MétaCan
Menu
Back to cohort
Record W2601982255 · doi:10.14740/jh315w

A Unique Neuropsychiatric Syndrome in Variant Hereditary Coproporphyria: Case Report and Review of the Literature

2017· article· en· W2601982255 on OpenAlexvenueno aff
Alexander J. Baumgartner, Peter J. Quesenberry

Bibliographic record

VenueJournal of Hematology · 2017
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicPorphyrin Metabolism and Disorders
Canadian institutionsnot available
Fundersnot available
KeywordsPorphyriaMedicineAcute intermittent porphyriaConfusionDermatologyPathophysiologyEtiologyPediatricsPsychiatryPathologyPsychologyPsychoanalysis

Abstract

fetched live from OpenAlex

Hereditary coproporphyria (HCP) is the third most common of the acute porphyrias, after acute intermittent porphyria and variegate porphyria. It is caused by decreased activity of the sixth step in the heme biosynthetic pathway. Here we present a case of a woman with HCP who has experienced a wide variety of symptoms over several years. Most interesting among these is a unique neuropsychiatric syndrome marked by severe confusion, disorientation, and abnormal behavior. The literature is reviewed regarding the pathophysiology and management of neuropsychiatric manifestations of porphyria. As many other diagnoses are often considered before the diagnosis of porphyria is made, clinicians should keep in mind the highly variable neurological and psychiatric symptoms of porphyria.

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)0.001
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: none
Teacher disagreement score0.006
Threshold uncertainty score0.008

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0020.001
Bibliometrics0.0060.004
Science and technology studies0.0010.001
Scholarly communication0.0010.002
Open science0.0020.001
Research integrity0.0030.001
Insufficient payload (model declined to judge)0.0030.001

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 head0.005
GPT teacher head0.254
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 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
Published2017
Admission routes1
Has abstractyes

Explore more

Same venueJournal of HematologySame topicPorphyrin Metabolism and DisordersFrench-language works237,207