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Biomedical subjects

A Mrskos

Publications and source records attributed to A Mrskos.

At least 19 recordsLinked to original sources
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↗
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].

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Amino Acid Metabolism, Inborn Errors↗