Decreased nasal nitric oxide in children with isolated midline neuroanatomical defects: a possible indicator of ciliary dysfunction?
Bibliographic record
Abstract
Background: Ciliary mutations cause multi-system disorders, often involving the CNS. We set to evaluate the prevalence of ciliary dysfunction in children with isolated neuroanatomical defects, by measuring nasal nitric oxide (nNO), a screening test for Primary Ciliary Dyskinesia (PCD). Study design: We measured nNO levels of 26 children with congenital midline CNS defects. We evaluated the effect of age, gender, and anomaly (brain, spinal cord, or combined) on measurements. We compared our results to the previously established normal range (153.6-509.9 nL/min), and to the cutoff for PCD (77 nL/min). Results: The range for nNO in our cohort was 56.5-334.7 nL/min, with age, gender, and anomaly not having a significant effect. The overall mean, 217.7 nL/min, was significantly lower than that of normal children, 314.51 nL/min (p<0.01). Four subjects (15.4%) had nNO levels below the lower end of normal, with two (7.7%) having values fitting the cutoff for PCD. Conclusions: We report an association between ciliary dysfunction and isolated midline neuroanatomical defects, not in context of any known syndrome. This suggests that genes causing isolated CNS defects, may be implied in the function of cilia. Longitudinal studies are required to investigate whether children with abnormal measurements suffer from any respiratory sequelae.
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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 | 0.001 | 0.003 |
| 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 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 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".