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

Outcomes of SARS-CoV-2 infection among children and young people with pre-existing rheumatic and musculoskeletal diseases

OBJECTIVES: Some adults with rheumatic and musculoskeletal diseases (RMDs) are at increased risk of COVID-19-related death. Excluding post-COVID-19 multisystem inflammatory syndrome of children, children and young people (CYP) are overall less prone to severe COVID-19 and most experience a mild or asymptomatic course. However, it is unknown if CYP with RMDs are more likely to have more severe COVID-19. This analysis aims to describe outcomes among CYP with underlying RMDs with COVID-19. METHODS: Using the European Alliance of Associations for Rheumatology COVID-19 Registry, the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry, and the CARRA-sponsored COVID-19 Global Paediatric Rheumatology Database, we obtained data on CYP with RMDs who reported SARS-CoV-2 infection (presumptive or confirmed). Patient characteristics and illness severity were described, and factors associated with COVID-19 hospitalisation were investigated. RESULTS: 607 CYP with RMDs <19 years old from 25 different countries with SARS-CoV-2 infection were included, the majority with juvenile idiopathic arthritis (JIA; n=378; 62%). Forty-three (7%) patients were hospitalised; three of these patients died. Compared with JIA, diagnosis of systemic lupus erythematosus, mixed connective tissue disease, vasculitis, or other RMD (OR 4.3; 95% CI 1.7 to 11) or autoinflammatory syndrome (OR 3.0; 95% CI 1.1 to 8.6) was associated with hospitalisation, as was obesity (OR 4.0; 95% CI 1.3 to 12). CONCLUSIONS: This is the most significant investigation to date of COVID-19 in CYP with RMDs. It is important to note that the majority of CYP were not hospitalised, although those with severe systemic RMDs and obesity were more likely to be hospitalised

Outcomes of SARS-CoV-2 infection among children and young people with pre-existing rheumatic and musculoskeletal diseases.

OBJECTIVES: Some adults with rheumatic and musculoskeletal diseases (RMDs) are at increased risk of COVID-19-related death. Excluding post-COVID-19 multisystem inflammatory syndrome of children, children and young people (CYP) are overall less prone to severe COVID-19 and most experience a mild or asymptomatic course. However, it is unknown if CYP with RMDs are more likely to have more severe COVID-19. This analysis aims to describe outcomes among CYP with underlying RMDs with COVID-19. METHODS: Using the European Alliance of Associations for Rheumatology COVID-19 Registry, the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry, and the CARRA-sponsored COVID-19 Global Paediatric Rheumatology Database, we obtained data on CYP with RMDs who reported SARS-CoV-2 infection (presumptive or confirmed). Patient characteristics and illness severity were described, and factors associated with COVID-19 hospitalisation were investigated. RESULTS: 607 CYP with RMDs <19 years old from 25 different countries with SARS-CoV-2 infection were included, the majority with juvenile idiopathic arthritis (JIA; n=378; 62%). Forty-three (7%) patients were hospitalised; three of these patients died. Compared with JIA, diagnosis of systemic lupus erythematosus, mixed connective tissue disease, vasculitis, or other RMD (OR 4.3; 95% CI 1.7 to 11) or autoinflammatory syndrome (OR 3.0; 95% CI 1.1 to 8.6) was associated with hospitalisation, as was obesity (OR 4.0; 95% CI 1.3 to 12). CONCLUSIONS: This is the most significant investigation to date of COVID-19 in CYP with RMDs. It is important to note that the majority of CYP were not hospitalised, although those with severe systemic RMDs and obesity were more likely to be hospitalised

Protection of whistleblowers

Protection of whistleblowers Abstract This diploma thesis deals with whistleblowing and related protection of whistleblowers. The author set herself the goal of analyzing and evaluating the newly adopted Whistleblower Protection Act and to analyze in detail its selected institutes. During the evaluation of advantages and disadvantages of previously mentioned legal regulation and the evaluation of possible practical impacts, the author reached her own conclusions, which were stated in the text of the thesis. The introductory chapter introduces the concept of whistleblowing, the historical background and the connection with the issue of employee loyalty. At the same time, this part of the thesis provides an overview of relevant international legislation and case law. In order to understand the broader context, the thesis further examines the wording of the European Directive as defining a comprehensive and detailed regulatory framework for all EU Member States and discusses some of its substantive provisions. The thesis also provides an overview of the development of legislation in this area in the Czech Republic, including the search for a path to the adoption of the Act. Following this, the main part of the thesis discusses in more detail selected legal institutes of the Act that have been discussed as..

