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Record W3143382887 · doi:10.14740/jmc2533w

Familial Hyperlipidemia Screening, Treatment and New Considerations

2016· article· en· W3143382887 on OpenAlexvenueno aff
Shauna Wentzell, Mary Ryan, Vivion Crowley

Bibliographic record

VenueJournal of Medical Cases · 2016
Typearticle
Languageen
FieldMedicine
TopicLipoproteins and Cardiovascular Health
Canadian institutionsnot available
Fundersnot available
KeywordsMedicineFamilial hypercholesterolemiaHyperlipidemiaDiseasePediatricsPopulationGenetic testingPresentation (obstetrics)Internal medicineCholesterolSurgeryEndocrinologyEnvironmental healthDiabetes mellitus

Abstract

fetched live from OpenAlex

We present a case of a 47-year-old male who came to the endocrinology department at the request of his GP. He was noted to have elevated lipid levels, twice the normal range. Genetic testing was performed which showed he was heterozygous for familial hypercholesterolemia (FH). His three children subsequently had their lipid levels tested. They all had elevated lipids (cholesterol and LDL) and tested positive for FH. This case highlights the importance of lipid screening in children as the prevalence of FH is 1 in 200, which is higher than previously thought. This has led to the underdiagnosis of FH in both the pediatric and adult population. Often on initial presentation of the disease, irreversible damage has been done increasing the patients’ morbidity and mortality. With newer drugs being introduced and the persistent push by the National Heart, Lung and Blood Institute Expert Panel towards initiating a child screening protocol, there is hope that this disease will be manageable and less detrimental to those affected. J Med Cases. 2016;7(7):258-259 doi: https://doi.org/10.14740/jmc2533w

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)0.000
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: Not applicable · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.002
Threshold uncertainty score0.007

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.002
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0010.001
Science and technology studies0.0020.001
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0020.003
Insufficient payload (model declined to judge)0.0020.000

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 head0.071
GPT teacher head0.334
Teacher spread0.263 · 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 designNot applicable
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
Published2016
Admission routes1
Has abstractyes

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