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Biomedical subjects

A Mrskos

Publications and source records attributed to A Mrskos.

At least 19 recordsLinked to original sources
PubMed1993

Urinary amylase isoenzymes and amylase polymorphism variants in families with diabetes mellitus type 1.

Insulin-dependent diabetes mellitus type 1 is an autoimmune disease of pancreatic beta-cells with a certain genetic predisposition that is not yet clear. In spite of the confirmed association of diabetes mellitus type 1 with several HLA haplotypes it is considered that other loci must be involved for total genetic susceptibility to the disease. The relationship of insulin deficiency and decreased pancreatic amylase activity suggests that insulin itself is a direct activator of amylase gene expression. Endocrine pancreatic function was monitored by the indirect non-invasive method of urinary pancreatic amylase activity determination (expressed in percentage of total amylase activity) in diabetic children, their parents, healthy sisters and brothers, and in a separate group of women with diabetes type 1 of over 20 years duration. The incidence of hereditary amylase polymorphism variants in these subjects was also ascertained. Decreased pancreatic amylase activity in urine (under 58%) was found to be a characteristic trait in diabetics, and a susceptibility trait in asymptomatic family members. Normal pancreatic amylase activity (66.7 +/- 5.4%) is rare in diabetic patients type 1, but may be seen as a favourable prognostic trait, representing resistance to diabetic complications. The results support the suggestion that hereditary predisposition to the disease is inherited from the father rather than the mother, and that heterozygous amylase polymorphism variants protect their carriers against diabetes mellitus type 1.

Adolescent↗
PubMed1992

[Screening for alpha 1-antitrypsin deficiency in neonates].

In a two-year investigation 113,274 children were screened for alpha-1-antitrypsin deficiency. An original and cheap method was used. In children with an alpha-1-antitrypsin values lower than 1.5 g/l the phenotype was assessed. In 120 neonates alpha-1-antitrypsin was assessed by screening and also quantitatively. The physiological range of alpha-1-antitrypsin for neonates is: 1.4-3.32 g/l. A low incidence of alpha-1-antitrypsin in the Czechoslovak population, as compared with investigations abroad, was revealed. The authors discuss the possibility to extend screening from the clinical, ethical and economic aspect to the entire republic.

Humans↗
PubMed1989

[Insulin, glucose, proteins and amylase in the saliva of obese children].

The authors examined the insulin, glucose, total protein concentrations and amylase activity in the saliva of normal (n = 7) and obese subjects (n = 14) before and after a meal. The variability of the values of the investigated parameters in different subjects is considerable. During repeated examinations of the same normal subjects after a prolonged time interval the responses under similar condition in saliva is 17.7 +/- 13.8 microU/ml, when the mean maximum in the 120th minute is 24.7 +/- +13.9 microU/ml. The glucose concentration is on average 2.1 +/- 1.3 mg/dl, total protein 279.5 +/- 53.2 mg/dl and the amylase activity 226 +/- 133 thousand U/l. In the dynamics of the investigated parameters in obese subjects the concentration of insulin and the other parameters are on average higher than the maximum insulin level in normal children, and in three obese children they were more than four or five times higher. The gradual progressive hypersecretion of insulin may thus imply a disposition for type II diabetes mellitus at a later age.

Adolescent↗
PubMed1980

Severe lactose intolerance with lactosuria and vomiting.

An infant with lactose intolerance is described. A breast-fed infant developed vomiting at 3 weeks, and became dehydrated. Lactosuria, aminoaciduria, and liver damage were preesent. A milk-free diet led to rapid recovery. At 6 months a normal diet was well tolerated.

Humans↗
PubMed1978

PKU locus: genetic linkage with human amylase (Amy) loci and assignment to linkage group I.

The linked alpha-amylase loci Amy 1 and Amy 2 were evaluated for their linkage relationship to the PKU locus using data collected from two (one Czech and one Polish) groups of families. The five sibships informative for Amy 1:PKU give a z score of 1.505 at theta = 0.00 and the eight sibships informative for Amy 2:PKU give a z score of 2.709 at theta = 0.00. Due to the tandem position of Amy 1 and Amy 2 loci, these data could be combined, and linkage between Amy and PKU loci established with a z score 4,214 at theta = 0.00. The practical significance of the linkage, especially for identifying PKU allele carriers, is emphasized.

Amylases↗
PubMed1977

Haemorrhagic diathesis as a possible early sign of hereditary fructose intolerance.

An infant girl three weeks of age with the leading symptom of skin haemorrhages is presented. On further investigation, the signs of severe hepatic damage with hypofibrinogenaemia and prothrombin complex impairment, and renal tubular dysfunction were disclosed. All these pathological symptoms, which were reversed on fructose free diet, were caused by hereditary fructose intolerance.

Afibrinogenemia↗
PubMed1974

[Tyrosinosis].

Explore the source record for details and available documents.

Amino Acid Metabolism, Inborn Errors↗