eBooks
Adolescents and Adults with Autism Spectrum Disorders, 2nd ed. by
The second edition of this book examines the numerous research and practice advances with regard to adolescents and adults with autism spectrum disorders (ASD). Expert contributors offer cogent reviews of complex issues, from education to employment, leisure activities to illegal behaviors, mental health issues to medical health concerns. The volume explores the latest findings in key areas, such as psychosocial and residential treatments, social skills programs, epidemiology, the impact of ASD on families. The book focuses on areas of research and practice that require improved models of assessment, current data, new interventions, and increased support services. Key areas of coverage include: Transition from high school to adulthood for adolescents and young adults with ASD. Innovative programming to support college students with ASD. Romantic relationships, sexuality and ASD. Treatment of mental health comorbidities. Assessment and treatment planning in adults with ASD. The range of outcomes and challenges in middle and later life for individuals with autism. The second edition of Adolescents and Adults with Autism Spectrum Disorders is a must-have reference for researchers, professors, and graduate students as well as clinicians, therapists, and other practitioners in clinical child, school, and developmental psychology, psychiatry, social work, rehabilitation medicine/therapy, special education, and general practice/family medicine.
ISBN: 9783031464638
Advancing Healthcare Through Personalized Medicine, Second ed. by
This book provides a unique perspective on the biomedical and societal implications of personalized medicine and how it helps to mitigate the healthcare crisis and rein in ever-growing expenditure. It introduces the reader to the underlying concepts at the heart of personalized medicine. An innovative second edition, this book functions as an update to the successful first edition to include new, state-of-the-art information and advancements in the fast-paced field of personalized medicine. Chapters examine pharmacogenomics, targeted therapies, individualized diagnosis and treatment, and cancer immunotherapies. The book also features an essential discussion on how the advent of genomic technologies gives clinicians the capability to predict and diagnose disease more efficiently and offers a detailed up-to-date compilation of clinical trials in cancer leading to breakthrough therapies. The book also addresses the impact of Big Data on personalized medicine and the newfound applications of digital health and artificial intelligence. A work that advocates for a patient-centered approach, Advancing Healthcare Through Personalized Medicine, Second Edition is an invaluable text for clinicians, healthcare providers, and patients.
ISBN: 9783030800994Publication Date: 2021-09-28
Economic Evaluation in Genomic and Precision Medicine by
Economic Evaluation in Genomic and Precision Medicine provides an in-depth examination of essential concepts, protocols and applications of economic evaluation in genomic and precision medicine. Contributions from leading international medical geneticists and health economists compile new ways to effectively assess the costs and outcomes of different genomic care pathways, implement cost-effective medical interventions, and enhance the value of genomic and precision healthcare. Foundational chapters and discipline-specific case studies cover topics ranging from the economic analysis of genomic trial design, to health technology assessment of next-generation sequencing, ethical aspects, economic policy in genomic medicine, and pricing and reimbursement in clinical genomics.
Publication Date: 2023-04-24
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, 7th ed. by
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, Seventh Edition thoroughly examines medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods. Here, genetic researchers, students and health professionals will find new and fully revised chapters on the genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions. With regular advances in genomic technologies propelling precision medicine into the clinic, this book, which has served as the ultimate resource for clinicians integrating genetics into medical practice, continues to provide the most important information. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world's most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, this updated edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies.
ISBN: 9780128125342Publication Date: 2022-08-25
eBooks
Genomic and Precision Medicine: Infectious and Inflammatory Disease by
Genomic and Precision Medicine: Infectious and Inflammatory Disease, Third Edition, provides current clinical solutions on the application of genome discovery on a broad spectrum of disease categories in IMD - including asthma, obesity and multiple sclerosis. Each chapter is organized to cover the application of genomics and personalized medicine tools and technologies, along with information on a) Risk Assessment and Susceptibility, b) Diagnosis and Prognosis, c) Pharmacogenomics and Precision Therapeutics, and d) Emerging and Future Opportunities in the field.
