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Record W4411984888 · doi:10.1212/nxg.0000000000200276

Blood Biomarkers to Identify Renal Angiomyolipomas in People With Tuberous Sclerosis Complex

2025· article· en· W4411984888 on OpenAlex
Renaud Balthazard, Jimmy Li, Frédéric Loubert, Rose‐Marie Drouin‐Engler, Mélissa Boisclair, Perrine Coquelet, Audrey Nguyen, Rose‐Marie Rébillard, Nathalie Arbour, Philippe Major, Andrew A. House, Catherine Larochelle, Mark R. Keezer

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.
aboutThe title or abstract carries a Canadian signal from the geographic lexicon.

Bibliographic record

VenueNeurology Genetics · 2025
Typearticle
Languageen
FieldMedicine
TopicTuberous Sclerosis Complex Research
Canadian institutionsWestern UniversityUniversité de SherbrookeCentre Hospitalier Universitaire Sainte-JustineCentre Hospitalier Universitaire de SherbrookeUniversité de MontréalCentre Hospitalier de l’Université de Montréal
Fundersnot available
KeywordsTuberous sclerosisMedicinePathologyAngiomyolipomaKidneyInternal medicine

Abstract

fetched live from OpenAlex

Background and Objectives: Renal angiomyolipomas (AMLs) affect 80% of people with tuberous sclerosis complex (TSC) during their lifetime. We aimed to determine the diagnostic accuracy of blood biomarkers in identifying the presence and size of renal AMLs in people with TSC. Methods: We collected clinical data and serum samples from individuals followed at 1 TSC clinic (Centre hospitalier de l'Université de Montréal [CHUM] cohort). We also obtained clinical data and plasma samples from participants in the TSC Alliance Natural History Database and Biosample Repository (TSC Alliance cohort). We measured vascular endothelial growth factor D (VEGF-D), kidney injury molecule 1, neutrophil gelatinase-associated lipocalin (NGAL), and cystatin C concentrations in all individuals. We computed receiver operating characteristic curves for each biomarker and determined the optimal thresholds to identify AML vs no AML, and large AML (≥ 3 cm in diameter) vs small/no AML. Results: The CHUM and TSC Alliance cohorts included 41 (23 with AML) and 38 (26 with AML) individuals, respectively. In both cohorts, VEGF-D had the greatest area under the curve, with a sensitivity of at least 0.80 (95% CI 0.49-0.94) and a specificity of at least 0.97 (95% CI 0.83-0.99) in identifying large AML. When VEGF-D and cystatin C were combined, sensitivity increased to 0.96 (95% CI 0.79-0.99) and 1.00 (95% CI 0.72-1.00) for AML presence and size, respectively, in the CHUM cohort. Similar results were observed in a second, independent cohort (the TSC Alliance cohort) when combining VEGF-D and NGAL. Discussion: VEGF-D with either cystatin C or NGAL can accurately screen for large renal AMLs in people with TSC. Smaller renal AMLs can also be screened using these biomarkers, albeit with lower accuracy. Further research is necessary to determine how to implement these biomarkers in clinical practice.

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)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.302
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0010.002
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 head0.045
GPT teacher head0.327
Teacher spread0.281 · 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