Progress In Heritable Soft Connective Tissue Diseases
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Progress in Heritable Soft Connective Tissue Diseases
Author: Jaroslava Halper
language: en
Publisher: Springer Science & Business Media
Release Date: 2014-01-18
This volume is a reference handbook focusing on diseases like Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome and other heritable soft connective tissue diseases. The book presents detailed information for both basic scientists and for clinicians seeing patients. It is also a stepping stone for new investigations and studies that goes beyond the facts about the composition and biochemistry of the connective tissue and extracellular matrix, as the authors connect individual components to specific aspects of various soft tissue disorders and to the actual or potential treatment of them. Progress in Heritable Soft Connective Tissue Diseases features very prominent physicians and scientists as contributors who bring their most recent discoveries to the benefit of readers. Their expertise will help clinicians with proper diagnosis of sometimes elusive and uncommon heritable diseases of soft connective tissues. This book also offers an update on the pathophysiology of these diseases, including an emphasis on unifying aspects such as connections between embryonic development of the different types of connective tissues and systems, and the role of TGF-beta in development and physiology of soft tissues. This new set of data explains, at least in part, why many of these disorders are interconnected, though the primary pathophysiological events, such as gene mutations, may be different for each disorder.
Progress in Heritable Soft Connective Tissue Diseases
This volume represents a substantially revised and updated 2nd edition of a reference handbook on major structural components of soft connective tissues and a whole slew of heritable diseases of soft connective tissues. The number of clearly identifiable and distinct disorders has grown somewhat since the 1st edition in 2014, e.g., Ehlers-Danlos syndrome has now 13 entities. A brand new syndrome, Meester Loeys syndrome carrying the name of Bart Loeys was added as a companion to Loeys-Dietz syndrome. Numerous variations of cutis laxa and joint mobility disorders have been discovered taking advantage of recent advancements in genetic analysis. We have acquired better understanding of pathogenesis and biochemical changes in some other, more established entities, such as Marfan and collagen VI myopathies where better management and possible treatment are on the horizon. Even in the case of connective tissue diseases in domestic animals some progress has been made. All these updates were contributed by a group of distinguished and preeminent physicians and scientists, all of them not just working in the field but making new discoveries described by them. Readers will notice that seemingly there is an overlap among many of these disorders. And indeed, many of them, if not most are interconnected because of the prominent roles of TGFβ, of fibrillin microfibrils and collagen fibril assembly (and other molecules) playing in connective tissues physiology, and by extension in pathogenesis of many disorders described in the book. What I found particularly helpful that author(s) of each chapter bring their own perspective even when described closely related mechanism of the disease. These observations should help with diagnosis and management of such cases. The first chapters are more general, concentrating more on the physiology, structure and biochemistry of normal soft tissues. That should help in better understanding of the pathophysiology. Last but not least, the chapters are very readable, more like detective stories than dry description of genetic/biochemical defects. I do hope that basic scientists and clinicians with similar and diverse interests alike will appreciate this volume and will be inspired by it to develop their research in the field.
Learning from Disease in Pets
Learning from Disease in Pets: A ‘One Health’ Model for Discovery is the first encompassing reference guide for veterinarians, researchers and physicians on conducting studies using spontaneous models of disease in animals. The study of naturally occurring disease in (pet) animals can help model our understanding of the biology, prevention and therapy of human and animal diseases. Studies of pet dogs, for instance, can aid treatment of complex medical problems such as cancer, orthopedic, cardiopulmonary, and neuro-inflammatory diseases, and zoonotic infections. Each chapter within this novel cross-species approach is contributed by a leader, or leaders, in their field of research. Using clinical trials to learn how pets with real diseases respond to therapy can lead to breakthroughs in human medicine, as well as benefiting pets suffering from otherwise debilitating illness. Despite similarities of diseases across species, there are very few spontaneous models of disease used in research compared with models where disease is induced in healthy laboratory animals. Many medical researchers and veterinarians have a multitude of questions regarding how to use naturally occurring diseases in pets for the discovery of treatments and diagnostics: this book will demonstrate how to safely make this happen. This book encourages veterinarians to build on and disseminate existing findings for the wider benefit of pets and humans. Many pets suffering from incurable illnesses may benefit from clinical trials; the book includes a section on the imperative communication styles necessary within the research environment and with clients, a compelling discussion on the ethics of using pets in veterinary clinical research, comprehensive tables of diseases that spontaneously occur in animals and humans, the regulatory requirements necessary to move therapy from benchside research to patient bedside, as well as intricate details on how to design a robust clinical study.