Biomedical subjects

V H Tobias

Publications and source records attributed to V H Tobias.

3 recordsLinked to original sources

PubMed1992

Report on the X-linked lymphoproliferative disease in an Australian family.

X-linked lymphoproliferative disease is characterized by immune deficiency, particularly to the Epstein-Barr virus and by a tendency to develop fatal infectious mononucleosis, acquired hypogammaglobulinaemia or malignant lymphoma. This disorder has been diagnosed in three boys, two brothers and a maternally related cousin, residing in Australia. The proband presented at 6 years of age with fulminating infectious mononucleosis. His 9 year old male cousin had developed an ileal Burkitt lymphoma one year earlier. Immunological and molecular genetic evidence is presented to support our view that his younger sibling is also affected with this condition. DNA linkage studies using probes to DXS10 and DXS37 provide confirmatory evidence for the diagnosis in the proband's brother and information on carrier status in female family members.

Agammaglobulinemia↗

PubMed1989

Selective epilepsy surgery in tuberous sclerosis.

A patient with tuberous sclerosis diagnosed at the age of 5 years developed an intractable seizure disorder characterized by complex partial seizures numbering 10-20/day. Interictal electroencephalograms (EEG) showed a right frontal epileptogenic focus. A computerized tomography scan demonstrated calcification in the right frontal region at two sites, periventricular calcification and multiple low density lesions. Neuropsychological assessment showed a verbal intelligence quotient (IQ) of 69 and a performance IQ of 88. Telemetry and video monitoring recorded 10 seizures during which the EEG showed flattening of ongoing sharp wave activity in the right frontal region. Electrocorticography further identified and localized epileptogenic tissue in the right frontal cortex and surgical removal of involved tissue and the adjacent two tubers was carried out. Twelve months after surgery the patient has had only two brief seizures.

Child, Preschool↗

PubMed1989

Glomerulonephritis, pulmonary hemorrhage and anemia associated with Campylobacter jejuni infection.

A 5-year-old girl suffered Campylobacter jejuni enteritis. Over the ensuing weeks she developed glomerulonephritis, pulmonary hemorrhage and anemia. Renal biopsy revealed immune-complex mediated, crescentic glomerulonephritis. Campylobacter jejuni antigen was identified in the glomeruli suggesting a causal role of Campylobacter jejuni in the disease process.

Anemia↗