Evidence map›Paper›PMID 41153347›Full record

ArticleGenes2025

Genetic Characteristics of Brazilian Patients with MH History.

Helga C A Silva, Daniela C Mendonça, Brandow W Souza, Joilson M Santos, Lucas S Souza, Antonio F R Junior, Felipe T G R Vasconcelos, Pamela V Andrade, Acary S B Oliveira, Mariz Vainzof

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. 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. 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

10 authors.

Helga C A SilvaBrazilian Malignant Hyperthermia Unit, Department of Anesthesiology, Pain and Intensive Care, Federal University of São Paulo, São Paulo 04039-032, SP, Brazil.ORCID 0000-0002-9372-7019
Daniela C MendonçaBrazilian Malignant Hyperthermia Unit, Department of Anesthesiology, Pain and Intensive Care, Federal University of São Paulo, São Paulo 04039-032, SP, Brazil.
Brandow W SouzaHuman Genome and Stem Cells Research Center, Institute of Biosciences, University of São Paulo, São Paulo 05508-090, SP, Brazil.ORCID 0000-0002-7066-262X
Joilson M SantosBrazilian Malignant Hyperthermia Unit, Department of Anesthesiology, Pain and Intensive Care, Federal University of São Paulo, São Paulo 04039-032, SP, Brazil.
Lucas S SouzaHuman Genome and Stem Cells Research Center, Institute of Biosciences, University of São Paulo, São Paulo 05508-090, SP, Brazil.
Antonio F R JuniorHuman Genome and Stem Cells Research Center, Institute of Biosciences, University of São Paulo, São Paulo 05508-090, SP, Brazil.
Felipe T G R VasconcelosHuman Genome and Stem Cells Research Center, Institute of Biosciences, University of São Paulo, São Paulo 05508-090, SP, Brazil.
Pamela V AndradeBrazilian Malignant Hyperthermia Unit, Department of Anesthesiology, Pain and Intensive Care, Federal University of São Paulo, São Paulo 04039-032, SP, Brazil.
Acary S B OliveiraDepartment of Neurology, Federal University of São Paulo, São Paulo 040039-032, SP, Brazil.ORCID 0000-0002-6986-4937
Mariz VainzofHuman Genome and Stem Cells Research Center, Institute of Biosciences, University of São Paulo, São Paulo 05508-090, SP, Brazil.ORCID 0000-0002-2797-0782

Funding

capes 001fapesp 2021/061807
6 · The paper itself

Abstract

BACKGROUND/

objectivesMalignant hyperthermia (MH) is a pharmacogenetic hypermetabolic syndrome triggered by halogenated agents/succinylcholine. Most families present variants in the

objectiveTo present the genetic characteristics of Brazilian individuals with MH history.

methodsWe reviewed clinical and laboratory data from all families referred for evaluation in the Brazilian MH unit due to a personal or family history of MH during anesthesia. Demographic and clinical data were collected, as well as serum creatine kinase (CK) levels, in vitro contracture test (IVCT) results, and the results of anatomopathological studies of skeletal muscle. Molecular analysis was performed using whole-exome sequencing (WES). Patients with and without variants were compared.

resultsWES analysis was available for 61 patients (29 patients who survived an MH crisis and 32 relatives). Variants in the

conclusionIn this preliminary evaluation of Brazilian individuals with MH history, the frequency of

Indexed as

Malignant HyperthermiaRyanodine Receptor Calcium Release ChannelAdolescentAdultBrazilCalcium Channels, L-TypeChildChild, PreschoolExome SequencingFemaleHumansMaleMiddle AgedMutationYoung AdultCACNA1S protein, humanCalcium Channels, L-TypeRyanodine Receptor Calcium Release ChannelRYR1 protein, humanmalignant hyperthermiamyopathyryanodine receptor calcium release channel

Identifiers

PMID41153347
PMCPMC12562892

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.