MétaCan
Menu
Back to cohort
Record W4407722455 · doi:10.1016/j.jaad.2025.02.032

Assessing the diagnostic metrics of cutaneous leiomyomas in hereditary leiomyomatosis and renal cell cancer syndrome: An observational study

2025· article· en· W4407722455 on OpenAlexaff
Lydia Ouchene, Megha Udupa, Lorena Alexandra Mija, Sarah Moussa, May Chergui, Kevin Watters, Tania Cruz Mariño, Simon Tanguay, Fadi Brimo, Lili Fu, Elham Rahme, Mohammed Kaouache, William D. Foulkes, Elena Netchiporouk

Bibliographic record

VenueJournal of the American Academy of Dermatology · 2025
Typearticle
Languageen
FieldMedicine
TopicUrologic and reproductive health conditions
Canadian institutionsJewish General HospitalMcGill UniversityUniversité de MontréalMcGill University Health Centre
Fundersnot available
KeywordsMedicineLeiomyomatosisObservational studyLeiomyomaPathologyDermatology

Abstract

fetched live from OpenAlex

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant syndrome caused by a germline pathogenic variant (GPV) in the fumarate hydratase (FH) gene carrying a ∼15% lifetime risk of renal cell carcinoma (RCC).1-3 Cutaneous leiomyomas (CLs) are the earliest and the most common clinical features, providing dermatologists with a unique opportunity to diagnose HLRCC and initiate RCC screening.1-3 Here, we aimed to assess the sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and likelihood ratios (LRs) of CLs in HLRCC diagnosis and determine the age-dependent penetrance and NPV of CLs.

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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation 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 score0.044
Threshold uncertainty score0.287

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.001
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0000.000

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 head0.075
GPT teacher head0.412
Teacher spread0.337 · 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 teacher head, 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

Citations8
Published2025
Admission routes1
Has abstractyes

Explore more

Same venueJournal of the American Academy of DermatologySame topicUrologic and reproductive health conditionsFrench-language works237,207