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Record W4220842501 · doi:10.1002/art.42087

The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: <scp>CANDLE</scp>/<scp>PRAAS</scp>, <scp>SAVI</scp>, and <scp>AGS</scp>

2022· review· en· W4220842501 on OpenAlexafffund
Kader Cetin Gedik, Lovro Lamot, Micol Romano, Erkan Demirkaya, David Piskin, Sofia Torreggiani, Laura Adang, Thaís Armangué, Kathe Barchus, Devon Cordova, Yanick J. Crow, Russell C. Dale, Karen Durrant, Despina Eleftheriou, Elisa Fazzi, Marco Gattorno, Francesco Gavazzi, Eric P. Hanson, Min Ae Lee‐Kirsch, Gina A. Montealegre Sanchez, Bénédicte Neven, Simona Orcesi, Seza Özen, M. Cecilia Poli, Elliot Schumacher, Davide Tonduti, Katsiaryna Uss, Daniel Aletaha, Brian M. Feldman, Adeline Vanderver, Paul Brogan, Raphaela Goldbach‐Mansky

Bibliographic record

VenueArthritis & Rheumatology · 2022
Typereview
Languageen
FieldImmunology and Microbiology
Topicinterferon and immune responses
Canadian institutionsHospital for Sick ChildrenUniversity of TorontoLawson Health Research InstituteSickKids FoundationWestern University
FundersNational Institutes of HealthNational Institute of Arthritis and Musculoskeletal and Skin DiseasesRosetrees TrustNational Human Genome Research InstituteHamilton Health SciencesDeutsche ForschungsgemeinschaftNational Institute of Allergy and Infectious DiseasesAmerican College of Rheumatology Research and Education Foundation
KeywordsRheumatologyMedicineDiseaseInternal medicinePsychologyIntensive care medicine

Abstract

fetched live from OpenAlex

OBJECTIVE: Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome-associated autoinflammatory syndrome (CANDLE/PRAAS), stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI), and Aicardi-Goutières syndrome (AGS) are rare and clinically complex immunodysregulatory diseases. With emerging knowledge of genetic causes and targeted treatments, a Task Force was charged with the development of "points to consider" to improve diagnosis, treatment, and long-term monitoring of patients with these rare diseases. METHODS: Members of a Task Force consisting of rheumatologists, neurologists, an immunologist, geneticists, patient advocates, and an allied health care professional formulated research questions for a systematic literature review. Then, based on literature, Delphi questionnaires, and consensus methodology, "points to consider" to guide patient management were developed. RESULTS: The Task Force devised consensus and evidence-based guidance of 4 overarching principles and 17 points to consider regarding the diagnosis, treatment, and long-term monitoring of patients with the autoinflammatory interferonopathies, CANDLE/PRAAS, SAVI, and AGS. CONCLUSION: These points to consider represent state-of-the-art knowledge to guide diagnostic evaluation, treatment, and management of patients with CANDLE/PRAAS, SAVI, and AGS and aim to standardize and improve care, quality of life, and disease outcomes.

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)0.003
metaresearch head score (Gemma)0.014
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMetaresearch, Meta-epidemiology (narrow), Science and technology studies
Consensus categoriesMeta-epidemiology (narrow)
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.521
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0030.014
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0060.001
Bibliometrics0.0010.001
Science and technology studies0.0010.003
Scholarly communication0.0000.000
Open science0.0010.001
Research integrity0.0010.001
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 head0.025
GPT teacher head0.285
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; both teacher heads agree on what is shown here.

Study designNot applicable
Domainnot available
GenreReview

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

Citations45
Published2022
Admission routes2
Has abstractyes

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