Neurodegeneration in familial chylomicronemia syndrome
Bibliographic record
Abstract
Background & Objectives Familial chylomicronaemia syndrome (FCS) is a rare autosomal recessive disorder associated with markedly elevated triglyceride concentration and acute pancreatitis, but neuropathic pain and cognitive dysfunction are also increasingly recognised. This study undertook detailed quantification of somatic and autonomic neuropathy in participants with FCS. Methods Sixteen individuals with FCS and sixteen age and sex-matched controls underwent assessment of the lipid profile, neuropathic symptoms and disability, vibration perception, corneal confocal microscopy (CCM) and cardiac autonomic reflex testing. Results Age [36.4 (26.5 – 47.2) vs. 36.7 (31.3 – 46.9) years, p = 0.7], gender distribution [males 44% (n=7) vs. 50% (n=8), p = 0.7], body mass index (BMI) (23.7 [20.3-27.1] vs. 24.7 [22.3-27.2] kg/m 2 , p = 0.5), and HbA1c (36.0 [32.5 – 39.2] vs. 36.8 [33.0 – 38.0] mmol/mol, p = 0.9) were comparable between participants with FCS and controls. Triglycerides were significantly higher [23.7 (17.4 – 34.8) vs. 1.0 [0.7 – 1.3) mmol/L, p <0.001), whilst LDL-C [0.9 (0.7 – 1.2) vs. 2.7 (2.3 – 3.1) mmol/L, p <0.001) and HDL-C [0.4 (0.3 – 0.6) vs 1.5 [1.3 – 1.9] mmol/L, p <0.001) were lower in participants with FCS. The Neuropathy Symptom Profile score [4 (0 – 14) vs 0, p =0.003], Neuropathy Disability Score [1 (0 – 3.5) vs 0, p = 0.01] and vibration perception threshold [6.5 (4.7 – 8.1) vs 3.0 (2.0 – 3.5) volts, p <0.001] were higher, whilst corneal nerve fibre density [30.2 (27.3 – 32.3) vs 37.0 (32.5 – 38.5) no./mm 2 , p <0.001], corneal nerve branch density [54.1 (42.0 – 76.6) vs 100.5 (67.0 – 147.1) no./mm 2 , p <0.001], corneal nerve fibre length [20.0 (18.3 – 25.5) vs 27.5 (23.9 – 34.3) mm/mm 2 , p <0.001], deep breathing heart rate variability [17.0 (14.2 – 28.0) vs 29.5 (25.2 – 34.7) beats/min, p =0.002] and E–I ratio [1.18 (1.14 – 1.29) vs 1.36 (1.25 – 1.41), p =0.001] were lower in participants with FCS compared to controls. Conclusion FCS is associated with neuropathic symptoms, elevated vibration perception, small nerve fibre damage and cardiac autonomic dysfunction.
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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 | 0.002 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 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 | 0.001 |
| 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".