In spite of variable clinical expression, children with 22q11 deletion share a number of major features and have a characteristic phenotype. A high proportion have no cardiac defect and hence a risk of diagnostic delay. Increased awareness and knowledge among general paediatricians and other specialists who meet these children early in life is needed to reduce the diagnostic delay.
In children with mitochondrial disease, cardiomyopathy was common (17%) and was associated with increased mortality. The prognosis for children with cytochrome-c oxidase deficiency and cardiomyopathy appeared to be particularly unfavorable.
The effect of training on the skeletal muscle metabolism of 11‐to 13‐year‐old boys was examined. In one experiment changes in blood lactate, and muscle lactate, CP, ATP, and glycogen were determined at rest and following exercise before and after 4 months of training. The concentrations of glycogen, CP and ATP at rest were higher (P<0.01) following training. Blood and muscle lactate were 23 and 56 % higher after maximal work following training. A greater reduction in muscle glycogen occurred during maximal work after training but the pattern for ATP and CP depletion was unchanged. In a second experiment boys trained by pedalling a bicycle ergometer an average of 30 min 3 times a week for 6 weeks. Biopsy samples of the vastus lateralis were examined for oxidative (succinate dehydrogenase) and anaerobic (phosphofructokinase) capacity before and after training. The fiber composition and relative oxidative capacity in the fibers was determined histochemically. Succinate dehydrogenase and phosphofructokinase activities increased 30 and 83 %, respectively, following training. Fiber distribution was unchanged by training but the oxidative capacity of both fiber types appeared to increase.
See Kreisl (doi:10.1093/awx151) for a scientific commentary on this article.Subjects with mild cognitive impairment associated with cortical amyloid-β have a greatly increased risk of progressing to Alzheimer's disease. We hypothesized that neuroinflammation occurs early in Alzheimer's disease and would be present in most amyloid-positive mild cognitive impairment cases. 11C-Pittsburgh compound B and 11C-(R)-PK11195 positron emission tomography was used to determine the amyloid load and detect the extent of neuroinflammation (microglial activation) in 42 mild cognitive impairment cases. Twelve age-matched healthy control subjects had 11C-Pittsburgh compound B and 10 healthy control subjects had 11C-(R)-PK11195 positron emission tomography for comparison. Amyloid-positivity was defined as 11C-Pittsburgh compound B target-to-cerebellar ratio above 1.5 within a composite cortical volume of interest. Supervised cluster analysis was used to generate parametric maps of 11C-(R)-PK11195 binding potential. Levels of 11C-(R)-PK11195 binding potential were measured in a selection of cortical volumes of interest and at a voxel level. Twenty-six (62%) of 42 mild cognitive impairment cases showed a raised cortical amyloid load compared to healthy controls. Twenty-two (85%) of the 26 amyloid-positive mild cognitive impairment cases showed clusters of increased cortical microglial activation accompanying the amyloid. There was a positive correlation between levels of amyloid load and 11C-(R)-PK11195 binding potentials at a voxel level within subregions of frontal, parietal and temporal cortices. 11C-(R)-PK11195 positron emission tomography reveals increased inflammation in a majority of amyloid positive mild cognitive impairment cases, its cortical distribution overlapping that of amyloid deposition.
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