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Record W2949563565

305 CHYLOTHORAX IN AN INFANT WITH FEATURES OF PETERS PLUS SYNDROME.

2007· article· en· W2949563565 on OpenAlexaff
Guillaume Aubertin, Deborah E. McFadden, C J Lyons, G Sándor, R. Morrison Hurley, Sandro L. Yong

Bibliographic record

VenueJournal of Investigative Medicine · 2007
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Syndromes and Imprinting
Canadian institutionsUniversity of British Columbia
Fundersnot available
KeywordsMedicinePolyhydramniosDuctus arteriosusEtiologyChylothoraxCardiologyInternal medicinePathologyGestationPregnancy
DOInot available

Abstract

fetched live from OpenAlex

Peters Plus syndrome is a rare autosomal recessive condition associated with anterior eye chamber anomalies, disproportionate short stature, and developmental delay. There are characteristic facial features and increased rates of cardiac and renal malformations. We describe a case of a premature male infant with clinical features of Peters Plus syndrome, born to nonconsanguinous parents. There were prenatally detected bilateral nonimmune chylothoraces and ascites of unknown etiology. Postnatal findings included an anterior chamber defect of the right eye, bilateral preauricular ear pits, short midface, anteverted nares, prominent cupid9s bow of the upper lip, and a single umbilical artery. Echocardiography identified an enlarged right atrium and ventricle, a large patent ductus arteriosus, atrial septal defect, and poor global cardiac function. Bilateral cystic dysplastic kidneys were seen on a sonogram at birth. The course was complicated by pulmonary hypertension, respiratory failure requiring continuous ventilator support, impaired renal function, and persistent hydrops. The infant died at a corrected gestational age of 40 weeks from kidney and cardiac failure. Postmortem autopsy revealed extensive subendocardial right ventricular calcification, focal glomerulocystic changes of the kidneys, and disproportionately short limb measurements. Karyotyping and subtelomeric fluorescence in situ hybridization (FISH) were normal. A family history of Wilms9 tumor prompted FISH analysis for PAX6 and WT1 with no evidence of microdeletion. Chylothorax has not previously been described in association with Peters Plus syndrome and may represent an additional clinical manifestation.

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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.709
Threshold uncertainty score0.359

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.279
Teacher spread0.259 · 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 teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
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
Published2007
Admission routes1
Has abstractyes

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