Mortality benefit of primary transportation to a PCI-capable center persists through an eight-year follow-up in patients with ST-segment elevation myocardial infarction.

Background: The purpose of this study was to compare long-term outcomes of primary transport (PT) and secondary transport (ST) in patients with STEMI.

Method: We assigned consecutive 869 patients referred for STEMI during a 2-year period (2008-2009). The primary endpoint was to compare long-term outcomes and mortality of PT to a catheterization laboratory and ST from regional hospitals to a catheterization laboratory.

Churg-Strauss syndrome in childhood: a case report.

Churg-Strauss syndrome is a rare form of small-vessel vasculitis. In the current report, we describe the case of a 17-year-old Czech girl predominantly characterized by peripheral neuropathy, the presence of cardiac and pulmonary involvement, hypereosinophilia, asthma, and sinusitis that led to the diagnosis of Churg-Strauss syndrome.

Microheterogeneity of some serum glycoproteins in neurodegenerative diseases.

Background: Participation of protein polymorphism is often considered in the pathogenesis of various diseases. Aberrant protein glycosylation has been recognized to play major roles in human disorders, including neurodegenerative diseases.

Objective: The aim of the study was to examine possible involvement of protein genetic variants and degree of glycosylation of some serum glycoproteins in the manifestation of neurodegenerative disorders in a Czech population sample.

Amniotic fluid α-fetoprotein microheterogeneity in the prenatal diagnosis of congenital disorders of glycosylation type Ia.

Background: Congenital disorders of glycosylation are a group of clinically and biochemically diverse defects. The current screening method (based on analysis of transferrin), which is used postnatally for the most frequent types, is however not suitable for prenatal diagnosis. The aim of the study was to investigate whether alterations in the microheterogeneity of α-fetoprotein would provide more reliable results.

Transferrin D protein variants in the diagnosis of congenital disorders of glycosylation (CDG).

Congenital disorders of glycosylation are a rapidly growing group of inherited (neuro)metabolic disorders characterized by defects in glycosylation of proteins and lipids. This study discusses an analytical problem in the differentiation between hypoglycosylation and transferrin (Tf) protein variants. Analysis of serum Tf by isoelectric focusing is used as a common method suitable for screening 19 out of a total of 22 types of glycosylation defects identified so far.

Screening and diagnosis of congenital disorders of glycosylation.

The aim of this paper is to review the diagnostics of congenital disorders of glycosylation (CDG), an ever expanding group of diseases. Development delay, neurological, and other clinical abnormalities as well as various non-specific laboratory changes can lead to the first suspicion of the disease. Still common screening test for most CDG types, including CDG Ia, is isoelectric focusing/polyacrylamide gel electrophoresis (IEF).

Our experience with diagnostics of congenital disorders of glycosylation.

The aim of this study is to report our 3years experience with the screening of congenital disorders of glycosylation. A common isoelectric focusing method with immunofixation was used for analysis of serum transferrin and alpha1-antitrypsin, apart from several other procedures. A group of about 1000 individuals, both healthy controls and patients, mostly with signs of a metabolic disease were examined.

Pitfalls and drawbacks in screening of congenital disorders of glycosylation.

Congenital disorders of glycosylation include a group of diseases, each of them caused by different protein (mostly enzyme) impairment due to a specific gene defect. The many subtypes are classified according to clinical features, enzymology and molecular genetic analyses. Problems in diagnostics arise from the great diversity in clinical presentation, usually age-related, and different severities of individual types of these, by far underdiagnosed, diseases.

HPLC profiling of Trp-related metabolites in humans.

Screening for metabolic abnormalities of Trp has been introduced using SPE pre-treatment, TLC and/or two HPLC procedures. The excretory pattern in urine (occasionally also plasma and CSF levels) has been followed in a group of 390 children showing various symptoms of a metabolic defect and in 195 patients with skin diseases, namely those associated with photosensitivity, such as porphyria, vitiligo, alopecia, psoriasis, erythematodes, and others. Excretory abnormalities of either indican, kynurenine, 3-hydroxyanthranilic acid or indolylacryloylglycine have been occasionally combined with myopathy, seizures, liver and intestinal symptoms.