Evidence map›Paper›PMID 29344738›Full record

ArticleJournal of anesthesia2018

Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia.

Takashi Kondo, Toshimichi Yasuda, Keiko Mukaida, Sachiko Otsuki, Rieko Kanzaki, Hirotsugu Miyoshi, Hiroshi Hamada, Ichizo Nishino, Masashi Kawamoto

Abstract read
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In one paragraph

Article in Journal of anesthesia, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.6field-weighted citation impact, top 33% 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

5 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. Effects of Remimazolam and Propofol on CaBioMed research international · 2021
    Article
  4. Article
  5. 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

9 authors at 4 institutions in 1 country.

Takashi KondoDepartment of Anesthesiology and Critical Care, Hiroshima University Hospital, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8551, Japan. kondo320@hiroshima-u.ac.jp.ORCID 0000-0001-9182-0394
Toshimichi YasudaDepartment of Anesthesiology and Critical Care, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima, Japan.
Keiko MukaidaDepartment of Anesthesiology, Hiroshima Prefectural Rehabilitation Center, Higashi, Hiroshima, Japan.
Sachiko OtsukiDepartment of Anesthesiology and Critical Care, Hiroshima University Hospital, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8551, Japan.
Rieko KanzakiDepartment of Anesthesiology and Critical Care, Hiroshima University Hospital, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8551, Japan.
Hirotsugu MiyoshiDepartment of Anesthesiology and Critical Care, Hiroshima University Hospital, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8551, Japan.
Hiroshi HamadaDepartment of Anesthesiology and Critical Care, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima, Japan.
Ichizo NishinoDepartment of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan.
Masashi KawamotoDepartment of Anesthesiology and Critical Care, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima, Japan.
Hiroshima University Hospital · JPHiroshima University · JPHiroshima Prefectural Rehabilitation Center · JPNational Center of Neurology and Psychiatry · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeThe aim of this study was to analyze the genetic and functional role of a novel RYR1 variant c.251 C > T (p.Thr84Met) identified in a patient with muscle weakness demonstrating MH susceptibility.

methodsDNA testing of family members was conducted for assessment of pathogenicity of the genetic variant. For functional analysis, Ca

resultsDose-response curves for caffeine and 4CmC were shifted to the left in both myotubes and HEK-293 cells compared to controls. The 50% effective concentration values for caffeine and 4CmC were significantly lower in both myotubes and HEK-293 cells compared to controls (P < 0.001 for all comparisons).

conclusionsOur results of functional testing indicated RYR1 hypersensitivity to caffeine and 4CmC. We conclude that the genetic variant was associated with MH susceptibility.

Indexed as

AnimalsCaffeineCalciumChildCresolsGenetic Predisposition to DiseaseHEK293 CellsHumansMaleMalignant HyperthermiaMuscle Fibers, SkeletalMuscle, SkeletalMutationRabbitsRyanodine Receptor Calcium Release ChannelCaffeineCalciumchlorocresolCresolsRyanodine Receptor Calcium Release ChannelRYR1 protein, humanCalcium releaseMalignant hyperthermiaMutationRyanodine receptor

Identifiers

PMID29344738
OpenAlexW2784877382

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.