New genes in neuromuscular diseases

Malignant hyperthermia (MH) and Exertional Heat Stroke (EHS) present hypermetabolic states leading to rhabdomyolysis and muscle rigidity with progressive hyperthermia; MH is triggered by volatile inhaled anesthetics, while EHS is triggered by exercise in hot/humid environment. Given the similarity of clinical features and the fact that a portion of EHS cases were diagnosed as MH susceptible by the in vitro contracture test, MH and EHS are believed to share common etiology. Mutations in RYR1 and CACNA1S have been found to be associated with MH; however the genetic cause remains to be identified in approximately 30% of MH cases.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research

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Source: Hospital Practice - Category: Hospital Management Authors: Source Type: research
In conclusion, we made improvements to a stable EHS-induced RM animal model to truly reflect the clinical characteristics of EHS patients. This new model should be helpful in the further study of RM pathogenesis.
Source: Frontiers in Physiology - Category: Physiology Source Type: research
Heat stroke is a serious medical condition that can cause multiple organ dysfunction, including central nervous system damage. The complications of heat stroke occur because of hypoperfusion, an inflammatory response, and thrombosis, resulting in variable ...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Environmental Issues, Climate, Geophysics Source Type: news
Abstract Ischemic colitis primarily affects the elderly with underlying disease, but it rarely occurs in young adults with risk factors, such as coagulopathy or vascular disorder. Moreover, it is extremely rare in the very young without risk factors. This paper presents a patient with ischemic colitis associated with heat stroke and rhabdomyolysis after intense exercise under high-temperature conditions. A 20-year-old man presented with mental deterioration after a vigorous soccer game for more than 30 minutes in sweltering weather. He also presented with hematochezia with abdominal pain. The laboratory tests reve...
Source: Korean J Gastroenter... - Category: Gastroenterology Authors: Tags: Korean J Gastroenterol Source Type: research
Authors: Will JS, Snyder CJ, Westerfield KL Abstract Exertional Heat Illness with associated ischemic hepatitis (IH) is a common occurrence among military trainees; however, few specific therapies exist if unresponsive to appropriate supportive measures. A 27-year-old basic combat trainee presented with altered mental status, renal insufficiency, rhabdomyolysis, and a core temp of 107.9 °F after collapsing during a run, leading to the diagnosis of heat stroke. While the patient's azotemia and creatinine kinase levels rapidly improved with aggressive intravenous hydration, transaminases continued to increase to ...
Source: Military Medicine - Category: International Medicine & Public Health Tags: Mil Med Source Type: research
Authors: Kumar NS, Basu S Abstract The classical bone scan findings of Rhabdomyolysis is presented in this illustration. A 60 year old female patient with complaints of low backache and bilateral lower limbs weakness over 1 year was referred for whole body skeletal status evaluation. Whole body skeletal scintigraphy undertaken 3 hrs after I.V injection of 15 mci of 99mTc-MDP revealed bilaterally symmetrical diffuse skeletal muscle tracer activity in deltoid, lattisimus dorsi, diaphragm, paraspinal muscles, gluteus muscles and muscles of thigh. On biochemical investigations for evaluation of skeletal muscle uptake r...
Source: Journal of the Association of Physicians of India - Category: General Medicine Tags: J Assoc Physicians India Source Type: research
By mid-afternoon on August 1, 2017, the temperature in Stockton, Calif. was at least 105 degrees. Thirteen-year-old Jayden Galbert complained to his mother, Shynelle Jones, about the heat, but didn’t want to skip preseason football practice and hurt his chances of making the freshman football team. Instead, he showed up, pushed himself to participate, and then collapsed on the field. “He started vomiting and he was shaking,” Jones says. “He couldn’t see. He was trying to focus, but he couldn’t.” Jayden was eventually airlifted to UC Davis Medical Center, where he was diagnosed with...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized health heat stroke high school sports Source Type: news
By mid-afternoon on August 1, 2017, the temperature in Stockton, Calif. was at least 105 degrees. Thirteen-year-old Jayden Galbert complained to his mother, Shynelle Jones, about the heat, but didn’t want to skip preseason football practice and hurt his chances of making the freshman football team. Instead, he showed up, pushed himself to participate, and then collapsed on the field. “He started vomiting and he was shaking,” Jones says. “He couldn’t see. He was trying to focus, but he couldn’t.” Jayden was eventually airlifted to UC Davis Medical Center, where he was diagnosed with...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized health heat stroke high school sports Source Type: news
CONCLUSIONS:   Using a gradual RTP progression and close monitoring, a high school defensive end successfully returned to football practice and games after EHS. This case demonstrates the feasibility of implementing a safe RTP protocol after EHS and may serve as a guide to ATs working in the high school setting. This case also highlights the need for more research in this area. PMID: 29373058 [PubMed - as supplied by publisher]
Source: J Athl Train - Category: Sports Medicine Authors: Tags: J Athl Train Source Type: research
AbstractThe crush syndrome, in which rhabdomyolysis and trauma occur as a result of heat stroke and drug intoxication, can lead to myoglobinemia. This condition can be diagnosed by measuring myoglobin (Mb) levels in blood and urine. However, postmortem Mb levels are unreliable indicators, since blood Mb concentration drastically increases within a very short time after death and urine cannot always be obtained at dissection; this makes it difficult to diagnose myoglobinemia in a corpse. To address this issue, in this study, we used a lipidomics approach to identify markers that can be used to detect myoglobinemia in postmo...
Source: International Journal of Legal Medicine - Category: Medical Law Source Type: research
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