Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family.

Autosomal-recessive hereditary inclusion-body myopathy with relative quadriceps sparing is associated with mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Two Italian sisters affected with autosomal-recessive hIBM were shown to be compound heterozygous for a novel GNE mutation: a p.A310P amino acid change along with a p.

Sympathetic vasomotor response of the radial artery in patients with diabetic foot syndrome.

Objective: Neurophysiological assessment of the peripheral autonomic system is characterized by various limitations. An alternative approach to laser Doppler and venous plethymography is the assessment of the sympathetic vasomotor response of the radial artery obtained by continuous wave Doppler sonography. Nomogram data have been established and demonstrate the temporary disappearance of diastolic flow after coughing or deep inspiration.