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Biomedical subjects

R A Brumback

Publications and source records attributed to R A Brumback.

At least 109 records · Page 6Linked to original sources

Wechsler performance IQ deficit in depressed children.

The original analysis of data on 100 consecutive school age children referred for evaluation of school difficulties showed no differences in IQ among the children with depression and those without depression. Reanalysis of those data shows that a significant number of the depressed children (but not the nondepressed children) have a 15-IQ point Wechsler Performance IQ deficit. This supports the contention that a major subgroup of depressed individuals have right cerebral-hemisphere dysfunction.

Cerebral Cortex↗

Leiomyomatosis peritonealis disseminata.

Leiomyomatosis peritonealis disseminata is a rare benign disorder in females characterized by multiple smooth muscle tumor nodules throughout the peritoneal cavity. All of the reported cases have been in menstrual-age women; some of whom have been pregnant or taking oral contraceptives. We report a postmenopausal woman who had symptoms related to bowel-wall involvement in two episodes 12 years apart.

Female↗

Unique finding of prostatic tissue in a benign cystic ovarian teratoma.

Benign cystic ovarian teratomas are neoplasms with a 46,XX karyotype originating from a single abnormal ovarian germ cell after the first meiotic division. Since these tumors lack the Y chromosome (required for production of the H-Y antigen that is presumably obligatory for embryonic male sexual differentiation), identifiable male sex organ structures should not be found in the tumor. We report a case in which prostatic tissue was identified in a benign cystic ovarian teratoma.

Adolescent↗

Cockayne syndrome: clinicopathologic and tissue culture studies of affected siblings.

Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, microcephaly, peripheral neuropathy, and spastic quadriplegia. In order to study the inherited DNA-repair defect known to be present in cultured CS cells, a lymphoblastoid line was established from the younger sibling. Tissue culture studies revealed the line to have a hypersensitivity to the lethal effects of 254-nm ultraviolet radiation (UV) equivalent to that of lymphoblastoid lines from CS patients who had either the usual severity or a very mild form of CS. Autopsy of the older sibling at six years of age showed the brain to be severely atrophic, with particularly severe cerebellar atrophy. There was a marked reduction in the number of granule cells in the cerebellum and irregular patchy myelination throughout the brain. Many astrocytes contained either a large, bizarre-shaped nucleus or multiple nuclei. Some Purkinje cells of the cerebellum and pyramidal neurons of the hippocampus were binucleated. It is suggested that the DNA-repair defect of CS causes abnormalities in nuclear DNA replication and cell division which result in cell death and in the observed nuclear abnormalities.

Brain↗

Adenocarcinoma of the stomach following irradiation and chemotherapy for lymphoma in young patients.

Gastric adenocarcinoma developed in two young patients following successful radiation therapy and chemotherapy for malignant lymphoma in childhood. The age of presentation with gastric cancer, 14 years and 24 years, respectively, is so strikingly different from that expected as to suggest a causal relationship. Gastric adenocarcinoma may be another complication of the "successful" aggressive management of malignant tumors in young people.

Adenocarcinoma↗

Hypersensitivity to DNA-damaging agents in cultured cells from patients with Usher's syndrome and Duchenne muscular dystrophy.

Lymphoblastoid lines from nine Usher's syndrome (recessively inherited retinitis pigmentosa and congenital sensorineural deafness) patients (representing eight kindreds) and from ten Duchenne muscular dystrophy patients (representing seven kindreds) showed a small but statistically significant hypersensitivity to the lethal effects of X-rays, as measured by the cellular ability to exclude the vital dye trypan blue, when compared with lines from 26 normal control subjects. Fibroblast lines from the Usher's syndrome patients, treated with X-rays or the radiomimetic, DNA-damaging chemical N-methyl-N'-nitro-N-nitrosoguanidine, also showed a statistically significant hypersensitivity when compared to normal fibroblast lines. These findings are consistent with the possibility that defective DNA repair mechanisms may be involved in the pathogenesis of these degenerative diseases.

Adolescent↗

Myopathy in acromegaly. A case study.

The muscle findings in a patient with acromegaly of 20 years duration are presented. The patient demonstrated mild muscular weakness and atrophy. Standard needle electromyography was normal and single fiber electromyography showed normal motor unit densities. Muscle biopsy revealed normal size type-I muscle fibers, but three populations of type-II fibers - hypertrophied, atrophied, and normal-sized fibers. Hypertrophy of type-II fibers may be the direct result of the excess growth hormone, while the atrophic fibers may result from the disturbance of other endocrine function.

Acromegaly↗