Biomedical subjects
R A Brumback
Publications and source records attributed to R A Brumback.
Primary primitive neuroectodermal tumor of the leptomeninges.
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Nonverbal learning disabilities, Asperger's syndrome, pervasive developmental disorder--should we care?
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Adult-onset mitochondrial myopathy coexistent with lumbar disc disease. A case report.
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Spectrum of vascular pathology affecting patients with the antiphospholipid syndrome.
A thrombotic microangiopathy that is identified in patients with the antiphospholipid syndrome (APS) represents only a part of the vascular pathology that can be associated with antiphospholipid antibodies (aPL). Tissues from two autopsies, four renal biopsies, two skin biopsies, and one amputated leg were obtained from six patients who met criteria for the diagnosis of APS. Three patients had systemic lupus erythematosus (SLE), one had lupus-like disease, and two had a primary APS. Five of the patients were hypertensive. Arteries of three patients disclosed fibrin thrombi along with widespread obstruction by recanalized intimal connective tissue. Small renal, leptomeningeal, and pulmonary arteries showed concentric cellular and fibrous intimal hyperplasia indistinguishable from hypertensive vascular disease. Glomerular capillary and afferent arteriolar thrombi were found in renal biopsies from two SLE patients. One of these SLE patients required a leg amputation in which the popliteal artery demonstrated thrombosis, intimal hyperplasia, and acute inflammation. The findings support clinical and experimental data that indicate aPLs cause thrombosis but suggest diversity in the pathogenetic mechanisms aPLs are capable of promoting. Inflammation seems to be rare and to accompany thrombosis. Intimal hyperplasia is particularly common. Its involvement of renal arteries may contribute to hypertension that develops in some APS patients.
Rhabdomyolysis following electrical injury.
Severe electrical injury is often associated with acute rhabdomyolysis, evident from massively elevated serum creatine (CK) levels, along with presence of other muscle fiber constituents in the serum and urine, resulting specifically in hyperkalemia, hyperphosphatemia, and myoglobinuria. The acute medical care of the patient with electrical injury must include addressing supportive therapy for the rhabdomyolysis (more fully reviewed in other articles in this issue of Seminars), but understanding the underlying pathophysiology of rhabdomyolysis may allow for the future development of improved therapeutic modalities.
Spinal subarachnoid mass and polyradiculoneuropathy due to cytomegalovirus in a patient with AIDS.
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Medulloblastoma in an 11-month-old girl.
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Junk science--is peer review the answer?
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Glioneurocytoma: tumor with glial and neuronal differentiation.
We report two cases of low-grade glioma in which multiple cellular components, including cells with dense-core granules consistent with "neurocytes," were identified on electron microscopic studies. The first patient was an apparently normal boy until the onset of seizures at age 10 months. Initially, the seizures improved with phenobarbital treatment, but good seizure control was never achieved. Computed tomographic scan at age 23 months showed a calcified, nonenhancing left parietal mass. This tumor was composed of sheets of cells with clear cytoplasm and round to oval nuclei. Mucinous intercellular material stained positively with periodic acid-Schiff, mucicarmine, and alcian blue stains. Foci of calcification were evident. The second patient was a 13-year-old boy with a left parasagittal parieto-occipital mass who presented with a 4-month history of seizures and declining school performance. The tumor was composed of sheets of astrocytes with dark, hyperchromatic, pleomorphic nuclei in a fibrillary and microcystic background. The tumor contained the pleomorphism seen in the adult variant of pilocytic astrocytoma, as well as the microcystic component seen in the juvenile variety. Ultrastructurally in both cases, there were occasional tumor cells having round to oval nuclei with moderate amounts of cytoplasm containing 150- to 250-nm-diameter dense-core granules. These cells were admixed with the majority of tumor cells, which in case 1 had the ultrastructural features of astrocytes and oligodendrocytes and in case 2 had features of protoplasmic or pilocytic astrocytes.(ABSTRACT TRUNCATED AT 250 WORDS)
Medulloblastoma in an 8-year-old boy.
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Special supplement on learning disabilities--why?
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Use of the Symbol Language and Communication Battery in the physician's office for assessment of higher brain functions.
