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Quoted phrase not found in phrase index: "Rhabdomyolysis, susceptibility to, 1"
Page 1
Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT. Lawal TA, et al. Skelet Muscle. 2020 Nov 16;10(1):32. doi: 10.1186/s13395-020-00243-4. Skelet Muscle. 2020. PMID: 33190635 Free PMC article. Review.
The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to malignant hyperthermia we …
The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscl …
Statin-associated myopathy: from genetic predisposition to clinical management.
Vrablik M, Zlatohlavek L, Stulc T, Adamkova V, Prusikova M, Schwarzova L, Hubacek JA, Ceska R. Vrablik M, et al. Physiol Res. 2014;63(Suppl 3):S327-34. doi: 10.33549/physiolres.932865. Physiol Res. 2014. PMID: 25428737 Free article. Review.
Statin-associated myopathy (SAM) represents a broad spectrum of disorders from insignificant myalgia to fatal rhabdomyolysis. Its frequency ranges from 1-5 % in clinical trials to 15-20 % in everyday clinical practice. To a large extent, these variations can be expl …
Statin-associated myopathy (SAM) represents a broad spectrum of disorders from insignificant myalgia to fatal rhabdomyolysis. Its fre …
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.
van den Bersselaar LR, van Alfen N, Kruijt N, Kamsteeg EJ, Fernandez-Garcia MA, Treves S, Riazi S, Yang CY, Malagon I, van Eijk LT, van Engelen BGM, Scheffer GJ, Jungbluth H, Snoeck MMJ, Voermans NC. van den Bersselaar LR, et al. J Neuromuscul Dis. 2023;10(4):541-554. doi: 10.3233/JND-230018. J Neuromuscul Dis. 2023. PMID: 37154182 Free PMC article.
METHODS: We performed a prospective cross-sectional observational muscle ultrasound study in patients with a history of RYR1-related MH susceptibility (n = 40). ...CONCLUSIONS: Patients with RYR1 variants resulting in MH susceptibility often have muscle ultra …
METHODS: We performed a prospective cross-sectional observational muscle ultrasound study in patients with a history of RYR1-related …
'Fire and forget?' - pharmacological considerations in coronary care.
Bottorff M. Bottorff M. Atherosclerosis. 1999 Sep 9;147 Suppl 1:S23-30. doi: 10.1016/s0021-9150(99)00252-x. Atherosclerosis. 1999. PMID: 10575059 Review.
Some statins have been used for secondary prevention of coronary heart disease (CHD) in these patients and are not all equivalent in their susceptibility to drug-drug interactions. ...When selecting drug therapy, knowledge of a drug's route of metabolism is importan …
Some statins have been used for secondary prevention of coronary heart disease (CHD) in these patients and are not all equivalent in …
Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.
Hoppe K, Jurkat-Rott K, Kranepuhl S, Wearing S, Heiderich S, Merlak S, Klingler W. Hoppe K, et al. Sci Rep. 2021 Feb 9;11(1):3445. doi: 10.1038/s41598-021-82024-7. Sci Rep. 2021. PMID: 33564012 Free PMC article. Clinical Trial.
Variants of unknown significance were subdivided into 19 malignant-hyperthermia-susceptible individuals and 2 non-malignant-hyperthermia-susceptible individuals. ...However, due to potential genotype-phenotype discordance, bioinformatic prediction tools are c …
Variants of unknown significance were subdivided into 19 malignant-hyperthermia-susceptible individuals and 2 non-malignant-hyperther …
Dietary docosahexaenoic acid plays an opposed role in ferroptotic and non-ferroptotic acute kidney injury.
Shan K, Li J, Yang Q, Chen K, Zhou S, Jia L, Fu G, Qi Y, Wang Q, Chen YQ. Shan K, et al. J Nutr Biochem. 2023 Oct;120:109418. doi: 10.1016/j.jnutbio.2023.109418. Epub 2023 Jul 23. J Nutr Biochem. 2023. PMID: 37490984
Results showed that these two types of AKIs had diametrically different pathogenesis indicated by that ferrostatin-1 (Fer-1), a lipid antioxidant, can attenuate FA-AKI rather than Rha-AKI. ...Ferroptosis inducer-induced cell death was promoted by DHA, while such res …
Results showed that these two types of AKIs had diametrically different pathogenesis indicated by that ferrostatin-1 (Fer-1), …
Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH).
