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Biomedical subjects

S Serra

Publications and source records attributed to S Serra.

78 records · Page 5Linked to original sources

A decrease in guanylate cyclase activity in some tissues of C3H/HeJ mice with retinal dystrophy.

Guanylate cyclase activity was assayed in homogenates, in particulate and soluble fractions from retina, cerebellum, cerebral cortex and adrenal gland of adult C3H/HeJ mice with a dystrophic retinopathy. In comparison to control mice (DBA/1J), in C3H/HeJ strain a significant decrease in guanylate cyclase activity occurred in homogenates from retina, cerebellum and adrenal gland. In particular a significant decrease was found in particulate fraction of retina, in the soluble fraction of cerebral cortex and cerebellum and in both fractions of the adrenal gland. In contrast to the retina and cerebellum where guanylate cyclase activity in homogenates was found significantly decreased both in the male and female, in the cerebral cortex guanylate cyclase decreased in both sexes although in female this was more marked.

Adrenal Glands↗

[Cardiac involvement in familial amytrophic chorea with acantocytosis: description of two new clinical cases].

Familial amyotrophic chorea and acanthocytosis, also known as the Levine-Critchley syndrome, is a rare inherited disease characterized primarily by central nervous system involvement with progressive demyelinization and autosomic or dominant transmission. Clinical symptoms include orofaciolingual dyskinesia and involuntary choreiform movements associated with skeletal muscle atrophy due to axonal demyelinization and erythrocyte acanthocytosis. A few patients have some cardiac abnormality, including an electrocardiographic pattern of left ventricular hypertrophy, left atrial wave abnormalities, non-specific ST-T wave changes, and a pseudonecrosis pattern with abnormal Q waves in the inferior leads. Two-dimensional echocardiography has disclosed concentric ventricular hypertrophy and the typical findings of congestive cardiomyopathy. We report the case of two brothers, 40 and 58 years old, who had asymmetric left ventricular hypertrophy (more marked in the younger brother), left ventricular mass index increase unrelated to a hypertensive state or the percent of circulating acanthocytes. Functional systolic parameters were normal. The younger brother had dilation of the aortic root and marked enlargement of the non-coronary Valsalva sinus, and both patients manifested mitral leaflet redundancy without evident prolapse. Our observations suggest the hypothesis that connective tissue and/or vessel muscle-elastic fiber pathology is associated with the well-known neurological disorders typical of the Levine-Critchley syndrome. It is thus advisable that these patients undergo thorough cardiovascular evaluation.

Acanthocytes↗