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Record W4413450272 · doi:10.33552/accs.2024.04.000588

Effects of Metformin on Individuals with Fragile X Syndrome and Additional Genetic Variants

2024· article· en· W4413450272 on OpenAlexfundno aff
Van Kim

Bibliographic record

VenueArchives of Clinical Case Studies · 2024
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetics and Neurodevelopmental Disorders
Canadian institutionsnot available
FundersIntellectual and Developmental Disabilities Research CenterAzrieli Foundation
KeywordsMetforminFragile X syndromeGeneticsFragile xMedicineBiologyDiabetes mellitusGeneEndocrinology

Abstract

fetched live from OpenAlex

Background/Objectives: Fragile X syndrome (FXS) is caused by more than 200 CGG repeats in the promoter region of the fragile X messenger ribonucleoprotein (FMR1) located at Xq27.3. While clinical characteristics may vary, most individuals have intellectual disability, speech/language delays, and behavioral disturbances including social anxiety, inattention, hyperactivity, impulsiveness, and aggression. The presence of additional genetic variants is associated with a more severe phenotype in individuals with FXS. Metformin is being studied as a potential targeted treatment for individuals with FXS with studies showing improvements in language and behavior after metformin treatment. This is the first report on the positive benefits of metformin in individuals with FXS and additional genetic variants.

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)0.002
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: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.004
Threshold uncertainty score0.013

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0040.000

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 head0.323
Teacher spread0.303 · 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

Citations0
Published2024
Admission routes1
Has abstractyes

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