MétaCan
Menu
Back to cohort
Record W4414526620 · doi:10.1210/jcemcr/luaf221

Late Diagnosis of Prader-Willi Syndrome in an Adolescent With Significant Complications of Type 2 Diabetes

2025· article· en· W4414526620 on OpenAlexaff
Alyssa Kahane, Emma Metivier, Allison Bahm, Jill Hamilton

Bibliographic record

VenueJCEM Case Reports · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Syndromes and Imprinting
Canadian institutionsHospital for Sick Children
Fundersnot available
KeywordsType 2 diabetesGlycated hemoglobinDiabetes mellitusSocioeconomic statusNephrotic syndromeType 1 diabetes

Abstract

fetched live from OpenAlex

Youth-onset type 2 diabetes (YO-T2D) is on the rise and disproportionately affects those from low socioeconomic status and specific ethnic and racial minority groups. YO-T2D has a more aggressive phenotype than adult-onset T2D. We present a case of a 14-year-old patient who presented after a fall and was found to be acutely unwell with significant peripheral edema. Initial investigations indicated hyperglycemic hyperosmolar state, acute kidney injury, and nephrotic range proteinuria, leading to a new diagnosis of T2D. Subsequent evaluation revealed mild retinopathy and diabetic nephropathy. Sixteen months prior, glycated hemoglobin (HbA1c) was > 16% (reference range, ≤ 6.0%) with no treatment initiated at that time. The patient was initially treated with multiple daily insulin injections prior to starting empagliflozin-metformin. The presence of developmental delays, short stature, and hypogonadism prompted genetic testing, which confirmed a diagnosis of Prader-Willi syndrome, a neurodevelopmental disorder associated with hyperphagia and early-onset obesity. This case underscored the severity of YO-T2D, risks of delayed healthcare access, and considerations for optimal diabetes management.

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)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation 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 score0.335

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
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 integrity0.0000.000
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 head0.014
GPT teacher head0.260
Teacher spread0.246 · 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 teacher head, 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

Citations0
Published2025
Admission routes1
Has abstractyes

Explore more

Same venueJCEM Case ReportsSame topicGenetic Syndromes and ImprintingFrench-language works237,207