RESUMEN

Whole exome sequencing (WES) was used to determine the primary cause of muscle disorder in a family diagnosed with a mild, undetermined myopathy and malignant hyperthermia (MH) susceptibility (MHS). WES revealed the compound heterozygous mutations, p.Ile235Asn and p.Glu982Lys, in ATP2A1, encoding the sarco(endo)plasmic reticulum Ca(2+) ATPase type 1 (SERCA1), a calcium pump, expressed in fast-twitch muscles. Recessive mutations in ATP2A1 are known to cause Brody myopathy, a rare muscle disorder characterized by exercise-induced impairment of muscle relaxation and stiffness. Analyses of affected muscles showed the absence of SERCA1, but SERCA2 upregulation in slow and fast myofibers, suggesting a compensatory mechanism that partially restores the diminished Ca(2+) transport in Brody myopathy. This compensatory adaptation to the lack of SERCA1 Ca(2+) pumping activity within the muscle explains, in part, the mild course of disease in our patient. Diagnosis of MHS in this family was secondary to a loss of SERCA1 due to disease-associated mutations. Although there are obvious differences in clinical expression and molecular mechanisms between MH and Brody myopathy, a feature common to both conditions is elevated myoplasmic Ca(2+) content. Prolonged intracellular Ca(2+) elevation is likely to have led to MHS diagnosis in vitro and postoperative MH-like symptoms in Brody patient.

RESUMEN

Our goal was to test the hypothesis that-given the barbiturates' novel ability to reduce brain temperature-the high prevalence of reports describing cerebral protection by barbiturates in animal models are, in part, the result of inadvertent cerebral hypothermia. We reviewed all published reports evaluating barbiturate protection in animal models of focal cerebral ischemia where functional or anatomic endpoints were assessed. Presence or absence of protection, and additionally the year of publication, were tabulated. Temperature monitoring was categorized as: (a) not monitored, (b) inadequately monitored (ie, temperature monitored, but not at appropriate sites or times), or (c) adequately monitored (brain or cranial temperature monitored at appropriate times, with or without core temperature). Twenty eight references published between 1974 and 2008 described 57 separate protocols. Cerebral protection by barbiturates was reported in 35 of 57 (61%) protocols. Temperature was not monitored in 10 protocols (18%), inadequately monitored in 32 (56%), and adequately monitored in 15 (26%). Although the majority (32 of 57; 56%) of the protocols were published before December 1987, none of these properly monitored temperature. In the protocols published in 1988 or later, 15 of 25 (60%) had proper temperature monitoring and 9 of the 15 (60%) reported protection by the barbiturates. Very few (ie, 15 of 57; 26%) protocols were capable of distinguishing between direct cerebral protection by the barbiturates and an artifactual, hypothermia-related, effect. However, among those protocols having proper temperature monitoring, there remained considerable evidence of barbiturate protection.

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RESUMEN

Transient global amnesia (TGA) is an amnestic syndrome, clinically dramatic but benign in nature. The hallmark of TGA is brief inability to form new memories and recall past memories despite otherwise normal neurological function. In a significant number of patients with TGA a stressful precipitating factor can be identified. We report two cases of TGA after uneventful general anesthesia. Anesthesia per se does not appear to be a direct trigger of TGA, as our first patient had a second anesthetic the next day without recurrence of TGA. Because the presentation of TGA can be dramatic and may mimic an acute cerebral ischemic event, a thorough neurologic evaluation should be pursued.

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RESUMEN

Two patients with spine disease were unable to tolerate supine placement for magnetic resonance imaging (MRI) because of severe back pain. General anesthesia was administered to enable the patients to undergo MRI. Both patients awakened from anesthesia with new-onset paraplegia and underwent emergency decompressive laminectomy. Acute paraplegia after anesthesia occurs infrequently and is most commonly associated with mechanical injury, vascular compromise, or anesthetic technique. The physical limitations of the MRI environment make it difficult to position some patients in a manner that accommodates their pathophysiology and may place certain patients at risk of neurologic compromise. For this subset of patients, the necessity of MRI with general anesthesia should be reassessed and alternative imaging methods considered.

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