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Biomedical subjects

R A Brumback

Publications and source records attributed to R A Brumback.

At least 55 records · Page 3Linked to original sources
PubMed1993

Thrombotic cerebral arteriopathy in patients with the antiphospholipid syndrome.

OBJECTIVE: A distinctive type of chronic cerebral vasculopathy was identified in the small leptomeningeal arteries of patients with high levels of serum antiphospholipid antibodies. This study characterizes the vascular lesions and investigates their pathogenesis. DESIGN: A comparative study of cerebrovascular disease in patients dying of systemic lupus erythematosus (SLE) and the antiphospholipid syndrome. PATIENTS: Cerebrovascular disease observed in autopsies on a patient with primary antiphospholipid syndrome and a patient with SLE and antiphospholipid syndrome was compared with findings on two SLE patients who did not have serum antiphospholipid antibodies and with findings on 15 patients having diseases in which pathological changes of meningeal arteries might be anticipated or are known to occur (six patients with hypertensive cerebrovascular disease, one patient with thrombotic thrombocytopenic purpura, seven patients with marantic or bacterial endocarditis, and one patient with a left ventricular mural thrombus). Multiple blocks of brain tissue were studied by serial histologic sections and histochemical and immunohistochemical methods. Immunofluorescent and electron microscopic (EM) studies were performed on kidneys and EM studies on brain and choroid plexus in each case of antiphospholipid syndrome. RESULTS: Leptomeningeal arteries of antiphospholipid syndrome patients disclosed fibrin thrombi and widespread obstruction by a proliferation of intimal fibrous tissue or myointimal cells. The fibrous and cellular segments of obstructed arteries frequently contained fibrin thrombi and displayed varying stages of recanalization. In late stages of organization, fibrous webs were formed across arterial lumens. Obstructed arteries were traced to small infarcts localized to an underlying column of cortical gray matter. None of the tissues from antiphospholipid syndrome patients showed evidence of an active or healed inflammatory vasculitis or of vascular immune complex deposits. Recanalized thrombi, fibrous and cellular occlusions, and fibrous webs were not found in the leptomeningeal arteries of patients who did not have the antiphospholipid syndrome. CONCLUSIONS: The cerebrovascular changes of the antiphospholipid syndrome are derived from a chronic thrombotic microangiopathy. The findings support the hypothesis that antiphospholipid antibodies can cause recurring episodes of intravascular thrombosis.

Adult↗
PubMed1993

Is depression a neurologic disease?

There is now ample evidence that depression produces observable changes in a variety of brain systems that should be of interest to investigators and clinicians in neurology. Thus neurologists should take the lead in providing comprehensive assessment of the clinical, neurophysiologic, neuropsychologic, neuropharmacologic, neurochemical, neuroimaging, and neuropathologic changes occurring in depression. In addition, because depression is a treatable condition, clinicians should make every attempt to identify the disorder and institute appropriate therapy to maximize neurologic benefit for the patient.

Central Nervous System Diseases↗
PubMed1992

Rhabdomyolysis in childhood. A primer on normal muscle function and selected metabolic myopathies characterized by disordered energy production.

Patients with rhabdomyolysis present an important clinical problem. In acute episodes immediate treatment may be necessary to prevent significant morbidity and mortality. Evaluation of affected patients necessitates an understanding of basic muscle pathophysiology and of the variety of disturbances that can interfere with muscle energy metabolism. The physician must then pursue a systematic stepwise evaluation (Table 6) that includes obtaining relevant history and laboratory studies, as well as arranging for appropriate provocative testing and muscle biopsy. Once the diagnosis is established, patient and family counseling is necessary, particularly in genetic disorders. Unfortunately, specific therapies have not proven entirely successful, and treatment generally has been directed at reducing the severity of rhabdomyolytic episodes.

Child↗
PubMed1992

A modified Da Fano silver stain for demonstration of neurons and dendrites in glycol methacrylate-embedded brain tissue.

Golgi impregnation techniques are commonly used for characterization of neurons and their dendritic and axonal processes. Most of the widely used techniques require processing of fresh brain tissues, which limits the amount of material available for study. Additionally, the stained blocks must be subsequently embedded in paraffin, which produces considerable cellular shrinkage and distortion artifacts. Modification by one investigator of an early silver impregnation technique, designed to demonstrate the Golgi apparatus, allowed demonstration of neurons and their dendritic processes. Our further modification of the later technique, along with embedding of the stained tissue in glycol methacrylate, permits detailed examination of neurons and their processes in formaldehyde-fixed neonatal human brains. In cerebellar sections, this modified technique impregnates nearly all Purkinje cells, elucidating the fine structural detail of the developing neuronal dendritic tree and spines.

Brain↗
PubMed1992

Electrodiagnosis of compressive nerve lesions.

Electrodiagnostic studies provide valuable information that can be a useful adjunct to careful clinical evaluation in the diagnosis of compression neuropathy. Such studies can also help to predict the outcome of treatment and differentiate nerve injuries amenable to successful surgical intervention.

Electrodiagnosis↗
PubMed1991

Cerebral abnormalities in thanatophoric dysplasia.

