Evidence map›Paper›PMID 37828049›Full record

ReviewNature reviews. Disease primers2023

Hirschsprung disease.

Louise Montalva, Lily S Cheng, Raj Kapur, Jacob C Langer, Dominique Berrebi, Kristiina Kyrklund, Mikko Pakarinen, Ivo de Blaauw, Arnaud Bonnard, Ankush Gosain

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Disease primers, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 100 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
100citing papers in PubMed, 6 pooled it
38.4field-weighted citation impact, top 1% of its field
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

100 citing papers in PubMed, 6 syntheses or guidelines pooled it, 121 citations in OpenAlex.

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40 more citing papers are in PubMed but not listed here.

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

10 authors at 8 institutions in 5 countries.

Louise MontalvaDepartment of Paediatric Surgery, Robert-Debré Children's University Hospital, Paris, France. louise.montalva@aphp.fr.ORCID 0000-0001-8357-9609
Lily S ChengDivision of Paediatric Surgery, Texas Children's Hospital, Houston, TX, USA.
Raj KapurDepartment of Pathology, Seattle Children's Hospital, Seattle, WA, USA.ORCID 0000-0002-5718-407X
Jacob C LangerDivision of Paediatric Surgery, The Hospital for Sick Children, Toronto, Ontario, Canada.
Dominique BerrebiDepartment of Pathology, Robert-Debré and Necker Children's University Hospital, Paris, France.
Kristiina KyrklundDepartment of Paediatric Surgery, Helsinki University Central Hospital, Helsinki, Finland.
Mikko PakarinenDepartment of Paediatric Surgery, Helsinki University Central Hospital, Helsinki, Finland.ORCID 0000-0001-6016-6334
Ivo de BlaauwDepartment of Surgery, Division of Paediatric Surgery, Radboudumc-Amalia Children's Hospital, Nijmegen, Netherlands.
Arnaud BonnardDepartment of Paediatric Surgery, Robert-Debré Children's University Hospital, Paris, France.
Ankush GosainDepartment of Paediatric Surgery, Children's Hospital Colorado, Aurora, CO, USA. ankush.gosain@childrenscolorado.org.ORCID 0000-0002-0428-1503
Helsinki University Hospital · FIInserm · FRChildren's Hospital Colorado · USHôpital Robert-Debré · FRHospital for Sick Children · CARadboud University Nijmegen · NLSeattle Children's Hospital · USTexas Children's Hospital · US

Funding

Tissue Analysis & Molecular Imaging CoreP30DK056338 · NIDDK · BAYLOR COLLEGE OF MEDICINE · PI Hashem B El-Serag · 2001 to 2026
$28.3M
Dysbiosis in Hirschsprung Associated Enterocolitis PathogenesisR01DK125047 · NIDDK · UNIVERSITY OF VIRGINIA · PI GOSAIN, ANKUSH · 2020 to 2024
$2.1M
Investigating the role of biomechanical forces on the enteric nervous system in Hirschsprung diseaseK08DK133673 · NIDDK · UNIVERSITY OF VIRGINIA · PI Lily S Cheng · 2022 to 2026
$830k
NIDDK NIH HHS K08 DK133673NIDDK NIH HHS P30 DK056338NIDDK NIH HHS R01 DK125047
6 · The paper itself

Abstract

Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in 5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the intestine. Most patients present during the neonatal period with the first meconium passage delayed beyond 24 h, abdominal distension and vomiting. Syndromes associated with HSCR include trisomy 21, Mowat-Wilson syndrome, congenital central hypoventilation syndrome, Shah-Waardenburg syndrome and cartilage-hair hypoplasia. Multiple putative genes are involved in familial and isolated HSCR, of which the most common are the RET proto-oncogene and EDNRB. Diagnosis consists of visualization of a transition zone on contrast enema and confirmation via rectal biopsy. HSCR is typically managed by surgical removal of the aganglionic bowel and reconstruction of the intestinal tract by connecting the normally innervated bowel down to the anus while preserving normal sphincter function. Several procedures, namely Swenson, Soave and Duhamel procedures, can be undertaken and may include a laparoscopically assisted approach. Short-term and long-term comorbidities include persistent obstructive symptoms, enterocolitis and soiling. Continued research and innovation to better understand disease mechanisms holds promise for developing novel techniques for diagnosis and therapy, and improving outcomes in patients.

Indexed as

Down SyndromeHirschsprung DiseaseIntellectual DisabilityWaardenburg SyndromeAnal CanalHumansInfant, Newborn

Identifiers

PMID37828049
OpenAlexW4387576573

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.