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| Matos,A.R.; Sambuughin,N.; Rumjanek,F.D.; Amoedo,N.D.; Cunha,L.B.P.; Zapata-Sudo,G.; Sudo,R.T.. |
| Malignant hyperthermia (MH) is a pharmacogenetic disease triggered in susceptible individuals by the administration of volatile halogenated anesthetics and/or succinylcholine, leading to the development of a hypermetabolic crisis, which is caused by abnormal release of Ca2+ from the sarcoplasmic reticulum, through the Ca2+ release channel ryanodine receptor 1 (RyR1). Mutations in the RYR1 gene are associated with MH in the majority of susceptible families. Genetic screening of a 5-generation Brazilian family with a history of MH-related deaths and a previous MH diagnosis by the caffeine halothane contracture test (CHCT) in some individuals was performed using restriction and sequencing analysis. A novel missense mutation, Gly4935Ser, was found in an... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Malignant hyperthermia; Mutation; Ryanodine receptor; Calcium channel. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009001200016 |
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| Sudo,R.T.; Cunha,L.B.P.; Carmo,P.L.; Matos,A.R.; Trachez,M.M.; Cardoso,L.A.M.; Aguiar,M.I.S.; Abreu,A.V.; Zapata-Sudo,G.. |
| Malignant hyperthermia (MH) is a pharmacogenetic disease triggered by volatile anesthetics and succinylcholine. Deaths due to MH have been reported in Brazil. The first Malignant Hyperthermia Diagnostic and Research Center in Latin America was inaugurated in 1993 at the Federal University of Rio de Janeiro, Brazil. The center followed the diagnostic protocols of the North America MH Group, in which the contractures of biopsies from the vastus lateralis muscle are analyzed after exposure to caffeine and halothane (CHCT). CHCT was performed in individuals who survived, their relatives and those with signs/symptoms somewhat related to MH susceptibility (MHS). Here, we report data from 194 patients collected over 16 years. The Southeast (N = 110) and South (N... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Malignant hyperthermia; Diagnosis; Skeletal muscle; Anesthesia. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000600005 |
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| Silva,G.A.P.; Kummerle,A.E.; Antunes,F.; Fraga,C.A.M.; Barreiro,E.J.; Zapata-Sudo,G.; Sudo,R.T.. |
| The N-acylhydrazone (NAH) analogues N-methyl 2-thienylidene 3,4-benzoylhydrazine (LASSBio-785) and N-benzyl 2-thienylidene 3,4-benzoylhydrazine (LASSBio-786) were prepared from 2-thienylidene 3,4-methylenedioxybenzoylhydrazine (LASSBio-294). The ability of LASSBio-785 and LASSBio-786 to decrease central nervous system activity was investigated in male Swiss mice. LASSBio-785 or LASSBio-786 (30 mg/kg, ip) reduced locomotor activity from 209 ± 26 (control) to 140 ± 18 (P < 0.05) or 146 ± 15 crossings/min (P < 0.05), respectively. LASSBio-785 (15 or 30 mg/kg, iv) also reduced locomotor activity from 200 ± 15 to 116 ± 29 (P < 0.05) or 60 ± 16 crossings/min (P < 0.01), respectively. Likewise, LASSBio-786 (15 or 30 mg/kg, iv) reduced locomotor... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: N-acylhydrazone; Locomotor activity; Sedation; Hypnosis; Benzodiazepine receptor; Flumazenil. |
| Ano: 2013 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2013000300263 |
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