Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics Features chapter contributions from authors at leading adult genetics institutions in the US and abroad
Judith G. Hall is a 2011 Fellow of The Royal Society of Canada. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.
Genetics is a rapidly changing field, making it difficult for Primary Care practitioners to keep up to date. This book is a collaboration between 2 consultant geneticists, and 2 experienced GPs. This small book provides accessible information, including explanatory diagrams and family trees, about both specific genetic diseases and the possible genetic components of major diseases, such as heart disease and diabetes, for the primary health care team. It aims tohelp practitioners to know why, when and where they should refer patients or affected families to get the best advice about, or surveillance of, genetic disease. It also contains information about the genetic testing which may be offered in secondary care. Each chapter also contains a list ofresources which might be of further use to the practitioner or their patient. There are chapters on cancer, as well as antenatal screening, and specific problems that may arise from such screening.
|Publisher||: Academic Press|
|Release Date||: 2017-09-22|
|ISBN 10||: 0128019034|
|Pages||: 312 pages|
Huntington Disease summarizes the most recent findings related to the disease, providing both cutting edge coverage for clinical/research specialists looking to expand their knowledge base of Huntington disease information, as well as solid groundwork for advanced students from various backgrounds (neurology, psychiatry, neuropsychology, genetics). The volume includes all major areas of Huntington disease clinical care and research, whereas many other HD texts focus solely on neurological symptoms. This book also addresses behavioral and cognitive symptoms, brain imaging, and family dynamics and therapeutic alliances in working with individuals affected by HD. Clinical trials are covered extensively, including design considerations for therapeutic studies. The devastating nature of Huntington’s disease is well appreciated throughout the neuroscience, neurology, and psychiatric communities, and a great amount of basic and clinical research is currently taking place. However, much of that occurs in isolated research silos, and it is critical that an interdisciplinary resource be developed to provide in depth information to enhance communication and collaboration. This volume in the Handbook of Clinical Neurology series is that resource. Includes coverage of both basic science and clinical aspects of the disease, as well as treatment, experimental therapeutics, and biomarkers Provides an essential resource for the non-neurologist, including necessary background for understanding the disease before making a more detailed study proposal Provides an interdisciplinary approach that can be applied in everyday clinic and research efforts Features chapters edited by leaders in the field around the globe—the broadest expert coverage available
|Author||: Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody|
|Publisher||: Academic Press|
|Release Date||: 2020-09-30|
|ISBN 10||: 0128126833|
|Pages||: 790 pages|
For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. 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, the Seventh Edition of this classic reference 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 to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. Wholly revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods Provides genetic researchers, students, and health professionals with up-to-date coverage on the genetic basis of a range of metabolic disorders, including body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics A robust companion website offers lecture slides, image banks, and links to outside resources and articles to stay up-to-date on the latest developments in the field
Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.
Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses. Contains comprehensive coverage of neurogenetics Details the latest science and its impact on our understanding of neurological, psychiatric disorders Presents a focused reference for clinical practitioners and the neuroscience/neurogenetics research community
Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems
Advances in genetics are transforming estimates of an individual’s risk of developing cancer and approaches to prevention and management of cancer in those who may have increased susceptibility. Identifying and caring for patients with hereditary cancer syndromes and their family members present a complex clinical, scientific and social challenge. This textbook, by leading experts at Massachusetts General Hospital Cancer Center, highlights the current understanding of the genetics of hereditary cancers of the breast, ovary, colorectum, stomach, pancreas, kidney, skin, and endocrine organs. Practical guidelines for the use of genetic testing, cancer screening and surveillance, prophylactic surgery, and promising targeted therapeutic agents are discussed. In addition, ongoing research involving genome-wide screens to identify novel modest risk-associated genetic loci are explored, along with new approaches to the application of genetic markers in guiding therapeutic options.
The Handbook of Adult Clinical Psychology provides a reliable source of guidance on the full range of issues associated with conducting evidence based practice in adult mental health. Topics covered include: general frameworks for practice: classification and epidemiology; CBT, psychodynamic, systemic and bio-medical models; general assessment procedures mood problems: depression, bipolar disorder and managing suicide risk anxiety problems: generalized anxiety disorder, panic disorder, obsessive compulsive disorder, PTSD and social phobia physical health problems: somatoform disorders, chronic pain, adjustment to cancer, eating disorders and substance abuse other psychological difficulties: schizophrenia, borderline personality disorder, psychological problems in older adults, anger management and depersonalization disorder. Each chapter includes useful skill building exercises, summaries of the issues covered, suggested further reading lists for both psychologists and patients, and case material. This practical Handbook will prove invaluable to clinical psychologists in training, helping them to build the necessary skills to complete a clinical placement in the field of adult mental health. The Handbook of Adult Clinical Psychology is one of a set of three handbooks published by Routledge, which includes The Handbook of Child and Adolescent Clinical Psychology (by Alan Carr) and The Handbook of Intellectual Disability and Clinical Psychology Practice (Edited by Alan Carr, Gary O’Reilly, Patricia Noonan Walsh and John McEvoy).
