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Biomedical subjects

A Taratuto

Publications and source records attributed to A Taratuto.

9 recordsLinked to original sources
PubMed1999

Tuberous sclerosis associated with MDR1 gene expression and drug-resistant epilepsy.

Intractable seizures are the most common manifestation in severe cases of tuberous sclerosis. Multidrug resistance type 1 (MDR1) gene expression is directly linked to the resistance of tumor cells to chemotherapy as the major cause of treatment failure, but it has not been reported in tuberous sclerosis cells nor has the relationship between the MDR1 gene and antiepileptic drugs been described. A 4-month-old female is described with poorly controlled seizures secondary to tuberous sclerosis. The patient was treated with antiepileptic drugs, including phenytoin, phenobarbital, and lorazepam, without improvement of symptoms. Phenytoin blood levels were invariably subtherapeutic and ranged from 0.45 to 3.55 microg/mL, despite several consecutive intravenous loading doses. Surgical treatment with total resection of the brain lesions was performed as a last resort. Immunohistochemical analysis of the resected tissues revealed high levels of P-glycoprotein 170 expression, the product of the MDR1 gene. Both MDR1 gene expression and persistently low phenytoin levels likely share a common pathway liable to induce drug-resistant epilepsy.

ATP Binding Cassette Transporter, Subfamily B, Mem↗
PubMed1991

Krabbe disease in monozygotic triplets.

The authors report an extremely rare case of monozygotic triplets with globoid cell leukodystrophy (Krabbe disease). Born to healthy, non-related, heterozygous parents, all three girls presented with typical signs of beta-galactocerebrosidase deficiency before one year of age and died within the first 41 months of life. The literature is briefly reviewed.

Biopsy↗
PubMed1978

Histological and histochemical changes of the skeletal muscle in human chronic Chagas' disease.

Gastrocnemius muscle biopsies were performed in 7 subjects with chronic Chagas' disease. On clinical and laboratory grounds the selected patients were judged to be healthy, being the only abnormality found the presence of positive serum tests for Chagas' disease. Fibre type grouping of either type I or type II was observed in 5 of the 7 patients. Furthermore, in 2 of the 5 patients showing muscle fibre groupings, angular fibres reacting with NADH and non-specific sterase were also found. These observations strongly suggest denervation associated with reinervation. This picture often can be observed in the skeletal muscle of patients with well compensated denervatory conditions who did not show clinical evidences of denervation.

Adult↗