A Case of Kartagener Syndrome With Pulmonary Hypertension
Bibliographic record
Abstract
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous syndrome caused by defect in motile cilia. The true prevalence is unknown but estimated to affect 1:20,000 to 1:100,000 people. Estimated incidence is 1 per 10 to 20,000 births. In 1933, Kartagener described the PCD syndrome as the triad of situs inversus, bronchiectasis, and either nasal polyps or recurrent sinusitis, while the description by Afzelius in 1976 of the defects in the ultrastructure of ciliary dynein arms revealed the basis of this condition. Thus, clinical findings include respiratory distress in neonates, recurrent respiratory tract infections, bronchiectasis, situs inversus, infertility, and heterotaxy in approximately 50%. Here we report a rare case of a young female with recurrent respiratory symptoms, dextrocardia, and situs inversus, who was misdiagnosed as a case of pulmonary tuberculosis and had received three courses of anti-tubercular therapy since year 2003, and finally diagnosed as Kartagener syndrome with severe pulmonary hypertension. J Med Cases. 2016;7(8):326-330 doi: http://dx.doi.org/10.14740/jmc2412w
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.004 | 0.002 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
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 source (direct Gemma or distilled Codex), 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".