The prevalence of adult cognitive disorders will dramatically rise over the next 25 years due to the aging population. Clinical research on adult cognitive disorders has rapidly evolved, including evidence of new adult cognitive disorders and greater insight into the clinical presentation, mechanism, diagnosis, and treatment of established diseases. The Oxford Handbook of Adult Cognitive Disorders is an up-to-date, scholarly, and comprehensive volume covering most diseases, conditions, and injuries resulting in impairments in cognitive function in adults. Topics covered include normal cognitive and brain aging, the impact of medical disorders and psychiatric illnesses on cognitive function, adult neurodevelopmental disorders, and various neurological conditions. This Handbook also provides a section on unique perspectives and special considerations for clinicians and clinical researchers, covering topics such as cognitive reserve, genetics, diversity, and neuroethics. Readers will be able to draw upon this volume to facilitate clinical practice (including differential diagnosis, treatment recommendations, assessment practices), and to obtain an in-depth review of current research across a wide spectrum of disorders, provided by leaders in their fields. The Oxford Handbook of Adult Cognitive Disorders is a one-of a kind resource appropriate for both clinicians and clinical researchers, from advanced trainees to seasoned professionals.
Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders. The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias. Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases Teaches the essentials of the genetic basis of disease in each major endocrine organ system Offers expert advice from genetic counselors on how to use genetic information in counseling patients Includes new chapters on the genetics of lipid disorders and glycogen storage diseases, genetics of hypoglycemia, and whole genome/exome sequencing
|Author||: Sandosh Padmanabhan|
|Publisher||: Academic Press|
|Release Date||: 2014-04-28|
|ISBN 10||: 0123868831|
|Pages||: 1118 pages|
Handbook of Pharmacogenomics and Stratified Medicine is a comprehensive resource to understand this rapidly advancing field aiming to deliver the right drug at the right dose to the right patient at the right time. It is designed to provide a detailed, but accessible review of the entire field from basic principles to applications in various diseases. The chapters are written by international experts to allow readers from a wide variety of backgrounds, clinical and non-clinical (basic geneticists, pharmacologists, clinicians, trialists, industry personnel, ethicists) to understand the principles underpinning the progress in this area, the successes, failures and the challenges ahead. To be accessible to the widest range of readers, the clinical application section introduces the disease process, existing therapies, followed by pharmacogenomics and stratified medicine details. Medicine is the cornerstone of modern therapeutics prescribed on the basis that its benefit should outweigh its risk. It is well known that people respond differently to medications and in many cases the risk-benefit ratio for a particular drug may be a gray area. The last decade has seen a revolution in genomics both in terms of technological innovation and discovering genetic markers associated with disease. In parallel there has been steady progress in trying to make medicines safer and tailored to the individual. This has occurred across the whole spectrum of medicine, some more than others. In addition there is burgeoning interest from the pharmaceutical industry to leverage pharmacogenomics for more effective and efficient clinical drug development. Provides clinical and non-clinical researchers with practical information normally beyond their usual areas of research or expertise Includes an basic principles section explaining concepts of basic genetics, genetic epidemiology, bioinformatics, pharmacokinetics and pharmacodynamics Covers newer technologies– next generation sequencing, proteomics, metabolomics Provides information on animal models, lymphoblastoid cell lines, stem cells Provides detailed chapters on a wide range of disease conditions, implementation and regulatory issues Includes chapters on the global implications of pharmacogenomics
This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. When known, the molecular or other pathogenetic basis for the malformation is given. Most anomalies are illustrated by photographs or drawings. Specific malformations are linked to syndromes through the extensive use of differential diagnosis tables. Over a decade has passed since the first edition of this book was published, and the revised edition fully incorporates the advances made in the field during the intervening years.. It reflects new understanding of human developmental biology that has emerged from molecular, cytogenetic, and biochemical studies; new observations by clinicians as well as enhanced diagnostic and prevention capacities; and more accurate and comprehensive epidemiology. By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. Stevenson and Hall and their contributors have managed to update the book while reducing its size to that of a single volume. All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.
Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.
