Publications by authors named "D Roiz-de-Sa"

Exertional heat illness (EHI) is an occupational health hazard for athletes and military personnel-characterised by the inability to thermoregulate during exercise. The ability to thermoregulate can be studied using a standardised heat tolerance test (HTT) developed by The Institute of Naval Medicine. In this study, we investigated whole blood gene expression (at baseline, 2 h post-HTT and 24 h post-HTT) in male subjects with either a history of EHI or known susceptibility to malignant hyperthermia (MHS): a pharmacogenetic condition with similar clinical phenotype.

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Introduction: Despite mitigation efforts, exertional heat stroke (EHS) is known to occur in military personnel during training and operations. It has significant potential to cause preventable morbidity and mortality. International consensus from sports medicine organisations supports treating EHS with early rapid cooling by immersing the casualty in cold water.

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Introduction: The UK military operates a Heat Illness Clinic (HIC) to aid the return to exercise, training and occupational duty recommendations for individuals who have suffered exertional heat illness or heatstroke. This paper describes the process of assessment and reports representative data from n=22 patients referred to the HIC.

Method: The assessment included clinical consultation, and measurement of maximal oxygen consumption (V̇Omax) and a heat tolerance test (HTT) conducted on a treadmill in an environmental chamber with an air temperature of 34°C and 44% relative humidity.

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Heat illness remains a significant threat to health in the UK Armed Forces despite recent improvements in the prevention of cases. A small number of heat illness survivors develop long-term neurological sequelae. Here we briefly review the background literature and present our experience of treating UK Armed Forces patients with neurological consequences of heat illness.

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Background: We aimed to identify rare (minor allele frequency ≤1%), potentially pathogenic non-synonymous variants in a well-characterised cohort with a clinical history of exertional heat illness (EHI) or exertional rhabdomyolysis (ER). The genetic link between malignant hyperthermia (MH) and EHI was investigated due to their phenotypic overlap.

Methods: The coding regions of 38 genes relating to skeletal muscle calcium homeostasis or exercise intolerance were sequenced in 64 patients (mostly military personnel) with a history of EHI, or ER and who were phenotyped using skeletal muscle in vitro contracture tests.

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