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Record W2018050128 · doi:10.1002/ajmg.a.32250

Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome

2008· article· en· W2018050128 on OpenAlexfundno aff
William Reardon, I. Karen Temple

Bibliographic record

VenueAmerican Journal of Medical Genetics Part A · 2008
Typearticle
Languageen
FieldMedicine
TopicCerebral Venous Sinus Thrombosis
Canadian institutionsnot available
FundersHospital for Sick Children
KeywordsNephrocalcinosisCalciumMedicineEndocrinologyInternal medicineKidney

Abstract

fetched live from OpenAlex

Reports of SHORT syndrome have, to date, focused on the clinical features which lie at the core of the diagnosis but there has been little by way of report of long-term outcome, either in terms of medical complications or of intellectual development. We now report two children in whom nephrocalcinosis has developed and a third, adult, with similar findings. It may be that clinicians should be looking among cases of unexplained hypercalcaemia for an alternative phenotypic presentation of this short stature syndrome.

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)0.008
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 score0.013

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.008
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0020.001
Bibliometrics0.0040.002
Science and technology studies0.0020.003
Scholarly communication0.0020.001
Open science0.0010.002
Research integrity0.0050.004
Insufficient payload (model declined to judge)0.0020.000

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 head0.020
GPT teacher head0.297
Teacher spread0.277 · 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

Citations12
Published2008
Admission routes1
Has abstractyes

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Same venueAmerican Journal of Medical Genetics Part ASame topicCerebral Venous Sinus ThrombosisFrench-language works237,207