Evidence map›Paper›PMID 11694544›Full record

ReviewJournal of medical genetics2001

Hirschsprung disease, associated syndromes, and genetics: a review.

J Amiel, S Lyonnet

3 registry-linked trialsOpen access · bronzeAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Journal of medical genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 3 registered trials, which are not on this map. Cited by 132 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
132citing papers in PubMed, 5 pooled it
15.0field-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.

NCT03617640 completednot on this mapstarted 2015, after this paper: background citation

The Enteric Nervous System as Modulator of Mucosal Immune Cells

TypeobservationalSponsorUniversity Children's Hospital BaselRan2015 to 2022Enrolled103ConditionsHirschsprung's Disease Associated Enterocolitis
NCT06874686 completednot on this mapstarted 2017, after this paper: background citation

Minimally Invasive Laparoscopic Surgery for Hirschsprung's Disease: A Retrospective Study on Patient Safety Profiles, Effectiveness, and Short-term Functional Outcomes

TypeobservationalSponsorNational Children's Hospital, VietnamRan2017 to 2025Enrolled1,050ConditionsHirschsprung DiseaseArmsMinimally invasive laparoscopic pull-through surgery
NCT06880666 nacompletednot on this mapstarted 2020, after this paper: background citation

Minimally Invasive Surgical Intervention for Hirschsprung Disease: A Prospective Study on Efficacy and Long-term Functional Outcomes for Neonatal Patients

TypeinterventionalSponsorNational Children's Hospital, VietnamRan2020 to 2025Enrolled23ConditionsHirschsprung DiseaseArmsMinimally invasive laparoscopic pull-through surgery
3 · Its place in the literature

Who cites it

132 citing papers in PubMed, 5 syntheses or guidelines pooled it, 477 citations in OpenAlex.

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72 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

2 authors at 1 institution in 1 country.

J AmielDépartement de Génétique, Unité INSERM U-393, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.
S Lyonnet
Inserm · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a neurocristopathy and is characterised by the absence of the enteric ganglia along a variable length of the intestine. In the last decades, the development of surgical approaches has dramatically decreased mortality and morbidity, which has allowed the emergence of familial cases. HSCR appeared to be a multifactorial malformation with low, sex dependent penetrance and variable expression according to the length of the aganglionic segment, suggesting the involvement of one or more gene(s) with low penetrance. So far, eight genes have been found to be involved in HSCR. This frequent congenital malformation now stands as a model for genetic disorders with complex patterns of inheritance.

Indexed as

Chromosome AberrationsDiagnosis, DifferentialHirschsprung DiseaseHumans

Identifiers

PMID11694544
PMCPMC1734759
OpenAlexW4248397395

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

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.