[The hypercholesterolemias in pregnancy: their etiology and diagnostic significance considerations].

Objective: Analysis of gestational hypercholesterolemia incidence in Prague population of healthy pregnant women. Diagnostic significance of non-cholesterol sterols as suitable markers of endogenous synthesis and intestinal absorption in etiology of gestational hypercholesterolemia.

Design: Retrospective study.

Vascular presentation of cystathionine beta-synthase deficiency in adulthood.

Several recent studies describing a solely vascular presentation of cystathionine beta-synthase (CBS) deficiency in adulthood prompted us to analyze the frequency of patients manifesting with vascular complications in the Czech Republic. Between 1980 and 2009, a total of 20 Czech patients with CBS deficiency have been diagnosed yielding an incidence of 1:311,000. These patients were divided into three groups based on symptoms leading to diagnosis: those with vascular complications, with connective tissue manifestation and with neurological presentation.

Moderate hyperhomocysteinemia in patients treated for epilepsy.

Homocystein (Hcy) is regarded as a neuroexcitatory substance, which is therefore used as an epileptogenic agent in experimental epileptology. Experiments "in vivo" as well as "in vitro" revealed its relation to NMDA glutamate receptors, and its potential neurotoxicity. From the clinical aspect, hyperhomocysteinemia (HHcy), mostly as a marker of the risk factor in the vascular damage, was often studied in patients treated with antiepileptic drugs (AE).

Maternal hyperphenylalaninemias in healthy Czech population of pregnant women: 30 years experience with screening, prevention and treatment.

Introduction: The increased level of phenylalanine (Phe) in maternal blood--hyperphenylalaninemia (mHPA) has a detrimental effect on the early development of healthy foetus (1965). The toxic effect causes spontaneous abortion or retards intrauterine growth, skeletal malformation, cardiac anomalies can appear. However the most frequent are microcephaly, mental retardation and hypotrophy.

Genetic determinants of folate status in Central Bohemia.

Although several genetic factors have been implicated as determinants of blood folate concentration in various populations, their effect on folate status in the Czech population has not yet been examined. We explored whether blood folate concentrations in healthy Czech population are associated with polymorphisms in 5,10-methylenetetrahydrofolate reductase (MTHFR), folate hydrolase 1 (FOLH1), reduced folate carrier (RFC), and folate receptor (FOLR1) genes. In a cross-sectional study of 591 control subjects we determined genotypes by PCR-RFLP or ARMS-PCR methods, and plasma and erythrocyte folates by MEIA.

Significance of lipopolysaccharide-binding protein (an acute phase protein) in monitoring critically ill patients.

Introduction: The present study was conducted to assess the value of serum concentration of lipopolysaccharide-binding protein (LBP) in patients with systemic inflammatory response syndrome (SIRS), sepsis and septic shock with respect to its ability to differentiate between infectious and noninfectious etiologies in SIRS and to predict prognosis.

Methods: This prospective cohort study was conducted in a multidisciplinary intensive care unit. Sixty-eight patients, admitted consecutively to the intensive care unit and who met criteria for SIRS, sepsis or septic shock were included.

Complete proteinogram of cerebrospinal fluid and its contribution to the diagnostics of inflammatory and autoimmune diseases of the central nervous system.

Complete evaluation of cerebrospinal fluid proteinogram represents a routine request of the clinician in the analysis of CSF in the Czech Republic. It comprises the measurement of concentrations of acute phase proteins (CRP, orosomucoid, haptoglobin, transferrin, prealbumin), immunoglobulins (IgG, IgA, IgM), compressive markers (albumin, fibrinogen), markers of CNS tissue destruction (apolipoproteins A-I, A-II, Apo B), complement components (C3, C4), alpha-1-microglobulin, beta-2-microglobulin, and proteinase inhibitors (alpha-1-antitrypsin, antithrombin III). Therefore, 19 CSF proteins of precisely verified clinical relevance are routine parameters for the assessment of the functional state of the blood-CSF barrier, presence of the intrathecal synthesis of immunoglobulins, inflammatory changes and verification of CNS tissue destruction.

[Homocysteinemia and ovariectomy--initial experience with functional monitoring].

Objective: Metabolic study on plasmatic levels of homocysteine (Hcy) in 30 women post ovarectomy suffering from benign diseases. Based on previous pilot study by 6 women patients after ovarectomy the Hcy level increase has been supposed. Further objective was to detect possible change of homocysteinemia after application of estrogen replacement therapy (ERT).

[Anthropologic study of women with hyperphenylalaninemia].

Objective: Anthropometric investigation in women with hyperphenylalaninemia.

Design: Retrospective clinical study.

Setting: Department of Obstetrics and Gynecology and Institute of Inherited Metabolic Disorders of General Faculty Hospital and 1st Medical Faculty of Charles University in Prague, Department of clinical Biochemistry, Hematology and Immunology of Hospital Na Homolce in Prague.

Essential hypertension in adolescents: association with insulin resistance and with metabolism of homocysteine and vitamins.

