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Record W4413772765 · doi:10.1186/s13023-025-03883-1

Assessing racial differences in North American hereditary hemorrhagic telangiectasia study recruitment and care

2025· article· en· W4413772765 on OpenAlexaffabout
Ashlee Agundiz, Jeffrey T. Nelson, Steven W. Hetts, Marianne S. Clancy, Helen Kim, Marie E. Faughnan

Bibliographic record

VenueOrphanet Journal of Rare Diseases · 2025
Typearticle
Languageen
FieldMedicine
TopicVascular Anomalies and Treatments
Canadian institutionsSt. Michael's Hospital
FundersNational Center for Advancing Translational SciencesNational Institute of Neurological Disorders and StrokeRare Diseases Clinical Research Network
KeywordsTelangiectasiaHuman geneticsMedicineGeneticsFamily medicineBiologyPathologyGene

Abstract

fetched live from OpenAlex

BACKGROUND: There is increasing evidence of health outcome disparities due to inequitable healthcare. These inequities are likely compounded in rare disease care and research. We aimed to identify disparities in access to clinical care and research for patients with hereditary hemorrhagic telangiectasia (HHT) in North America. METHODS: We collected race data from the Toronto HHT Centre Brain Vascular Malformation Consortium (BVMC) recruits, the UCSF HHT Centre BVMC recruits, and the UCSF HHT Centre clinic patients, and compared proportions to local populations (2016 Canadian Census and 2010 San Francisco Bay Area Census). RESULTS: At the UCSF HHT center, there was a significant association between race and BVMC enrollment status (p = 0.033). The proportion of White BVMC recruits was significantly higher than reported in the SF Bay Area Census data (p < 0.001). At the Toronto HHT centre the proportion of White BVMC recruits was significantly higher than reported in the Canadian Census provincial data (p < 0.001), and Toronto Metropolitan Area data (p < 0.001). CONCLUSION: We report preliminary evidence of racial differences in access to HHT care and research in North America. Our findings indicate a need for race data collection and reporting, as well as identification of barriers and potential solutions in HHT care and research.

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)0.005
metaresearch head score (Gemma)0.010
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: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.143
Threshold uncertainty score0.285

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0050.010
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0020.000
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0040.000

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 head0.028
GPT teacher head0.319
Teacher spread0.291 · 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
GenreEmpirical

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

Citations0
Published2025
Admission routes2
Has abstractyes

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