Evidence map›Paper›PMID 31249631›Full record

ArticleGut pathogens2019

Whole exome sequencing of patients who resolved Crohn's disease and complex regional pain syndrome following treatment for paratuberculosis.

J Todd Kuenstner, Maher Kali, Christine Welch

Open access · goldAbstract read
In one paragraph

Article in Gut pathogens, 2019. 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
0.2field-weighted citation impact, top 37% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  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

3 authors at 3 institutions in 1 country.

J Todd Kuenstner1Department of Pathology, Temple University Hospital, 3401 N. Broad St., Philadelphia, PA 19140 USA.
Maher Kali2CAMC Clinical Trials Center, 3100 MacCorkle Avenue S.E., Suite 806, Charleston, WV 25304 USA.
Christine WelchOutcomes Research, 3100 MacCorkle Avenue S.E., Suite 806, Charleston, WV 25304 USA.
Charleston Area Medical Center · USOutcomes Research Consortium · USTemple University Hospital · US

Funding

West Virginia IDEA-CTRU54GM104942 · NIGMS · WEST VIRGINIA UNIVERSITY · PI Laura F. Gibson · 2012 to 2026
$81.0M
WV INBRE: The Inhibitor of Growth Family Member 4 (ING4) inhibits L-Type Amino Acid Transporter 1 (LAT1) expression to suppress Breast CancerP20GM103434 · NIGMS · MARSHALL UNIVERSITY · PI Travis Salisbury · 2012 to 2026
$61.1M
Regulation of Tight Junction Molecular Composition by Na/K-ATPaseP20GM121299 · NIGMS · MARSHALL UNIVERSITY · PI HAYNES, JENNIFER · 2018 to 2022
$10.6M
NIGMS NIH HHS P20 GM103434NIGMS NIH HHS P20 GM121299NIGMS NIH HHS U54 GM104942
6 · The paper itself

Abstract

backgroundA whole exome sequencing study was performed on an extended family including a patient with Crohn's disease (CD) and a patient with complex regional pain syndrome (CRPS). The patient with CD and the patient with CRPS have experienced resolution of their disease following treatment for paratuberculosis. The study was performed in order to determine if there is an unusual mutation in this extended family that would explain the susceptibility to mycobacterial infection among many of the members.

resultsWe identified sets of rare single nucleotide polymorphisms (SNPs) that were shared among affected family members, including variants in two genes, IL15RA and CASP10, which have established roles in the immune response. In addition, the CD and CRPS patients were found to have heterozygous mutations in MBL2 and DDX58, mutations that have been associated with susceptibility to tuberculosis.

conclusionsThe IL15RA and CASP10 variants may contribute to the disease symptoms exhibited in this family. The finding of SNPs associated with immune function supports a complementary role of infection and genetics in these diseases.

Indexed as

Complex regional pain syndromeCrohn’s diseaseGenetic susceptibilityLymphangiomatosisMycobacterium avium ssp. paratuberculosisSingle nucleotide polymorphismType 1 diabetes mellitus

Identifiers

PMID31249631
PMCPMC6587279
OpenAlexW2951054041

What OpenQuestion holds

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LicenceCC BY
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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.