MétaCan
Menu
Back to cohort
Record W2076034746 · doi:10.1002/ajmg.a.30692

Association of migraine‐like headaches with Schimke immuno‐osseous dysplasia

2005· article· en· W2076034746 on OpenAlexafffund
Sara Şebnem Kılıç, Osman Dönmez, Emily A. Sloan, Leah I. Elizondo, Cheng Huang, Jean‐Luc André, Radovan Bogdanović, Sandra M. Cockfield, Isabel Cordeiro, Georges Deschênes, Stefan Fründ, Ilkka Kaitila, Giuliana Lama, Petra Lamfers, Thomas Lücke, David V. Milford, Lydia Najera, Francisco Rodrigo, Jorge Saraiva, Beate Schmidt, Graham C. Smith, Nastasa Stajic, Anja Stein, Doris Taha, Dorothea Wand, Dawna L. Armstrong, Cornelius F. Boerkoel

Bibliographic record

VenueAmerican Journal of Medical Genetics Part A · 2005
Typearticle
Languageen
FieldMedicine
TopicCongenital Ear and Nasal Anomalies
Canadian institutionsUniversity of Alberta
FundersHospital for Sick Children
KeywordsMedicineHeadachesMigraineDysplasiaDermatologyRefractory (planetary science)Internal medicineGastroenterologySurgery

Abstract

fetched live from OpenAlex

Schimke immuno-osseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia, nephropathy, and T-cell deficiency. SIOD is caused by mutations in the putative chromatin remodeling protein SMARCAL1. We report an 8-year-old boy with SIOD and recurrent, severe, refractory migraine-like headaches. Through a retrospective questionnaire-based study, we found that refractory and severely disabling migraine-like headaches occur in nearly half of SIOD patients. We have also found that the vasodilator minoxidil provided symptomatic relief for one patient. We hypothesize that these headaches may arise from an intrinsic vascular, neuroimmune, or neurovascular defect resulting from loss of SMARCAL1 function.

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)0.002
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.003
Threshold uncertainty score0.009

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0010.001
Scholarly communication0.0000.000
Open science0.0000.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0030.000

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 head0.008
GPT teacher head0.257
Teacher spread0.250 · 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 designObservational
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

Citations39
Published2005
Admission routes2
Has abstractyes

Explore more

Same venueAmerican Journal of Medical Genetics Part ASame topicCongenital Ear and Nasal AnomaliesFrench-language works237,207