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Record W4410717477 · doi:10.1177/2050313x251341512

A series of cutaneous manifestations in a patient with vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome

2025· article· en· W4410717477 on OpenAlexaff
Anne-Sophie Groleau, Alex Derstenfeld, Steffany Poupart, Isabelle Marcil

Bibliographic record

VenueSAGE Open Medical Case Reports · 2025
Typearticle
Languageen
FieldMedicine
TopicOtitis Media and Relapsing Polychondritis
Canadian institutionsUniversité de MontréalCentre Hospitalier de l’Université de Montréal
Fundersnot available
KeywordsMedicineSomatic cellVacuolePathologyDermatologyBiologyGeneticsCytoplasmGene

Abstract

fetched live from OpenAlex

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic is a rare, autoinflammatory disorder caused by a somatic mutation of ubiquitin-activating enzyme 1. Common systemic manifestations include fever, neutrophilic dermatoses, relapsing polychondritis, and pulmonary manifestations. Cutaneous manifestations are frequently the initial presentation and are a marker of systemic disease. Here, we present an unusual case of a 71-year-old man with multiple cutaneous manifestations of vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome occurring simultaneously.

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)0.000
metaresearch head score (Gemma)0.002
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Case report · Consensus signal: Case report
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.002
Threshold uncertainty score0.006

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.002
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.001
Science and technology studies0.0020.001
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0020.002
Insufficient payload (model declined to judge)0.0020.001

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 head0.007
GPT teacher head0.267
Teacher spread0.260 · 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 designCase report
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 routes1
Has abstractyes

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