Evidence map›Paper›PMID 37547187›Full record

ArticleNeurology. Genetics2023

Genomic Diagnoses for Ectopic Intracerebral Calcifications.

Changrui Xiao, Thomas Cassini, Daniel Benavides, Anusha Ebrahim, David Adams, Camilo Toro

Erratum issuedAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. 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. Erratum: Missing Full Disclosures.Neurology. Genetics · 2024
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors.

Changrui XiaoFrom the National Human Genome Research Institute (C.X., T.C., D.B., A.E., D.A., C.T.), Bethesda, MD; and Department of Neurology (C.X.), University of California - Irvine.
Thomas CassiniFrom the National Human Genome Research Institute (C.X., T.C., D.B., A.E., D.A., C.T.), Bethesda, MD; and Department of Neurology (C.X.), University of California - Irvine.
Daniel BenavidesFrom the National Human Genome Research Institute (C.X., T.C., D.B., A.E., D.A., C.T.), Bethesda, MD; and Department of Neurology (C.X.), University of California - Irvine.
Anusha EbrahimFrom the National Human Genome Research Institute (C.X., T.C., D.B., A.E., D.A., C.T.), Bethesda, MD; and Department of Neurology (C.X.), University of California - Irvine.
David AdamsFrom the National Human Genome Research Institute (C.X., T.C., D.B., A.E., D.A., C.T.), Bethesda, MD; and Department of Neurology (C.X.), University of California - Irvine.
Camilo ToroFrom the National Human Genome Research Institute (C.X., T.C., D.B., A.E., D.A., C.T.), Bethesda, MD; and Department of Neurology (C.X.), University of California - Irvine.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: Ectopic intracerebral calcifications (EICs) in the basal ganglia, thalamus, cerebellum, or white matter are seen in a variety of disease states or may be found incidentally on brain imaging. The clinical significance and proportion of cases attributable to an underlying genetic cause is unknown. Methods: This retrospective cohort study details the clinical, imaging, and genomic findings of 44 patients with EICs who had no established diagnosis despite extensive medical workup. Results: In total, 15 of 44 patients received a diagnosis through genomic testing explaining their calcifications, and 2 more received a diagnosis that has not been previously associated with EICs. Six of the 15 were found to have one of the 4 genes ( Discussion: These findings support the use of genomic testing for symptomatic patients with EICs.

Identifiers

PMID37547187
PMCPMC10399077

What OpenQuestion holds

Textmetadata
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.