We report the case of a 16-year-old girl with a variant form of citrullinemia who had been treated with anticonvulsants for uncontrolled epilepsy during the last 4 years. The diagnosis of citrullinemia was made because she had elevated values for serum citrulline (about 10 times control levels), elevated blood ammonia (over 400 micrograms/dl) and reduced activity of argininosuccinate synthetase in the biopsied liver tissue. Her EEG showed high voltage slow activity, but not triphasic waves, when she had high concentrations of blood ammonia. Treatment with a low-protein diet and sodium benzoate resulted in a normalized blood ammonia level, but her plasma citrulline levels remained unchanged. After the therapy she had neither convulsions nor seizure discharges on EEG, even when all anticonvulsant drug therapy was stopped. Thus it is suggested that hyperammonemia may account for the observed abnormal EEG findings, and triphasic waves on EEG are not always recorded in cases of hyperammonemia.

Adolescent↗

PubMed1984

Effects of zinc and copper content of formulas on growth and on the concentration of zinc and copper in serum and hair.

We studied the effect of dietary zinc (Zn) and copper (Cu) on the levels of these elements in serum (at 1, 3, and 5 months of age) and in hair (at 5 months of age) of breast- and formula-fed infants. Three different formulas were used: (a) Commercially available standard infant formula containing 1.0 mg/L of Zn and 30 micrograms/L of Cu; (b) Zn supplemented formula, containing 3.2 mg/L of Zn and 30 micrograms/L of Cu; and (c) Zn- and Cu-supplemented formula, containing 3.2 mg/L of Zn and 400 micrograms/L of Cu. The median Zn content of breast milk was 4.8 mg/L at 1 week, 2.9 mg/L at 1 month, 1.1 mg/L at 3 months and 1.1 mg/L at 5 months. Breast milk Cu content was 510 micrograms/L at 1 week, 440 micrograms/L at 1 month, 270 micrograms/L at 3 months, and 200 micrograms/L at 5 months after delivery. All infants were healthy and full term, and weight and length velocities were similar in each of the four groups studied. Serum Zn levels were significantly higher both in the infants fed the Zn-supplemented formula and those fed the Zn-and-Cu-supplemented formula compared with the other two groups of infants at 3 and 5 months of age. Zn levels in hair were significantly elevated (invariably greater than 80 micrograms/g) only in infants fed Zn-supplemented formula.(ABSTRACT TRUNCATED AT 250 WORDS)

Body Height↗

PubMed1984

Isolation of a DNA plasmid in the fungus Rhizoctonia solani.

A DNA plasmid, designated pRS64, was detected in three isolates of anastomosis group 4 (AG-4) of Rhizoctonia solani Kühn by biophysical methods. The plasmid was a linear double-stranded DNA with a molecular weight of 1.68 +/- 0.06 X 10(6) or 2617 +/- 87 bp. Weakly pathogenic isolates of R. solani, 1668 RI-1, 1271 RI-64 and 1272 RI-1, which showed abnormally slow growth, contained the plasmids, but pathogenic isolates, 1668, 1271 and 1272, showing normal growth, contained no detectable plasmid DNA.

DNA, Fungal↗

PubMed1984

Relative bioavailability of two different phenytoin preparations. Evidence for an age dependency.

Relative bioavailability (RB) of two commercially available phenytoin preparations showed greater differences in absorption in children than in adults. 93 patients received one or more doses of one or two preparations. Serum assays were made at steady state. Age-matched groups were compared. In another cross-over study, 12 patients received two or more doses of each formulation until steady state levels were reached. 5 adult volunteers received single doses of each preparation, and multiple serum samples were assayed to define the peak blood concentration and area under the curve. To calculate RB, the value of V max/F was determined from plots of serum concentration (C) vs. C/dose (C/D). Bioavailability was greater in the preparation with the smaller crystal size and more rapid in vitro dissolution. Relative bioavailability increased with increasing age, suggesting an age-dependent effect on drug absorption.

Adolescent↗

PubMed1984

Hyperimmunoglobulin-E-associated recurrent infection syndrome accompanied by chemotactic inhibition of polymorphonuclear leukocytes and monocytes.

An 8-yr-old girl with a history of severe recurrent infections including perinephritic, pulmonary, and hepatic abscesses had elevated serum IgE levels. Her serum inhibited chemotaxis of polymorphonuclear leukocytes (PMN) and monocytes. Exchange blood transfusion or plasma exchange at the time of severe infection resulted in normalization of chemotactic activity of PMN shown by the skin window method. Although this effect became negative 1 wk after the treatment, the procedures improved her clinical course. The patient's serum, obtained by exchange blood transfusion, 1) inhibited normal PMN chemotaxis toward cultured supernatant of E. coli, zymosan-activated serum, and formyl methionyl-leucyl-phenylalanine (f . Met-Leu-Phe), a synthetic chemotactic peptide; 2) inhibited monocyte chemotaxis, 3) showed an absence of digestive activity of f . Met-Leu-Phe, 4) was heat stable at 56 degrees C for 30 min and 5) showed an absence of antigenicity of IgE in a partial purified inhibitor with a molecular weight of 30,000-40,000. The inhibitory effect seemed to be reversible.

Bacterial Infections↗

PubMed1984

Renal handling of free and acylcarnitine in secondary carnitine deficiency.

Free and acylcarnitine in serum and urine samples were measured in miscellaneous diseases, including mitochondrial cytopathy with Fanconi's syndrome (MCFS). The urinary concentration of acylcarnitine always exceeded that of free carnitine, and a significant negative correlation was found between the ratio of serum free to acylcarnitine and the ratio of free to acylcarnitine clearance among control and test patients (p less than 0.005). A patient with MCFS excreted large amounts of free carnitine compared with acylcarnitine in urine, which may be attributable to decreased reabsorption of free carnitine in renal tubules.

