A Case of Mitochondrial Disease First Diagnosed Over 30 Years After Onset
Bibliographic record
Abstract
Mitochondrial disease is induced by mutations in both mitochondrial DNA and DNA of nuclear genes that encode mitochondrial proteins, and there is a general lack of genotype-phenotype correlation in many mitochondrial disorders, which makes the diagnosis of mitochondrial disease difficult. We treated a 37-year-old woman with congenital cataract, bilateral sensory deafness, severe bilateral ptosis, oculomotor disorder in all directions and systemic muscular atrophy and weakness. These clinical characteristics made us perform further examinations, and we found ischemic change in brain and remarkable atrophy of extraocular muscles by magnetic resonance imaging (MRI), optic atrophy by fundus examination and high levels of serum lactate and lactate/pyruvate ratio, which confirmed the diagnosis of mitochondrial disease. Finally, she was diagnosed with having mitochondrial disease for over 30 years after onset. J Endocrinol Metab. 2018;8(6):149-152 doi: https://doi.org/10.14740/jem542
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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 | 0.004 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.003 | 0.002 |
| Science and technology studies | 0.004 | 0.001 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.006 | 0.004 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
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".