Rabbit Anti-Human ACADS (C-terminal) Polyclonal antibody

On the basis of the Australian Computer Society(ACADS)'s typical questionsl(a),first, regardless of the slope in the case of pore water pressure, used FLAC procedure calculate the safety factor, the result was very close to the reference answer given by ACADS, we can see the accuracy of FLAC. Then, applied to the slope of different pore water pressure, obtained safety factor under corresponding conditions, then, we found that the pore water pressure had effect on the slope safety factor, but the influence are not same, when the pore water pressure less than a certain value, the influence are very small, but, when the pore water pressure exceeded this value, the influence became very large.

Reports on magnetic resonance imaging findings in patients with short chain acyl -Coenzyme A dehydrogenase (SCAD) deficiency, an autosomal recessive disorder caused by mutations in the acyl-Coenzyme A dehydrogenase (ACADS), are limited. Many asymptomatic carriers of ACAD variants have also been described necessitating careful evaluation of clinical and biochemical findings for an accurate diagnosis. Here we report a an infant with short chain acyl -Coenzyme A dehydrogenase (SCAD) deficiency diagnosed based on the characteristic biochemical findings and confirmed by genetic testing. He presented with refractory seizures and neuro regression at 4 months of age. His metabolic work up revealed elevated butyryl carnitine in plasma and ethyl malonic acid in urine. Magnetic resonance imaging of the brain showed cortical and basal ganglia signal changes with cortical swelling. Serial scans showed progression of the lesions resulting in cystic leukomalacia with brain atrophy. Exome sequencing revealed a novel homozygous nonsense variation, c.1146C > G (p.Y382Ter) in exon ten of ACADS which was further validated by Sanger sequencing. Both parents were heterozygous carriers. Follow up at 15 months showed gross psychomotor retardation and refractory seizures despite being on optimal doses of anti-epileptic medications, carnitine and multivitamin supplementation. This report expands the phenotypic and genotypic spectrum of SCAD deficiency.