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Record W2288616999 · doi:10.3899/jrheum.151170

Genetic Markers in a Medieval Case of Ankylosing Spondylitis

2016· letter· en· W2288616999 on OpenAlexvenueno aff
Imanol Martín Laza, Montserrat Hervella, Concepción de la Rúa Vaca

Bibliographic record

VenueThe Journal of Rheumatology · 2016
Typeletter
Languageen
FieldMedicine
TopicSpondyloarthritis Studies and Treatments
Canadian institutionsnot available
Fundersnot available
KeywordsAnkylosing spondylitisMedicineAlleleSingle-nucleotide polymorphismHLA-B27AnkylosisSpondylitisPopulationDiseaseHuman leukocyte antigenImmunologyGeneticsPathologyBiologyGenotypeGeneSurgery

Abstract

fetched live from OpenAlex

To the Editor: Ankylosing spondylitis (AS) is a chronic rheumatic autoimmune disease that affects mainly the sacroiliac joints and spine, where it causes ankylosis through processes of inflammation and ossification. Although the exact accurate etiology of AS is unknown, the disease’s development has been shown to be influenced by genetic factors. The HLA-B27 allele is the strongest genetic marker associated with AS1, but there are other genes both within and outside the MHC that are involved in the development of AS. The most significant laboratory test in the diagnosis of AS involves detecting the presence of the allele HLA-B27, because 90–95% of patients with AS have this allele2. Nevertheless, this allele is found in about 10% of the world’s population; of them, only 5% ultimately develop this disease2. This means that when there are several radiological and clinical symptoms, detecting the allele HLA-B27 is not enough to diagnose the disorder. The aim of our study was to identify several genetic markers associated with the development of AS [HLA-B27 allele and single–nucleotide polymorphisms (SNP) in interleukin 23R ( IL-23R ) and … Address correspondence to I. Martín Laza, Department of Genetics, Physical Anthropology, and Animal Physiology, UPV/EHU, Barrio Sarriena s/n 48940 Leioa, Bizkaia, Spain. E-mail: imanol.martinl{at}ehu.es

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)0.001
metaresearch head score (Gemma)0.006
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: Empirical
Teacher disagreement score0.006
Threshold uncertainty score0.010

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.006
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.001
Science and technology studies0.0020.002
Scholarly communication0.0010.002
Open science0.0020.001
Research integrity0.0060.004
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 head0.014
GPT teacher head0.265
Teacher spread0.252 · 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

Citations10
Published2016
Admission routes1
Has abstractyes

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