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Record W4407723659 · doi:10.1210/clinem/dgaf103

Lipodystrophy Severity Score to Assess Disease Burden in Lipodystrophy

2025· article· en· W4407723659 on OpenAlexaff
Rebecca J. Brown, Barış Akıncı, Matheos Yosef, Helen Phillips, Shokoufeh Khalatbari, Ekaterina Sorkina, Ferruccio Santini, Corinne Vigouroux, Maiah Brush, Rasimcan Meral, Giovanni Ceccarini, Müjdat Zeybel, Flavia Prodam, Julia von Schnurbein, Gian Pio Sorice, Merve Çelik Güler, Nivedita Patni, Seher Tanrıkulu, Saif Al-Yaarubi, Maria Cristina Foss‐Freitas, Seçil Özışık, Bérénice Segrestin, Büşra Özcan, Süleyman Cem Adıyaman, Gianluca Musolino, Hilal Sekizkardes, Carla Musso, Yael Lebenthal, Samim Özen, Vinaya Simha, İlgın Yıldırım Şimşir, Anna Stears, Thomas Scherer, Alessandra Gambineri, Josivan Gomes Lima, Robert K. Semple, Martin Wabitsch, David Araújo‐Vilar, Robert A. Hegele, Elif A Oral

Bibliographic record

VenueThe Journal of Clinical Endocrinology & Metabolism · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicNuclear Structure and Function
Canadian institutionsWestern University
FundersChiesi Farmaceutici
KeywordsLipodystrophyDyslipidemiaMedicineInsulin resistanceContext (archaeology)Internal medicineDiabetes mellitusIntraclass correlationEndocrinologyPsychometricsClinical psychologyBiologyImmunology

Abstract

fetched live from OpenAlex

CONTEXT: Lipodystrophy syndromes are rare disorders characterized by deficient adipose tissue, leading to insulin resistance, dyslipidemia, and organ system abnormalities. OBJECTIVE: Our goal was to develop a lipodystrophy severity score (LDS) to holistically capture the diverse manifestations of lipodystrophy into a numerical score to aid in prediction of clinical outcomes and/or treatment impact. DESIGN: An 8-domain LDS was developed by 8 disease experts in consultation with patient organizations. The LDS was rated for feasibility and content validity by 28 additional clinicians and 9 patient representatives. LDS was compared to the Clinical Global Impression (CGI) of severity for 20 putative patient profiles, each at 2 different time points, and by comparing change in LDS to global impression of change. For external validation, LDS was calculated in 2 cohorts of patients with lipodystrophy treated with metreleptin. RESULTS: LDS domains include Diabetes/Insulin Resistance, Microvascular Complications of Diabetes, Lipids, Cardiovascular, Liver, Kidney, Reproductive, and Other. Each domain is assessed by 1 or more questions assessing both lifetime and recent complications of lipodystrophy. The LDS had high content validity and feasibility and high reliability by intraclass correlation coefficients (>0.95). Global and domain-specific LDS were strongly correlated with CGI, as were changes in scores across visits (R = 0.79-0.99, P < .001 for all). In generalized lipodystrophy, metreleptin significantly reduced LDS (from 46 to 26 at 12 months, P < .001). The reductions were smaller in partial lipodystrophy (from 65 to 61 at 12 months, P = .04). CONCLUSION: The LDS can reflect the severity of diverse manifestations of lipodystrophy and monitor changes following interventions.

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)0.001
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.480
Threshold uncertainty score0.476

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0000.001
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 head0.033
GPT teacher head0.353
Teacher spread0.320 · 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

Citations7
Published2025
Admission routes1
Has abstractyes

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