Evidence map›Paper›PMID 36543209›Full record

ArticleInternal medicine (Tokyo, Japan)2023

Transthyretin Variant Amyloidosis with a TTR A97D (p.A117D) Mutation Manifesting Remarkable Asymmetric Neuropathy.

Kazuna Ikeda, Daisuke Yamamoto, Keiko Usui, Hiroki Takeuchi, Nobuyuki Oka, Nagaaki Katoh, Masahide Yazaki, Fuyuki Kametani, Ichizo Nishino, Shin Hisahara

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Internal medicine (Tokyo, Japan), 2023. 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
0.1field-weighted citation impact, top 55% 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, 1 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

10 authors at 5 institutions in 1 country.

Kazuna IkedaDepartment of Neurology, Sapporo Medical University School of Medicine, Japan.
Daisuke YamamotoDepartment of Neurology, Sapporo Medical University School of Medicine, Japan.
Keiko UsuiDepartment of Systems Neuroscience, Sapporo Medical University School of Medicine, Japan.
Hiroki TakeuchiDepartment of Neurology, National Hospital Organization Minami Kyoto Hospital, Japan.
Nobuyuki OkaKyoto Konoe Rehabilitation Hospital, Japan.
Nagaaki KatohDepartment of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan.
Masahide YazakiInstitute for Biomedical Sciences, Shinshu University, Japan.
Fuyuki KametaniTokyo Metropolitan Institute of Medical Science, Japan.
Ichizo NishinoDepartment of Neuromuscular Research, National Institute of Neuroscience, and Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, Japan.
Shin HisaharaDepartment of Neurology, Sapporo Medical University School of Medicine, Japan.
Sapporo Medical University · JPShinshu University · JPKyoto Medical Center · JPNational Center of Neurology and Psychiatry · JPTokyo Metropolitan Institute of Medical Science · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We herein report a 68-year-old Japanese man with sporadic variant transthyretin (ATTRv) amyloidosis harboring the novel variant A97D (p.A117D) in TTR. He had slow development of asymmetric neuropathy, unintentional weight loss, mild autonomic failure and mild cardiomyopathy. TTR amyloid deposition on the gastric duodenal mucosa was detected. In silico analyses predicted that TTR A97D (p.A117D) altered the structure and function of the TTR protein. ATTRv amyloidosis is often difficult to diagnose in non-endemic regions due to its diverse phenotypes, such as atypical peripheral nerve involvement and a rare family history.

Indexed as

Amyloid Neuropathies, FamilialCardiomyopathiesHumansMaleMutationPrealbuminPrealbuminasymmetric neuropathyATTR-FAPATTRv amyloidosistransthyretin (TTR)

Identifiers

PMID36543209
PMCPMC10465283
OpenAlexW4312094538

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.