Evidence map›Paper›PMID 33057775›Full record

ArticlePediatric radiology2021

Fetal brain small vessel disease 1 caused by a novel mutation in the COL4A1 gene.

Elizabeth C England, Patricia Cornejo, Derek E Neilson, Rashmi P Rao, Luis F Goncalves

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Pediatric radiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

5 authors.

Elizabeth C EnglandCreighton University, Phoenix, AZ, USA.
Patricia CornejoDepartment of Radiology, Phoenix Children's Hospital, 1919 E. Thomas Rd., Phoenix, AZ, 85016, USA.
Derek E NeilsonDepartment of Radiology, Phoenix Children's Hospital, 1919 E. Thomas Rd., Phoenix, AZ, 85016, USA.
Rashmi P RaoDepartment of Radiology, Phoenix Children's Hospital, 1919 E. Thomas Rd., Phoenix, AZ, 85016, USA.
Luis F GoncalvesDepartment of Radiology, Phoenix Children's Hospital, 1919 E. Thomas Rd., Phoenix, AZ, 85016, USA. lgoncalves@phoenixchildrens.com.ORCID 0000-0001-7741-0321

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A singleton fetus was referred to fetal magnetic resonance imaging (MRI) at 25 weeks due to mild ventriculomegaly and an abnormal fetal echocardiogram showing cardiomegaly, right ventricular hypertrophy and tricuspid insufficiency. Patchy areas of ischemic infarction, extensive subacute and chronic hemorrhage not respecting vascular territories, encephaloclastic cysts and closed lip schizencephaly were identified. Cataract was detected postnatally. The anomalies were caused by a pathogenic mutation (c.353 G>A; p.G118D) in the COL4A1 gene. The phenotype seen in this case, i.e. small vessel cerebral disease with or without ocular anomalies caused by COL4A1 mutations, is likely an underrecognized cause of perinatal stroke. The pattern of abnormalities reported herein should prompt strong consideration for diagnosis and molecular testing.

Indexed as

Collagen Type IVStrokeBrainFemaleHumansMagnetic Resonance ImagingMutationPregnancyCOL4A1 protein, humanCollagen Type IVCOL4A1Fetal brain small vessel disease 1Fetal strokeFetusHemorrhageInfarctMagnetic resonance imagingType 4 collagen

Identifiers

PMID33057775

What OpenQuestion holds

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Registered trials

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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.