Evaluation of improved Ektachem chloride slides with respect to purine interference.
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Biomedical subjects
Publications and source records attributed to J L Potter.
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An acute cyanotic episode due to methemoglobinemia occurred in a 16-month old girl following the ingestion of N,N-dimethyl-p-toluidine, a commercially available component used in the production of artificial fingernails. The amount of the parent compound ingested was about 6 mg/kg of body weight. Administration of methylene blue was effective in the reversal of the methemoglobinemia. In vitro studies suggest that the activity of the compound was probably due to its biochemical transformation to the toxic metabolite p-methylphenylhydroxylamine. We expand the list of aromatic amino or nitro compounds and their derivatives capable of producing methemoglobinemia and call attention to the hazard of their ingestion.
An 11-year-old boy who presented in acute renal failure with significant increases of uric acid and phosphorus in his serum was discovered to have acute lymphoblastic leukemia. Five years later, he had a second and similar episode of acute renal failure, which was responsive to hemodialysis. After three months of daily therapy with allopurinol, a third and final episode of renal failure was unresponsive to peritoneal dialysis. Autopsy revealed an obstructive uropathy; focal nephrocalcinosis; and multiple, small, tan calculi in the calyces of both kidneys. Systemic cryptococcosis was also discovered. The stones, characterized by paper chromatography, electrophoresis, x-ray diffraction, and infrared spectroscopy, were 82% xanthine, 15% oxypurinol, and 3% hypoxanthine. We suggest that attention to the effects of accelerated tumor-cell lysis may protect renal function in patients with a large and drug-sensitive tumor cell load. Similarly, early detection of the fungal complications of leukemic therapy is an essential component of the treatment program.
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Two siblings had olivopontocerebellar degeneration, failure to thrive, hepatic fatty change and cirrhosis, and a dyslipoproteinemia characterized by low cholesterol and elevated triglycerides. This condition was distinct from other cerebellar atrophies and ataxias and was not due to malabsorption or malnutrition. Cerebellar degeneration progressed rapidly during the first year of life, and both children died from intercurrent infections and surgical complications at 11 and 17 months. Stereotyped clinical and pathologic findings in the two patients suggest a previously unreported genetic metabolic disorder affecting the liver and the CNS.
Ornithine transcarbamylase (OTC) (E.C.2.1.3.3) is an X-linked hepatic enzyme in the urea cycle necessary for ammonia detoxification. Deficiency of OTC results in neonatal hyperammonemia, coma, and death in childhood. Because fibroblasts do not express OTC, prenatal diagnosis in the past has required fetal liver biopsy. Using a complementary DNA (cDNA) for OTC for Southern blot analysis of genomic DNA, we have found probands with complete OTC deficiency from two unrelated families in whom the same TaqI restriction endonuclease site has been altered because of independent, but not necessarily identical, mutations in the OTC gene, suggesting that this site may be a relative hotspot for mutation at a location that is critical for normal gene function. This TaqI alteration has allowed the identification of the individual in each family in whom the mutation originated as well as the exclusion of a recurrence of OTC deficiency in a male fetus at risk for the disease. OTC deficiency joins the growing list of genetic disorders for which Southern blot analysis allows accurate heterozygote detection and prenatal diagnosis in conditions for which they were not previously available.
Hepatobiliary scintigraphy has disclosed a host of intrahepatic and extrahepatic lesions which mimic gallbladder disease. Two cases of hepatic amebic abscess are reported in which the presentations masqueraded as acute cholecystitis. Correlative, noninvasive imaging rapidly diagnosed both cases and in 1 case identified a serious complication.
Predisposing factors, onset of symptoms to diagnosis interval, computerized tomography findings and the impact of computerized tomography on the outcome were studied retrospectively in 24 patients with renal or perirenal infections. The most common predisposing factors were diabetes mellitus and urinary tract calculi. The mean interval from the onset of symptoms to diagnosis was 6.8 days. The most common computerized tomography findings were thickening of Gerota's fascia, renal enlargement, focal decreased renal attenuation, perirenal fluid and focal gas. Four patients died despite early diagnosis and appropriate therapy. Computerized tomography aided in the diagnosis, assessment of the extent of disease, treatment and followup. Computerized tomography is the most direct method to evaluate patients with suspected renal or perirenal infection, although mortality may not be altered significantly.
Two diabetic patients in whom emphysematous pyelonephritis developed after renal transplantation are described. Clinical recognition of this unusual and serious infection is masked by the effects of immunosuppression. Abdominal radiographic, ultrasound, and computed tomography findings are discussed. The clinical presentation includes urinary tract infection, sepsis, and acute tubular malfunction of the allograft in insulin-dependent diabetics.
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Intense cyanosis in a previously well, 30-month-old, white girl was found to be due to the ingestion of benzocaine. A wide variety of chemical compounds present in many proprietary products, when ingested, can cause this presentation in individuals with structurally normal hemoglobin and normal activity of methemoglobin reductase. The phenomenon appears to be dose-related. Immediate recognition and initiation of appropriate therapy will effect a rapid reversal of the methemoglobinemia, and in some cases, may be life-saving. Caution should be exercised in the use of benzocaine-containing preparations.
1. The activity of a particulate enzyme prepared from encysting cells of Acanthamoeba castellanii (Neff), previously shown to catalyze the incorporation of glucose from UDP-[14C]glucose into both alkali-soluble and alkali-insoluble beta-(1 leads to 4) glucans, was stimulated several fold by glucose-6-phosphate and several related compounds. 2. Incorporation was observed when [14C]glucose-6-P was incubated with the particles in the presence of UDP-glucose. The results of product analysis by partial acid hydrolysis indicated that glucose-6-P stimulates the formation of both alkali-soluble and alkali-insoluble beta-(1 leads to 4) glucans from UDP-[14C]glucose and was itself incorporated into an alkali-insoluble beta-(1 leads to 4)glucan. 3. When particles incubated with UDP-[14C]glucose and glucose-6-P were reisolated and then reincubated with unlabeled UDP-glucose and glucose-6-P, a loss of counts from the alkali-soluble fraction was detected along with a corresponding rise in the radioactivity of the alkali-insoluble fraction. This suggests that the alkali-soluble beta-glucan was converted to an alkali-insoluble product and possibly may be an intermediate stage in cellulose synthesis.
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We present a modified Evelyn-Malloy method, adapted to the Abbott Biochromatic Analyzer (ABA-100) for the determination of both total and direct bilirubin. It requires less than 25 mul of serum or plasma. At least 50 samples can be assayed per hour with economy of reagent consumption and the precision compares favorably with that for conventional manual methods.
Assessment of the markedly elevated concentration of free cystine in conjunctival tissue from patients with cystinosis permits a rapid, simple, and unequivocal diagnosis of this disorder of amino acid metabolism.