A307 NEUROGASTROENTEROLOGY & MOTILITY CAID (CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA) SYNDROME: A SEVERE LATE-ONSET PEDIATRIC INTESTINAL PSEUDO-OBSTRUCTION
Bibliographic record
Abstract
Abstract Background Pediatric intestinal pseudo-obstruction (PIPO) is a rare, heterogeneous and severe gut motility disorder. It is associated with a high morbidity and mortality rate. The etiology of PIPO can be either primary (sporadic or familial), secondary or idiopathic. In primary forms, 50 to 75% of patients will present symptoms in the first month of life and 80% by the end of the first year of life. In 2014, Chetaille et al. described the CAID syndrome related to a recessive SGOL1 mutation as a new form of PIPO associated with cardiac dysrhythmia. Aims Our aim is to describe the clinical presentation and the specific digestive and nutritional features of pediatric patients with SGOL1 mutation. Methods Monocentric, retrospective and descriptive study. We enrolled children and adolescents aged less than 18 years. All data were collected from patients’ files. Results 8 patients were included (5 girls), two of them were first-degree related. They all had a typical clinical presentation of PIPO (excessive abdominal distension, abdominal pain and vomiting) but with a later onset than usually seen in primary PIPO (median (range) age: 6.3 years [2-15.6]). The median age (range) at diagnosis was 7.8 years [4-15.7]. In most patients contrast studies showed massively distended small bowel and colon. Antroduodenal manometry was performed in 6 patients and was abnormal with a neuropathic pattern. Others were diagnosed using the ESPGHAN criteria (2018 Jun;66(6):991-1019). All patients needed parenteral nutrition at a median (range) age of 11.8 years [6.5-15.9] due to failure to thrive, intestinal failure and electrolytic disorders. Seven patients needed an ileostomy. One out of 8 patients was off PN at 18 years. Three patients had sinus dysfunction: one at the time of PIPO diagnosis and two sometimes after. All of them required a pacemaker. One patient died in her twenties and it wasn’t related to PIPO or its possible complications. Conclusions Recessive SGOL1 mutation, a new cohesinopathy affecting the gut and heart rhythm, represents a late-onset but severe form of PIPO. It is usually associated with sinus dysfunction and cardiac dysrhythmia. However, digestive symptoms appear first. Long term outcome is still to describe. Funding Agencies None
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 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".