscle disorders. 4. Discuss the management for DMD. MD was born following a normal pregnancy and delivery. His parents were nonconsanguineous, and the family history was unremarkable. He had a 6-year-old brother who was well. MD walked when he was 18 months old, 6 months later than his brother. He was a toe-walker and had large calves. He never ran as well as his brother, and he could not hop on one foot. By 4 years of age, he had difficulty climbing stairs at home and the ladder at the neighborhood playground. His pelvic girdle muscles were weak, he walked with a rocking, side-to-side, waddling gait (Trendelenburg), and he developed lumbar lordosis. He fell more frequently for no apparent reason. His parents became concerned and sought medical advice. Laboratory testing revealed a serum creatine kinase value 50 times greater than normal. On genetic testing, Duchenne muscular dystrophy (DMD) was diagnosed. His weakness progressed. To get up after falling, he would have to use his hands to climb up his legs to stand. In the first grade, his academic performance was judged to be delayed. His teachers noticed that his concentration was poor; he had difficulty staying on task. He scored higher on his verbal intelligence quotient than on his performance intelligence quotient. He also was teased by other children at recess. His parents elected to have him repeat the first grade. He required an educational assistant for classroom activities. He also displayed some obsessive-compulsive behaviors. When he was 10 years old, walking became more difficult, and he required a wheelchair for ambulation. His weight gain became excessive as …
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 | 0,000 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,000 | 0,000 |
| 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 | 0,000 |
| 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 ».