This revised edition of Charles Brook's Handbook of Clinical Pediatric Endocrinology provides endocrinologists and pediatricians in training with a fully up-to-date clinical guide presenting evidence-based practice in the diagnosis, treatment, and management of pediatric endocrine disorders. New chapters include “Endocrine complications of chronic disease” and “Endocrine neoplasia.” In addition, the chapter structure has been revamped for easier access and now includes: a key points overview, multiple-choice questions for self-assessment, common errors/pitffalls (in treatment, diagnosis, etc.) boxes, a key weblinks box, a table comparing different society guidelines, diagnostic decision trees, therapeutics decision trees, and a summary.
Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation--with particular emphasis on medical and health issues--in the emerging economies and countries of the developing world. With sections dedicated to fundamtals of genetics and genomics, epidemiology of human disease, biomarkers, comparative genomics, developments in translational genomic medicine, current and future health strategies related to genetic disease, and pertinent legislative and social factors, this volume highlights the importance of utilizing genetics/genomics knowledge to promote and achieve optimal health in the developing world. Grouped by geographic region, the chapters in this volume address: - Inherited disorders in the developing world, including a thorough look at genetic disorders in minority groups of every continent - The progress of diagnostic laboratory genetic testing, prenatal screening, and genetic counseling worldwide - Rising ethical and legal concerns of medical genetics in the developing world - Social, cultural, and religious issues related to genetic diseases across continents Both timely and vastly informative, this book is a unique and comprehensive resource for genetists, clinicians, and public health professionals interested in the social, ethical, economic, and legal matters associated with medical genetics in the developing world.
Natural disasters and cholera outbreaks. Ebola, SARS, and concerns over pandemic flu. HIV and AIDS. E. coli outbreaks from contaminated produce and fast foods. Threats of bioterrorism. Contamination of compounded drugs. Vaccination refusals and outbreaks of preventable diseases. These are just some of the headlines from the last 30-plus years highlighting the essential roles and responsibilities of public health, all of which come with ethical issues and the responsibilities they create. Public health has achieved extraordinary successes. And yet these successes also bring with them ethical tension. Not all public health successes are equally distributed in the population; extraordinary health disparities between rich and poor still exist. The most successful public health programs sometimes rely on policies that, while improving public health conditions, also limit individual rights. Public health practitioners and policymakers face these and other questions of ethics routinely in their work, and they must navigate their sometimes competing responsibilities to the health of the public with other important societal values such as privacy, autonomy, and prevailing cultural norms. This Oxford Handbook provides a sweeping and comprehensive review of the current state of public health ethics, addressing these and numerous other questions. Taking account of the wide range of topics under the umbrella of public health and the ethical issues raised by them, this volume is organized into fifteen sections. It begins with two sections that discuss the conceptual foundations, ethical tensions, and ethical frameworks of and for public health and how public health does its work. The thirteen sections that follow examine the application of public health ethics considerations and approaches across a broad range of public health topics. While chapters are organized into topical sections, each chapter is designed to serve as a standalone contribution. The book includes 73 chapters covering many topics from varying perspectives, a recognition of the diversity of the issues that define public health ethics in the U.S. and globally. This Handbook is an authoritative and indispensable guide to the state of public health ethics today.
Handbook of Cannabis and Related Pathologies: Biology, Pharmacology, Diagnosis, and Treatment is the first book to take an interdisciplinary approach to the understanding of cannabis use and misuse. Recent worldwide trends toward decriminalizing marijuana for medical use have increased legal use of the drug and recreational use remains high, making cannabis one of the most commonly used drugs. Cannabis has a wide range of adverse neurological effects, and use and abuse can lead to physical, social, and psychopathological issues that are multifarious and complex. Effective understanding and treatment requires knowledge of the drug’s effects from across scientific disciplines. This book provides an overview of the biological and pharmacological components of the cannabis plant, outlines its neurological, social, and psychopathological effects, assists in the diagnosis and screening for use and dependency, and aids researchers in developing effective treatments for cannabis-related issues and disorders. Fully illustrated, with contributions from internationally recognized experts, it is the go-to resource for neuroscientists, pharmacologists, pathologists, public-health workers, and any other researcher who needs an in-depth and cross-disciplinary understanding of cannabis and its effects. Comprehensive chapters include an abstract, key facts, mini dictionary of terms, and summary points Presents illustrations with at least six figures, tables, and diagrams per chapter Provides a one-stop-shopping synopsis of everything to do with cannabis and its related pathology, from chemicals and cells, individuals and communities, and diagnosis and treatment Offers an integrated and informed synopsis of the complex issues surrounding cannabis as a substance, its use, and its misuse