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Muscle diseases are an expanding field, mainly due to the progress in genetics and biochemistry. Evaluation starts with a thorough history of the patient's symptoms and signs. The leading clinical manifestations are weakness, atrophy, myalgia, fatigue, more rarely myotonia and in the child hypotonia or walking difficulty. A detailed family history might give clues to an underlying genetic etiology. Diagnostic workup begins with the measurement of serum creatine kinase. Electroneuromyography is an important investigation procedure which includes motor and sensory nerve conduction studies and concentric needle electromyography. Muscle biopsy is performed in all patients with clinical evidence of myopathy. A fine-needle technique is generally used, more often than a surgical biopsy. Molecular analysis of candidate genes is becoming a major diagnostic tool in many muscle disorders. Muscle imaging, in particular MR, provides diagnostic and follow-up information, especially in dystrophic, metabolic and inflammatory myopathies. Exercise testing can be useful in some metabolic myopathies. There is no standard protocol for the choice and course of investigations which must always be based on a detailed clinical evaluation. It is important to establish a precise diagnosis in order to inform the patient about the nature and the evolution of the disease, the therapeutic options and to propose, when indicated, genetic counseling.

PURPOSE: Study of early hystological lesions after experimental branch venous occlusion (BVO) in miniature pigs. MATERIALS AND METHODS: The retina was taken 1, 2, 4, 6 and 8 hours after BVO with green argon laser for examination with conventional and electronic microscopy. RESULTS: 1 hour after occlusion an extracellular focal oedema is observable in the ganglion cells optic nerve fibers and cells of inner plexiform layer; 2 hours after occlusion there is also an extracellular oedema of the external plexiform layer as intracellular oedema of the inner nuclear layer, 4 hours after occlusion the extracellular oedema is more diffuse especially in the ganglion cells, inner nuclear and optic nerve fibers layers. Cytoplasmic vacuolisation, nuclear pycnosis and ruptured cell membrane layers are observed; 8 hours after occlusion both intra and extracellular oedema are observable throughout the inner retina. CONCLUSIONS: After BVO histological lesions are found within one hour only following the occlusion, apoptosis and cell necrosis are present as soon as 4 hours after experimental BVO. Klin Monbl Augenheilkd

PURPOSE: We present hereby some results indicating that there is a significant decrease in the release of NO by the retina immediately after branch-venous occlusion (BVO). METHODS: Using an NO microprobe we measured (NO) in the preretinal vitreous of miniature pigs before and two hours aRer bvo. Conventional and electronic microscopy were performed on the affected retina. RESULTS: At the retinal surface (NO) was reduced to 25% of the previous value two hours after BVO, at the same time significative oedema of the inner retina was observed. CONCLUSIONS: Immediately after BVO there is a significative decrease in the amount of NO released by the affected retina, parallel to the first evidences of an oedema of the inner retinal layers. Klin Monbl Augenheilkd