Evidence map›Paper›PMID 31620490›Full record

ArticleACG case reports journal2019

Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis.

Alvin P Chan, Milene Mulatinho, Paul Iskander, Hane Lee, Julian A Martinez-Agosto, Joanna Yeh

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in ACG case reports journal, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 35% 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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
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

6 authors at 1 institution in 1 country.

Alvin P ChanDivision of Pediatric Gastroenterology, Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA.
Milene MulatinhoDepartment of Pathology and Laboratory Medicine, University of California, Los Angeles, Los Angeles, CA.
Paul IskanderDepartment of Radiology, University of California, Los Angeles, Los Angeles, CA.
Hane LeeDepartment of Pathology and Laboratory Medicine, University of California, Los Angeles, Los Angeles, CA.
Julian A Martinez-AgostoDivision of Medical Genetics, Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA.
Joanna YehDivision of Pediatric Gastroenterology, Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA.
University of California, Los Angeles · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pediatric diverticular disease is extremely rare, with most cases associated with connective tissue disorders. We report an adolescent boy with syndromic features who presented with acute complicated sigmoid diverticulitis. Clinical exome sequencing analysis detected a 6.5-Mb region of homozygosity on chromosome 14, consistent with partial maternal uniparental disomy. Analysis of this region did not identify rare homozygous variants but included several imprinted genes that were candidates for the observed phenotypes. The pediatric clinical presentation of diverticulosis in this patient has not been previously described in maternal uniparental disomy of chromosome 14 and adds to the phenotypic spectrum of the syndrome.

Identifiers

PMID31620490
PMCPMC6658016
OpenAlexW2925917505

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.