Assessment of childhood diabetes-related quality-of-life in West Sweden.

Aim: To investigate health-related quality-of-life (HrQoL) in childhood diabetes and the level of agreement between West Sweden and European reference data for the new multi-cultural European questionnaire - DISABKIDS.

Method: Twenty percent of the Swedish paediatric diabetes population was included in the survey. Child-parent pairs completed the DISABKIDS chronic generic (37 questions) and diabetes modules (10 questions) during their routine clinic visit.

An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).

Familial hypercholesterolemia (FH) is caused by a defect in the function of the low density lipoprotein (LDL) receptor and inherited in an autosomal, codominant way. In this study we present a 13-year-old girl, compound heterozygote for the LDL receptor mutations C240F and Y167X. Fibroblasts from the patient showed very low cholesterol esterification rate, LDL uptake, and degradation compared to normal fibroblasts (< 2%, 8%, and < 2%, respectively).

Inhalation of racemic epinephrine in children with asthma. Dose-response relation and comparison with salbutamol.

In this study the effects of nebulized racemic epinephrine (Micronephrine) were investigated in children with asthma. The drug was inhaled by a compressor nebulizer with a plastic mask. In the first part of the study it is shown that nebulized Micronephrine has a dose-dependent bronchodilatory effect.