Background: Although insulin resistance and elevated plasma homocysteine are associated with hypertension in adults, the role of these conditions in the initial phase of hypertension is largely unknown. We examined whether insulin resistance and disturbed homocysteine metabolism are present in young adults at the early stages of essential hypertension.

Methods: We measured physical characteristics, plasma levels of insulin, lipids, total homocysteine, and vitamins in 164 patients with essential juvenile hypertension (median age, 19 years; 92% males) and in 173 controls (median age, 18 years; 66% males).

[Sexual life of women with hyperphenylalaninemia].

Objective: Characteristics of sexual life in women with hyperphenylalaninemia.

Design: Anamnestic study.

Setting: Department of Obstetrics and Gynaecology and Institute of Inherited Metabolic Disorders of General Faculty Hospital and 1st Medical Faculty of Charles University in Prague, Department of Clinical Biochemistry, Haemathology and Immunology of Hospital Na Homolce in Prague.

[Clinical picture of homocystinuria with cystathionine beta-synthase deficiency in 19 Czech and Slovak patients].

Background: Homocystinuria due to cystathionine beta-synthase deficiency is an autosomal recessive disorder of methionine metabolism. It manifests with vascular, central nervous system and connective tissue disturbances, and phenotypically resembles Marfan's syndrome. We analysed the clinical course of homocystinuria in Czech and Slovak patients.

[Homocysteinemia--its significance in gynecology and obstetrics].

Objective: Metabolic study on plasmatic levels of homocysteine (Hcy) in healthy women during normal or pathological pregnancy accompanied with corresponding levels of Hcy in amniotic fluid and foetal sera. Increased levels of Hcy--hyperhomocysteinaemia is respected as an independent risk factor accelerating the early development of vessel damage and causing the neural tube defects (NTD).

Design: Basic study to get our own data about Hcy in Czech healthy and population at risk of pregnant and non-pregnant women.

[Lysosomal acid lipase deficiency. Overview of Czech patients].

Lysosomal lipase deficiency is a hereditary autosomal recessive enzymopathy leading to lysosomal storage of triacylglycerols (TAG) and cholesterol esters (CE). In particular cells with a permanently high receptor-mediated LDL endocytosis are affected (liver, kidneys). There are two basic phenotypes.

Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer.

Few cases of asymptomatic cholesteryl ester storage disease (CESD) due to low enzymatic activity of human lysosomal acid lipase/cholesteryl ester hydrolase (hLAL) have been reported thus far in adults Here, we describe a 51-year-old man with a long clinical history of mixed hyperlipoproteinemia and severe premature atherosclerosis, but with no signs of hepatomegaly, liver dysfunction, or splenomegaly. The disease was discovered by chance in a biopsy performed because of suspected liver cancer (proven to be a cholangiocarcinoma). Residual hLAL activity in peripheral leukocytes was determined to be 6% of control values.

Statistical approaches for evaluation of genetic risk factor of peripheral arterial occlusive disease.

In the paper we show results of medical study from statistical point of view. The medical study was aimed to study genetic risk factors of peripheral arterial occlusive diseases in Czech population. Two genes, CBS and MTHFR were examined, as various genotypes of these genes are thought to have impact on amino thiols, who participate in variety of reactions in vasculature.

[Diagnostic significance of mild hyperhomocysteinemia in a population of children with parents or grandparents who have peripheral or coronary artery disease].

Background: A rise of the homocysteine plasma level--mild hyperhomocysteinaemia--is considered an independent risk factor for the development of vascular damage. It is due to hereditary deficiency of 5,10-methylene-tetrahydrofolate reductase with accentuation of vitamin deficiency (folic acid, vitamin B6 and B12). In previous studies the authors confirmed this fact in the population of patients with aortocoronary or peripheral arterial bypasses.

Intellectual and school performance in adolescents with phenylketonuria according to their dietary compliance. The Czech-Slovak Collaborative Study.

The intellectual development and school performance of 81 adolescents with hyperphenylalaninaemia type I between the ages 15 and 19 years were evaluated in a retrospective study. All adolescents were born between 1975-1979. In spite of the continuous changes and improvement of dietary treatment, there were no differences in the dietary approach in all phenylketonuria centres involved.

[Maternal hyperphenylalaninemia in a population of healty Czech women. 18 years' experience with mass screening, diet therapy and metabolic monitoring].

Background: Elevated phenylalanine levels in maternal blood (hyperphenylalaninaemia) during pregnancy damages the developing foetal tissues. Early detection of pregnant women with hyperphenylalaninaemia and adherence to a low phenylalanine diet already before conception and throughout pregnancy can prevent this damage. The objective of the investigation are results achieved screening and strict monitoring of low phenylalanine dietetic treatment in detected pregnant women of the Prague population.

Analysis of growth curves of fowl. III. Geese.

1. Growth curves of two lines (S,D) and their reciprocal hybrids (in total,. n = 344) were evaluated by the Richards function.