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This thoroughly revised third edition provides a comprehensive grounding on hereditary heart diseases with special emphasis on the genetic aspects of these conditions. It continues to provide the expertise that all cardiologists, clinical and molecular geneticists, and related medical professionals require to provide optimal care for patients with cardiac disease of genetic origin and for their relatives. Topics covered include the different cardiomyopathies, the primary arrhythmia syndromes and the hereditary thoracic aortic disorders. In addition other topics such as cardiac involvement in hereditary neuromuscular diseases, the clinical policy for sudden cardiac death and the possibilities of pre-implantation genetic diagnosis are included to extend the discussion. Clinical Cardiogenetics compiles current knowledge on the topic in an easy to understand reference. It provides a practical clinical primer for cardiologists, clinical geneticists, trainees and other physicians involved in the management of these patients.
The Genomic and Molecular Cardiovascular Medicine largely focuses on pertinent genomic and molecular aspects of cardiovascular medicine relevant to all levels of clinical practice, from primary care to preventive healthcare. The book also focuses on practice applications of translational genomic and molecular developments and advances that impact on cardiovascular system structure and function. Each chapter is evidence-based and comprehensive, with in-depth, cutting-edge knowledge relevant to the practice of clinical cardiology and cardiovascular surgery. The book aims to fill a major gap of knowledge resource focused on genomic and molecular aspects of contemporary cardiovascular medicine a...
I had the good fortune to work at the National Cancer Institute from 1965 to 2005. The National Cancer Institute provided an environment that permitted my curiosity to flourish. Colleagues, particularly Marston Linehan, were essential to performance of the work. The work described in this manuscript was performed during a period of rapid advances in genetics. I was able to apply my clinical training and new genetic tools to study human kidney cancer. With the support of the National Cancer Institute, I was able to canvas physicians throughout the United States and Canada for referrals of families with multiple members affected with renal cancer. I was able to visit these families in their communities and determine the clinical and genetic features of their hereditary susceptibility to renal cancer, and to bring these families to Bethesda for comprehensive examinations. Using DNA analytic tools, we were able to identify several tumor suppressor genes that play major roles in the pathogenesis of human renal carcinoma thus opening up new fields for biochemical research into the pathogenesis of human renal carcinoma.
Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic. The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a practical manner. The authors will cover the principles of molecular genetics in general but also specific to cardiac diseases. They will discuss the etiology, pathogenesis, pathophysiology, clinical presentation, clinical diagnosis, molecular diagnosis an...
This book covers the entire spectrum of thyroid diseases in childhood, focusing on the recent advances that have been achieved, from progress in basic science research through to novel or improved approaches to diagnosis and treatment. Introductory chapters discuss thyroid embryogenesis and the role of thyroid hormones in fetal development. The two contrasting forms of thyroid dysfunction, hypo- and hyperthyroidism, are then considered in depth, with particular attention to the molecular causes of congenital hypothyroidism. Among the other topics addressed are autoimmune thyroiditis, thyroid nodules, and pediatric neoplasms. The book concludes with an overview of promising therapeutic approaches, such as stem cell therapy. Each topic is treated by an eminent expert in the field, ensuring consistently high quality. Thyroid Diseases in Childhood will be an important source of information for endocrinologists, pediatricians, oncologists, and gynecologists, as well as other professionals interested in this topic.
Trigeminal nerve injuries present complex clinical challenges and can be very distressing for patients, resulting in abnormal sensations of the oro-facial region, yet surgeons may lack the knowledge required for optimal patient management based upon the specific nerve injury. This textbook is the first to be devoted to the diagnosis and management of trigeminal nerve injuries. A wide range of topics are covered, including historical perspectives, demographics, etiology, anatomy and physiology, pathophysiology, clinical neurosensory testing, nonsurgical management, and surgical management and principles of microneurosurgery, specifically involving the inferior alveolar and lingual nerves. Algorithms and a glossary are provided that will assist in the clinical management of these complex scenarios. The authors include surgeons with considerable experience and expertise in the field who have previously published on the subject. This book will serve as an ideal clinical reference for surgeons with patients who sustain trigeminal nerve injuries.
Congenital cardiovascular malformations are the single most common form of birth defect. Therefore a better understanding of the mechanisms involved in both normal cardiac development and the formation of cardiovascular structural defects is of tremendous importance. This book brings together the leading scientists from around the world who are actively engaged in studies of the etiology, morphogenesis and physiology of congenital cardiovascular diseases. A broad variety of approaches, techniques, experimental models and studies of human genetics combine to make this a truly outstanding and unique treatise on this pressing topic. Cardiovascular Development and Congenital Malformations is divided into distinct categories, each focusing on a particular aspect of cardiovascular development. Sections are accompanied by editorial overviews which integrate new findings and place the information into a broader context.
This book provides a comprehensive and up-to-date overview of major technical advances and research findings in the field of brachytherapy. Especially research conducted on brachytherapy in Japan has made tremendous strides, offering readers valuable insights into new treatment outcomes, evidence and techniques. In the respective chapters, each author elucidates cutting-edge findings, addressing both the basic and clinical aspects including the application to various cancers, and especially focusing on highly valuable data gleaned in Japan. As such, the book will benefit not only radiation oncologists but also basic researchers, radiation technologists, medical physicists and members of medical staff who are involved in the development and utilization of this advanced therapy.
This textbook is designed to help the busy radiation oncologist to accurately and confidently delineate tumor volumes for conformal radiation therapy (including IMRT). The book provides an atlas of clinical target volumes (CTVs) for commonly encountered cancers, with each chapter illustrating CTV delineation on a slice-by-slice basis, on planning CT images. Common anatomic variants for each tumor are represented in individual illustrations, with annotations highlighting differences in coverage. The anatomy of each site and patterns of lymphatic drainage are discussed, and their influence on the design of CTVs is explained in detail. Utilization of other imaging modalities, including MRI, to delineate volumes is highlighted. Key details of simulation and planning are briefly reviewed. Although the emphasis is on target volume delineation for conformal techniques, information is also provided on conventional radiation field setup and design when IMRT is not suitable.