Evidence map›Paper›PMID 27614119›Full record

ArticleUrology2017

Urological Findings in Beckwith-Wiedemann Syndrome With Chromosomal Duplications of 11p15.5: Evaluation and Management.

Carmen C Tong, Kelly A Duffy, David I Chu, Dana A Weiss, Arun K Srinivasan, Douglas A Canning, Jennifer M Kalish

Open access · greenAbstract readCase Reports
In one paragraph

Article in Urology, 2017. 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
0.9field-weighted citation impact, top 18% 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, 5 citations in OpenAlex.

  1. Article
  2. Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management.American journal of medical genetics. Part C, Seminars in medical genetics · 2019
    Article
  3. Beckwith-Wiedemann syndrome in diverse populations.American journal of medical genetics. Part A · 2019
    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

7 authors at 2 institutions in 1 country.

Carmen C TongDepartment of Urology, Einstein Healthcare Network, Philadelphia, PA.
Kelly A DuffyDivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA.
David I ChuDivision of Urology, The Children's Hospital of Philadelphia, Philadelphia, PA.
Dana A WeissDivision of Urology, The Children's Hospital of Philadelphia, Philadelphia, PA.
Arun K SrinivasanDivision of Urology, The Children's Hospital of Philadelphia, Philadelphia, PA.
Douglas A CanningDivision of Urology, The Children's Hospital of Philadelphia, Philadelphia, PA.
Jennifer M KalishDivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. Electronic address: kalishj@email.chop.edu.
Children's Hospital of Philadelphia · USEinstein Healthcare Network · US

Funding

CLINICAL RESEARCH TRAINING IN KIDNEY DISEASET32DK007785 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI FELDMAN, HAROLD I · 2000 to 2019
$3.9M
The Mechanism of Tumor Formation in Beckwith-Wiedemann SyndromeK08CA193915 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI KALISH, JENNIFER MELISSA · 2015 to 2019
$703k
NCI NIH HHS K08 CA193915NIDDK NIH HHS T32 DK007785
6 · The paper itself

Abstract

Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder with various congenital anomalies. Although the most classic constellation includes macrosomia, macroglossia, and omphalocele, nephrourological findings are commonly associated with BWS. Clinical presentation is highly variable because of its complex molecular heterogeneity, which involves changes in DNA methylation and disruption of growth regulatory genes. We report 3 pediatric patients, ages 13 months to 3 years old, who presented with clinical features consistent with BWS. A variety of nephrourological abnormalities were also noted, including posterior urethral valves, hydroureteronephrosis, and undescended testes. Genetic testing for all 3 patients revealed duplication of the region chromosome 11p15.5.

Indexed as

Chromosome DuplicationChromosomes, Human, Pair 11Beckwith-Wiedemann SyndromeChild, PreschoolHumansInfantMale

Identifiers

PMID27614119
PMCPMC5274561
OpenAlexW2507442428

What OpenQuestion holds

Textmetadata
LicenceTDM
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.