The White Matter Rounds Experience: The Importance of a Multidisciplinary International Network to Accelerate the Diagnostic Process for Adult Patients with Rare White Matter Disorders (P1-1.Virtual)
Notice bibliographique
Résumé
Objective: To present the experience of the White Matter (WM) Rounds Network and demonstrate the usefulness of collaborative multidisciplinary international case discussion meetings in improving the diagnostic rate in patients with rare white matter disorders. Background: Adult patients with genetic leukoencephalopathies or atypical white matter abnormalities often experience considerable delays before receiving a final diagnosis, due to the rarity of their conditions and the clinical and radiological overlap between hereditary and acquired white matter disorders, especially multiple sclerosis (MS). In this context, a strong collaborative network between same-field experts is beneficial for shortening the diagnostic odyssey of these patients and for preventing misdiagnosis. The WM Rounds is a multidisciplinary network of physicians and scientists from North America, Europe, and Middle East, that gather every month to discuss patients with atypical white matter disorders and that form a strong collaborative network. Design/Methods: We retrospectively reviewed the demographic, clinical and radiological data of all the subjects presented at the WM Rounds since its creation in 2013. Results: Eighty-one patients (mean age 43.9) have been referred and discussed at the WM Rounds since 2013. In most cases, the referring physician was a geneticist (36/81; 44.4%) or an MS specialist (34/81; 41.9%). Thanks to the WM Rounds recommendations, a final diagnosis was made in 36/81 (44.4%) patients. Of these, 25 (69.4%) were diagnosed with a genetic neurological disease, six of whom (6/26, 23.1%) had been initially assessed in MS clinics. Conclusions: The experience of the WM Rounds Network demonstrates the benefit of joining efforts through collective discussions on challenging patient cases to increase the diagnostic rate and prevent misdiagnosis. Networks of this nature allow physicians and scientists to compare and share information on rare cases from across the world and provide a basis for future multicenter research studies. Disclosure: Miss Huang has nothing to disclose. Dr. Giacomini has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Innodem Neurosciences. Dr. Giacomini has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Novartis. Dr. Giacomini has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for F. Hoffmann- La Roche. Dr. Giacomini has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alexion. Dr. Giacomini has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Giacomini has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Bristol Myers Squibb. Dr. Giacomini has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for EMD Serono. Dr. Giacomini has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for F. Hoffmann-La Roche. Dr. Giacomini has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Dr. Giacomini has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi. Dr. Giacomini has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Biogen. Dr. Giacomini has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for F. Hoffman-La Roche. Dr. Giacomini has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Novartis. Dr. Giacomini has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for EMD Serono. Dr. Giacomini has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Sanofi. Dr. Massie has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Kye pharmaceutical. Dr. Massie has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alnylam Pharmaceutical. Dr. Massie has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Akcea Therapeutics. The institution of Dr. Massie has received research support from Alnylam Pharmaceuticals. Dr. Venkateswaran has nothing to disclose. Roberta La Piana has nothing to disclose. Dr. Trudelle has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Bristol Myers Squibb. Dr. Trudelle has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Trudelle has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Dr. Trudelle has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for EMD Serono. Dr. Trudelle has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi Genzyme. Dr. Trudelle has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Bristol Myers Squibb. Dr. Trudelle has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Alexion. Dr. Trudelle has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Biogen. Dr. Trudelle has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Roche. Dr. Trudelle has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Sanofi Genzyme. Dr. Fadda has nothing to disclose. Dr. Sharifiandorche has nothing to disclose. Dr. Boudjani has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen . Dr. Boudjani has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alexion. Dr. Poliquin-Lasnier has nothing to disclose. Dr. Airas has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Genzyme. Dr. Airas has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Dr. Airas has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Merck. Dr. Airas has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Dr. Saveriano has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roche. Dr. Saveriano has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Dr. Saveriano has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanofi-Genzyme. Dr. Saveriano has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Alexion. Dr. Saveriano has received personal compensation in the range of $500-$4,999 for serving as a Consultant for EMD-Serono. Dr. Saveriano has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Levesque-Roy has nothing to disclose. Dr. Ziller has nothing to disclose. Elka Miller has nothing to disclose. Dr. Martinez-Rios has nothing to disclose. Dr. Davila has nothing to disclose. Dr. Longbrake has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Biogen. Dr. Longbrake has received personal compensation in the range of $500-$4,999 for serving as a Consultant for EMD Serono. Dr. Longbrake has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Alexion. Dr. Longbrake has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Genzyme. Dr. Longbrake has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Genentech. Dr. Longbrake has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Genentech. Dr. Longbrake has received personal compensation in the range of $0-$499 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Annals of Neurology. The institution of Dr. Longbrake has received research support from Genentech. The institution of Dr. Longbrake has received research support from Race to Erase MS. The institution of Dr. Longbrake has received research support from NINDS K23. Dr. Longbrake has received personal compensation in the range of $500-$4,999 for serving as a Study Section Member with Department of Defense (CDMRP). Dr. Antel has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for sanofi, roche, biogen, wave,nervgen. The institution of Dr. Antel has received research support from Novartis canada bristol myers squib. Dr. Antel has a non-compensated relationship as a past president with ACTRIMS that is relevant to AAN interests or activities. Dr. Brais has nothing to disclose. The institution of Dr. Bernard has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Passage Bio. Dr. Bernard has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Ionis. The institution of Dr. Bernard has received research support from Takeda. The institution of Dr. Bernard has received research support from Canadian Institutes of Health Research. The institution of Dr. Bernard has received research support from Montreal Children's Foundation. The institution of Dr. Bernard has received research support from Yaya Foundation for 4H Leukodystrophy. The institution of Dr. Bernard has received research support from Fondation Les Amis d'Elliot. The institution of Dr. Bernard has received research support from Pelizaeus-Merzbacher Disease Foundation. Dr. Bernard has received research support from Canadian Institutes of Health Research. Dr. Rush has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roche . Dr. Rush has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen . Dr. Rush has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen . Dr. Rush has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanofi . Dr. Rush has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanofi . Dr. Rush has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pendopharm . Dr. Rush has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanofi . Roberta La Piana has nothing to disclose.
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 machine sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Le volet Gemma est une étiquette directe du modèle pour chaque travail de la base, lue sur la notice réduite au titre. Le volet Codex est un classifieur appris des 10 348 étiquettes directes de Codex et calibré sur les taux pondérés de l'échantillon; les champs sans appui suffisant ne portent aucun appel Codex. Le mode candidate est l'union des deux volets; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont pas des étiquettes humaines.
Scores du classifieur distillé par catégorie (deux têtes)
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,005 | 0,016 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,001 | 0,000 |
| Bibliométrie | 0,001 | 0,000 |
| Études des sciences et des technologies | 0,002 | 0,001 |
| Communication savante | 0,004 | 0,003 |
| Science ouverte | 0,001 | 0,003 |
| Intégrité de la recherche | 0,006 | 0,006 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,120 | 0,054 |
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 source (Gemma direct ou Codex distillé), 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 ».