Handbook Of Clinical Adult Genetics And Genomics

Book Description :

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

Book Description :

This issue of Physical Medicine and Rehabilitation Clinics, guest edited by Dr. Aloysia L. Schwabe, will cover a number of important topics related to Cerebral Palsy. This issue is one of four each year selected by our series Consulting Editor, Dr. Santos Martinez. Articles in this issue include but are not limited to: Comprehensive Care in CP, The Expanding Role of Genetics in CP, Musculoskeletal Imaging in CP, Updates in Medical Management of Hypertonia, Biomechanics and Lower Limb Bracing, Surgical tone Reduction In CP, Motion Analysis in Pre-operative Surgical Planning, Technological Advances in CP Rehabilitation, Adaptive Sports and Recreation, Transition, Adult Orthopedic Issues in CP, and CPRN.

Book Description :

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.

Book Description :

Preceded by Oxford desk reference. Clinical genetics / Helen V. Firth, Jane A. Hurst, with Judith G. Hall (consulting editor). 2005.

Book Description :

This book introduces readers to the study of how genes, singly and in combination with each other and the environment, affect health and behavior. It provides family-focused perspectives relating to genetic counseling and education.

Book Description :

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

Book Description :

This handbook provides accessible information on specific genetic diseases, and possible genetic components of major diseases, for the primary health care team and junior doctor in training. It assists with why, when, and where to refer patients, and affected families, to get the best advice about genetic disease.

Book Description :

This practical, user-friendly guidebook will allow the clinician to search under disease site for the hereditary cancer syndromes relevant for his/her patient's cancer. For example, a gynecologist oncologist whose patient has ovarian cancer can turn to the Ovary chapter and quickly read a summary of all of the hereditary cancer syndromes that include ovarian cancer. She can learn the questions she should be asking when expanding that patient's personal and family history, which genes are most relevant, whether to refer that patient on for genetic counseling and testing, and how to manage that patient long-term if the patient is mutation positive or negative. The same holds true for the practicing oncologist, surgeon, urologist, endocrinologist, gynecologist, primary care physician, physician's assistant, advanced practice nurse and any other clinician seeing a patient who has had cancer. This guidebook also contains an overview article on genetic counseling and testing and several in depth articles on issues that are up and coming in the field of hereditary cancer.

Book Description :

Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Book Description :

The Oxford Handbook of Comparative Health Law addresses some of the most critical issues facing scholars, legislators, and judges today: how to protect against threats to public health that can quickly cross national borders, how to ensure access to affordable health care, and how to regulate the pharmaceutical industry, among many others. When matters of life and death literally hang in the balance, it is especially important for policymakers to get things right, and the making of policy can be greatly enhanced by learning from the successes and failures of approaches taken in other countries. Where there are "common challenges" in law and health, there is much to be gained from experiences elsewhere. Thus, for example, countries that suffered early from the COVID-19 pandemic provided valuable lessons about public health interventions for countries that were hit later. Accordingly, the Handbook considers key health law questions from a comparative perspective. In health law, common challenges are frequent. In addition to ones already mentioned, there are questions about addressing the social determinants of health (e.g., poverty and pollution), organizing health systems to optimize use of available resources, ensuring that physicians provide care of the highest quality, protecting patient privacy in a data-driven world, and properly balancing patient autonomy with the interest in preserving life when reproductive and end-of-life decisions are made. This Handbook's wide scope and comparative take on health law are particularly timely. Economic globalization has made it increasingly important for different countries to harmonize their legal rules. Students, practitioners, scholars, and policymakers need to understand how health laws vary across national boundaries and how reforms can ensure a convergence toward an optimal set of legal rules, or ensure that specific legal arrangements are needed in particular contexts. Indeed, comparative analysis has become essential for legal scholars, and The Oxford Handbook of Comparative Health Law is the only resource that provides such an analysis in health law.

Book Description :

This handbook provides tools for nurse educators, ethics educators, practicing nurses and allied health professionals for developing confidence and skill in ethical decision making in interdisciplinary settings such as acute and chronic care hospitals and clinics. It is useful for all healthcare personnel who face ethical issues in the course of their work and who work with nurses to resolve these issues. While the content is based on a US context, the concerns of nurses internationally are discussed and emphasized. Nurses working in acute and chronic care settings face many obstacles to providing good care and are often the first line of defense related to patient safety and meeting the needs of patients and their families. Some of the obstacles to optimal patient care are institutional, some sociocultural, and others the result of inadequate communication. Evidence points to the idea that while nurses do have the knowledge and skills to address practice problems of various sorts, they may not be confident in their skills of ethical decision making and advocacy actions. This is a resource to develop moral agency on behalf of individuals and to address broader barriers to good care raised at the local, community, or social levels.

