ABSTRACT
Urine samples collected from four patients with a mucopolysaccharide storage disease (MPS) and two non-MPS patients were distributed to up to 33 laboratories as a test of their ability to detect abnormal glycosaminoglycan excretion. Seven national reference laboratories made a correct diagnostic assignment to all samples analysed. Qualitative turbidity and spot tests were shown to be unreliable. Failure to identify the excretion pattern occurred when reliance was placed on one-dimensional electrophoresis or thin layer chromatography as the sole method for glycosaminoglycan identification. Two-dimensional electrophoresis appeared to be the method of choice provided that staff had adequate experience in interpretation. Clinically unacceptable delays in analysis were common, with 80% of laboratories taking longer than 10 days to issue a report.
Subject(s)
Glycosaminoglycans/urine , Laboratories/standards , Mucopolysaccharidoses/diagnosis , Child, Preschool , Female , Humans , Infant , Male , Predictive Value of Tests , Quality Control , United KingdomABSTRACT
Leukocytes from 21 obligate carriers in 12 Sanfilippo A families and 49 normal controls were assayed for heparan sulphamidase (EC 3.10.1.1) at 55 degrees C. At this assay temperature the results show an absolute distinction between heterozygous carriers and the normal controls.
Subject(s)
Clinical Enzyme Tests/methods , Genetic Carrier Screening , Hydrolases/analysis , Mucopolysaccharidoses/diagnosis , Mucopolysaccharidosis III/diagnosis , Female , Humans , Leukocytes/enzymology , Male , Mass Screening , Temperature , United KingdomABSTRACT
The response of intermediary metabolite concentrations was measured in six insulin-dependent diabetic men during intravenous low-dose incremental insulin infusion. Insulin was infused during consecutive hours at rates of 0.01 u/kg/h, 0.05 u/kg/h and 0.10 u/kg/h. Each patient was studied on two occasions a month apart using either highly purified porcine or semi-synthetic human short-acting insulin. No difference was observed in the changes in blood glucose, lactate, pyruvate, glycerol, alanine, total ketone bodies or plasma non-esterified fatty acids. Thus no difference could be identified in the actions of intravenous porcine and semi-synthetic human insulin on carbohydrate, fat or ketone body metabolism in vivo.
Subject(s)
Diabetes Mellitus, Type 1/blood , Insulin Infusion Systems , Adult , Blood Glucose/metabolism , Diabetes Mellitus, Type 1/drug therapy , Fatty Acids, Nonesterified/blood , Humans , Insulin/administration & dosage , Insulin/blood , Insulin, Regular, Pork , Ketone Bodies/blood , MaleABSTRACT
An insulin injection device, NovoPen, incorporating cartridged U100 Human Actrapid insulin was used in a group of 31 insulin-dependent diabetic patients aged 31.4 +/- 11.2 years (mean +/- S.D.; range 16.5-57.0) to assess its acceptance and suitability in a regimen involving an injection before each of their three main meals plus an evening injection of Human Monotard insulin from a conventional syringe. Twenty-seven patients completed 48 weeks of NovoPen therapy and preferred to continue with the multiple injection regimen in the long term. The device was well accepted and may make multiple injection regimens more feasible.
