PEO1 Gene (Twinkle) Mutation and Multi-Organ Failure Following Propofol Infusion (IN7-1.005)
Bibliographic record
Abstract
Objective: Present a case of mitochondrial myopathy and multi-organ failure following propofol infusion. Background Mitochondrial DNA deletions are associated with a variety of clinical syndromes including chronic progressive external ophthalmoplegia (CPEO) due to nuclear as opposed to mitochondrial mutations. The nuclear PEO1 gene encodes for Twinkle, a helicase required for mitochondrial DNA replication and stability. Clinically, autosomal dominant Twinkle mutations are associated with CPEO. POLG mutations result in defects in the DNA polymerase gamma and can be associated with either autosomal dominant or autosomal recessive CPEO. Mitochondrial myopathies are associated with a sensitivity to propofol, and patients are more susceptible to developing a propofol infusion syndrome with resultant multi-organ dysfunction. Design/Methods: Literature review and illustrative case. Results: A 62-year old woman with a history of congenital ptosis and ophthalmoplegia was admitted for elective right eye enucleation for a corneal ulcer following levator resection. During the procedure, she was given propofol for anesthesia and the surgery was uneventful. Postoperatively, she developed a series of medical complications including Takotsubo cardiomyopathy, congestive heart failure, acute renal failure, and encephalopathy. She also developed dysarthria, bifacial and proximal muscle weakness, and difficulty weaning from the ventilator. Muscle biopsy was done showing a mitochondrial myopathy with scattered ragged red fibers and cytochrome oxidase negative muscle fibers. Genetic analysis showed nuclear mutations in the PEO1 and POLG genes. Conclusions: This patient had a mitochondrial myopathy presenting with CPEO, and after elective surgery, developed muti-organ dysfunction. She had the PEO1 mutation in addition to a POLG mutation. The literature on propofol use in mitochondrial myopathies is limited, but it has been associated with propofol infusion syndrome, and may have led to her poor clinical course. Disclosure: Dr. Harrison has nothing to disclose. Dr. Valerio has nothing to disclose. Dr. Buffam has nothing to disclose. Dr. Mezei has received personal compensation for activities with Genzyme as a speaker.
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How this classification was reachedexpand
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 | 0.001 |
| 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 itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, 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".