Charcot–Marie–Tooth neuropathy (CMT) is a group of genetically heterogeneous disorders sharing a similar phenotype, characterized by wasting and weakness mainly involving the distal muscles of lower and upper limbs, variably associated with distal sensory loss and skeletal deformities. This chapter deals with dominantly transmitted CMT and related disorders, namely hereditary neuropathy with liability to pressure palsies (HNPP) and hereditary neuralgic amyotrophy (HNA). During the last 20 years, several genes have been uncovered associated with CMT and our understanding of the underlying molecular mechanisms has greatly improved. Consequently, a precise genetic diagnosis is now possible in the majority of cases, thus allowing proper genetic counseling. Although, unfortunately, treatment is still unavailable for all types of CMT, several cellular and animal models have been developed and some compounds have proved effective in these models. The first trials with ascorbic acid in CMT type 1A have been completed and, although negative, are providing relevant information on disease course and on how to prepare for future trials.
This concise but comprehensive book will help interested readers in the health care professions to navigate their way through the jungle of movement disorders, including the potentially complex differential diagnosis and management. The different disorders are discussed in individual sections that explain how to examine the patient and recognize the disorder from its basic phenomenology, how to confirm a diagnosis, how to distinguish a particular disorder from related conditions, and how to treat each disorder effectively. The book makes liberal use of diagrams, algorithms, tables, summary boxes, and illustrations to facilitate solution of clinical problems at the bedside and to solidify previously learned clinical and therapeutic concepts. It will be of interest to a broad audience of health professionals, scientists, and medical students.
The regeneration of critical urban areas through the redesign of public space with the intense involvement of local communities seems to be the central focus of place-making according to some widespread practices in academic and professional circles. Recently, new expertise maintains that place-making could be an innovative and potentially autonomous field, competing with more traditional disciplines like urban planning, urban design, architecture and others. This book affirms that the question of 'making better places for people' should be understood in a broader sense, as a symptom of the non-contingent limitations of the urban and spatial disciplines. It maintains that research should not be oriented only towards new technical or merely formal solutions but rather towards the profound rethinking of disciplinary paradigms. In the fields of urban planning, urban design and policy-making, the challenge of place-making provides scholars and practitioners a great opportunity for a much-needed critical review. Only the substantial reappraisal of long-standing (technical, cultural, institutional and social) premises and perspectives can truly improve place-making practices. The pressing need for place-making implies trespassing undue disciplinary boundaries and experimenting a place-based approach that can innovate and integrate planning regulations, strategic spatial visioning and urban development projects. Moreover, the place-making challenge compels urban experts and policy-makers to critically reflect upon the physical and social contexts of their interventions. In this sense, facing place-making today is a way to renew the civic and social role of urban planning and urban design.
This work explores the relationship among knowing, learning, and practice in the development of organizational knowledge. It explores the implications for intervention growing out of the notion that organizational knowledge cannot be conceived as a mental process residing in members' heads.
The publication proposes to investigate the arts from the inside, namely, their common foundations: the rules for artistic creation, the processes that involve artists in their activities, the forms that they can achieve. An inquiry about art-making and artistic practices.
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