Evidence map›Paper›PMID 38548746›Full record

ArticleHuman genome variation2024

Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants.

Shintaro Nakamura, Kyosuke Ibi, Hiroyuki Tanaka, Hirokazu Takami, Keita Okada, Nao Takasugi, Motohiro Kato, Naoto Takahashi, Takanobu Inoue

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 95% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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

9 authors at 3 institutions in 1 country.

Shintaro Nakamura *Department of Pediatrics, The University of Tokyo, Tokyo, Japan.
Kyosuke Ibi *Department of Pediatrics, The University of Tokyo, Tokyo, Japan.
Hiroyuki TanakaDepartment of Pediatrics, The University of Tokyo, Tokyo, Japan.ORCID http://orcid.org/0000-0001-5135-4093
Hirokazu TakamiDepartment of Neurosurgery, The University of Tokyo, Tokyo, Japan.
Keita OkadaDepartment of Orthopaedic Surgery, The University of Tokyo, Tokyo, Japan.
Nao TakasugiDepartment of Pediatrics, The University of Tokyo, Tokyo, Japan.
Motohiro KatoDepartment of Pediatrics, The University of Tokyo, Tokyo, Japan.
Naoto TakahashiDepartment of Pediatrics, The University of Tokyo, Tokyo, Japan.
Takanobu InoueDepartment of Pediatrics, The University of Tokyo, Tokyo, Japan. takanobu.inoue@gmail.com.
The University of Tokyo · JPInoue Hospital · JPUniversity of Tokyo Hospital · JP

Funding

Japan Agency for Medical Research and Development (AMED) JP22ek0109493
6 · The paper itself

Abstract

Osteogenesis imperfecta is characterized by frequent fractures, bone deformities, and other systemic symptoms. Severe osteogenesis imperfecta may progress to hydrocephalus; however, treatment strategies for this complication remain unclear. Here, we describe severe osteogenesis imperfecta in an infant with symptomatic hydrocephalus treated with ventriculosubgaleal shunt placement. Targeted next-generation sequencing revealed novel compound heterozygous CRTAP variants, i.e., NM_006371.5, c.241 G > T, p.(Glu81*) and NM_006371.5, c.923-2_932del. We suggest that ventriculosubgaleal shunt placement is an effective and safe treatment for hydrocephalus in patients with severe osteogenesis imperfecta.

Identifiers

PMID38548746
PMCPMC10978965
OpenAlexW4393277277

What OpenQuestion holds

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LicenceCC BY
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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.