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Record W1971981291 · doi:10.1002/ajmg.a.35531

Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy

2012· article· en· W1971981291 on OpenAlexaff
Judith G. Hall

Bibliographic record

VenueAmerican Journal of Medical Genetics Part A · 2012
Typearticle
Languageen
FieldMedicine
TopicNeurogenetic and Muscular Disorders Research
Canadian institutionsBC Children's HospitalUniversity of British Columbia
Fundersnot available
KeywordsArthrogryposisMuscle contracturePregnancyMedicineObstetricsPediatricsFamily historySurgery

Abstract

fetched live from OpenAlex

The purpose of this study was to establish whether an increase in failed termination of pregnancy is observed among individuals with arthrogryposis (multiple congenital contractures). A total of 2,500 unselected patients with arthrogryposis collected by the author over a 35-year period were reviewed. The cases included referrals, consultations, personal examinations, and correspondence. They were reviewed for clinical features, pregnancy complications, family history, and a history of attempted terminations of the pregnancy. Eleven cases of failed terminations of pregnancy in which the individuals were subsequently born with arthrogryposis were identified. We conclude that infants who survive attempted termination of pregnancy (both surgical and medical) may be at an increased risk to be born with multiple congenital contractures. Careful examination of the tissue and a post-procedure ultrasound will help to assure that the termination has been successful. Those infants surviving attempted termination of pregnancy who have arthrogryposis are also at >50% risk for intellectual disability.

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)0.010
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 score0.003
Threshold uncertainty score0.009

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.010
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0020.001
Science and technology studies0.0010.001
Scholarly communication0.0010.000
Open science0.0000.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0030.000

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 head0.018
GPT teacher head0.307
Teacher spread0.289 · 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

Citations19
Published2012
Admission routes1
Has abstractyes

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Same venueAmerican Journal of Medical Genetics Part ASame topicNeurogenetic and Muscular Disorders ResearchFrench-language works237,207