Higher brain functions are readily observable within the office setting. The Symbol Language and Communication Battery offers a systematic approach to evaluation, with resultant reproducible findings. It should be part of the neurologic evaluation for children who are having difficulty in their environments, with the differences in communication skills categorized into specific syndromes.
Neuroanatomic substrate of developmental specific learning disabilities and select behavioral syndromes.
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Hyaline body myopathy.
Muscle biopsy from two unrelated patients, a male aged 40 and a female aged 3, with relatively non-progressive limb weakness since infancy, revealed numerous subsarcolemmal glassy, hyaline appearing bodies present in 20-30% of the fibres. Type 1 fibre predominance was present, and the hyaline bodies were exclusive to type 1 fibres. The hyaline bodies were negative with oxidative enzyme and periodic acid-Schiff stains. Electron microscopy showed the hyaline bodies to contain amorphous granular material of unknown composition. No membrane separated the hyaline bodies from the surrounding sarcoplasm. Hyaline body myopathy most likely represents a distinct congenital myopathy because of its childhoot-onset, non-progressive course, and distinct morphological features.
Alzheimer's disease: pathophysiology and the hope for therapy.
The approximately 4.5 million Alzheimer's disease victims in the United States represent a major public health problem resulting in annual expense topping $100 billion, with the Oklahoma share being about $500 million. This problem will be even larger as the baby boomer generation reaches the ages of maximum prevalence of Alzheimer's disease. Research has provided only meager insights into this devastating disease, but has permitted some rational hypotheses concerning potential treatment. Still, the definitive diagnosis of Alzheimer's disease requires pathologic confirmation. In interviews with families following the autopsy, it is apparent that the disease is poorly understood by both the family members and many of the health care workers with which they have dealt. Thus, this review (based upon the questions raised by families and their physicians) examines the currently understood mechanisms and pathogenesis of Alzheimer's disease, the hereditary patterns, and the hope for therapy.
Midline cerebral dysgenesis, dysfunction of the hypothalamic-pituitary axis, and fetal alcohol effects.
OBJECTIVE: Neuropathologic evaluation was performed on an infant with fetal alcohol effects. DESIGN: Coronal brain sections and representative tissue blocks stained with hematoxylin-eosin, silver stain, and immunocytochemical stains for hypothalamic and pituitary hormones were evaluated for neuropathologic abnormalities. PATIENT: A 2.5-month-old American Indian girl who had been exposed to first-trimester maternal binge alcohol abuse died after persistent problems of growth failure, sodium imbalance, aberrant temperature regulation, respiratory distress, and seizures. RESULTS: Autopsy revealed severe microcephaly, hypertelorism, midfacial hypoplasia, a high-arched palate, shortened palpebral fissures, and a small brain. The frontal lobes were fused anteriorly; olfactory bulbs and tracts were absent; and optic nerves were hypoplastic. An enlarged and bulbous hypothalamus obscured the pituitary gland. The thalamus and caudate nuclei were fused across the midline. Posteriorly, the single ventricle split to form rudimentary lateral horns. The anterior corpus callosum, septum pellucidum, fimbria, and fornices could not be identified. The anterior commissure and supraoptic nuclei were microscopically present. Many Purkinje cells were horizontally positioned, with abnormal dendritic structure. The posterior pituitary lobe was absent, and the infundibulum was flanked by a hypoplastic adenohypophysis and a large subarachnoid heterotopia. Immunocytochemical studies identified only vasopressin and neurophysin in the hypothalamus and only growth hormone and prolactin in the pituitary gland. CONCLUSION: To our knowledge, an association between fetal alcohol effects and a complex cerebral anomaly with features of incomplete holoprosencephaly and septo-optic dysplasia has not previously been reported and suggests a possible common pathogenesis needing further study.
Clinically asymptomatic xeroderma pigmentosum neurological disease in an adult: evidence for a neurodegeneration in later life caused by defective DNA repair.
Xeroderma pigmentosum is a genetically heterogeneous disease caused by DNA repair defects resulting in skin cancer and, in some patients, a primary neuronal degeneration which has in all previous reports become symptomatic prior to age 21 years. A 47-year-old xeroderma pigmentosum patient is described who, although neurologically asymptomatic, has sensorineural hearing loss together with clinical signs and electrophysiologic evidence of a developing peripheral neuropathy. This case suggests that defective DNA repair may cause neurodegeneration in adults as well as in children.