Metabolic diseases
Bibliographic record
Abstract
Aim & Method: To describe the features of two children with Prader-Willi Syndrome (PWS) and Complex-1 deficiency.Results: Two children presented as neonates with hypotonia, feeding difficulties and growth retardation.Development was subsequently delayed.CPK, thyroid function, VLCFAs, ammonia and organic acids were normal.Serum lactate was normal in Case 1 and mildly elevated in Case 2. ABRs revealed delayed conductions of waves I-III.VEPs, EMG, NCS were normal.Neuroimaging showed mild cerebral volume loss.Muscle biopsy revealed a normal checkerboard pattern of Type I and II fibres and 1 mottled fibre (Gomori-trichrome staining) in Case I. Type II fibres predominated in Case 2. Mitochondrial stains for NADH, LDH, SDH and COX were normal.E/M revealed normal mitochondria and no lipid or glycogen accumulation.Mitochondrial enzyme analysis demonstrated unmeasurable NADH cytochrome-Creductase activity in Case 1 and decreased activity of 11.7 nmol/min/mg mitochondrial protein (controls 94.6± 9.5) in Case 2. Succinate cytochrome-C-reductase activity was reduced in Case 2 at 47 (controls 102 ± 6.9) but normal in Case 1. COX activities were normal.In skin fibroblasts the lactate/pyruvate ratio was slightly elevated.The Prader-Willi phenotype became evident after 1 year of age.No deletion was detected in region 15q11-q13 with G-banding or FISH, however the methylation pattern was abnormal.Parental samples confirmed maternal uniparental heterodisomy of PWS. Conclusion:The occurence of Complex-1 deficiency in PWS is likely a secondary rather than a primary event, but may contribute to the PWS clinical phenotype in certain cases.
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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 | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.011 | 0.003 |
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".