Muscle MRI in Classic InfantilePompe Disease
Bibliographic record
Abstract
Abstract Context: Neuromuscular imaging techniques are helpful tools to create a better understanding of pathophysiological processes of neuromuscular diseases. MRI has been used to study skeletal muscle damage in patients with late-onset Pompe disease. We used this technique to investigate the upper leg muscles of patients with classic infantile Pompe disease. Case report: Five patients with classic infantile Pompe disease were included. The median age was four months and none of the infants had yet been treated with enzyme replacement therapy. All patients had prominent muscle weakness and strikingly abnormal muscle histopathology sections taken from the lateral vastus muscle. Conclusions: MR images showed almost no abnormalities except for some hypertrophy of the muscles on T1 and T2-weighted images. The hypertrophic appearance of the muscles demonstrated using MRI in patients with classic infantile Pompe disease is consistent with the degree of muscle firmness palpated on clinical examination. Further investigation is required to establish if the hypertrophic appearance of muscles on MRI in classic infantile patients is related to the glycogen accumulation observed in muscle biopsies. Keywords: Pompe disease; Lysosomal storage disorder; Glycogen storage disease type II; MRI Muscle biopsy Abbreviations: AIMS: Alberta Infant Motor Scale; ERT Enzyme Replacement Therapy; GAA Acid α-glucosidase; MRI Magnetic Resonance Imaging; PAS Periodic Acid-Schiff; TR Repetition Time; TE Echo Time
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| 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".