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Record W4410040471 · doi:10.1136/bcr-2024-263471

Compound heterozygous congenital protein C deficiency: a challenging management with recurrent purpura fulminans treated with protein C concentrations

2025· article· en· W4410040471 on OpenAlexaff
Chonlatis Srichumpuang, Phawin Kor‐anantakul, Leonardo R. Brandão, Darintr Sosothikul

Bibliographic record

VenueBMJ Case Reports · 2025
Typearticle
Languageen
FieldMedicine
TopicBlood Coagulation and Thrombosis Mechanisms
Canadian institutionsHospital for Sick Children
Fundersnot available
KeywordsPurpura fulminansMedicineProtein C deficiencyProtein CSepsisCompound heterozygosityFresh frozen plasmaLesionProtein SInternal medicineGastroenterologyPediatricsSurgeryThrombosisGenePhenotype

Abstract

fetched live from OpenAlex

A female newborn was transferred to the hospital due to progressive necrotic skin lesions. She was born full-term with an average birth weight and no prenatal or perinatal problems. She developed the first purplish skin lesion on her left buttock since postnatal day 1. She was initially treated with antibiotics under the impression of early-onset neonatal sepsis; however, her lesions worsened and rapidly progressed. The protein C chromogenic activity was remarkably decreased at below 10%, similar to a protein C antigen level below 1%, highly suggestive of severe congenital protein C deficiency. Molecular analysis revealed compound heterozygous likely pathogenic variants in the protein C gene. After the diagnosis, fresh frozen plasma (FFP) transfusions every 8 hours until the patient was stabilized and therapeutic low-molecular-weight heparin was started. She developed complications related to FFP administration, such as acute kidney injury, hypertension and proteinuria, during the interim period, awaiting the initiation of protein C concentrate replacement therapy.

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: Case report · Consensus signal: Case report
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.064
Threshold uncertainty score0.844

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
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)0.0000.000

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 head0.023
GPT teacher head0.285
Teacher spread0.263 · 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 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

Citations1
Published2025
Admission routes1
Has abstractyes

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