Independent origin for m.3243A>G mitochondrial mutation in three Venezuelan cases of MELAS syndrome.

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multisystem and progressive neurodegenerative mitochondrial disease, caused by point nucleotide changes in the mtDNA where 80 % of cases have the mutation m.3243A>G in the MT-TL1 gene. In this work, we described the clinical, biochemical and molecular analysis of three Venezuelan patients affected with MELAS syndrome.

[D-2-hydroxyglutaric aciduria. Report of two cases].

D-2-hydroxyglutaric aciduria (D-2-HGA) is a cerebral organic aciduria characterized by the accumulation of abnormal amounts of D-2-hydroxyglutaric acid in cerebrospinal fluid, blood, and urine. The clinical phenotype varies widely from neonatal severe epileptic encephalopathy to asymptomatic. Magnetic resonance imaging of affected patients typically show signs of delayed cerebral maturation, ventricular abnormalities and the presence of sub-ependymal cysts in the first months of life.

[Diagnosis and treatment of methylmalonic aciduria: a case report].

The methylmalonic aciduria is an organic acidemia, inherited as autosomic recessive trait, caused by a deficiency of the methylmalonyl-CoA mutase, or by defects in the biosynthesis of the cofactor adenosylcobalamin. Regarding the enzymatic defect, there are two forms: mut(o) with no detectable enzymatic activity and mut(-) with reduced activity. Its clinical presentation may vary from a severe neonatal form with acidosis and death, up to a progressive chronic form.

An injection from the past: fluoroscopic evidence of remote injections of radiopaque substances.

Objective: Although uncommon, residual effects from contrast agents used more than 2 decades ago are possible. This case report is to alert clinicians to the implications of residual oil-based ionic contrast agents in the intrathecal space.

Case Report: A 70-year-old female with evidence of degenerative disc disease underwent a series of lumbar epidural steroid injections.

The effect of isoflurane and halothane on electroencephalographic activation elicited by repetitive noxious c-fiber stimulation.

Windup is the progressive increase in neuronal response to a repetitive noxious stimulus. This response is most often observed in the spinal cord, but it is unclear how this response is manifested in supraspinal structures. We investigated the effects of isoflurane and halothane on electroencephalographic responses to repetitive noxious electrical stimuli (20 pulses at 0.

Drastic decrease in isoflurane minimum alveolar concentration and limb movement forces after thoracic spinal cooling and chronic spinal transection in rats.

Background: Individuals with spinal cord injury may undergo multiple surgical procedures; however, it is not clear how spinal cord injury affects anesthetic requirements and movement force under anesthesia during both acute and chronic stages of the injury.

Methods: The authors determined the isoflurane minimum alveolar concentration (MAC) necessary to block movement in response to supramaximal noxious stimulation, as well as tail-flick and hind paw withdrawal latencies, before and up to 28 days after thoracic spinal transection. Tail-flick and hind paw withdrawal latencies were measured in the awake state to test for the presence of spinal shock or hyperreflexia.