Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease

Background: Muckle-Wells syndrome (MWS) represents a moderate phenotype of cryopyrinopathies. Sensorineural hearing loss and AA amyloidosis belong to the most severe manifestations of uncontrolled disease. Simultaneous discovery of MWS in four generations of one large kindred has enabled us to document natural evolution of untreated disease and their response to targeted therapy.Methods: A retrospective case study, clinical assessment at the time of diagnosis and 2-year prospective follow-up using standardized disease assessments were combined.Results: Collaborative effort of primary care physicians and pediatric and adult specialists led to identification of 11 individuals with MWS within one family. Presence of p.Ala441Val mutation was confirmed. The mildest phenotype of young children suffering with recurrent rash surprised by normal blood tests and absence of fevers. Young adults all presented with fevers, rash, conjunctivitis, and arthralgia/arthritis with raised inflammatory markers. Two patients aged over 50 years suffered with hearing loss and AA amyloidosis. IL-1 blockade induced disease remission in all individuals while hearing mildly improved or remained stable in affected patients as did renal function in one surviving individual with amyloidosis.Conclusions: We have shown that severity of MWS symptoms gradually increased with age toward distinct generation-specific phenotypes. A uniform trajectory of disease evolution has encouraged us to postpone institution of IL-1 blockade in affected oligosymptomatic children. This report illustrates importance of close interdisciplinary collaboration

Tennis and its training in the tennis schools

Annotation: Title: Tennis and its training in the tennis schools The aim of my diploma work is to map the training process in the tennis schools where the young pupils are being trained and find out if they have the quality conditions for their training nowadays. I tried to determine with the aid of the specialized literature what kind of instruments the pupils have at the disposal. These and other knowledges related to the quality of the environment in the tennis schools I tried to map all over the Czech Republic. By support of the elaborated qustionnaire that I distributed to the coaches of the pupils I colected the information about the way and the quality of the training on the particular schools. In conclusion I interviewed Mrs. Stasa Matejovska the leader of the private tennis school. Detecting the concrete specifics of this school helped me to develop the questionnaire to more detailed information and to summarize my work better. Key words: tennis, tennis coaches, tennis school

The cycle and effect of zinc in the blast-furnace process

This article analyzes the eff ect of zinc in the blast furnace process and it also analysis its contents in the input and output raw materials. The results obtained in the long-term research project will be used as data here. The removal of zinc from the input raw materials is very diffi cult already in the sinter production stage. This is due to its uniform distribution in the raw materials, but also due to the fact that it does not transfer into gas phase during the sintering process. The content of Zinc compounds was experimentally measured in the lining. The quan ty of penetrated Zinc is diff erent in diff erent parts of the blast furnace. As demonstrated by the research, zinc repeatedly enters the blast furnace process, which leads to its circula on.Web of Science52220019

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families

Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our group of 9 families with HME we evaluated the clinical course of the disease and analysed molecular background using Sanger sequencing and MLPA in EXT1 and EXT2 genes. The mean age in our group of patients, when the first exostosis was recognised was 4.5 years (range 2–10 years) and the number of exostoses per one patient documented on X-ray ranged from 2 to 54. Most of the exostoses developed before the growth was completed and they were dominantly localised in the distal femurs, proximal tibia, proximal humerus and distal radius. In all patients, at least one to 8 surgeries were necessary due to complaints and local complications, but neither patient developed malignant transformation. In half of the patients, the disease resulted in short stature. DNA analyses were positive in 7 families. In five probands, different EXT1 gene mutations resulting in premature stop-codon (p.Gly124Argfs*65, p.Leu191*, p.Trp364Lysfs*11, p.Val371Glyfs*10, p.Leu490Profs*31) were found. In two probands, nonsense mutations were found in EXT2 gene (p.Val187Profs*115, p.Cys319fs*46). Five mutations have been novel and two mutations have occurred de novo in probands. Although the risk for malignant transformation is usually low, especially in patients with low number of exostoses, early diagnostics and longitudinal follow up of patients is of a big importance, because early surgery can prevent progression of secondary bone deformities