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Record W4366083870 · doi:10.1002/jimd.12612

Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network

2023· article· en· W4366083870 on OpenAlexaff
Penelope E. Stein, Yonatan Edel, Razan Mansour, Reem A. Mustafa, Sverre Sandberg

Bibliographic record

VenueJournal of Inherited Metabolic Disease · 2023
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicPorphyrin Metabolism and Disorders
Canadian institutionsMcMaster UniversityImpact
FundersSanofi GenzymeAgios PharmaceuticalsMitsubishi Tanabe Pharma CorporationVertex PharmaceuticalsGenesis PharmaKarolinska InstitutetModernaRecordati Rare DiseasesBristol-Myers SquibbNational Institutes of HealthAlnylam PharmaceuticalsSanofi
KeywordsDelphi methodBrainstormingDelphiMedicinePorphyriaIntensive care medicineComputer scienceDermatologyArtificial intelligence

Abstract

fetched live from OpenAlex

Acute porphyrias are a group of rare inherited disorders causing acute neurovisceral attacks. Many terms used frequently in the literature and clinical practice are ambiguous, which can lead to confusion in the way patients are managed, studied, and reported in clinical studies. Agreed definitions are a necessary first step in developing management guidelines and will facilitate communication of results of future clinical research. The Delphi method was used to generate consensus on key terms and definitions in acute porphyria. The process started with a brainstorming phase offered to all members of the European Porphyria Network followed by two Delphi rounds among international experts in the field of porphyria (the Acute Porphyria Expert Panel). A consensus of 75% or more was defined as the agreement threshold. A total of 63 respondents from 26 countries participated in the brainstorming phase, leading to the choice of nine terms and definitions. A total of 34 experts were invited to take part in the Delphi rounds. Seven of the initial nine terms and definitions which entered the first Delphi round achieved the threshold for agreement. Following a second Delphi round, all nine definitions achieved agreement. Agreement on the definitions for nine important terms describing acute porphyrias represents a significant step forward for the porphyria community. It will facilitate more accurate comparison of outcomes among porphyria centres and in clinical trials and provide a strong framework for developing evidence-based clinical guidelines.

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)0.268
metaresearch head score (Gemma)0.254
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesMetaresearch
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Qualitative · Consensus signal: Qualitative
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.268
Threshold uncertainty score0.902

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.2680.254
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0010.002
Bibliometrics0.0050.004
Science and technology studies0.0040.008
Scholarly communication0.0050.007
Open science0.0020.017
Research integrity0.0020.005
Insufficient payload (model declined to judge)0.0040.001

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 head0.015
GPT teacher head0.262
Teacher spread0.247 · 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.

Study designQualitative
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

Citations42
Published2023
Admission routes1
Has abstractyes

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