The regulation of growth in glycogen storage disease type 1
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Bibliographic record
Abstract
OBJECTIVE: To study endocrine and metabolic variables that affect growth in patients with glycogen storage disease type 1 (GSD-1) receiving standard dietary therapy. DESIGN: Observational study. PATIENTS AND MEASUREMENTS: Thirty-eight patients with GSD-1, age range 0.6-32.9 years, were investigated on their usual dietary regimens. Data on height, height velocity in prepubertal children, endocrine and metabolic responses to oral glucose load, 24-h serum cortisol and GH concentration profiles and serum IGF-1 concentrations were collected. RESULTS: The population studied was shorter than average, with a median height standard deviation score (SDS) of -1.60, but significantly taller than a historical population studied at the same institution that had not received dietary therapy at the time of study. A wide range of height SDS was encountered (-5.28 to 1.21) and a subset still exhibit marked growth failure. Median body mass index (BMI) SDS was 0.72 (range -1.34 to 3.96). Those patients with the greatest BMI SDS had the lowest serum GH concentrations but serum IGF-1 concentrations were within the normal range. Patients with the poorest growth exhibit low serum insulin concentration responses to glucose load, GH insensitivity and higher mean 24-h plasma cortisol levels when compared to those patients who were better grown. CONCLUSION: This study shows that overall the growth of this group of patients with glycogen storage disease type 1 has improved compared to that of a historical control group. There remains a subset of this population with poor growth despite therapy. The measured endocrine responses in this subset are similar to those reported for untreated patients. To improve the growth further in these individuals it will be necessary to understand whether this is failure of prescribed therapy or failure to comply with therapy.
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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 | 0.003 |
| 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 it