Going beyond the chest X‐ray: Investigating laterality defects in primary ciliary dyskinesia
Bibliographic record
Abstract
BACKGROUND: Organ laterality defects in primary ciliary dyskinesia (PCD) are common, ranging from complete mirror image organ arrangement, situs inversus totalis (SIT), to situs ambiguus (SA), which falls along the spectrum of situs solitus (SS) and SIT. Targeted investigations for organ laterality defects are not universally recommended in PCD consensus statements. Without investigations beyond chest radiography (CXR), clinically significant defects may go undetected leading to increased morbidity. We hypothesize that clinically significant SA defects remain undetected on CXR and targeted investigations are needed to detect various laterality defects associated with morbidity. METHODS: This retrospective study collected data from PCD clinics at two Canadian children's hospitals from 2012 to 2020. Participants <30 years old with a confirmed or clinical diagnosis of PCD were enrolled. CXR images were reviewed, and reports of other targeted investigations, including chest computed tomography, abdominal ultrasound, echocardiogram, upper gastrointestinal series, and splenic function studies, were extracted from medical records. Situs classifications from CXR alone versus CXR with add-on targeted investigations were compared using Cochran's q and McNemar tests. RESULTS: One hundred and fifty-nine PCD patients were included, median age at PCD diagnosis of 6.1 years (range: 0-28). The situs classification differed significantly from CXR images alone versus CXR with add-on targeted investigations (p < 0.001); SS 88 (55%) versus 75 (47%), SIT 59 (37%) versus 46 (29%), and SA 12 (8%) versus 38 (24%). Identified SA defects were cardiovascular (21, 13%), intestinal (9, 6%), and/or splenic (16,10%). CONCLUSIONS: In PCD patients, clinically significant SA defects may not be detected by CXR alone. Our results suggest that the routine use of CXR with add-on targeted investigations may be justified.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot 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.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
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".