The analysis of viability of the low-cost bank and its comparision with the classical bank institution

Diplomová práce se zabývá analýzou hospodaření nízkonákladových bank. Cílem bylo poukázat na oblasti, ve kterých se výrazně liší nízkonákladové banky od klasické bankovní instituce. Analyzována byla také struktura nabízených produktů jednotlivými bankami. Záměrem srovnání bylo zdůraznit šíři nabídky a zejména výhodnost těchto produktů pro klienta, ať už z pohledu úročení, či z pohledu nákladů pro uživatele. Práce se zaměřuje i na samotné postavení těchto bank na českém trhu. V rámci této oblasti lze pozorovat, jak tyto banky za dobu svého působení na trhu změnily svoji podobu.The thesis deals with the analysis of the low-cost bank economy. The goal of the work was showing the areas, where low-cost banks differ significantly from classical bank institutions. The structure of the offered products by single banks was analyzed as well. The target of comparison was the emphasis of the range of offer and mainly the advantages of these products for the client both from the angle of the interest and from the angle of the user costs. The thesis aims at standing of these banks in the Czech market as well. We can see how these banks have changed their character during their operation in the market

Protection of whistleblowers

Ochrana oznamovatelů Abstrakt Tato diplomová práce pojednává o oznamování - whistleblowingu a s ním související ochranou oznamovatelů. Autorka si vytyčila za cíl zanalyzovat a zhodnotit nově přijatý Zákon o ochraně oznamovatelů a detailněji rozebrat především jeho vybrané instituty. Při hodnocení výhod a nevýhod právní úpravy a vyhodnocování možných praktických dopadů došla k některým vlastním závěrům, které v textu práce uvedla. V úvodní kapitole je představen pojem oznamování, historická východiska a zároveň přiblížena souvislost s otázkou loajality zaměstnance. Současně je v této části práce uveden přehled relevantní mezinárodní úpravy a judikatury. Pro pochopení širších souvislostí se práce dále zabývá zněním evropské Směrnice, jakožto vymezením komplexního a detailního rámce úpravy pro všechny členské státy Evropské unie a rozebírá některá její podstatná ustanovení. Práce dále obsahuje rovněž přehled vývoje právní úpravy v této oblasti v České republice, včetně hledání cesty k přijetí Zákona. V návaznosti na to jsou ve stěžejní části práce podrobněji rozebrané vybrané právní instituty Zákona, které byly diskutovány jako problematické a současně je zde nastíněn názor a hodnocení autorky, včetně dílčích závěrů k jednotlivým tématům. V závěru jsou uvedena shrnutí postřehů a poznatků k nové právní úpravě....Protection of whistleblowers Abstract This diploma thesis deals with whistleblowing and related protection of whistleblowers. The author set herself the goal of analyzing and evaluating the newly adopted Whistleblower Protection Act and to analyze in detail its selected institutes. During the evaluation of advantages and disadvantages of previously mentioned legal regulation and the evaluation of possible practical impacts, the author reached her own conclusions, which were stated in the text of the thesis. The introductory chapter introduces the concept of whistleblowing, the historical background and the connection with the issue of employee loyalty. At the same time, this part of the thesis provides an overview of relevant international legislation and case law. In order to understand the broader context, the thesis further examines the wording of the European Directive as defining a comprehensive and detailed regulatory framework for all EU Member States and discusses some of its substantive provisions. The thesis also provides an overview of the development of legislation in this area in the Czech Republic, including the search for a path to the adoption of the Act. Following this, the main part of the thesis discusses in more detail selected legal institutes of the Act that have been discussed as...Katedra pracovního práva a práva sociálního zabezpečeníDepartment of Labor Law and Social Security LawPrávnická fakultaFaculty of La

Analýza přímého bankovnictví v ČR se zaměřením na nízkonákladové banky

The bachelor work deals with single types of the direct banking in Czech Republic. I analysed both the working way of electronic (direct) banking and the security of these systems. I dealt with the low-cost banks as well and their cooperation with the classical banks. The purpose of the analysis was to determine the main differences in the direct banking of the chosen institutions mainly from the point of view of clients, customers' comfort, range of offer and the security of services. Another part of the work deals with the position of the low-cost banks on the Czech market and their development in the future

Clubes recreativos: identidades e conflitos entre os trabalhadores paulistanos (1900-1920)

http://dx.doi.org/10.5007/1984-9222.2011v3n5p233Este artigo analisa alguns dos clubes recreativos fundados e freqüentados pelos trabalhadores da cidade de São Paulo no início do século XX. Além do lazer, os referidos clubes ofereciam acesso à cultura letrada, à informação e auxílios para os associados. Dessa maneira, são espaços privilegiados para a análise do processo de formação da classe trabalhadora da cidade