Wiener klinische Wochenschrift
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Wien. Klin. Wochenschr. · Dec 2012
Case ReportsClinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency.
Two symptomatic patients with heterozygous carnitine palmitoyltransferase II (CPT II) deficiency are reported. Patient 1, a 21-year-old female professional tennis player, suffered from exercise-induced attacks of muscle pain, burning sensations and proximal weakness. Patient 2, a 30-year-old male amateur marathon runner developed muscle cramps and rhabdomyolysis upon extensive exercise and insolation-induced fever. ⋯ No second mutation could be found upon sequencing of all the exons of CPT2 gene including exon-intron boundaries. Biochemically, residual CPT activity in muscle homogenate upon inhibition by malonyl-CoA and Triton-X-100 was intermediate between controls and patients with mutations on both alleles. Although CPT II deficiency is an autosomal recessive disorder, the reported patients indicate that heterozygotes might also have typical attacks of myalgia, pareses or rhabdomyolysis.
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This position statement reflects the opinion of the Austrian Diabetes Association concerning the perioperative management of patients with diabetes mellitus based on the available scientific evidence. The paper covers necessary preoperative examinations from an internal/diabetological point of view as well as the perioperative metabolic control by means of oral antidiabetics and/or insulin therapy.
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These are the guidelines for preventive care, diagnosis and treatment of the diabetic foot syndrome. Diabetic neuropathy, peripheral vascular disease, bone deformity and altered biomechanics are foot-related risk conditions. The position statement is focused on screening methods and recommendations for clinical care for diabetics, who currently have no foot ulcers. A decision pathway is offered with respect to diagnosis and management of diabetic patients at an increased risk or manifest injuries.