Evidence map›Paper›PMID 40386336›Full record

ArticleJPGN reports2025

Chronic atrial and intestinal dysrhythmia: A rare genetic disorder of intestinal pseudo-obstruction.

Kanya Ahuja, Shivany Pathania, Nicole Baron, Julie Khlevner, Martin Bialer, Jennifer Mait-Kaufman

Abstract read
In one paragraph

Article in JPGN reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Kanya AhujaPediatric Gastroenterology, Liver Disease and Nutrition Cohen Children's Medical Center New York New York USA.ORCID https://orcid.org/0009-0007-1776-011X
Shivany PathaniaGeneral Pediatrics Cohen Children's Medical Center New York New York USA.
Nicole BaronDivision of Pediatric Gastroenterology, Hepatology and Nutrition Columbia University Irving Medical Center New York New York USA.
Julie KhlevnerDivision of Pediatric Gastroenterology, Hepatology and Nutrition Columbia University Irving Medical Center New York New York USA.
Martin BialerDivision of Medical Genetics Cohen Children's Medical Center New York New York USA.
Jennifer Mait-KaufmanPediatric Gastroenterology, Liver Disease and Nutrition Cohen Children's Medical Center New York New York USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pediatric intestinal pseudo-obstruction (PIPO) is a rare and severe disorder of gastrointestinal (GI) motility; patients with PIPO display signs and symptoms of intestinal obstruction in the absence of occluding lesions. Chronic atrial and intestinal dysrhythmia (CAID) syndrome is an exceedingly rare autosomal recessive disorder caused by mutations in the SGO1 gene; SGO1 mutations disrupt the cohesin complex, a protein involved in chromosome organization during cell division and hence, DNA stability. CAID leads to both GI and cardiac dysfunction. This case report highlights an exceptional instance of early-onset pediatric CAID marked by recurrent pseudo-obstruction and, notably, developmental delay, which has not been previously described. The case emphasizes the importance of genetic evaluation in pediatric patients with unexplained pseudo-obstruction, and the importance of multidisciplinary management.

Indexed as

cohesinopathyintestinal dysmotilityintestinal obstructionSGO1 gene

Identifiers

PMID40386336
PMCPMC12078061

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.