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Biomedical subjects

J B Familusi

Publications and source records attributed to J B Familusi.

At least 55 records · Page 3Linked to original sources

Blood phenylalanine levels in mentally retarded African children: a study of 138 patients from Ibadan, Nigeria.

Blood phenylalanine levels were determined by the Guthrie microbiological inhibition technique in 138 mentally retarded, and in 88 randomly selected normal (control) Nigerian children. All the control subjects and 137 of the 138 mentally retarded children had negative Guthrie tests (6 mg/100 ml or less). In a majority of the children, the blood phenylalanine levels were 2 mg/100 ml or less. One mentally retarded child had moderately elevated blood phenylalanine level which was however much lower than the levels associated with classical phenylketonuria. The findings in the present study is in agreement with previously reported rarity of phenylketonuria in American negroes. An extensive survey of tropical Africa for phenylketonuria is, however, still desirable because regional and ethnic differences in the incidence of the disease may exist.

Black People↗

Herediatary anhidrotic ectodermal dysplasia. Studies in a Nigerian famil.

Studies in a Nigerian family with hereditary anhidrous ectodermal dysplasia are reported. Microscopical examinations of finger tips for sweat pores were diagnostic in phenotypes, and it is suggested that this simple nonsurgical procedure is a preferred alternative to skin biopsies in the diagnosis of the syndrome. The clinical implications of a tropical environment for the syndrome, as well as the factors that may favour maintenance of the gene in such an environment are discussed.

Anodontia↗

Burkitt's lymphoma presenting as acute leukaemia.

A Nigerian male child presented with extensive superficial lymphadenopathy, a bleeding diathesis, and numerous tumour cells in blood and bone marrow. Further characterization of the tumour cells confirmed the diagnosis of Burkitt's lymphoma. The main unusual features shown by this patient are discussed.

Acute Disease↗

Stevens-Johnson syndrome following anticonvulsant therapy in penetrating head injury.

Five cases of Stevens-Johnson syndrome are described in patients with penetrating head wounds who were treated with Penicillin, streptomycin, sulphadiazine and the anticonvulsant drugs, epanutin and phenobarbitone. One patient who continued to have only his anticonvulsants after the appearance of his skin eruption, died. In two other cases, epanutin and phenobarbiton each was responsible for the Stevens-Johnson syndrome.

Adult↗

Preliminary Nigerian experience in the use of carbamazepine in children with intractable seizures.

There is insufficient clinical information about carbamazepine and other newer anticonvulsants from tropical African countries because high costs and limited availability have restricted the use of these drugs in the economically underdeveloped countries. The present communication reports the observed effects of carbamazepine in nine Nigerian children whose epileptic seizures had been intractable to various combinations of previously available anticonvulsants. In seven of these children, intractable seizures were associated with moderate to severe cognitive deficits and behavioral disturbances. Following institution of carbamazepine therapy, complete seizure control was achieved in four children, and significant reduction in seizure frequency occurred in another four. In three children complete seizure control was maintained with carbamazepine alone after withdrawal of all other medications. Among the seven children with cognitive and behavioral problems, improved seizure control was accompanied by significant psychotropic gains. No serious side effects occurred in any of the children during follow-up periods ranging from 2 to 7 years. Because of the favorable anticonvulsant and psychotropic efficacy of carbamazepine in the present study, coupled with the lack of serious side effects, it is recommended that the drug deserves wider use in African children with seizure disorders.

Carbamazepine↗