Alpha 1 Antitrypsin deficiency associated with the Mmalton variant: an EARCO Research project.
Bibliographic record
Abstract
Introduction: Pi*Mmalton is a rare variant of alpha-1-antitrypsin (AAT) deficiency, associated with low AAT levels. However, little is known about this variant. Our study aims to analyze all the patients with at least one Pi*Mmalton allele registered in EARCO and compare them with Pi*ZZ regarding demographic, clinical, and lung function parameters. Methods: We analyzed data from the EARCO registry until September 2023. Results: We identified 59 (2.84%) Pi*Mmalton patients (64.4% men;mean age 52±17.1 yo), predominantly ex-smokers (63.8%), mean pack year of 20. Mmalton/M patients were excluded, and the majority were Mmalton/S(42%) and Mmalton/Z(41%). Median AAT level of 25 (22-54) mg/dL. In 67.8%, there was lung disease, particularly physician-diagnosed COPD (47.5%), emphysema (45.8%) and bronchiectasis (13.6%). They exhibited a mild obstructive pattern (mean FEV1 73.4%; FEV1/FVC 0.62), with mild DLCO impairment (mean DLCO 69.9%), and they were relatively asymptomatic (mean CAT 8.4 and mean BODEx 1.6). When compared with Pi*ZZ, Pi*Mmalton individuals had a similar smoking history and similar AAT levels (p>0.05) but higher pack-years (20 versus 15, p=0.010). Emphysema was less prevalent in Pi*Mmalton (45.8%)when compared to Pi*ZZ patients (61.2%, p=0.028), but similar rates of COPD, asthma, and bronchiectasis. Although they had similar rates of exacerbations and lung function they were less symptomatic than Pi*ZZ patients, with lower CAT (8.4±7.5 vs 13.5±9.6, p<0.001) and BODEx scores (1.6±1.5 vs 2.0±2.0, p=0.043). Conclusion: Pi*Mmalton patients, like Pi*ZZ, have a low level of AAT and a high risk of developing obstructive lung disease. However, they were less symptomatic than Pi*ZZ patients.
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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 | 0.002 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.003 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.004 | 0.002 |
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".