Evidence map›Paper›PMID 38605286›Full record

ArticleBMC neurology2024

A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy.

Kei Kaburagi, Yuta Hagiwara, Keiji Tachikawa, Noriko Miyake, Hisanao Akiyama, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, Yoshihisa Yamano, Takahiro Shimizu and 1 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in BMC neurology, 2024. 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
0.4field-weighted citation impact, top 38% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  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

11 authors at 2 institutions in 1 country.

Kei KaburagiDepartment of Neurology, St. Marianna University School of Medicine, 2-16-1 Sugao, Miyamae-ku, Kawasaki, Kanagawa, 2168511, Japan.
Yuta HagiwaraDepartment of Neurology, St. Marianna University School of Medicine, 2-16-1 Sugao, Miyamae-ku, Kawasaki, Kanagawa, 2168511, Japan.
Keiji TachikawaDepartment of Neurology, St. Marianna University School of Medicine, 2-16-1 Sugao, Miyamae-ku, Kawasaki, Kanagawa, 2168511, Japan.
Noriko MiyakeDepartment of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.
Hisanao AkiyamaDepartment of Neurology, St. Marianna University School of Medicine, 2-16-1 Sugao, Miyamae-ku, Kawasaki, Kanagawa, 2168511, Japan.
Yosuke KawaiGenome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan.
Yosuke OmaeGenome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan.
Katsushi TokunagaGenome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan.
Yoshihisa YamanoDepartment of Neurology, St. Marianna University School of Medicine, 2-16-1 Sugao, Miyamae-ku, Kawasaki, Kanagawa, 2168511, Japan.
Takahiro ShimizuDepartment of Neurology, St. Marianna University School of Medicine, 2-16-1 Sugao, Miyamae-ku, Kawasaki, Kanagawa, 2168511, Japan. shimi-taka@marianna-u.ac.jp.
Satomi MitsuhashiDepartment of Neurology, St. Marianna University School of Medicine, 2-16-1 Sugao, Miyamae-ku, Kawasaki, Kanagawa, 2168511, Japan. satomi.mitsuhashi@marianna-u.ac.jp.
St. Marianna University School of Medicine · JPNational Center for Global Health and Medicine · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundIschemic stroke in young adults can be caused by a variety of etiologies including the monogenic disorders. Visceral heterotaxy is a condition caused by abnormal left-right determinations during embryonic development. We aimed to determine the cause of a young ischemic stroke patient with visceral heterotaxy. CASE PRESENTATION: We performed neurological, radiological, and genetic evaluations in a 17-year-old male patient presenting ischemic stroke and visceral heterotaxy to determine the underlying cause of this rare disease combination. Brain magnetic resonance imaging (MRI) showed evidence of embolic stroke, abdominal computed tomography (CT) showed visceral heterotaxy, and echocardiogram showed cardiac anomaly with right-to-left-shunt (RLS). Whole genome sequencing (WGS) revealed a heterozygous missense variant (NM_018055.5: c.1016 T > C, p.(Met339Val)) in the NODAL gene, which is essential to the determination of the left-right body axis.

conclusionsOur study highlights the importance of evaluating genetic etiology in young ischemic stroke and the need for stroke risk management in visceral heterotaxy patients with RLS. To the best of our knowledge, we report the first genetically-confirmed case of visceral heterotaxy with young embolic stroke reported to date.

Indexed as

Embolic StrokeHeterotaxy SyndromeAdolescentCardiovascular AbnormalitiesHumansMagnetic Resonance ImagingMaleStrokeCryptogenic strokeVisceral heterotaxyWhole-genome sequencing

Identifiers

PMID38605286
PMCPMC11007883
OpenAlexW4394725262

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.