Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing.

The deficiency of natural anticoagulants—antithrombin (AT), protein C (PC), and protein S (PS)—is a highly predisposing factor for thrombosis, which is still underdiagnosed at the genetic level. We aimed to establish and evaluate an optimal diagnostic approach based on a high-throughput sequencing platform suitable for testing a small number of genes. A fast, flexible, and efficient method involving automated amplicon library preparation and target sequencing on the Ion Torrent platform was optimized.

The logic of categorisation in sport.

The aim of this paper is to examine the basis of eligibility rules in sport by exhibiting the logic of categorisation, with its associated ethical problems. We shall be concerned mainly with pre-competition categories - age, sex, weight and dis/ability - because they are directly relevant to sports performance and are relatively stable inequalities. We shall prefer to use the term "categorisation", although we mean by it just what others might mean by classification, to refer to divisions, classes, groups, etc.

[Clinical progression of the first wave of novel coronavirus infection in Ostrava].

Objectives: The first case of coronavirus infection in the Moravian-Silesian Region was diagnosed on March 12, 2020. The study aimed to describe the first wave and clinical manifestation of the coronavirus epidemic at the Department of Infectious Diseases in Ostrava.

Material And Methods: The sample comprised a total of 195 patients requiring hospitalization at the Department of Infectious Diseases in Ostrava between March 1 and August 31, 2020.

[Epidemiology and risk factors in legionellosis].

Legionella was discovered in the first half of the 20th century. The main representative of the genus is the bacterial species Legionella pneumophila. Legionella can cause a mild disease with fever but also severe to fatal pneumonia.