Adolescent↗

PubMed1984

Valproate treatment and carnitine deficiency.

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Animals↗

PubMed1984

Studies on macrocyclic lactone antibiotics. VII. Structure of a phytotoxin "rhizoxin" produced by Rhizopus chinensis.

A new 16-membered macrolide designated as rhizoxin was isolated as a toxin produced by Rhizopus chinensis, the causal agent of rice seedling blight . The skeletal structure was determined by detailed NMR spectroscopic investigation of this compound and of its derivatives. Rhizoxin induced at a concentration of 10 ng/ml abnormal swelling of rice seedling roots, which is one of the characteristic symptoms of this disease. This compound also exhibited potent antifungal activity but little effect against bacteria.

Anthraquinones↗

PubMed1984

A case of congenital nephrotic syndrome associated with partial deficiency of lecithin cholesterol acyltransferase (LCAT) and hypothyroidism.

The case of a 3 year-old boy with congenital nephrotic syndrome is reported, in whom decreased LCAT activity and hypothyroidism were also present. Renal biopsy confirmed a diffuse proliferative glomerulonephritis with a large number of foam cells in the capillary lumen of the glomerulus and the interstitium, which stained positively with acid phosphatase indicating the presence of macrophage with phagocyted lipid vacuole. The histological picture was similar to that of familial LCAT deficiency, but the reported case is one of secondary LCAT deficiency as a result of urinary loss of the enzyme. Replacement therapy with thyroid hormones resulted in improvement in growth and development.

Child, Preschool↗

PubMed1984

[Spread of lumbar epidural analgesia and the epidural pressure following the drip infusion technique of local anesthetics].

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Adolescent↗

PubMed1983

Unique pattern of Epstein-Barr virus specific antibodies in recurrent parotitis.

Sera from 34 children with recurrent parotitis were measured by indirect immunofluorescence technique for antibody levels to several Epstein-Barr virus (EBV) antigens. IgG antibodies to EBV-capsid antigen (VCA) and EBV-associated nuclear antigen, often at high titres, were found in 29 of these patients, of whom 20 also had IgA antibody to VCA. Antibody level to early antigen complex (R and D) rose in 19 patients, of whom 18 had antibody to the R component alone. The abnormal patterns of EBV antibodies persisted for 3-14 months during and after the illness in 8 patients. These observations suggest that EBV infection may be important in the pathogenesis of recurrent parotitis.

Animals↗

PubMed1983

Ornithine carbamoyltransferase (OCT) in the jejunal mucosa, as a reference of the liver OCT.

Ornithine carbamoyltransferase (OCT) was purified from normal human liver by a modification of the method of Kalousec. The protein is homogeneous by electrophoresis in sodium dodecyl sulfate containing gels and in non-dissociating gels. The specific activity is 186 mumol X min-1 X mg-1 protein. The purification factor was approximately 365, and the net recovery 3.2%. Antibodies were prepared in rabbits directed against the purified protein. These antibodies reacted specifically with purified OCT, with a crude extract of human liver and with the partially purified enzyme of the human small intestine. Apparent Km's of OCT in the jejunal mucosa were similar to those of the liver. Physical parameters, including heat stability and pH profile, were also similar to those of liver. These results suggest that OCT in the jejunal mucosa might be of the same genetic origin as that of the liver. In addition, the fact that OCT activities were similar in jejunal samples taken from different areas indicates that jejunal mucosa obtained by per oral biopsy may be useful in detecting OCT deficiency as an alternate to liver tissue.

Chromatography, DEAE-Cellulose↗

PubMed1983

Reports of two cases of autoimmune thyroiditis while receiving anticonvulsant therapy.

Two cases, one a 15-year-old girl and the other a 12-year-old girl, with goitrous hypothyroidism associated with elevated anti-DNA and antithyroid antibodies are reported. Abnormalities were noticed 1 year and 3 months and 5 years after the start of anticonvulsant therapy in case 1 and case 2, respectively. Alternation of drug (Valproate from ethosuximide) in case 1 resulted in disappearance of the goitre, and the thyroid function tests became normal. The titers of the antithyroglobulin and the antimicrosomal antibodies were reduced (below 1:100) from 1:400 and 1:1600, respectively. Discontinuance of anticonvulsant therapy and replacement therapy with desiccated thyroid in case 2 resulted in clinical improvement, reduction of antithyroglobulin antibody from 1:6400 to 1:400 and of antimicrosomal antibody from 1:409,600 to 1:25,600, and the thyroid function tests becoming normal. The present observations suggest that the anticonvulsants may induce or exacerbate autoimmune mechanisms in certain thyroid diseases.

Adolescent↗

PubMed1983

Circulating immune complex in the mucocutaneous lymph node syndrome.

In 16 patients with mucocutaneous lymph node syndrome (MCLS) during the first 2 weeks after the onset (acute phase) and 1 month after the onset (remission phase), measurement of the circulating immune complex (CIC) was performed by a C1q-binding assay (C1q-B.A.) and/or a Protein-A precipitation test (protein-A P.T.). Seven out of 12 samples and four out of nine samples were shown to have raised levels of CIC in the acute phase with the C1q-B.A. and Protein-A P.T. test. In the remission phase, on the other hand, positive results were found in one out of six samples with the C1q-B.A. test and in three out of nine samples with the Protein-A P.T. test. High levels of CIC and disease activity were parallel. Our finding of a higher incidence of positive CIC in MCLS supports the possibility of the immunopathological mechanism.

Acute Disease↗