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This book contains updated reviews and original research work on Down Syndrome focussing on brandnew results in neurobiology, in particular results on gene hunting (subtractive hybridization, differential display) and neurochemistry. The book provides new data such as a subtractive library of Down Syndrome brain showing cDNAs that are overexpressed or downregulated and can be regarded as a source for further research on the preliminary transcriptional data given. A 2D-electrophoretic map of human brain proteins including Down Syndrome brain protein expression established by in-gel-digestion of spots with subsequent MALDI-identification provides the scientific basis for protein work to the neuroscientist. Altogether, the book provides a series of new candidate genes possibly involved in Down Syndrome neurobiology, tools for neuroscience studies on Down Syndrome brain thus serving as a manual and updated views and aspects on Down Syndrome pathobiology.
Some well-known age-related neurological diseases include Parkinson's disease, Alzheimer's disease, deafness, and blindness. Even more common are the problems of aging which are not due to disease but to more subtle impairments in neurobiological systems, including impairments in vision, memory loss, muscle weakening, and loss of reproductive functions, changes in body weight, and sleeplessness. As the average age of our society increases, diseases of aging continue to become more common, and conditions associated with aging need more attention by doctors and researchers. In 1991, patients over the age of 65 saw their doctors an average of eight times per year. Research funding is provided by the Neuroscience and Neuropsychology of Aging (NNA) Program, which is run by the National Institute on Aging. This book offers a comprehensive overview of all topics related to functional impairments which are related to the aging brain and nervous system. It is organized according to four general functions: movement, senses, memory, and neuroendocrine regulation. Written by the leading researchers in the field, this comprehensive work addresses both impairments associated with diseases and not associated with diseases, making it easier to understand the mechanisms involved. Functional Neurobiology of Aging is an important reference for professionals and students involved in aging research, as well as physicians who need to recognize and understand age-related impairments. - Organized by function, making it easy to find and understand the material - Addresses impairments both associated with diseases and not associated with diseases - Written by leading researchers in the field - Most comprehensive source of information on the neurobiology of aging
In recent years, the role of cilia in the study of health, development and disease has been increasingly clear, and new discoveries have made this an exciting and important field of research. This comprehensive volume, a complement to the new three-volume treatment of cilia and flagella by King and Pazour, presents easy-to-follow protocols and detailed background information for researchers working with cilia and flagella. - Covers protocols for primary cilia across several systems and species - Both classic and state-of-the-art methods readily adaptable across model systems, and designed to last the test of time - Relevant to clinicians and scientists working in a wide range of fields
Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
Now presented in full color, this updated edition of Memory Loss, Alzheimer's Disease, and Dementia is designed as a practical guide for clinicians that delivers the latest treatment approaches and research findings for dementia and related illnesses. Drs. Budson and Solomon — both key leaders in the field — cover the essentials of physical and cognitive examinations and laboratory and imaging studies, giving you the tools you need to consistently make accurate diagnoses in this rapidly growing area. Access in-depth coverage of clinically useful diagnostic tests and the latest treatment approaches. Detailed case studies facilitate the management of both common and uncommon conditions. Comprehensive coverage of hot topics such as chronic traumatic encephalopathy, in addition to new criteria on vascular dementia and vascular cognitive impairment. Includes new National Institute on Aging–Alzheimer's Association and DSM-5 criteria for Alzheimer’s Disease and Mild Cognitive Impairment. Learn how to use new diagnostic tests, such as the amyloid imaging scans florbetapir (Amyvid), flutemetamol (Vizamyl), and florbetaben (Neuraceq), which can display amyloid plaques in the living brains of patients. Updated case studies, many complete with videos illustrating common tests, clinical signs, and diagnostic features, are now incorporated into the main text as clinical vignettes for all major disorders. Brand-new chapters on how to approach the differential diagnosis and on primary progressive aphasia. Expert Consult eBook version included with purchase. This enhanced eBook experience allows you to search all of the text, figures, references, and videos from the book on a variety of devices.
Black & white print. Concepts of Biology is designed for the typical introductory biology course for nonmajors, covering standard scope and sequence requirements. The text includes interesting applications and conveys the major themes of biology, with content that is meaningful and easy to understand. The book is designed to demonstrate biology concepts and to promote scientific literacy.
Berman's Pediatric Decision Making uses an algorithmic, structured approach to lead you to the right diagnosis and treatment every time. Drs. Lalit Baja, Simon Hambidge, Ann-Christine Nyquist, and Gwendolyn Kerby use evidence-based research and flow charts for each presenting complaint or specific disorder to provide quick access to the information you need for effective decision making. With updated drug tables and revised algorithms, this streamlined new edition makes it even easier for you to diagnose and manage common clinical problems from infancy through adolescence. - Rapidly access guidance on diagnosis and management from algorithms for each clinical disorder. - Treat the full range of diseases and disorders with comprehensive coverage of diagnosis, assessment of severity, and clinical management. Choose the best treatment for each case thanks to indications for surgical interventions as well as expensive diagnostic procedures - Access the fully searchable contents online at www.expertconsult.com. - Stay current on recent developments and make effective decisions for movement disorders, physical abuse in children, sexual abuse in children, eating disorders, ADHD, and other hot topics. - Find answers quickly and easily with a new table of contents organized into two sections—Presenting Complaints and Specific Disorders—that reduces the need to flip between chapters. - Tap into the diverse perspectives of expert authors from all over the country. - Get only the information you need in the streamlined new edition with shorter, more user-friendly flow diagrams and fewer specialized chapters.
By focusing on chromosomes, Heredity under the Microscope offers a new history of postwar human genetics. Today chromosomes are understood as macromolecular assemblies and are analyzed with a variety of molecular techniques. Yet for much of the twentieth century, researchers studied chromosomes by looking through a microscope. Unlike any other technique, chromosome analysis offered a direct glimpse of the complete human genome, opening up seemingly endless possibilities for observation and intervention. Critics, however, countered that visual evidence was not enough and pointed to the need to understand the molecular mechanisms. Telling this history in full for the first time, Soraya de Chadarevian argues that the often bewildering variety of observations made under the microscope were central to the study of human genetics. Making space for microscope-based practices alongside molecular approaches, de Chadarevian analyzes the close connections between genetics and an array of scientific, medical, ethical, legal, and policy concerns in the atomic age. By exploring the visual evidence provided by chromosome research in the context of postwar biology and medicine, Heredity under the Microscope sheds new light on the cultural history of the human genome.
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.