Book Description :

Clinical Ophthalmic Genetics and Genomics provides an accessible, clinically-focused reference for the evolving field of Genetic Ophthalmology. This well-organised, easy-to-read textbook integrates key concepts with clinical practice and is designed to enhance effective learning and retention of complex material. It includes contributions from recognised leaders in the field and provides expert guidance on the complete spectrum of genetic ophthalmic disorders. A structured introductory section offering a practical guide to the processes involved in diagnosing patients with genetic ophthalmic disorders Expert guidance on the complete spectrum of genetic ophthalmic disorders from leading international clinicians and researchers Well-organised with streamlined, templated chapters and a user-friendly layout that provides quick access to clinically relevant information, and is designed to help ophthalmologists, geneticists, and genetic counsellors in the clinic room

Book Description :

Connecting an abnormal physical exam to a possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist. Comprising 31 clinical protocols from the world's foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential diagnosis. To maximize clinical utility, this handbook features: · Prominent flow chart diagrams that graphically depict the diagnostic approach · Concise recommendations for laboratory and/or imaging studies · Health supervision and management strategies for the most common conditions associated with each presenting sign or symptom Whether for the student, resident, or seasoned clinician, Signs and Symptoms of Genetic Conditions will serve as a frontline resource for navigating differential diagnosis.

Book Description :

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

Book Description :

Genetic methodologies 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 evolving rapidly and expected to grow in scope as more disorders are linked to specific genetic markers. Part I covers basic genetic concepts and recurring biological themes, and begins the discussion of movement disorders and neurodevelopmental disorders, leading the way for Part II to cover a combination of neurological, neuromuscular, cerebrovascular, and psychiatric disorders. This volume in the Handbook of Clinical Neurology will provide a comprehensive introduction and reference on neurogenetics for the clinical practitioner and the research neurologist. Presents a comprehensive coverage of neurogenetics Details the latest science and impact on our understanding of neurological psychiatric disorders Provides a focused reference for clinical practitioners and the neuroscience/neurogenetics research community

Book Description :

Genetics promises to provide one of the most powerful approaches to understanding the functional pathology of the human brain. This book starts with a brief introduction to the relevant molecular and cellular biology and then moves on to cover the evidence for a genetic contribution to normal and abnormal development and to abnormal behaviour in adult life. The final section covers counselling, ethics and takes a look to the future.

Book Description :

While neurodevelopmental and genetic disorders are often diagnosed in childhood, understanding and managing the impact of these conditions is a lifelong challenge. This authoritative handbook presents cutting-edge knowledge to guide effective assessment and treatment throughout the adult years. Illuminated are the neurobiological bases and clinical characteristics of a broad range of conditions that affect learning and behavior as well as physical functioning and health. Following a consistent format, chapters comprehensively describe the developmental course of each disorder, the changing needs of adults, and ways to help them harness their strengths.

Book Description :

The exponential growth of clinical psychology since the late 1960s can be measured in part by the extensive-perhaps exhaustive-literature on the subject. This proliferation of writing has continued into the new century, and the field has come to be defined as much by its many topics as its many voices. The Oxford Handbook of Clinical Psychology synthesizes these decades of literature in one extraordinary volume. Comprising chapters from the foremost scholars in clinical psychology, the handbook provides even and authoritative coverage of the research, practice, and policy factors that combine to form today's clinical psychology landscape. In addition to core sections on topics such as training, assessment, diagnosis, and intervention, the handbook includes valuable chapters devoted to new and emerging issues in the clinical field, including heath care reforms, cultural factors, and technological innovations and challenges. Each chapter offers a review of the most pertinent literature, outlining current issues and identifying possibilities for future research. Featuring two chapters by Editor David H. Barlow -- one on changes during his own 40-year odyssey in the field, the other projecting ten themes for the future of clinical psychology -- The Oxford Handbook of Clinical Psychology is a landmark publication that is sure to serve as the field's benchmark reference publication for years to come. It is an essential resource for students, clinicians, and researchers across the ever-growing clinical psychology community.

Book Description :

The development of this inaugural Handbook of Oncology Social Work: Psychosocial Care for People With Cancer provides a repository of the scope of oncology social workers' clinical practice, education, research, policy and program leadership in the psychosocial care of people with cancer and their families. It focuses on the unique synergy of social work perspectives, values, knowledge, and skills with the psychosocial needs of cancer patients, their families, and the health care systems in which they are treated. It addresses both the science and art of psychosocial care and identifies the increasing specialization of oncology social work related to its unique knowledge base, skills, role, and the progressive complexity of psychosocial challenges for patients with cancer. This Handbook equips the reader with all that we know today in oncology social work about patient and family centered care, distress screening, genetics, survivorship, care coordination, sociocultural and economic diversity, legal and ethical matters, clinical work with adults living with cancer, cancer across the lifespan, their caregivers and families, pediatrics, loss and grief, professional career development, leadership, and innovation. Our hope is that in reading this Handbook you will identify new areas where each of you can leave your mark as innovators and change agents in our evolving field of practice.

Book Description :

The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.