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Record W2157028160 · doi:10.1136/heart.86.6.709

The diagnosis of hypertrophic cardiomyopathy

2001· review· en· W2157028160 on OpenAlexaff
E.Douglas Wigle

Bibliographic record

VenueHeart · 2001
Typereview
Languageen
FieldMedicine
TopicCardiomyopathy and Myosin Studies
Canadian institutionsToronto General HospitalUniversity Health NetworkUniversity of Toronto
Fundersnot available
KeywordsHypertrophic cardiomyopathyMedicineMendelian inheritanceSudden deathDiseaseCause of deathCardiomyopathySudden cardiac deathPediatricsCardiologyInternal medicineHeart failureGeneticsBiology

Abstract

fetched live from OpenAlex

Although the pathology of hypertrophic cardiomyopathy (HCM) was first described by French pathologists in the mid 19th century, it remained for the virtually simultaneous reports of Brock and Teare in England some 43 years ago to bring modern attention to this fascinating entity.1 2 Subsequent to these surgical1 and pathological2 observations, there has been an almost exponential growth in the number of research reports and in our knowledge of HCM, and a number of extensive reviews have been published.3-9 HCM was initially thought to be relatively rare, but it is now recognised to be an important cause of morbidity and mortality in people of all ages. In tertiary referral populations the annual mortality is 3–4% per annum (higher in the young) and 1–2% per annum in non-referred populations. It occurs in 1 in 500 live births, making it as common as cystic fibrosis, and is the most common cause of sudden death during athletic endeavour in young people. The diagnosis of HCM is therefore of great importance, particularly in the young where sudden death is such a risk. More recently, the results of molecular genetic studies have resulted in a quantum leap in our basic knowledge and understanding of the Mendelian dominant inheritance of HCM and have far reaching prognostic and clinical implications. HCM is now described as a heterogeneous disease of the sarcomere in that more than 150 different mutations in 10 different sarcomeric proteins have been shown to cause HCM8 (table 1). These molecular genetic studies are already having important clinical implications in that some mutations carry a benign prognosis, whereas others, possibly interacting with various growth factors, have increased penetrance, early onset of manifestations, and a bad prognosis, thus explaining the malignant family history noted in some instances. Because of the time …

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)0.005
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: Review · Consensus signal: none
Teacher disagreement score0.016
Threshold uncertainty score0.054

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.005
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0020.001
Science and technology studies0.0010.001
Scholarly communication0.0010.001
Open science0.0010.002
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0160.007

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 head0.072
GPT teacher head0.348
Teacher spread0.276 · 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
GenreReview

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

Citations98
Published2001
Admission routes1
Has abstractyes

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