A170 A NEW PEDIATRIC INTESTINAL PSEUDO-OBSTRUCTION SYNDROME BY SGOL1 MUTATION: A LATE-ONSET BUT SEVERE DIGESTIVE PHENOTYPE.
Bibliographic record
Abstract
Pediatric intestinal pseudo-obstruction (PIPO) is a rare and severe gut motility disorder associated with a high morbidity and a high mortality rate. The majority of PIPO are of primary origin. Prenatal symptoms can be detected in about 20 % of children and the symptoms start by one year of age in 80%. Up to 60 - 80% of patients require parenteral nutrition. In 2014, Chetaille et al. described a new cohesinopathy affecting gut and heart rhythm by a SGOL1 mutation (Nat Gen 2014;46(11):1245–9). We report here 4 cases of PIPO with SGOL1 mutation with an extensive description of their digestive phenotype and nutritional long term follow-up. All data were retrospectively collected from patients’ files. The ethical committees at all participating institutions approved the study, and all participants gave informed consent. The median (range) age at the end of follow-up was 18 years (14 - 19). All the patients presented initially with the classical PIPO symptoms with vomiting, abdominal distension and abdominal pain at the age of 4.5 years (2.7 - 8). Contrast studies showed massively distended small bowel and colon in the 4 patients. Antroduodenal manometry was performed in 3 patients and was abnormal in all with a neuropathic pattern and lack of response to IV erythromycin. Parenteral nutrition (PN) was started at 13 years (6.5 - 14) due to failure to thrive and intestinal failure. At initiation of PN, the median PN energy intake represented 85.5 % (53 - 100) of the resting energy expenditure and the median weight loss was of 15 percentiles (9 - 47) and of 24 percentiles (16 - 77) for height. All patients but one were on PN at the end of the follow-up. Two patients had an ileostomy at 6 years and a gastrostomy at 5 and 11 years respectively. Three patients required a pacemaker for sinusal dysfunction at the time of PIPO diagnosis. Cohesinopathy with SGOL1 mutation represent a late-onset but severe PIPO etiology associated with severe bradycardia. None
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| 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".