A Breath of Fresh Air: Abstracts from the 2010 Canadian Respiratory Conference
Bibliographic record
Abstract
A 48 year old Caucasian women presents with approximately five year history of progressive dyspnea, orthopnea, hypersomnolence and proximal muscle weakness resulting in wheelchair use for mobilization.She was discovered to have sleep apnea, hypoventilation and chronic hypercapnic respiratory failure secondary to diaphragm and respiratory muscle weakness.She clinically benefited from institution of nocturnal noninvasive bilevel positive airway pressure (BIPAP) ventilation.Eventually, the diagnosis of Pompe disease was established by muscle biopsy.Pompe disease (glycogen storage disease type II, acid maltase deficiency) is a rare autosomal recessive genetic disorder that results in accumulation of glycogen in the lysosomal storage vacuoles.The imbalance promotes cell dysfunction and eventually cell death primarily in skeletal, cardiac muscle, hepatocytes and the nervous system.Three forms of acid maltase deficiency have been described: the infantile, juvenile and adult.In the adult form, in contrast to other neuromuscular diseases, severe respiratory failure may be the initial clinical feature and be preceded by only mild to moderate skeletal muscle weakness as in our case.Treatment, until recently have been supportive measures, and the overall prognosis was poor with the main cause of death being from respiratory failure.In 2006, Health Canada approved enzyme replacement therapy with alfa glucosidase (Myozyme®) as treatment for Pompe disease.This treatment has extended survival and improved quality of life with improvements in respiratory and motor function.Initial symptoms are often nonspecific and slowly progressive leading to delay in diagnosis.The importance of considering this Orphan Disease as a differential diagnosis in patients presenting with respiratory failure and muscle weakness has now become even more critical with the availability of effective treatment with enzyme replacement.We will present the clinical, pathological presentation and investigations along with current approach to management of Pompe disease.
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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 | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.002 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.003 | 0.002 |
| Insufficient payload (model declined to judge) | 0.100 | 0.032 |
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".