Biomedical subjects
Publications and source records attributed to G Wise.
We report a case of neonatal bilateral spermatic cord torsion, and present the sonographic and radioisotope findings. Real-time ultrasound scans performed at 2-hour intervals showed changes highly suggestive of the acute nature of the torsion rather than that of a process that had occurred in utero.
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Four children each exhibiting a profound deficiency of phytanic acid oxidase activity in cultured skin fibroblasts but with very different phenotypes, are described. A consistently raised plasma phytanic acid value, generally considered to be pathognomonic for Refsum's disease (phytanic acid oxidase deficiency), was observed in three of these children but not in the fourth, who also showed no evidence of accumulation of phytanic acid in liver or fat biopsies. Our data suggest that the clinical diagnosis of Refsum's disease in children is more difficult because the full spectrum of clinical features usually observed in adults with the disorder is not always present. Moreover, a failure to detect a raised plasma phytanic acid value may not necessarily indicate normal fibroblast phytanic acid oxidase activity.
An improved method for the assay of human platelet pyruvate dehydrogenase is described. By generating the substrate [1-14C]pyruvate in situ from [1-14C]lactate plus L-lactate dehydrogenase, the rate of spontaneous decarboxylation is dramatically reduced, allowing far greater sensitivity in the assay of low activities of pyruvate dehydrogenase. In addition, no special precautions are required for the storage and use of [1-14C]lactate, in contrast to those for [1-14C]pyruvate. These factors allow a 5-10-fold increase in sensitivity compared with current methods. The pyruvate dehydrogenase activity of normal subjects as determined by the [1-14C]lactate system was 215 +/- 55 pmol . min-1 . mg-1 protein (n = 18). The advantages of this assay system are discussed.
Three patients around the age of 1 year had signs and a clinical course that suggested the diagnosis of spasmus nutans. One child had nystagmus and head nodding with normal fundi, but persistent failure to thrive that suggested a hypothalamic lesion from the onset. The second child had nystagmus, head nodding, and a head tilt, and a confident diagnosis of spasmus nutans was made. The third child had unilateral nystagmus with no other abnormalities, and when improvement occurred, spasmus nutans was throught to be the most likely diagnosis. All three patients had tumors that involved the third ventricular region and optic chiasm.
Two pregnancies at risk for glutaric acidemia were monitored. In one, in which the fetus was not affected, glutaric acid was not detected in the amniotic fluid at amniocentesis (15 weeks) and the glutaryl-CoA dehydrogenase activity of cultured amniotic cells was normal. In the other, a marked elevation of glutaric acid in the amniotic fluid, together with deficiency of glutaryl-CoA dehydrogenase in amniotic cells, prompted termination of the pregnancy, and studies on the abortus confirmed the diagnosis of glutaric acidemia. Glutaric acidemia, is, thus, another inborn error of metabolism which can be diagnosed in utero.
In 122 patients with unilateral brain or ocular ischemia, supraorbital Doppler studies revealed evidence of obstruction in 44 of 51 common or internal carotid arteries having greater than 70 percent stenosis, and in only 4 of 23 arteries with 50 to 70 percent stenosis. Ipsilateral bruits were present in 52 of 74 carotid arteries with greater than 50 percent stenosis, and in 19 of 37 arteries with less than 50 percent stenosis. Only one false-positive Doppler result occurred, and only 15 false-positive midcervical bruits were present in 129 normal carotid arteries. Unfortunately, these studies do not decrease the need for radiopaque arteriography, since in 11 of 53 patients, a potentially operable, symptomatic, nonobstructive common or internal carotid artery lesion would not have been suspected by supraorbital Doppler testing and auscultation alone.
In 1975, during the largest epidemic of St Louis encephalitis (SLE) in the United States, 416 cases were diagnosed in Ohio. Persons who were admitted to two Columbus (Ohio) hospitals with suspected acute viral CNS infection were prospectively studied to define the virologic and clinical aspects of SLE. Sixteen cases of SLE were diagnosed serologically. Fifteen patients had signs of encephalitis and one had aseptic meningitis. Six patients had the syndrome of inappropriate antidiuretic hormone secretion. Other frequent findings included moderate peripheral leukocytosis and CSF pleocytosis, with mild elevation of CSF protein levels but normal glucose levels. Severe neurologic sequelae were infrequent. The EEG proved valuable in diagnosis and prognosis. Results of brain scans were normal. Virus in CSF or urine was not demonstrated, nor was viral antigen in CSF or urine sediments. Specific antibody was found in the sera and CSF of all patients who were tested, but interferon was not detected.
Experiments were carried out to test the hypothesis that the differences between the surfaces of erythrocytes from normal and sickle cell patients are reflected in the degree of attachment to the capillary lining. An assay was used that measured the number of 51Cr-labeled erythrocytes (normal or sickle) attaching to a monolayer of endothelium cultured from calf aortas. Under these conditions, erythrocytes from sickle cell patients adhered better to the endothelium than did those from normal patients. The results suggested that the enhanced adhesion of the sickle cells to the endothelium may be partially responsible for the increased blockage of capillaries that produce the symptoms in sickle cell anemia.
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Four cases of Aicardi's syndrome are reported. The constant features of this syndrome are infantile spasms, chorioretinopathy, and agenesis of the corpus callosum. The chorioretinopathy appears to be a defect of the pigment epithelium and choroid without significant retinal involvement. Additional ocular features include microphthalmia, colobomas of the optic nerve and choroid, persistent pupillary membrane, and glial tissue extending from the disc. The cause of the syndrome is uncertain. It occurs only in females and is nonfamilial. A male lethal syndrome resulting from a gene on the X chromosome occurring as a spontaneous mutation has been suggested. The possible role of intrauterine infection needs further investigation.
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