Neurology
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Cavernous angiomas are well-circumscribed cerebrovascular malformations whose natural history is poorly understood. We reviewed 5,000 cranial MRI reports of studies performed between 1986 and 1993 and retrospectively evaluated the histories and imaging studies of 29 patients whose lesions were suggestive of cavernous angiomas. Patients ranged from 3 to 66 years and 27 were of Hispanic origin. ⋯ It is possible that patients may not be born with MRI-identifiable malformations, but with advancing age the malformations become MRI-visible through malformation growth, hemorrhage, or both. The declining size by decade favors hemorrhage rather than growth. Cavernous angiomas may be more benign than previously thought.
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The 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) in the skeletal muscle has been shown to be deficient in patients with severe childhood autosomal recessive muscular dystrophy prevalent in North Africa. To elucidate the frequency of patients having the 50DAG deficiency in a muscular dystrophy population in Japan, we immunocytochemically examined 50DAG, 43DAG, dystrophin, and utrophin. ⋯ We identified five unrelated patients (three females and two males who have no family history) with 50DAG deficiency in the sarcolemma. Thus, 2.1% (5/243) of our muscular dystrophy patient population had 50DAG deficiency.