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Record W4406307023 · doi:10.1093/ckj/sfae408

A puzzling renal Fanconi syndrome

2024· article· en· W4406307023 on OpenAlex

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.

Bibliographic record

VenueClinical Kidney Journal · 2024
Typearticle
Languageen
FieldMedicine
TopicBiomedical Research and Pathophysiology
Canadian institutionsUniversité Laval
Fundersnot available
KeywordsFanconi syndromeMedicineFanconi anemiaBiologyGeneticsInternal medicineKidneyDNADNA repair

Abstract

fetched live from OpenAlex

ABSTRACT Renal Fanconi syndrome (FS) can be either acquired or inherited. When FS presents at a young age, it is typically inherited, with cystinosis being the most common cause. In this report we describe a rare cause of autosomal dominant Fanconi syndrome, Fanconi renotubular syndrome type 3 (FRTS3), caused by the already reported heterozygous p.E3K variant in the EHHADH gene. Only two FRTS3 families have been reported in the literature, and the kidney function was stated as normal or only slightly decreased into late life. Our family expands the spectrum of FRTS3, with some individuals showing only glucosuria and mild low-molecular-weight proteinuria, while others exhibited complete Fanconi syndrome with rickets. Importantly, we observed impairment of kidney function at a young age in our proband, highlighting a broader phenotypic variability associated with FRTS3.

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.

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)0.002
metaresearch head score (Gemma)0.007
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesResearch integrity, Insufficient payload (model declined to judge)
Consensus categoriesInsufficient payload (model declined to judge)
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.288
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.007
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.003
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 head0.075
GPT teacher head0.451
Teacher spread0.376 · 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