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Record W4416985671 · doi:10.1136/bcr-2025-269164

Abnormal DHR is not always synonymous with a diagnosis of chronic granulomatous disease

2025· article· en· W4416985671 on OpenAlexaff
Solafa Noorsaeed, Reza Alizadehfar, Bruce Mazer, Christine McCusker

Bibliographic record

VenueBMJ Case Reports · 2025
Typearticle
Languageen
FieldImmunology and Microbiology
TopicNeutrophil, Myeloperoxidase and Oxidative Mechanisms
Canadian institutionsMcGill University Health Centre
Fundersnot available
KeywordsChronic granulomatous diseaseMyeloperoxidaseDifferential diagnosisDiseaseMutationGranulomatous disease

Abstract

fetched live from OpenAlex

Myeloperoxidase (MPO) deficiency is a rare inherited neutrophil disorder associated with an increased risk of infections. We present a case of a male child with no underlying medical conditions who presented with a difficult-to-manage renal abscess, enterococcal urosepsis and an abnormal dihydro-rhodamine 123 test. On genetic evaluation, he was found to have a homozygous mutation in the MPO gene, leading to the diagnosis of MPO deficiency. This case highlights the clinical importance of MPO activity in the clearance of specific microorganisms. MPO deficiency should be considered in the differential diagnosis of paediatric patients with difficult-to-manage abscesses.

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)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.706
Threshold uncertainty score0.989

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
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 head0.012
GPT teacher head0.259
Teacher spread0.248 · 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 designBench or experimental
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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