Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following combinations of POLG mutations: 1) A467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T/A467T, and 4) A467T/G848S. Homozygosity for the A467T allele in one patient was associated with a later age at onset. Mitochondrial respiratory chain studies in skeletal muscle were normal in each case. Nine combinations of mutant POLG alleles that cause Alpers syndrome are summarized.
The greater improvement in clause frequency after the video case compared with the equivalent text suggests an improvement in data exploration, theory building and theory evaluation. The use of patient video recordings may be a valuable supplement to postgraduate paediatric training, particularly pertaining to movement disorders.
The severe psychological reactions of most parents to the first febrile convulsions of their child contrast with the doctors' consideration of febrile convulsions as a simple and benign phenomenon. Fifty-two parents whose child had been admitted with febrile convulsions were interviewed about their immediate and long-term reactions. Most of the parents knew little about febrile convulsions before the fit. Parents with previous knowledge of febrile convulsions took more appropriate measures during the fit than parents without such knowledge. Sixty per cent of the parents slept restlessly for some time after the fit, 13% watched their child at night, and 29% had dyspeptic symptoms. Parents of young children should as a routine be offered general information by the family doctor about fever and febrile convulsions. Parents who have watched their child during a fit need specific information in order to avoid long-term reactions.
Clinicians of varying expertise analyse patient video cases differently. Clinical teachers should take these differences into account when optimising educational formats with patient video cases.
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