ISBN: 9780128014967Publication Date: 2019-08-15
Managing Health in the Genomic Era by
In Managing Health in the Genomic Era: A Guide to Family Health History and Disease Risk, Drs. Vincent C. Henrich, Lori A. Orlando, and Brian H. Shirts discuss the practical considerations surrounding the use of genomic and genetic tests to manage patient health, to provide adult disease risk assessment, to improve diagnosis, and to support effective interventions and treatment. In 10 chapters, evidence-based information and case studies are described and examine the central place of family health history (FHH) in genomic medicine, tools and strategies for compiling and analyzing family health history, how to identify existing and novel genetic markers, how to identify lineage specific (or rare) variants within families, and how to find effective interventions based on genetic testing results and FHH. Factors that influence clinical practice, including gene-environment interactions, FHH social networking, direct to consumer (DTC) genetic testing and data sharing, algorithms for analyzing genetic data, and patient counseling are discussed from the standpoint of clinical practice. Here, frontline healthcare providers will discover succinct commentary and key examples to assist with their local needs. Relevant principles of genetic biology and inheritance are explored and guidance on available support networks and online resources is also provided. 2021 PROSE Awards - Winner: Category: Clinical Medicine: Association of American Publishers Presents a practical, accessible resource for primary care providers, allied health professionals, pharmacologists, public health professionals, students and clinical researchers Addresses genetic and genomic approaches in managing patient health, conducting and analyzing family health histories, and assessing adult disease risk Features an expert author team with direct experience integrating genetics and genomics in primary care and family medicine settings Examines the attributes and limitations of family health history, genetic testing, and genomic testing in clinical practice Includes detailed explanations following practice-based examples
ISBN: 9780128160169Publication Date: 2020-06-27
Smith's Recognizable Patterns of Human Deformation, 5th ed. by
Since Peter Dunn and David Smith presented the basic concepts of deformation in 1975–1976, it has become accepted that unusual mechanical forces are responsible for a wide variety of structural birth defects. The impact of mechanical forces on form not only has provided an understanding of extrinsic constraint deformations, but it has also led to the appreciation that many malformation sequences can be interpreted as arising from an initiating malformation that results in altered mechanical forces and a cascade of intrinsic deformations. This biomechanical perspective provides a better understanding of the importance of mechanical forces in normal morphogenesis.
The major emphasis of Smith’s Recognizable Patterns of Human Deformation is on extrinsic constraint deformations that are secondary to crowding in utero. These should, to the extent possible, be distinguished from malformations with or without secondary intrinsic deformations. Not only are there major differences in the etiology, prognosis, management, and recurrence risk for extrinsic deformations, but also there are profound differences in the prognosis that can be conveyed to the child's parents. The child with extrinsic deformation can usually be interpreted as normal, and the parents can look forward to the restoration of normal form. This attitude toward considering extrinsic deformations as a separable category of birth defects is also critical in providing better answers relative to etiology and prevention. The etiologic factors that cause extrinsic deformation are obviously very different from those that cause malformation problems, which is a critical distinction that has not always been appreciated in epidemiologic studies. The preventive measures for extrinsic deformations are also different and entail such considerations as external cephalic version for fetal malpresentation and/or possible surgical reconstruction of a malformed uterus. Furthermore, because extrinsic deformations are more common in infants of primigravida mothers and in larger fetuses, it is quite reasonable to anticipate that the incidence of extrinsic deformations might increase because of smaller families and/or larger babies.
The basic principles of extrinsic deformation are simple. The magnitude and direction of force have a direct impact on form. These same simple precepts are relevant to the management of deformations. With rare exceptions, correction can be accomplished by the rational application of subtle forces. Over the course of the last 43 years, since collecting the data for the first edition of this book (1981), this knowledge has become an integral part of medicine because extrinsic deformations are common, and these basic concepts have become well established. The overall concepts that relate to the developmental pathology, diagnosis, and management of extrinsic deformations are simple and easily understood by primary care providers and subspecialists, as well as by parents. In recent times there has been a tendency to look for more complex answers of a biochemical, molecular, or physiologic nature, and to bypass the simple mechanistic approaches. Hence this book is dedicated to bringing the mechanical aspects of morphogenesis and deformation into the mainstream of medicine, where they belong.
Very few studies of extrinsic deformation in experimental animals have been done. One reason is that few creatures other than humans tend to outgrow the uterus before birth and to have constraint deformations at birth. Most other animals are born at a much more mature state of development, ready to stand and run away from predators; however, humans are unable to stand and run for almost a year after birth. Humans spend much of their infancy in a recumbent position, which may lead to deformation if the infant's resting position is not purposefully varied. This is one price the slowly aging, rapidly growing, large-brained human must pay for his or her present level of evolvement. One major aspect of human evolution is the prolonged period necessary to complete human brain development, such that the human brain continues to grow slowly over a much longer time than that necessary for other primates. It takes 6 months of postnatal growth for the human brain to reach the proportions found in a chimpanzee at birth. Thus, human gestation would take an additional 7 to 8 months if human neonates were to be born at the same stage of maturity as other primate infants. This continued growth of the human brain appears to leave the human cranium much more vulnerable to mechanical forces than that of other species. To accommodate this continued growth of the brain, the cranial sutures remain open for decades, while the plates of cranial bone continue to afford protection to the developing brain.
Congenital deformations are common, with most resolving spontaneously within the first few days of postnatal life. When such prompt resolution does not take place, further evaluation may be necessary to plan therapeutic interventions and prevent long-term negative consequences. This book provides a rational approach for the diagnosis and management of such deformations. Information concerning unusual intrauterine positions should be transmitted to physicians caring for such newborns in the nursery. When such data are properly interpreted, it can guide further evaluation and therapy and be vastly reassuring to the parents. Prompt treatment of deformations leads to prompt resolution of such problems, whereas delays in treatment sometimes lead to permanent alterations and residual deformations, which can have long-term implications.
ISBN: 9780443114144
