Evidence map›Paper›PMID 41098966›Full record

ArticleCase reports in genetics2025

Mitochondrial Dysfunction in Sickle Cell Trait Carriers With Exertional Collapse.

Kristen A Cofer, Liam Friel, Mingqiang Ren, Carolyn Dartt, Francesca Cariello, Kyung Kwon, Patricia A Deuster, Nyamkhishig Sambuughin, Tianzheng Yu, Francis G O'Connor

Abstract readCase Reports
In one paragraph

Article in Case reports in genetics, 2025. 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
–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

0 citing papers in PubMed.

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.

Kristen A CoferConsortium for Health and Military Performance, Department of Military and Emergency Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, Maryland, USA.ORCID https://orcid.org/0009-0007-3690-5409
Liam FrielConsortium for Health and Military Performance, Department of Military and Emergency Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, Maryland, USA.ORCID https://orcid.org/0009-0008-6297-4878
Mingqiang RenConsortium for Health and Military Performance, Department of Military and Emergency Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, Maryland, USA.ORCID https://orcid.org/0000-0002-1561-7711
Carolyn DarttConsortium for Health and Military Performance, Department of Military and Emergency Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, Maryland, USA.ORCID https://orcid.org/0000-0002-7554-5254
Francesca CarielloConsortium for Health and Military Performance, Department of Military and Emergency Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, Maryland, USA.ORCID https://orcid.org/0009-0002-6186-3523
Kyung KwonConsortium for Health and Military Performance, Department of Military and Emergency Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, Maryland, USA.ORCID https://orcid.org/0009-0000-4505-0640
Patricia A DeusterConsortium for Health and Military Performance, Department of Military and Emergency Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, Maryland, USA.ORCID https://orcid.org/0000-0002-7895-0888
Nyamkhishig SambuughinConsortium for Health and Military Performance, Department of Military and Emergency Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, Maryland, USA.ORCID https://orcid.org/0000-0002-5958-3744
Tianzheng YuConsortium for Health and Military Performance, Department of Military and Emergency Medicine, F. Edward Hébert School of Medicine, Uniformed Services University, Bethesda, Maryland, USA.ORCID https://orcid.org/0000-0003-0236-015X
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, Maryland, USA.ORCID https://orcid.org/0000-0002-2276-3805

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Sickle cell trait (SCT) increases the risk of sudden death and exertional rhabdomyolysis (ER) in athletes and Service Members (SMs) during intense exercise. Exertional injuries in SCT carriers can result in exercise collapse associated with SCT (ECAST), an under-recognized condition characterized by variable clinical presentations ranging from ischemic muscle pain to fulminant collapse. This study presents clinical and genetic findings of two independent Black SMs with history of ECAST triggered by strenuous exercise. ECAST cases carried pathogenic heterozygous mutations

Indexed as

exertional injurymitochondrial depletionpathogenic variantrhabdomyolysissickle cell trait

Identifiers

PMID41098966
PMCPMC12520808

What Socratic 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 Socratic graph.