PubMed Health⌕ Search

Biomedical subjects

L Klujber

Publications and source records attributed to L Klujber.

At least 37 records · Page 2Linked to original sources
PubMed1984

Leukocyte beta-glucosidase in a child with Gaucher's disease and his kinship.

Beta-glucosidase was determined in leukocyte homogenates of a male child with Gaucher's disease and members of his family. An important difference in enzyme activity was found in the heterozygous gene carriers; in one obligate heterozygote, the mother, a high residual enzyme capacity was detected. Various methods of enzyme determination using various substrates are recommended for the detection of the gene carrier condition.

Child, Preschool↗
PubMed1984

Urinary 3-methylhistidine and urinary 3-methylhistidine/creatinine ratio in Duchenne-muscular dystrophy in hemizygotes and in gene-carriers.

The informative value of urinary 3-methylhistidine excretion and urinary 3-methylhistidine/creatinine ratio was investigated in DMD hemizygote male children (n = 13) and in gene-carrier mothers. A significant increase of the urinary 3-methylhistidine/creatinine ratio was found in DMD hemizygotes. There was no significant correlation between serum CK and the clinical stages of DMD and the above mentioned laboratory parameters. These parameters were not found suitable in genetic counselling concerning the DMD gene-carrier status.

Adolescent↗
PubMed1984

Serum lipid and lipoprotein-cholesterol values in cord blood and on the sixth postnatal day in newborns of varying maturity.

Triglyceride, total cholesterol, phospholipid, HDL-cholesterol, VLDL-cholesterol and LDL-cholesterol concentrations were studied in 22 eutrophic, 16 true premature and 22 small-for-gestational age neonates in cord blood and on the 6th postnatal day. According to the findings the lipid-lipoprotein metabolism was influenced primarily by gestational age. Parallel with increasing gestational age, phospholipid and triglyceride concentrations rose whereas cholesterol values decreased. Postnatal changes of lipid-lipoprotein metabolism developed more slowly in premature than in mature newborns. The effects of intrauterine malnutrition manifested themselves mainly in differences of the triglyceride and phospholipid levels.

Birth Weight↗
PubMed1982

Relationship between metabolic control and plasma lipoprotein level in diabetic children.

All lipid and lipoprotein fractions except for total cholesterol were found to be high in diabetic children under long-term treatment. There was a positive correlation between HDL-cholesterol, HbA1a-c and the insulin dose. In untreated diabetic children, plasma triglyceride and its subfractions were also high, but phospholipids were normal. Total plasma cholesterol was normal, but its VLDL + LDL subfraction was increased and HDL-cholesterol low. After two months of insulin-treatment, parallel with the decrease of HbA1a-c, the HDL-cholesterol increased and there was a drop in the level of triglycerides. It is concluded that HDL-cholesterol is a good parameter of metabolic control during the initial therapy of diabetes. In patients under long-term treatment there is no such a simple relationship between control and HDL-cholesterol and the daily insulin-dose seems to play an important role in the regulation of plasma HDL-cholesterol.

Adolescent↗
PubMed1981

Energy metabolism, substrate utilization, and nitrogen balance in parenterally fed postoperative neonates and infants. The effect of glucose, glucose + amino acids, lipid + amino acids infused in isocaloric amounts.

In ten postoperative neonates and young infants the effect of three isocaloric, isovolemic intravenous nutritional regimens (glucose alone, amino acids + glucose, amino acids + lipid) on nitrogen balance, energy, and substrate metabolism were tested. Each regimen was given for 24 hours to each infant through three consecutive days, providing the same daily amino acid intake when the amino acid mixture was combined with glucose or lipid. Oxygen consumption and RQ were followed through three or four hours during each study period. The participation of three main nutrients in energy metabolism was calculated from the urinary N excretion and nonprotein RQ. Administration of glucose infusion alone was associated with a negative N balance. Addition of amino acids with glucose produced a marked N retention. This positive N balance remained unchanged when lipid was substituted for glucose as a nonprotein energy source. Alpha amino-nitrogen excretion and participation of protein catabolism in total energy metabolism were found to be identical during the three nutritional regimens, indicating that the amino acids together with glucose or lipid were either retained in nonprotein pools or were utilized for protein synthesis.

Energy Metabolism↗
PubMed1981

Fasting biochemical parameters and their relationship to anthropometric measurements in childhood obesity.

Fasting plasma immunoreactive insulin, triglyceride, free fatty acid, cholesterol, glycerol, blood glucose, lactate, pyruvate level, and lactate/pyruvate ratio were measured and an intravenous glucose tolerance test was done in obese and control children. The levels of most of the metabolites and the glucose tolerance were similar in the two groups except for the higher immunoreactive insulin and triglyceride levels in the obese group. Further metabolic alterations could be detected when the obese children were divided into subgroups on the basis of fasting insulin and triglyceride levels, and of glucose tolerance. Only three significant correlations were found between metabolic parameters and anthropometric measurements when the obese group was treated as a whole, but numerous other positive and negative correlations were detected in the subgroups. The most striking and unexpected finding was the negative correlation between cholesterol and free fatty acids and some indices of fatness in the whole obese group and in some subgroups. It is concluded that obese children ("exogenous obesity") cannot be regarded as a metabolically homogeneous group and the correlations between anthropometric parameters and plasma metabolites remain to be controversial.

Anthropometry↗
PubMed1980

Metabolic effects of septicaemia in newborn and young infants with particular reference to the plasma free amino acids.

Blood samples were obtained from 13 infants with clinically and microbiologically confirmed septicaemia. Two subgroups of the septic infants were formed according to postnatal age, an early onset group consisting of 6 infants younger than 7 days, and a late onset group comprising 7 infants of 20 infants. The blood samples were analysed for 18 plasma amino acids and glucose, lactate and FFA. Except the significantly lowered blood glucose in the early onset group of infants, no appreciable change occurred in the glucose, lactate and FFA levels. The plasma aminogram was different in the two groups, as hypoaminoacidaemia was more pronounced in the early onset group. The branched chain amino acids decreased significantly in both groups. The three important glucogenic amino acids alanine, glycine and proline showed a decrease only in the early onset group. Among the calculated plasma amino acid ratios the phenylalanine: tyrosine quotient was markedly increased. This, in addition to the response of the branched chain amino acids, has been found characteristic of a variety of clinical and experimental infections.

Alanine↗
PubMed1980

Etiological study of mental retardation in Budapest, Hungary.

The first complex etiological study of mental retardation in Budapest was carried out with 1,364 children ages 7 to 14 years. Of this sample, 1,060 attended special schools for mentally retarded children (47.5 percent), and 304 children lived in one of two residential training centers for moderately and severely retarded persons. Apart from the cases of unknown etiology (12.6 percent) and those who turned out to be "normal" (6.5 percent), approximately 50 percent of the index patients were classified as pathologically retarded, and the other 50 percent as familial--culturally retarded. Strictly genetic disorders (inborn errors of metabolism, malformation syndromes caused by single mutant genes, and autosome and sex chromosome abnormalities) accounted for 3.1, 4.0, 4.0, and 1.3 percent, respectively, of all cases. Pre-, peri-, and postnatal exogenic damage occurred in 1.8, 20.4, and 6.8 percent of the cases, respectively. Results were compared with findings from previous surveys in the United States and the United Kingdom.

Adolescent↗