Evidence map›Paper›PMID 33768880›Full record

ArticleClinical case reports2021

Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel

Timothy D Gauntner, Manasa Karumuri, Miguel A Guzman, Sara E Starnes, Sherri Besmer, Hailey Pinz, Stephen R Braddock, Teresa L Andreone

Open access · goldAbstract readCase Reports
In one paragraph

Article in Clinical case reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.3field-weighted citation impact, top 22% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. X-Linked Hydrocephalus with NewMolecular syndromology · 2023
    Article
  2. Review
  3. Article
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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

8 authors at 2 institutions in 1 country.

Timothy D GauntnerDepartment of Medicine University of Minnesota Minneapolis MN USA.ORCID https://orcid.org/0000-0002-4745-2130
Manasa KarumuriDepartment of Pediatrics Saint Louis University School of Medicine St. Louis MO USA.
Miguel A GuzmanDivision of Pediatric Pathology Department of Pathology Saint Louis University School of Medicine St. Louis MO USA.
Sara E StarnesDivision of Pediatric Pathology Department of Pathology Saint Louis University School of Medicine St. Louis MO USA.
Sherri BesmerDivision of Pediatric Pathology Department of Pathology Saint Louis University School of Medicine St. Louis MO USA.
Hailey PinzDepartment of Pediatrics Saint Louis University School of Medicine St. Louis MO USA.
Stephen R BraddockDepartment of Pediatrics Saint Louis University School of Medicine St. Louis MO USA.
Teresa L AndreoneDepartment of Pediatrics Saint Louis University School of Medicine St. Louis MO USA.ORCID https://orcid.org/0000-0001-7995-2191
Saint Louis University · USUniversity of Minnesota · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

L1syndrome is an X-linked disorder manifesting with congenital hydrocephalus, adducted thumbs and spasticity. There are rare cases of L1 syndrome and coincident Hirschsprung disease, with mutations in the

Indexed as

geneticsneurosurgerypaediatrics and adolescent medicine

Identifiers

PMID33768880
PMCPMC7981724
OpenAlexW3129089264

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.