Characterizing individuals with elevated sweat chloride results in the absence of CFTR variants
Bibliographic record
Abstract
BACKGROUND: Cystic fibrosis (CF) is a multi-system disease caused by CFTR dysfunction. Genetic defects in the CFTR protein cause impaired chloride and bicarbonate secretion on the apical surface of epithelial cells throughout the body. Classically, the diagnosis of CF is established based on a clinical presentation suggestive of CF along with two elevated sweat chloride test results (≥ 60 mmol/L) or the presence of two pathogenic disease-causing CFTR variants. This study aimed to characterize and compare a subset of patients who present with a CF-like phenotype and elevated sweat chlorides with ('CF control') vs. without ('cases') disease-causing CFTR variants. RESULTS: Cases were found to have more upper respiratory tract symptoms (sinusitis, nasal polyps, and recurrent sinus infections) compared to CF controls. Furthermore, cases experienced fewer pulmonary exacerbations per year, had less evidence of bronchiectasis, peribronchial thickening, and mucus plugging on CT scan imaging, and fewer organisms identified on sputum microbiology. Compared to CF controls, cases were also noted to have fewer gastrointestinal and genitourinary manifestations of CF. CONCLUSION: The clinical features of patients with elevated sweat chlorides in the absence of CFTR variants are distinct from patients with CFTR variants and comparable sweat chlorides. Further investigation into this subset of patients may elucidate alternative causes for this CF-like phenotype.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 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 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".