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Biomedical subjects

J Zeman

Publications and source records attributed to J Zeman.

At least 109 records · Page 6Linked to original sources
PubMed1991

[Metabolites of neurotransmitters in the cerebrospinal fluid in children].

Metabolites of neurotransmitters, homovanillic acid (HVA) and 5-hydroxyindolacetic acid (5-HIAA) were assessed in the cerebrospinal fluid of 149 children of different age from neonatal age to 13 years by the method of high pressure liquid chromatography with electrochemical detection. The mean concentration of the two metabolites in cerebrospinal fluid correlated indirectly with the childrens age--the highest mean concentrations of HVA and 5-HIAA were found in the group of neonates, lower values in infants and the lowest ones in the group of toddlers and older children. In the group of toddlers and older children with severe mental disorders and repeated tonic-clonic or myoclonic seizures a lower mean 5-HIAA was found in the cerebrospinal fluid than in children of equal age, similarly mentally affected but without seizures in the case-history.

Adolescent↗
PubMed1991

[Phosphoethanolamine in the blood and urine in sick children].

The phosphoethanolamine (PEA) concentration in morning urine was assessed by liquid chromatography in 866 patients examined because of suspected impaired aminoacid metabolism. In 763 patients the blood was also examined. A serum concentration of PEA above 10 mumol/l was recorded in 2.1%. The concentration of PEA in urine above 10 mmol/mol creatinine was recorded in 42%. The authors revealed a significant relationship between urinary PEA excretion and the patient's age. The urinary PEA concentrations are higher during the first weeks and months of life, in older children and during adolescence its excretion declines and this trend was recorded also in the author's group of patients. In a group of 111 infants with impaired function of the CNS, in 66 infants with systemic skeletal affections and in 73 infants with hepatopathies a significantly higher mean urinary PEA concentration was found that in the control group of healthy infants. In children aged 3-14 years and in the group of older children the mean PEA concentration was elevated only in patients with systemic skeletal affections, even after elimination of patients with hypophosphatasia. Long-term or intermittently increased PEA excretion is a manifestation of specific metabolic disease only in hypophosphatasia. In other diseases it can be interpreted as a secondary finding conditioned by an impaired phospholipid metabolism at the level of cellular membranes in the CNS, liver or skeleton.

Adolescent↗
PubMed1990

Recurrent abdominal pain in children: psychiatric diagnoses and parental psychopathology.

Approximately 12% of children report recurrent episodes of abdominal pain. In only about 10% of these cases, however, can an organic etiology be identified, and therefore it often is assumed that these children have emotional problems. To test this hypothesis, children with recurrent abdominal pain (RAP) with no identifiable organic cause were compared to children with an organic diagnosis for their abdominal pain, children with psychiatric disorders, and healthy controls. Both groups of children with abdominal pain had significantly more psychiatric disorders (predominantly anxiety and depression) than did the healthy group. Both RAP and psychiatric children had significantly higher Child Behavior Checklist internalizing scores; psychiatric children were rated as significantly more maladjusted on the Children's Global Assessment Scale. Mothers of RAP children were significantly more anxious than mothers of organic pain and healthy children. Psychiatric children were significantly more likely than the other three groups to underreport their psychiatric symptoms relative to their mothers.

Abdominal Pain↗
PubMed1990

[Partial trisomy 1q25-1q32 in a boy with isolated lactase deficiency].

A six-month-old boy with partial trisomia 1q25-1q32. In the phenotype psychomotor retardation, progeric facial features and general dystrophy dominated. He failed to thrive partly because of milk intolerance due to hypolactasia. This disorder was revealed by histochemical examination of the enterobioptic material. The chromosomal aberration developed as a result of tandem duplication of section 1q25-1q32 de novo; this finding was not published so far in the literature.

Chromosomes, Human, Pair 1↗
PubMed1990

[Pneumococcal infectious endocarditis in an infant (case report)].

In a 10-month-old infant with purulent pneumococcal meningitis without structural heart disease acute infectious endocarditis developed. Echocardiographic examination revealed vegetations on both cusps of the mitral valve. With regard to the age and critical condition of the infant, in the acute stage surgical removal of the vegetations, was not indicated. During long-term intravenous antibiotic therapy the vegetations on the mitral valve and clinical and laboratory manifestations of endocarditis disappeared. The valve was, however, devastated and the child developed severe mitral insufficiency. Because of progressive cardiac failure which could not be controlled by drugs, at the age of 19 months a plastic operation of the mitral valve had to be performed after which the haemodynamics and clinical condition improved markedly.

Endocarditis, Bacterial↗
PubMed1990

[Lactate dehydrogenase in the cerebrospinal fluid in 57 hypoxic neonates].

The authors used assessment of lactic dehydrogenase activity in cerebrospinal fluid to evaluate the severity of hypoxic damage of the CNS of neonates. The highest activity was recorded in infants who died in conjunction with the hypoxic lesion of the CNS. The lowest activity was found in neonates with a permanently normal neurological finding during infancy. From the results ensues the prognostic importance of the above examination for subsequent psychomotor development of children.

Humans↗
PubMed1987

"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity.

Four patients in three families with "peripheral" tetrahydrobiopterin deficiency were investigated. They were characterized biochemically by a tetrahydrobiopterin-responsive hyperphenylalaninaemia, a high neopterin/biopterin ratio in urine and plasma, and normal or elevated concentrations of biopterin, homovanillic acid, and 5-hydroxyindole acetic acid in cerebrospinal fluid. From measurements of the activity of erythrocyte 6-pyruvoyl tetrahydropterin synthase (PTS, formerly called phosphate-eliminating enzyme) and phenylalanine loading tests in the patients and their parents, one patient was demonstrated to be heterozygous for PTS deficiency. The others were obviously genetic compounds (allelism) with incomplete PTS deficiency. Three of the children developed normally, two of them under treatment with tetrahydrobiopterin. In the latter two patients, significantly lower concentrations of biopterin, homovanillic acid, and 5-hydroxyindole acetic acid in cerebrospinal fluid were noted at age 7 months (when treatment was interrupted) than those observed at 3 and 5 weeks, respectively. The infant who is heterozygous for PTS deficiency was born small for gestational age and showed a moderately delayed psychomotor development. It is concluded that "peripheral" tetrahydrobiopterin deficiency is caused by a partial PTS deficiency with sufficient activity to cover the tetrahydrobiopterin requirement of tyrosine 3-hydroxylase and trytophan 5-hydroxylase in brain but not enough for phenylalanine 4-hydroxylase in liver. For therapy, tetrahydrobiopterin, 2-5 mg/kg in a single oral dose per day, is recommended to keep plasma phenylalanine normal. A careful observation of the mental development is indicated.

Alcohol Oxidoreductases↗
PubMed1987

[Menkes syndrome].

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Brain Diseases, Metabolic↗