Evidence map›Paper›PMID 42564772›Full record

ArticleIntestinal Failure (New York, N.Y.)

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) due to a de novo ACTG2 mutation: A neonatal case report.

Tommaso Amato, Michele Maria Cantagalli, Marco Di Mitri, Riccardo Coletta, Antonino Morabito

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Intestinal Failure (New York, N.Y.). The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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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

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

5 authors.

Tommaso AmatoDepartment of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.
Michele Maria CantagalliDepartment of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.
Marco Di MitriDepartment of Paediatric Surgery, AOU Meyer Children's Hospital IRCCS, Florence, Italy.
Riccardo ColettaDepartment of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.
Antonino MorabitoDepartment of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital visceral myopathy characterized by severe gastrointestinal dysmotility and bladder dysfunction, most commonly associated with Case report: We report a preterm neonate with prenatally detected megacystis and a de novo heterozygous Conclusion: MMIHS should be suspected in cases of fetal megacystis. Early genetic diagnosis and multidisciplinary management, including intestinal failure rehabilitation and urological care, are essential to improve outcomes.

Indexed as

ACTG2 mutationFetal megacystisIntestinal failureMegacystis–microcolon–intestinal hypoperistalsis syndromeMMIHSVisceral myopathy

Identifiers

PMID42564772
PMCPMC13446039

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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.