Evidence map›Paper›PMID 39457051›Full record

ArticleInternational journal of molecular sciences2024

Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity.

Nyamkhishig Sambuughin, Ognoon Mungunsukh, Michael G Klein, Mingqiang Ren, Peter Bedocs, Josh B Kazman, Kristen Cofer, Liam P Friel, Beth McNally, Kyung Kwon and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. 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

15 authors.

Nyamkhishig SambuughinConsortium for Health and Military Performance, Department of Military and Emergency Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, MD 20814, USA.ORCID 0000-0002-5958-3744
Ognoon MungunsukhHenry M. Jackson Foundation for the Advancement of Military Medicine, Inc., Bethesda, MD 20817, USA.
Michael G KleinMilitary Cardiovascular Outcomes Research, Cardiology Division, Department of Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, MD 20814, USA.
Mingqiang RenConsortium for Health and Military Performance, Department of Military and Emergency Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, MD 20814, USA.ORCID 0000-0002-1561-7711
Peter BedocsHenry M. Jackson Foundation for the Advancement of Military Medicine, Inc., Bethesda, MD 20817, USA.
Josh B KazmanConsortium for Health and Military Performance, Department of Military and Emergency Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, MD 20814, USA.
Kristen CoferConsortium for Health and Military Performance, Department of Military and Emergency Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, MD 20814, USA.
Liam P FrielConsortium for Health and Military Performance, Department of Military and Emergency Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, MD 20814, USA.
Beth McNallyConsortium for Health and Military Performance, Department of Military and Emergency Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, MD 20814, USA.
Kyung KwonConsortium for Health and Military Performance, Department of Military and Emergency Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, MD 20814, USA.
Mark C HaigneyMilitary Cardiovascular Outcomes Research, Cardiology Division, Department of Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, MD 20814, USA.ORCID 0000-0001-6449-4386
Jeffrey C LeggitConsortium for Health and Military Performance, Department of Military and Emergency Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, MD 20814, USA.
Marzena PazgierInfectious Disease Division, Department of Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, MD 20184, USA.ORCID 0000-0003-0594-5057
Patricia A DeusterConsortium for Health and Military Performance, Department of Military and Emergency Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, MD 20814, USA.ORCID 0000-0002-7895-0888
Francis G O'ConnorConsortium for Health and Military Performance, Department of Military and Emergency Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, MD 20814, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Environmental heat stress represents a pervasive threat to warfighters, athletes, and occupational workers, impacting performance and increasing the risk of injury. Exertional heat illness (EHI) is a spectrum of clinical disorders of increasing severity. While frequently predictable, EHI can occur unexpectedly and may be followed by long-term comorbidities, including cardiovascular dysfunction and exercise intolerance. The objective of this study was to assess genetic factors contributing to EHI. Whole-exome sequencing was performed in a cohort of 53 cases diagnosed with EHI. Rare variants in prioritized gene sets were analyzed and classified per published guidelines. Clinically significant pathogenic and potentially pathogenic variants were identified in 30.2% of the study cohort. Variants were found in 14 genes, including the previously known

Indexed as

Exome SequencingHeat Stress DisordersAdultFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedPhysical ExertionRyanodine Receptor Calcium Release ChannelTRPM Cation ChannelsRyanodine Receptor Calcium Release ChannelTRPM Cation Channelsexertional heat illnessgenetic heterogeneityrare variantvariant pathogenicitywhole-exome sequencing

Identifiers

PMID39457051
PMCPMC11508780

What OpenQuestion holds

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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.