Inclusion body myositis: morphological clues to correct diagnosis.

The aim of this study was to investigate variability of morphological changes found in patients with sporadic inclusion body myositis, to assess the diagnostic value of muscle biopsy. The study included all 43 definite inclusion body myositis patients (86 biopsies) diagnosed at Sahlgrenska University Hospital, Gothenburg, Sweden, between 1984 and 2000. Invasion of mononuclear inflammatory cells in non-necrotic muscle fibres was found in 72 of 86 specimens, while all investigated biopsies showed up-regulation of major histocompatibility complex class I. Cytochrome c oxidase-negative muscle fibres were demonstrated in 84 of 86 biopsies. Rimmed vacuoles were present in all specimens from the vastus lateralis and tibialis muscles, and in 43 of 51 biopsies from the deltoid muscle. In cases with clinical suspicion of inclusion body myositis, where the muscle biopsy does not show inflammatory cell infiltration and rimmed vacuoles, inclusion body myositis should still be considered if there are cytochrome c oxidase-negative fibres and up-regulation of major histocompatibility complex class I. In such cases repeat muscle biopsy may be helpful.

Motor neuron disease and dementia reported among 13 members of a single family.

All 49 members of four generations of a family were identified. In the first three generations eight members were afflicted with dementia, whereas in the fourth generation only one was demented but three of four were afflicted with motor neuron disease and they also had slight cognitive deficiencies. The pattern of heredity is compatible with dominant autosomal inheritance. Neuropsychological testing revealed affection mostly of the frontal lobes. A pedigree and six case reports are presented.

Muscular dystrophy in adults: a five-year follow-up.

The aim was to describe the natural history of adults with hereditary muscular dystrophies, including myotonic dystrophy, with respect to muscular function, ventilation and electrocardiogram. In a prospective study, 46 subjects were followed over a period of five years. In 1991 and 1996, their muscle function was assessed according to an observation scheme and their lung vital capacity was measured by spirometer. Electrocardiograms were obtained in 1991, 1993 and 1996. Deterioration of muscular function was seen with regard to both the functional muscle tests and the vital capacity. The proportion of pathological electrocardiograms increased from 38% in 1991 to 54% in 1996 in the 26 patients with myotonic dystrophy without an increase in clinically detected cardiac abnormalities. Timely examinations using standard methods can reveal medically important information on deterioration, which often passes clinically unnoticed because of the insidious progress of the diseases.

The expression of adhesion molecules in muscle biopsies: the LFA-1/VLA-4 ratio in polymyositis.

OBJECTIVES: The expression of three pairs of adhesion receptors and ligands was examined in 22 consecutive muscle biopsies showing morphological signs of inflammation. MATERIAL AND METHODS: The following groups were studied: patients with polymyositis (PM) (n=7), patients with myositis that did not fulfil criteria for PM, i.e. suspected PM (n=5), patients with other diseases, with no clinical signs of inflammatory myopathy (n=6), and a small group of non-PM inflammatory myopathies (n=4). The endothelial expression of ICAM-1, VCAM-1 and E-selectin was evaluated, as was the cellular expression of LFA-1, VLA-4 and SLex. In addition, the expression of MHC class I and II was studied. RESULTS: The ratio between the number of cells expressing LFA-1 and VLA-4 showed significant differences between the groups, with the lowest values in PM. CONCLUSION: The LFA-1/VLA-4 ratio should be suitable for diagnostic purposes. Our findings also indicate that the VLA-4/VCAM-1 system is important for chronic T cell inflammation in muscle, in line with findings in other "hidden" organs like joints and the central nervous system.

Effect of folic acid treatment in the fragile X syndrome.

The effect of folic acid intake on the frequency of fragile X positive cells and some behavioural characteristics were evaluated in 5 boys and 4 adult males with the fragile X syndrome. The expression of fragile X was nullified in 6 and decreased in 3 of the 9 patients. Behavioural and motor ability were considered to have improved in 4 of the 5 boys but not in the 4 adults with fragile X syndrome.