Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β‐oxidation disorders in adult patients with rhabdomyolysis
Bibliographic record
Abstract
BACKGROUND: Plasma/serum and dried blood spot (DBS) acylcarnitine profiles (ACPs) are key to the diagnosis of mitochondrial fatty acid β-oxidation disorders (FAODs). Despite their significant clinical applications, limited published data exists to compare their sensitivities and specificities. We retrospectively evaluated these two methods in adult patients with a history of rhabdomyolysis; investigated for an underlying FAOD. METHODS: A retrospective study was completed for adult patients (investigated between 2003 and 2011) meeting the inclusion criteria of a history of recurrent rhabdomyolysis or one episode of rhabdomyolysis with a history of exercise intolerance. All subjects underwent investigations for an underlying FAOD including DBS and serum ACP analysis concurrently collected during a symptom-free period, and skin biopsy for cultured fibroblast fatty acid oxidation studies or enzyme activity measurement, as indicated, with or without molecular confirmation. Their medical records were reviewed, and the performance of the two methods were compared. RESULTS: Seven out of 31 subjects (22.6 %) were diagnosed with an underlying FAOD. Long chain acylcarnitines were more markedly elevated in serum samples from confirmed CPTII cases (n = 4) as compared to matched DBS profiles. The sensitivity and specificity of DBS ACP was 71.4 % (95 % CI, 0.30-0.95) and 100 % (95 % CI, 0.79-1.00), respectively, compared to a sensitivity of 100 % (95 % CI, 0.56-1.00) and a specificity of 94.7 % (95 % CI, 0.72-1.00) for serum ACP. CONCLUSION: FAODs appear to be a common cause of recurrent rhabdomyolysis or rhabdomyolysis with a history of exercise induced myalgia. At least historically, FAODs maybe underdiagnosed in adults with rhabdomyolysis. This study suggests that serum ACP might be more sensitive than DBS ACP for detection of an underlying FAOD in adults with rhabdomyolysis while asymptomatic.
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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 | 0.002 | 0.006 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 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".