Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024591 (malignant hyperthermia)
 2,353 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Malignant hyperthermia is a rare, potentially life threatening pharmacogenetic disorder triggered by volatile anaesthetics and depolarizing muscle relaxants. The clinical picture comprises rhabdomyolysis, metabolic and respiratory acidosis, and hyperthermia. Carnitine palmitoyltransferase II deficiency is a metabolic myopathy affecting the transport of fatty acids into the mitochondria, leading to impaired energy supply under stressful conditions resulting in muscle weakness and rhabdomyolysis. It was postulated in a previous study that some patients with the MH phenotype have a carnitine palmitoyltransferase deficiency. To investigate a potential association, we tested 18 individuals with proven MH susceptibility for impairment of carnitine palmitoyltransferase enzyme activity in muscle. Enzyme activity was normal in all individuals tested indicating no impairment of the CPT system in this sample of malignant hyperthermia susceptible individuals. Thus our data do not support the hypothesis that susceptibility to malignant hyperthermia has an effect on the carnitine palmitoyltransferase enzyme system.
 ...
PMID:No carnitine palmitoyltransferase deficiency in skeletal muscle in 18 malignant hyperthermia susceptible individuals. 1843 May 72

The present study examined the concurrent validity of a new computer-assisted ADHD screening system, the Pediatric Attention Disorders Diagnostic Screener (PADDS; Pedigo, Pedigo, & Scott, 2006) in relation to the Test of Variables of Attention (TOVA; Greenberg, 1999), the Conner's Continuous Performance Test- II (CPT-II; Conners & MHS Staff, 2000), and the Behavior Rating Inventory of Executive Function (BRIEF; Gioia, Isquith, Guy, & Kenworthy, 2000) in three clinically referred samples of children 6 to 12 years of age. The PADDS is a recently published multidimensional screening measure that incrementally merges computer-administered executive tasks with parent and teacher behavior ratings to aid in the diagnostic decision-making process for youth with attention disorders. To date, no published study has examined the concurrent validity of the PADDS. In a clinic-referred sample of 217 subjects diagnosed with ADHD concurrent validity was assessed through correlation coefficients, paired t-tests (p < .001), and Cohen's d effect sizes. In comparison to the TOVA, the CPT-II, and the BRIEF scales, the PADDS demonstrated strong concurrent validity between conceptually similar scales, providing initial evidence for the concurrent validity of the PADDS. Relative to other measures, the PADDS appears to have some unique scales designed to assess attention and various aspects of executive functioning.
 ...
PMID:Concurrent validity of the pediatric attention disorders diagnostic screener for children with ADHD. 2048 95