Reporting LDL cholesterol results by clinical biochemistry laboratories in Czechia and Slovakia to improve the detection rate of familial hypercholesterolemia

IntroductionThis survey aims to assess the implementation of recommendations from the European Atherosclerosis Society (EAS) and the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) by clinical biochemistry laboratories in Czechia and Slovakia in their policies for reporting low-density lipoprotein cholesterol (LDL-C) concentrations. Materials and methodsThe web-based survey was distributed to all 383 Czech and Slovak clinical biochemistry laboratories that measure lipids by external quality assessment provider SEKK. A total of 17 single-answer questions were included. The questionnaire was focused on the detection and decision points in familial hypercholesterolemia (FH). All survey answers were taken into account. The laboratories followed the EFLM and EAS guidelines when they reported an interpretative comment considering FH diagnosis in adults. ResultsA total of 203 (53%) laboratories answered. Only 5% of laboratories added interpretative comments considering FH diagnosis when LDL-C concentrations are above 5.0 mmol/L in adults, and 3% of laboratories added interpretative comments considering FH diagnosis when LDL-C concentrations are above 4.0 mmol/L in children. Only 7% of laboratories reported goals for all cardiovascular risk categories (low, moderate, high, very high). Non-HDL cholesterol concentrations were calculated by 74% of responders. A significant number (51%) of participants did not measure apolipoprotein B, and 59% of laboratories did not measure lipoprotein(a). ConclusionsOnly a small portion of laboratories from Czechia and Slovakia reported high LDL-C results with interpretative comments considering FH diagnosis in adults, the laboratories did not follow the guidelines

Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia

<p>Abstract</p> <p>Background</p> <p>Mutations in the <it>LDLR </it>gene are the most frequent cause of Familial hypercholesterolemia, an autosomal dominant disease characterised by elevated concentrations of LDL in blood plasma. In many populations, large genomic rearrangements account for approximately 10% of mutations in the <it>LDLR </it>gene.</p> <p>Methods</p> <p>DNA diagnostics of large genomic rearrangements was based on Multiple Ligation dependent Probe Amplification (MLPA). Subsequent analyses of deletion and duplication breakpoints were performed using long-range PCR, PCR, and DNA sequencing.</p> <p>Results</p> <p>In set of 1441 unrelated FH patients, large genomic rearrangements were found in 37 probands. Eight different types of rearrangements were detected, from them 6 types were novel, not described so far. In all rearrangements, we characterized their exact extent and breakpoint sequences.</p> <p>Conclusions</p> <p>Sequence analysis of deletion and duplication breakpoints indicates that intrachromatid non-allelic homologous recombination (NAHR) between <it>Alu </it>elements is involved in 6 events, while a non-homologous end joining (NHEJ) is implicated in 2 rearrangements. Our study thus describes for the first time NHEJ as a mechanism involved in genomic rearrangements in the <it>LDLR </it>gene.</p

Clinical Biochemistry

Učebnice Clinical Biochemistry ve svých 39 kapitolách pokrývá všechna důležitá témata moderní klinické biochemie. Od preanalytických vlivů na laboratorní vyšetření přes analytické a klinické vlastnosti metod, kontrolu kvality v klinické laboratoři, automatizaci po jednotlivé indikace a interpretace laboratorních testů v diagnostice a sledování různých onemocnění. Cílem je dovést čtenáře k propojení všech aspektů ovlivňujících laboratorní výsledek a jejich kritickému zhodnocení při péči o pacienta. Text je určen především pro pregraduální studenty všeobecného lékařství, avšak jako referenční příručku ji využijí i začínající lékaři všech oborů. Clinical Biochemistry textbook covers in its 39 chapters all important topics of modern clinical biochemistry. From preanalytical influences to laboratory results through analytical and clinical properties of laboratory methods, quality control in Clinical laboratory, automation to indication and interpretation of laboratory tests in diagnosis and follow up of a plenty of diseases. The goal of this publication is to lead a reader to intersection of all aspects that influence laboratory results and to its critical evaluation in taking care about a patient. The text is designed to pregradual students of general medicine. However, also young medical doctors of all medical specializations can use the textbook as a reference guide

Clinical Biochemistry

Učebnice Clinical Biochemistry ve svých 39 kapitolách pokrývá všechna důležitá témata moderní klinické biochemie. Od preanalytických vlivů na laboratorní vyšetření přes analytické a klinické vlastnosti metod, kontrolu kvality v klinické laboratoři, automatizaci po jednotlivé indikace a interpretace laboratorních testů v diagnostice a sledování různých onemocnění. Cílem je dovést čtenáře k propojení všech aspektů ovlivňujících laboratorní výsledek a jejich kritickému zhodnocení při péči o pacienta. Text je určen především pro pregraduální studenty všeobecného lékařství, avšak jako referenční příručku ji využijí i začínající lékaři všech oborů. Clinical Biochemistry textbook covers in its 39 chapters all important topics of modern clinical biochemistry. From preanalytical influences to laboratory results through analytical and clinical properties of laboratory methods, quality control in Clinical laboratory, automation to indication and interpretation of laboratory tests in diagnosis and follow up of a plenty of diseases. The goal of this publication is to lead a reader to intersection of all aspects that influence laboratory results and to its critical evaluation in taking care about a patient. The text is designed to pregradual students of general medicine. However, also young medical doctors of all medical specializations can use the textbook as a reference guide