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

Olympism with respect to the Intellectual Property law

Olympism with respect to the Intellectual Property law Intellectual property is a branch of law affecting, with various intensity, a lot of fields of human life and, together with technical development and globalisation of human life, is becoming more and more topical, which, vice versa, implicates an intensive development of the branch of law itself. Olympism is a traditional concept evoking sports ideas, profound experience of performance based on physical and mental preparedness and capacity, emotions and in a way also a life philosophy and intellectual values, but also, more and more, a significant economic factor. This thesis is based on a strong respect to both of these concepts, namely to the intellectual property and to the branch of law studying this field, analysing and developing it, and to the Olympism and its persisting undisputable sense and effect, and on the conviction about coherence of these notions both in terms of law and in terms of ordinary human life. The aims of this thesis is to set up a basic outline and to determine conceptual features of each of these both institutes especially, and, after that, to present basic forms and methods of their coherence. In this connection it was also necessary to examine the legal protection of both of these institutes, both at the national..

Men's Mammography Specialities

Every male patient coming for a breast examination has already experienced some problems with the breast. In most cases they relate to the enlargement of the mammary gland ? gynaecomastia, and less often a tumour. Breast carcinoma represents only a small part of tumours among the male population with an incidence of approximately 44 new patients per year, which is less than 1% (exactly 0.13%) of malign tumours. Mammography of male patients is usually performed in the basic standard projections ? mediolateral and craniocaudal. Generally it is possible to perform other projections (but this is very rare) ? lateral and caudocranial. The mediolateral ? transversal ? projection is usually satisfactory in male patients. Due to the anatomical structure of the male breast a hands-on examination is also very important in the diagnostics of the male mammary gland. Mammographic examination is not the first-choice method. Just ultrasound examination or just mammography is satisfactory in many cases. This situation is different in female patients where mammography is the first-choice method, followed by ultrasound and biopsy in the same medical workplace. In men, mammographic or ultrasound examination can be just auxiliary to determine staging. Every workplace may perform different routines and methods in male mammographic examination. However, all these examinations should be characterised by high quality and best possible diagnostic information, professional approach of the staff, and mainly the effort to improve long-established procedures