PubMed Health⌕ Search

Biomedical subjects

F C Sitzmann

Publications and source records attributed to F C Sitzmann.

At least 55 records · Page 3Linked to original sources
PubMed1979

[Experiences with the uripret-system in pediatric practice (author's transl)].

The present study reports on the application of the Uripret-System for identification and susceptibility testing of microbial agents causing urinary tract infections carried out in a pediatric outpatient clinic. The findings were compared with those determined with the conventional methods in an institute of medical microbiology. For the detected mono- and mixed-cultures, in 85% of the cases a concurrent result of both methods was found. Only in one case a different microbial agent genus was determined with Uripret from that found in the institute. The quota of concurrence of the antibiograms for the mono-cultures was highest at 100% for gentamicin and lowest at 85.07% for tetracycline. With the mixed-cultures the concurrence ranged between 81.25% for tetracycline and 96.88% for sulphamethoxazole-trimethoprim. With proteus in mono- and mixed-culture the antibiograms showed concurrence to a lesser degree compared to the other microbial agent geni. The application of the Uripret-System in pediatric practice can be recommended on the basis of the present results.

Bacteria↗
PubMed1979

[Comparison of two cholesterol determination methods in children (author's transl)].

In 792 children aged 1 day-16 years cholesterol in serum was determined by two different methods: the well-known Liebermann-Burchard-reaction and the new enzymatical colorimetric test (Boehringer). The later procedure is simple and reliable. The cholesterol values got by this method amounted to 20 mg/dl lower. But it is not allowed to use a conversion-factor. The values in newborns and infants were significantly lower than these found in school childrens and adults.

Adolescent↗
PubMed1978

[Gene frequencies of both forms of galactosaemia in the western Hungarian province of Vas (author's transl)].

The two enzymes of galactose metabolism, namely galactokinase and galactose-1-phosphate uridyltransferase (Gal-1-PUT), were measured in 3653 subjects aged 7 months to 84 years in der to obtain the incidence of the gene deficiency causing galactosaemia in the Western Hungarian province of Vas. To date nothing is known about these frequencies in this particular region. It was of special interest whether these enzyme defects are to be found more frequently in gypsies than in a comparable population of West Hungary. The frequency of homozygous Gal-1-PUT deficiency amounts to 1:23,500; the respective incidence of galactokinase deficiency is 1:64,000. Both enzyme deficiencies in this province are not higher than in other countries. Considerable differences were established in the gene frequencies in individual areas and for various groups of subjects with variations from 1:30,000 to 1: 127,000 for galactokinase deficiency and from 1:5,300 to 1:81,000 for Gal-1-PUT deficiency. Neither gene deficiency occurred more frequently in gypsies than in the general population. This study demonstrates that the results of such analyses are relevant only to the investigated region and the greatest possible number of subjects must be taken in order to draw reliable conclusions.

Adolescent↗
PubMed1978

Protein load in argininosuccinic aciduria: thoughts on its biochemical implications.

A patient with argininosuccinc aciduria was charged with 50 grams of protein, which was followed by considerable hyperammonemia. There was no response in further urea formation; but there was a considerable production of orotic acid, a precursor of pyrimidines. This makes orotic acid to an important diagnostic tool for the diagnosis of impaired urea formation. The patient's plasma amino acid pattern led to the suggestion that orotic acid synthesis is initiated by increased de novo formation of carbamyl phosphate in the cytosol and not by deviation of already existing intramitochondrial carbamyl phosphate.

Adult↗
PubMed1977

Excretion of galactitol in the urine of heterozygotes of both forms of galactosemia.

In 36 heterozygotes with Gal-1-PUT deficiency and 3 heterozygotes with galactokinase deficiency galactitol (and galactose) was determined in the urine 2 and 4 h after an intravenous injection of 350 mg galactose/kg body weight (maximum dosis in adults 16 g). For the sake of comparison 10 healthy children and 5 adults, also 4 homozygotes with Gal-1-PUT deficiency and one sick child with galactokinase deficiency were included in this study. The heterozygotes with Gal-1-PUT deficiency demonstrated the same galactitol excretion as the healthy probands, while heterozygotes with galactokinase deficiency excreted a four-fold higher quantity of galactitol than the healthy and heterozygous probands of Gal-1-PUT deficiency. The child with the galactokinase deficiency excreted galactitol for a period of more than 24 h. These results are discussed.

Galactose↗
PubMed1976

Biokinetics of galactose in the homozygotes and heterozygotes of both forms of galactosemia.

41 heterozygoes and 4 homozygotes with a deficiency of galactose 1-phosphate uridyl transferase and also 3 heterozygotes and 1 homozygous patient with galactokinase deficiency were subjected to intravenous galactose loading tests with a dose of 350 mg/kg body weight in order to answer the question whether it is possible to detect the heterozygotes of both types of galactosemia by this method. For comparison, 38 healthy children and adolescents, 24 children with epidemic hepatitis and 4 children with cirrhosis of the liver, which was verified by histology, were included in the study. The elimination half-life (and also the other pharmacokinetic parameters as inaugurated by Dost) was the same for all the heterozygotes for both types of galactosemia almost without exception, and for the healthy cs, children in the acute stages of hepatitis and patients with cirrhosis of the liver was prolonged 2 to 5 times the normal. In patients with hepatitis, however, the elimination half-life was normal before the transaminases. Accordingly, the galactose clearance was decreased to half and one-fourth of the normal. Hence, heterozygotes with galactosemia cannot be detected with galactose loading tests.

Adolescent↗
PubMed1975

[Activity of enzymes of galactose metabolism in so-called congenital cataract (author's transl)].

Activity of galactokinase (69 subjects) and galactose-1-phosphate uridyl transferase (92 subjects) were measured in haemolysed blood from children (predominantly of school age) with congenital cataract. chi2 tests, gene-frequency determination and metabolic-kinetic studies indicated that the changes in the lens in congenital cataract are partly due to a manifest or latent disorder of galactose metabolism, in particular a glactose-1-phosphate uridyl transferase defect.

Austria↗
PubMed1975

[Biochemical and clinical findings in congenital abnormalities of galactose metabolism (author's transl)].

Current knowledge of the biochemical basis of abnormalities in galactose metabolism are discussed. The clinical picture, analysis of frequency and therapy are described. Although the galactokinase defect hat been described only rarely, abundant literature has been published on the Gal-1-PUT defect. Five variations of this defect are known (Duarte, Los Angeles, Rennes, Indiana and Negro variants), but these simulate only partially the clinical picture of galactosaemia. The UDP-Gal-4-epimerase defect has only once been described. Defects in galactose metabolism which show autosomal recessive inheritance are demonstrated in milk-fed infants by means of the Guthrie test. If the clinical picture arouses the suspicion of a defect in Gal-1-PUT or galactokinase, then a milk-free diet should be given until the diagnosis has been verified by enzyme analysis. Children who have been fed on a lactose-free diet show normal physical and mental development. If possible the entire family of the proband should undergo enzyme analysis in order to detect and to counsel all the heterozygotes in the family. Genetic counselling is considered to be absolutely indicated in this case. Termination of pregnancy is not indicated under any circumstances.

Adenosine Triphosphate↗