Evidence map›Paper›PMID 39100516›Full record

ArticleJournal of cardiology cases2024

Hereditary transthyretin amyloidosis with hydrocephalus at 27 years old: A case report.

Hiroyuki Kamimoto, Daisuke Tomioka, Kai Hanato, Shunsuke Takagi, Yuki Uemura, Kenichi Dochi, Hiroshi Sakai, Yoshiki Ueno

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of cardiology cases, 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
–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. Review
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

8 authors.

Hiroyuki KamimotoDepartment of Cardiology, Shiga Medical University, Shiga, Japan.
Daisuke TomiokaDepartment of Cardiology, Nagahama Red Cross Hospital, Shiga, Japan.
Kai HanatoDepartment of Cardiology, Shiga Medical University, Shiga, Japan.
Shunsuke TakagiDepartment of Cardiology, Shiga Medical University, Shiga, Japan.
Yuki UemuraDepartment of Cardiology, Shiga Medical University, Shiga, Japan.
Kenichi DochiDepartment of Cardiology, Shiga Medical University, Shiga, Japan.
Hiroshi SakaiDepartment of Cardiology, Nagahama Red Cross Hospital, Shiga, Japan.
Yoshiki UenoDepartment of Cardiology, Shiga Medical University, Shiga, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary transthyretin amyloidosis is autosomal dominant and results from mutations in the transthyretin gene. The Val30Met variant is the most common genetic mutation, although mutations vary within populations. More than 150 mutations in transthyretin have been reported; however, the Leu111Glu (p. Leu131Glu) mutation has been reported to date. We report the case of a 32-year-old Japanese male with a history of cerebral hemorrhage and hydrocephalus at age 27 years. The patient was referred to our department after his sibling had been diagnosed with hereditary transthyretin amyloidosis. Twelve-lead electrocardiography exhibited poor R progression, and transthoracic echocardiography showed normal findings. Learning objective: Hereditary transthyretin amyloidosis with the Leu111Gln variant has not been previously reported in Japan. While cardiac involvement progresses without overt abnormal findings on electrocardiogram and echocardiogram,

Indexed as

ATTRvHereditary amyloidosisHydrocephalusLeu111Glu variantTransthyretin

Identifiers

PMID39100516
PMCPMC11295010

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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.