Alpha <sub>1</sub> -Antitrypsin Deficiency: Genetic, Clinical and Functional Correlations in a Three Generation Family
Bibliographic record
Abstract
alpha1-antitrypsin (alpha1-AT) deficiency is a hereditary condition transmitted as an autosomal codominant trait. Fully deficient homozygotes develop chronic obstructive pulmonary disease at an early age. It remains controversial whether heterozygotes develop some degree of airway disease at an early age which results in severe obstructive disease later in life. We studied 12 alpha1-AT-deficient members of a family spanning three generations by extensive pulmonary function tests, clinical history and genetic determinations. 3 of the subjects were homozygotes and showed important clinical and lung function abnormalities by the age of 30. Two out of 9 heterozygotes, a female and a male, had decreased dynamic compliance, elevated closing volume and low PaO2. 3 showed clinical and physiological abnormalities (elevation in functional residual capacity and residual volume, low FEV1/FVC and elevated closing volume); however, these alterations could be attributed to their smoking habits or concomitant medical condition. The remaining 4 subjects were normal. None of the heterozygotes showed alterations in the static elastic recoil of the lung or static compliance.
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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 | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| 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".