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No part of this publication may be reproduced in any form, in an electronic retrieval system or otherwise, without the prior written permission of the publisher. Abstract: The content and qualities of a good software requirements specification (SRS) are described and several sample SRS outlines are presented. This recommended practice is aimed at specifying(More)
"Lysosomal glycogen storage disease with normal acid maltase" which was originally described by Danon et al., is characterized clinically by cardiomyopathy, myopathy and variable mental retardation. The pathological hallmark of the disease is intracytoplasmic vacuoles containing autophagic material and glycogen in skeletal and cardiac muscle cells.(More)
The clinical manifestations of mitochondrial encephalomyopathy are described in four generations of a single kindred. The age of onset of major neurological disturbance varied from 3-70 years. In some patients, deafness was the only manifestation; in others, recurrent bouts of status epilepticus associated with focal neurological deficits and headache,(More)
The isometric Maximum Voluntary Contraction (MVC) of the right quadriceps femoris muscle was measured in 82 females and 58 males using a chair dynamometer and their mid-thigh quadriceps thickness was measured using real-time B-mode ultrasound. Statistically significant relationships (ranging from P < 0.001 to P < 0.0001) were found between quadriceps MVC,(More)
State III (activated) mitochondrial respiration rates with pyruvate/malate, glutamate/malate, and succinate as substrates were assayed in isolated intact skeletal muscle mitochondria in 29 subjects aged 16-92 years. There was a significant negative correlation between respiration rate and age with all substrates tested. A similar trend was seen for(More)
It has been suggested that cerebral vasculitis is the pathogenetic mechanism of the central nervous system manifestations of primary Sjögren's syndrome. We present a fatal case of aseptic meningoencephalitis in an 18-year-old woman with primary Sjögren's syndrome in whom there was no evidence of cerebral vasculitis at autopsy. On two occasions her condition(More)
BACKGROUND Several retrospective studies have suggested that immunotherapy, including prednisolone, azathioprine and thymectomy, reduces progression of ocular myasthenia gravis to generalized myasthenia gravis. This study examines the effect of immunotherapy on generalization rates in ocular myasthenia patients who are acetylcholine receptor (AChR)(More)
Age-associated changes in mitochondrial respiratory chain activity were investigated in human brain tissue collected at autopsy. Four brain regions, the frontal cortex, superior temporal cortex, cerebellum and putamen, were studied to map any regional variation. A significant decrease in cytochrome c oxidase activity was seen in all regions studied with(More)
OBJECTIVE To report a dominant, slowly progressive early onset distal myopathy with sparing of the tibialis anterior. METHODS Twelve affected and two possibly affected members from an Australian kindred were examined and investigated by EMG, imaging studies, histopathology, and genetic analysis. RESULTS Affected patients had a slowly progressive(More)
In familial amyotrophic lateral sclerosis (fALS), there is a need to establish more precisely the progression of the disease, particularly whether there is gradual presymptomatic neuronal loss or an abrupt loss coinciding with the symptomatic stage. To elucidate this, we investigated the progression of motor neuron loss through morphological techniques,(More)