Neuropathologic evaluation of two infants with thanatophoric dysplasia displayed typical gross morphologic characteristics and a distinct pattern of brain malformations, including anomalies of the temporal lobe gyri and hippocampus, neuroglial heterotopias, fiber tract hypoplasia, and dysplasia of deep nuclei. Increased numbers of horizontal cells of Cajal-Retzius were striking in frequency and distribution. The pattern of abnormalities suggests arrest of cerebral cortical ontogeny late in development. As with the mucopolysaccharidoses, a shared common metabolic pathway is a potential mechanism for development of widespread bony and somatic abnormalities and associated central nervous system anomalies.

Brain↗
PubMed1991

An adult-onset myopathy characterized by a double ring appearance of muscle fibers.

We report a 33-yr-old man with an unusual neuromuscular disorder characterized by progressive generalized weakness of 3 yr duration whose muscle biopsy showed a double ring appearance in most muscle fibers. This double ring appearance was due to a peripheral outer sarcoplasmic mass and an inner ring of annular myofibrils surrounding a core of normal longitudinally oriented myofibrils. Nerve conduction studies were normal. Electromyography showed fibrillations, positive waves, and increased brief duration, low amplitude, polyphasic potentials.

Adult↗
PubMed1991

Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form.

Xeroderma pigmentosum (XP) is an autosomal recessive, neurocutaneous disorder characterized by sunlight-induced skin cancers and defective DNA repair. Many XP children develop a primary neuronal degeneration. We describe 2 unusual XP patients who had a delayed onset of XP neurological disease. Somatic cell genetic studies indicated that they have the same defective DNA repair gene and are both in XP complementation group A. These 2 patients, together with a group A patient previously reported from London, establish as a distinct clinical entity the late onset type of the juvenile onset form of XP neurological disease. The functional capacity of these patients' cultured fibroblast strains to survive after treatment with ultraviolet radiation indicates that their DNA repair defect is less severe than that of typical group A patients who have a more severe neurodegeneration with an earlier symptomatic onset. The premature death of nerve cells in XP patients (which is presumably due to their inherited defects in DNA repair mechanisms) suggests that normal repair of damaged DNA in neurons is required to maintain integrity of the human nervous system.

Adolescent↗
PubMed1991

Spontaneous haematomyelia: a necropsy study.

Spontaneous haematomyelia (intramedullary spinal haematoma), is an uncommon event. Predisposing conditions have been reported including syringomyelia, pregnancy and delivery, angioma, spinal artery aneurysm, and haemophilia, but only rarely has a pathological evaluation been performed. Two such cases studied at necropsy are reported. In one case, the haematoma was restricted to the cervical spinal cord, while in the second case it extended from the medulla into the lowest thoracic cord segments. In both cases the haematomyelia was fatal. In the first case the clinical course was subacute, but in the other the course was more acute. Careful neuropathological examination showed no apparent cause for the haemorrhages.

Aged↗
PubMed1991

Absence of beta-amyloid immunoreactivity in mesial temporal lobe in Cockayne's syndrome.

Cockayne's syndrome is associated with dementia and other physical signs of premature senescence. Death usually occurs in the first or second decade of life. Because previous neuropathologic descriptions have included neurofibrillary tangles and calcific and dystrophic cerebrovascular changes, we examined the mesial temporal lobes of three children with Cockayne's syndrome (confirmed by 254-nm ultraviolet light studies). Immunohistochemistry was used to determine if beta-amyloid immunoreactivity was present in the parenchyma or cerebral blood vessels. Tissues from the mesial temporal lobe of patients with Alzheimer's disease and Down syndrome were used as controls. None of the three temporal lobes from patients with Cockayne's syndrome contained beta-amyloid immunoreactive material in either the parenchyma or vessels; all of the Alzheimer's disease and Down syndrome controls had beta-amyloid immunoreactivity.

Alzheimer Disease↗
PubMed1991

Selective type II muscle fiber hypertrophy in severe infantile spinal muscular atrophy.

The diagnostic muscle biopsy finding in severe infantile spinal muscular atrophy (Werdnig-Hoffmann disease, SMA type 1) is considered to be large-group atrophy with isolated clusters of hypertrophic type I myofibers. We present a unique case of severe infantile spinal muscular atrophy with selective hypertrophy of type II myofibers. A male infant presented at age 2 months with breathing difficulties and by age 4 months was hypotonic and weak. Electromyography revealed denervation in all extremity muscles, and nerve conduction velocities were normal but with small compound muscle action potentials. Quadriceps muscle biopsy revealed many hypertrophied type II myofibers (myofibers with a mean least diameter of 25.4 microns). In contrast, the largest type I myofibers were 20 microns in least diameter (mean diameter, 14.9 microns), and there was a normal-size population of type II fibers (mean diameter, 15.7 microns). In addition, sheets of atrophic type I and type II fibers averaged 2.0 microns in least diameter. Sural nerve biopsy was normal. Breathing difficulties progressed, with death ensuing at age 5 1/2 months. Autopsy revealed atrophy of ventral spinal roots with normal dorsal roots. There was loss of anterior horn cells, while remnant neurons were reduced in size. No other pathologic changes were identified. This case indicates that in severe infantile spinal muscular atrophy, relative sparing of the motor units with type II myofibers may occur.

Biopsy↗