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Record W1162943242 · doi:10.1055/s-0035-1557280

Clinicopathological findings in mitochondrial disorders

2015· article· en· W1162943242 on OpenAlexaff
Harvey B. Sarnat

Bibliographic record

VenueJournal of Pediatric Neurology · 2015
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMetabolism and Genetic Disorders
Canadian institutionsUniversity of Calgary
Fundersnot available
KeywordsMitochondrial EncephalomyopathiesMedicineMitochondrial diseaseSpinal muscular atrophyValproic AcidDiseaseAtrophyDysplasiaBioinformaticsPathologyMitochondrial myopathyMitochondrial DNANeuroscienceEpilepsyGeneticsBiologyPsychiatry

Abstract

fetched live from OpenAlex

Mitochondrial encephalomyopathies have shifted from being regarded just a few years ago as a category of rare metabolic diseases to a current recognition that they are much more common than previously thought, are a large and heterogeneous group of distinct diseases, and that they may occur not only as primary biochemical and genetic defects, but also as secondary defects in a wide spectrum of both genetic and acquired diseases of the nervous system ranging from Pompe disease (glycogenosis II, acid maltase deficiency), spinal muscular atrophy, septo-optic-pituitary dysplasia, some inflammatory myopathies, and secondary to a broad range of drugs that include immunosuppressive and chemotherapeutic agents, statins and valproic acid. Most of the research on mitochondrial diseases has been generated, not surprisingly, in the countries with the greatest funding and biochemical laboratory resources for investigating them, including detailed biochemical and genetic studies, neuroimaging and neuropathological studies, mainly from western Europe and North America. It is therefore encouraging to see studies of mitochondrial diseases eminating also from countries with fewer resources, such as the paper by Selim et al. [1] from Egypt, in this current issue of the JPN.

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)0.003
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.006
Threshold uncertainty score0.020

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.003
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0020.001
Science and technology studies0.0010.001
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0060.002

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 head0.017
GPT teacher head0.273
Teacher spread0.256 · 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 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

Citations0
Published2015
Admission routes1
Has abstractyes

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