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Record W3087691952 · doi:10.1136/bmjopen-2020-037909

Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America

2020· review· en· W3087691952 on OpenAlexaff
Joshua D Green, Richard J. Barohn, Emanuela Bartoccion, Michael Benatar, Derrick Blackmore, Vinay Chaudhry, Manisha Chopra, Andrea M. Corse, Mazen M. Dimachkie, Amelia Evoli, Julaine Florence, Miriam Freimer, James F. Howard, Theresa Jiwa, Henry J. Kaminski, John T. Kissel, Wilma J. Koopman, Bernadette Lipscomb, Michelanglo Maestri, Mariapaola Marino, Janice M. Massey, April McVey, Michelle M. Mezei, Srikanth Muppidi, Michael Nicolle, Joël Oger, Robert M. Pascuzzi, Mamatha Pasnoor, Alan Pestronk, Carlo Provenzano, Roberta Ricciardi, David P. Richman, Julie Rowin, Donald B. Sanders, Zaeem A. Siddiqi, Gil I. Wolfe, Charlie Wulf, Daniel B. Drachman, Bryan Traynor

Bibliographic record

VenueBMJ Open · 2020
Typereview
Languageen
FieldMedicine
TopicMyasthenia Gravis and Thymoma
Canadian institutionsLondon Health Sciences CentreUniversity of British ColumbiaUniversity of Alberta HospitalAlberta Hospital Edmonton
FundersRobert Packard Center for ALS Research, Johns Hopkins UniversityNational Institute of Neurological Disorders and StrokeNational Institute on AgingNational Institutes of HealthGenentechAmicus TherapeuticsALS Recovery FundCytokineticsSarepta TherapeuticsTarget ALSGrifolsAlexion PharmaceuticalsMicrosoft ResearchEuropean CommissionCenters for Disease Control and PreventionPTC TherapeuticsEli Lilly and CompanyU.S. Department of DefenseSanofiAveXisBiogenGlaxoSmithKlineAlnylam PharmaceuticalsSanofi GenzymePatient-Centered Outcomes Research InstituteBristol-Myers SquibbMyasthenia Gravis Foundation of AmericaMuscular Dystrophy AssociationMitsubishi Tanabe Pharma CorporationALS Association
KeywordsMyasthenia gravisMedicineEpidemiologyRetrospective cohort studyFamily historyCohortCohort studyPediatricsAutoimmune diseaseDiseaseInternal medicine

Abstract

fetched live from OpenAlex

OBJECTIVES: To approximate the rate of familial myasthenia gravis and the coexistence of other autoimmune disorders in the patients and their families. DESIGN: Retrospective cohort study. SETTING: Clinics across North America. PARTICIPANTS: The study included 1032 patients diagnosed with acetylcholine receptor antibody (AChR)-positive myasthenia gravis. METHODS: Phenotype information of 1032 patients diagnosed with AChR-positive myasthenia gravis was obtained from clinics at 14 centres across North America between January 2010 and January 2011. A critical review of the epidemiological literature on the familial rate of myasthenia gravis was also performed. RESULTS: Among 1032 patients, 58 (5.6%) reported a family history of myasthenia gravis. A history of autoimmune diseases was present in 26.6% of patients and in 28.4% of their family members. DISCUSSION: The familial rate of myasthenia gravis was higher than would be expected for a sporadic disease. Furthermore, a high proportion of patients had a personal or family history of autoimmune disease. Taken together, these findings suggest a genetic contribution to the pathogenesis of myasthenia gravis.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.003
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.004
Threshold uncertainty score0.007

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.003
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.003
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0010.000
Insufficient payload (model declined to judge)0.0010.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.170
GPT teacher head0.462
Teacher spread0.292 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreReview

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations20
Published2020
Admission routes1
Has abstractyes

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