Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder. Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines, and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular and gene therapies. Duchenne Muscular Dystrophy will be essential reading not only for scientists and clinicians, but will also appeal to therapists and other professionals involved in the care of patients with muscular dystrophy.
Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder. Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines, and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular and gene therapies. Duchenne Muscular Dystrophy will be essential reading not only for scientists and clinicians, but will also appeal to therapists and other professionals involved in the care of patients with muscular dystrophy.
In the first two years of life, several important and interlinked neurological functions develop; this is a decisive developmental period. Neurological disorders arising in early childhood therefore require special attention and should be defined precisely. To be understood and managed correctly, these disorders (epilepsy, cerebral lesions, tumours, nerve damage, etc.) must be considered as a whole. By compartmentalizing the disorders and only focusing on a certain number of them, physicians run the risk of neglecting others which could have been useful in reaching a more accurate diagnosis. Written by neuropaediatricians with the aim of sharing their knowledge, this book is the only one of its kind to date to explore, in such detail, all the factors which have the potential to perturb neurological development.
Interaction and mobility have attracted much interest in research within scholarly fields as different as archaeology, history, and more broadly the humanities. Critically assessing some of the most widespread views on interaction and its social impact, this book proposes an innovative perspective which combines radical social theory and currently burgeoning network methodologies. Through an in-depth analysis of a wealth of data often difficult to access, and illustrated by many diagrams and maps, the book highlights connections and their social implications at different scales ranging from the individual settlement to the Mediterranean. The resulting diachronic narrative explores social and economic trajectories over some seven centuries and sheds new light on the broad historical trends affecting the life of people living around the Middle Sea. The Bronze Age is the first period of intense interaction between early state societies of the Eastern Mediterranean and the small-scale communities to the west of Greece, with people and goods moving at a scale previously unprecedented. This encounter is explored from the vantage point of one of its main foci: Apulia, located in the southern Adriatic, at the junction between East and West and the entryway of one of the major routes for the resource-rich European continent.
Benvenuto Olivieri was a Florentine banker active in Rome during the first half of the sixteenth century. A self made man without any great family patrimony, he rose to prominence during the pontificate of Pope Paul III, becoming involved with a variety of papal enterprises which allowed him to get to the heart of the mechanisms governing the papal finances. Amassing a considerable fortune along the way, Olivieri soon built himself a role as co-ordinator of the appalti (revenue farms) and became one of the most powerful players in the complex network that connected bankers and the papal revenue. This book explores the indissoluble link that had developed between the papacy and bankers, illuminating how the Apostolic Chamber, increasingly in need of money, could not meet its debts, without farming out the rights to future income. Utilising documents from a rich corpus of unpublished sources in Florence and Rome, Guidi Bruscoli unravels the web of financial connections that bound together Florentine and Genoese bankers with the papacy, and looks at how money was raised and the appalti managed.
This Brief provides a concise review of chaperonopathies, i.e., diseases in which molecular chaperones play an etiologic-pathogenic role. Introductory chapters deal with the chaperoning system and chaperoning teams and networks, HSP-chaperone subpopulations, the locations and functions of chaperones, and chaperone genes in humans. Other chapters present the chaperonopathies in general, including their molecular features and mechanistic classification into by defect, excess, or mistake. Subsequent chapters discuss the chaperonopathies in more detail, focusing on their distinctive characteristics: primary or secondary; quantitative and/or qualitative; structural and hereditary or acquired; genetic polymorphisms; gene dysregulation; age-related; associated with cancer, chronic inflammatory conditions, and autoimmune diseases. The interconnections between the chaperoning and the immune systems in cancer development, chronic inflammation, autoimmunity, and ageing are outlined, which leads to a discussion on the future prospects of chaperonotherapy. The latter may consist of chaperone gene and protein replacement/supplementation in cases of deficiency and of gene or protein blocking when the chaperone actively promotes disease. The last chapter presents the extracellular chaperones and details on how the chaperone Hsp60 is secreted into the extracellular space and, thus, appears in the blood of cancer patients with potential to participate in carcinogenesis and chronic inflammation and autoimmunity. Chaperones as clinically useful biomarkers are mentioned when pertinent. Likewise, guidelines for clinical evaluation of chaperonopathies and for their histopathological and molecular identification are provided throughout. The book also provides extensive bibliography organized by chapter and topic with comments.
The 1960s and the 1970s marked a generational shift in architectural discourse at a time when the revolts inside universities condemned the academic institution as a major force behind the perpetuation of a controlling society. Focusing on the crisis and reform of higher education in Italy, The University as a Settlement Principle investigates how university design became a lens for architects to interpret a complex historical moment that was marked by the construction of an unprecedented number of new campuses worldwide. Implicitly drawing parallels with the contemporary condition of the university under a regime of knowledge commodification, it reviews the vision proposed by architects such as Vittorio Gregotti, Giuseppe Samonà, Archizoom, Giancarlo De Carlo, and Guido Canella, among others, to challenge the university as a bureaucratic and self-contained entity, and defend, instead, the role of higher education as an agent for restructuring vast territories. Through their projects, the book discusses a most fertile and heroic moment of Italian architectural discourse and argues for a reconsideration of architecture’s obligation to question the status quo. This work will be of interest to postgraduate researchers and academics in architectural theory and history, campus design, planning theory, and history.
The prognosis for individuals with Duchenne Muscular Dystrophy (DMD) is improving, with some men with DMD living into their 30s and 40s. More vital than ever, this book helps teachers and parents to support children and young people with DMD with their education and transition into adulthood. Leading experts on DMD explain Duchenne and its impact in easy-to-understand terms. Going beyond physical management, particular focus is put on learning and behavioural issues, including speech delay and difficulty learning to read, as well as common comorbid conditions, such as ADHD, autism and OCD. Raising aspirations, the book gives guidance on effective support in the classroom and advice on the transition to adulthood, employment and independent living.
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