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Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Seventh Edition is the eagerly awaited new edition of the discipline-leading text that has been at the forefront of diagnosis, prevention, and treatment of fetal genetic disorders for over 36 years. The seventh edition continues the long-established tradition of excellence that has become synonymous with this text. The book builds on the foundations of preconception and prenatal genetic counseling and the original pillars of prenatal diagnosis while also providing authoritative coverage of exciting developments in non-invasive genetic testing and rapidly developing molecular techniques, including microarray analysis and next generation sequencing, that are revolutionizing the field. Chapters are once again authored by internationally recognized authorities in the field of prenatal diagnosis. The editors have added three entirely new chapters to this edition to complement the complete revision of existing content. The three new chapters focus on non-invasive prenatal screening, placental genetics, and the psychology of prenatal and perinatal grief. The broad-ranging coverage and international scope will ensure that the new edition maintains its role as the major repository for information on all aspects of prenatal diagnosis. The editors have brought together an invaluable collection of evidence-based facts bolstered by knowledge and decades of experience in the field. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 7th Edition is a timely update to this world-leading text.
During the last three decades, many laboratories worldwide have dedicated their research activities to understanding the roles of the cerebellum in motor control, cognitive processes and the biology of mental processes, behavioral symptoms and emotion. These advances have been associated with discoveries of new clinical disorders, in particular in the field of genetic ataxias, and the growing number of diseases presents a source of difficulty for clinicians during daily practice. This practical guide summarizes and evaluates current knowledge in the field of cerebellar disorders. Encompassing details of both common and uncommon cerebellar ataxias, including vascular, immune, neoplastic, infectious, traumatic, toxic and inherited disorders, this book will assist clinicians in the diagnosis and management of the full spectrum of cerebellar ataxias encountered in daily practice. Essential reading for clinicians, including general practitioners, neurologists, pediatricians, radiologists, psychiatrists and neuropsychologists, this will also prove a valuable tool for students, trainees and researchers.
#1 NEW YORK TIMES BESTSELLER • OPRAH’S BOOK CLUB PICK • ONE OF GQ's TOP 50 BOOKS OF LITERARY JOURNALISM IN THE 21st CENTURY • The heartrending story of a midcentury American family with twelve children, six of them diagnosed with schizophrenia, that became science's great hope in the quest to understand the disease. "Reads like a medical detective journey and sheds light on a topic so many of us face: mental illness." —Oprah Winfrey Don and Mimi Galvin seemed to be living the American dream. After World War II, Don's work with the Air Force brought them to Colorado, where their twelve children perfectly spanned the baby boom: the oldest born in 1945, the youngest in 1965. In those years, there was an established script for a family like the Galvins--aspiration, hard work, upward mobility, domestic harmony--and they worked hard to play their parts. But behind the scenes was a different story: psychological breakdown, sudden shocking violence, hidden abuse. By the mid-1970s, six of the ten Galvin boys, one after another, were diagnosed as schizophrenic. How could all this happen to one family? What took place inside the house on Hidden Valley Road was so extraordinary that the Galvins became one of the first families to be studied by the National Institute of Mental Health. Their story offers a shadow history of the science of schizophrenia, from the era of institutionalization, lobotomy, and the schizophrenogenic mother to the search for genetic markers for the disease, always amid profound disagreements about the nature of the illness itself. And unbeknownst to the Galvins, samples of their DNA informed decades of genetic research that continues today, offering paths to treatment, prediction, and even eradication of the disease for future generations. With clarity and compassion, bestselling and award-winning author Robert Kolker uncovers one family's unforgettable legacy of suffering, love, and hope.
Motor System Disorders: Normal Physiology and Function and Neuromuscular Disorders summarizes recent advances and best practice for understanding normal physiology and function of the larger motor system as well as the diagnosis, course, and treatment of neuromuscular disorders. The work will include neuroanatomy, circuits and synapses. It discusses how different parts of the brain contribute to motor control, including both vestibular and cerebellar motor control, as well as the influences of the parietal and frontal lobes. Diagnostic methods include genetic evaluation, electrodiagnosis, pathology, and brain imaging. Neuromuscular disorders of both children and adults will be included. - Identifies normal motor control physiology and function, including neuroanatomy, circuits, and synapses - Discusses vestibular and cerebral motor control and contributions of parietal and frontal lobes - Provides diagnostic methods, including genetic evaluation, electrodiagnosis, brain imaging, and pathology analyses - Summarizes the diagnosis, course, and best practice treatment of neuromuscular disorders - Explores neuromuscular disorders in adults and children
Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on "Gonadotropins, Obesity and Bone" and new research on non-invasive prenatal diagnosis with cell-free DNA. Chapters are thoroughly updated covering steroid disorders, the genetic bases for the disorder and case presentations, This definitive reference belongs in every medical library! - Presents a comprehensive, translational look at all aspects of genetic steroid disorders in one reference work - Provides a common language for endocrinologists, geneticists, molecular pathologists, and genetic counselors to discuss and diagnose genetic steroid disorders Saves clinicians and researchers time in quickly accessing the very latest details on genetic tests and diagnoses as opposed to searching through thousands of journal articles - Highlights significant discoveries with clinical relevance, presenting insight into which medications to use based on the genetic makeup of a patient - Teaches the best strategies and most effective use of genetic information in the patient counseling setting
A clear and comprehensive account of how genetic abnormalities, neurobiology, and neuropsychology work together to manifest cognitive-behavioral dysfunction. The authors review the current status of research in autosomal disorders that produce cognitive-behavioral dysfunction and syndromal and nonsyndromal disorders that produce mental retardation.
This is the revised edition of the casebook, Genetics: Ethics, Law, and Policy, which has been used successfully in law schools in both the seminar and course context. It is authored by three of the nation's leading experts on genetic ethics, law and policy. Students enjoy the course because of the topicality of the subjects, many of which they hear about in the news (gene discoveries, embryo stem cell research). Faculty members enjoy teaching from the book because of the excellent teaching manual and because they can link it to other topics ? the casebook covers issues in health law, employment law, insurance law, criminal law, family law, and other fields. The casebook is supplemented regularly on the TWEN website, so that it is always current. A background in genetics is not required for either students or teachers. The casebook and teachers? manual are written so that the casebook can be used for undergraduate courses or courses for the health professions, for public health, or for public policy.
This report considers the biological and behavioral mechanisms that may underlie the pathogenicity of tobacco smoke. Many Surgeon General's reports have considered research findings on mechanisms in assessing the biological plausibility of associations observed in epidemiologic studies. Mechanisms of disease are important because they may provide plausibility, which is one of the guideline criteria for assessing evidence on causation. This report specifically reviews the evidence on the potential mechanisms by which smoking causes diseases and considers whether a mechanism is likely to be operative in the production of human disease by tobacco smoke. This evidence is relevant to understanding how smoking causes disease, to identifying those who may be particularly susceptible, and to assessing the potential risks of tobacco products.
Comprising 31 clinical protocols from the world's foremost clinical geneticists, this title provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms.