Tubular aggregates in murine dystrophy heterozygotes.

Heterozygous dystrophic mice (strain 129 ReJ dy/+) were studied to determine the morphological changes that are characteristic of the heterozygote state. The morphology of the muscle in 35 heterozygotes (+/?) was compared with that of 35 homozygotes (dy/dy) and 20 normal controls (+/+). Muscle was examined with light microscopy, standard histochemical techniques, and electron microscopy.

The fragility of cerebral lysosomes in multiple sclerosis.

The possibility that cerebral lysosomes in the white matter from patients with multiple sclerosis (MS) are more fragile than in normal controls was investigated in tissue obtained at necropsy. In the MS cases no differences were found in results from samples obtained from histologically distinct areas of white matter, i.e.

The cellular origin of lysosomal enzymes in the plaque in multiple sclerosis. II. A histochemical study with combined demonstration of myelin and acid phosphatase.

Existing techniques have been adapted and it has been possible to demonstrate acid phosphatase (APP) and myelin, lipid or astrocytic fibres in the same histological section. In normal controls APP was demonstrated in neurons, astrocytes, ependyma including choroid plexus epithelium and in pericytes, but not in oligodendrocytes. In multiple sclerosis (MS), APP positive cells were found in the plaque, plaque edge and macroscopically normal white matter.

Systemic lupus erythematosus clinically resembling multiple sclerosis and with unusual pathological and ultrastructural features.

A case of systemic lupus erythematosus is described which clinically resembled multiple sclerosis and in which the lesions were restricted to the central nervous system. The necropsy findings of vascular thickening and necrosis in the spinal cord and in a posterior nerve root explain the main clinical abnormalities. Clinical signs of the terminal peritonitis secondary to cholecystitis were absent or minimised probably because of the steroid therapy and spinal cord necrosis.

Progressive visual failure in acromegaly following external pituitary irradiation.

Four out of twenty-three acromegalic patients selected for treatment with external megavoltage pituitary irradiation between 1961 and 1975 developed progressive visual failure. They had received megavoltage external irradiation through multiple portals from a cobalt-60 unit over a period of 3 weeks. Visual deterioration began 2 months to 6 years after irradiation.

A histological, histochemical and biochemical study of the macroscopically normal white matter in multiple sclerosis.

In a combined histological, biochemical and histochemical study of the macroscopically normal white matter in multipe sclerosis 72% of samples were histologically abnormal. The significance of this fact in the interpretation of previous biochemical studies and in the design of future studies is discussed. The present study showed a significant elevation of the lysosomal enzyme beta-glucosaminidase in the microscopically normal white matter in MS as compared with controls.

The cellular origin of lysosomal enzymes in the plaque in multiple sclerosis: a combined histological and biochemical study.

Using a combined biochemical and histological approach certain conclusions can be drawn as to the origin of the increase in lysosomal enzymes in white matter from MS brains. Firstly, there is a gradient of lysosomal enzyme activity, plaque greater than periplaque greater than macroscopically normal white matter, which appears to be independent of the stage of evolution of the plaque. The most consistent change in cellular composition within and around all plaques is a marked astrocytosis.

General disease in 120 necropsy-proven cases of multiple sclerosis.

The general pathology in 120 necropsy-proven cases of multiple sclerosis has been compared with that of matched neurological and general controls. There was no significant difference in the incidence of coronary thrombosis, myocardial infarction, cerebral haemorrhage, thyroid atrophy and splenic haemosiderosis. There was also no significant difference in malignancy in the three groups.

Clinicopathological study of Refsum's disease with particular reference to fatal complications.

The clinical and pathological findings in two brothers with biochemically diagnosed Refsum's disease are given. The pathology, in general, was that already described in this condition. An unusual complication in one case was the development of renal failure.

LDH isoenzyme pattern in a meningioma with pulmonary metastases.

The case is presented of an intraspinal meningioma in a 14-yr-old female. After surgical exploration pulmonary metastases became apparent. At necropsy the tumour had increased proportions of the cathodal isoenzymes LDH-4 and 5.

Carotid artery thrombosis, encephalitis, myelitis and optic neuritis associated with rubella virus infections.

The clinical, virological and pathological findings in 5 patients with neurological complications associated with rubella virus infection are described. The neurological illnesses began four to ten days after the rubella illnesses. The patients were all males aged between 6 and 17 years and were diagnosed during one non-epidemic year in a population of 1-5 million people.

Translocation 4p-- syndrome: a general review.

The casee presented here may be the first fully identified and verified cas of translocation 4p-- syndrome, a B4/G22 translocation, ie, 45,XX,-4,-22,+t(4q 22q). Thirty-nine other cases of the 4p--syndrome, including one other possible translocation case, have been found in the medical literature. Conventional chromosome studies cannot distinguish between 4p-- (Wolf) syndrome and 5p-- (cri-du-chat) syndrome, and the clinical features, as in our case, may not be sufficiently characteristic to permit differentiation.