Riazi S, Bersselaar LRVD, Islander G, Heytens L, Snoeck MMJ, Bjorksten A, Gillies R, Dranitsaris G, Hellblom A, Treves S, Kunst G, Voermans NC, Jungbluth H. Riazi S, et al. Neuromuscul Disord. 2022 Aug;32(8):628-634. doi: 10.1016/j.nmd.2022.06.003. Epub 2022 Jun 11. Neuromuscul Disord. 2022. PMID: 35738978 Free article.
We investigated the role of pre-operative exercise and pyrexia as potential MH modifying factors. We included cases from 5 MH referral centers with 1) clinical features suggestive of MH, 2) confirmation of MH susceptibility on Contracture Testing (IVCT or CHCT) and/ …
We investigated the role of pre-operative exercise and pyrexia as potential MH modifying factors. We included cases from 5 MH referral cente …
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.
Witting N, Laforêt P, Voermans NC, Roux-Buisson N, Bompaire F, Rendu J, Duno M, Feillet F, Kamsteeg EJ, Poulsen NS, Dahlqvist JR, Romero NB, Fauré J, Vissing J, Behin A. Witting N, et al. Acta Neurol Scand. 2018 May;137(5):452-461. doi: 10.1111/ane.12885. Epub 2017 Dec 29. Acta Neurol Scand. 2018. PMID: 29635721
OBJECTIVES: Rhabdomyolysis and myalgia are common conditions, and mutation in the ryanodine receptor 1 gene (RYR1) is suggested to be a common cause. ...RESULTS: Twenty-two patients with recurrent rhabdomyolysis (CK > 10 000) or myalgia with hyperCKemia (& …
OBJECTIVES: Rhabdomyolysis and myalgia are common conditions, and mutation in the ryanodine receptor 1 gene (RYR1) is suggeste …
Referral Indications for Malignant Hyperthermia Susceptibility Diagnostics in Patients without Adverse Anesthetic Events in the Era of Next-generation Sequencing.
van den Bersselaar LR, Hellblom A, Gashi M, Kamsteeg EJ, Voermans NC, Jungbluth H, de Puydt J, Heytens L, Riazi S, Snoeck MMJ. van den Bersselaar LR, et al. Anesthesiology. 2022 Jun 1;136(6):940-953. doi: 10.1097/ALN.0000000000004199. Anesthesiology. 2022. PMID: 35285867 Free article.
RESULTS: A total of 520 medical records were included, with the three most frequent referral indications as follows: personal history of an adverse anesthetic event (211 of 520; 40.6%), family history of an adverse anesthetic event (115 of 520; 22.1%), and exertional and/o …
RESULTS: A total of 520 medical records were included, with the three most frequent referral indications as follows: personal history of an …
Oral Dantrolene for Myopathic Symptoms in Malignant Hyperthermia-Susceptible Patients: A 25-Year Retrospective Cohort Study of Adverse Effects and Tolerability.
Ibarra Moreno CA, Kraeva N, Zvaritch E, Jungbluth H, Voermans NC, Riazi S. Ibarra Moreno CA, et al. Anesth Analg. 2023 Mar 1;136(3):569-577. doi: 10.1213/ANE.0000000000006207. Epub 2022 Oct 6. Anesth Analg. 2023. PMID: 36201369 Free PMC article.
BACKGROUND: Patients susceptible to malignant hyperthermia (MH) may experience disabling manifestations of an unspecified myopathy outside the context of anesthesia, including myalgia, fatigue, or episodic rhabdomyolysis. Clinical observations suggest that or …
BACKGROUND: Patients susceptible to malignant hyperthermia (MH) may experience disabling manifestations of an unspecified myopathy ou …
17 results