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Inside the third edition of this reference, the reader will find thorough and authoritative discussions of all of these developments and their implications for clinical practice. It includes a major new section on Psychiatric Diseases; descriptions of the molecular and genetic basis of the spongiform encephalopathies as well as the expression of the prion gene under physiologic and pathologic conditions; additional coverage examines the human genome project and neurologic disease; and coverage on alzheimer's disease and related dementias.
Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations
This book summarizes the advances in our understanding of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), as well as the potential relationship between the two.
Traumatic brain injury (TBI) remains a significant source of death and permanent disability, contributing to nearly one-third of all injury related deaths in the United States and exacting a profound personal and economic toll. Despite the increased resources that have recently been brought to bear to improve our understanding of TBI, the developme
Epigenetic mechanisms (DNA modifications, histone alterations and non-coding RNAs) are crucial for transcriptional regulation and alterations of the “physiological epigenome” are increasingly associated with human diseases. During the last decade the emerging field of neuroepigenomics have started to impact tremendously in areas such learning and memory, addiction or neurodegeneration. This expert volume covers the role of epigenetic molecular mechanism in regulation of central nervous system’s function, one of the most exciting areas of contemporary molecular neuroscience. The book describes the current knowledge on the epigenetic basis of human disease covering the complete lifespan: from neurodevelopment/childhood (Rett Syndrome, Rubinstein-Taybi, autism), adolescence (eating disorders, drug addiction, anxiety), adulthood (depression, schizophrenia, amyotrophic lateral sclerosis, Huntington’s disease) and elderly (Alzheimer’s disease, Parkinson’s disease). The book also covers the three major players on neuroepigenomic mechanisms: histones alterations, DNA modifications and non-coding RNAs, their roles at the molecular and cellular level and the impact of their alterations on neuronal function and behavior. Finally, a special chapter on state-of-the-art technologies helps the reader not only to understand epigenetic driven changes in human cognition and diseases but also the methodology that will help to generate paradigm shifts on our understanding of brain function and the role of the neuroepigenome in human diseases.
It has become evident over the last years that abnormalities in RNA processing play a fundamental part in the pathogenesis of neurodegenerative diseases. Cellular viability depends on proper regulation of RNA metabolism and subsequent protein synthesis, which requires the interplay of many processes including transcription, pre--‐mRNA splicing, mRNA editing as well as mRNA stability, transport and translation. Dysfunction in any of these processes, often caused by mutations in the coding and non--‐ coding RNAs, can be very destructive to the cellular environment and consequently impair neural viability. The result of this RNA toxicity can lead to a toxic gain of function or a loss of function, depending on the nature of the mutation. For example, in repeat expansion disorders, such as the newly discovered hexanucleotide repeat expansion in theC9orf72 gene found in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), a toxic gain of function leads to the formation of RNA foci and the sequestration of RNA binding proteins (RBPs). This in return leads to a loss of function of those RBPs, which is hypothesized to play a significant part in the disease progression of ALS and FTD. Other toxicities arising from repeat expansions are the formation of RNA foci, bi--‐directional transcription and production of repeat associated non--‐ATG (RAN) translation products. This book will touch upon most of these disease mechanisms triggered by aberrant RNA metabolism and will therefore provide a broad perspective of the role of RNA processing and its dysfunction in a variety of neurodegenerative disorders, including ALS, FTD, Alzheimer’s disease, Huntington’s disease, spinal muscular atrophy, myotonic dystrophy and ataxias. The proposed authors are leading scientists in the field and are expected to not only discuss their own work, but to be inclusive of historic as well as late breaking discoveries. The compiled chapters will therefore provide a unique collection of novel studies and hypotheses aimed to describe the consequences of altered RNA processing events and its newest molecular players and pathways.
One of the best-selling medical textbooks of all time, Robbins and Cotran Pathologic Basis of Disease is the one book that nearly all medical students purchase, and is also widely used by physicians worldwide. A "who's who" of pathology experts delivers the most dependable, current, and complete coverage of today's essential pathology knowledge. At the same time, masterful editing and a practical organization make mastering every concept remarkably easy. The result remains the ideal source for an optimal understanding of pathology. Offers the most authoritative and comprehensive, yet readable coverage available in any pathology textbook, making it ideal for USMLE or specialty board preparation as well as for course work. Delivers a state-of-the-art understanding of the pathologic basis of disease through completely updated coverage, including the latest cellular and molecular biology. Demonstrates every concept visually with over 1,600 full-color photomicrographs and conceptual diagrams - many revised for even better quality. Facilitates learning with an outstanding full-color, highly user-friendly design.
A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
Amyotrophic lateral sclerosis (ALS) our Lou Gehrig's disease is a fatal, mostly non-familial disease that affects the nervous system of humans by causing the degeneration of nerve cells in the brain and spinal cord. The degeneration halts communication between the nervous system and voluntary muscles in the body. This leads to muscle paralysis and eventually the muscles that aid in breathing are affect; causing respiration to fail. The disease, which affects 20,000-30,000 men and women in the United States at any given time, has no effective treatment; most people with ALS die from respiratory failure within 5 years of the onset of symptoms. Recent epidemiologic studies report an association between the development of ALS and prior service in the U.S. military. The studies evaluated either veterans of the 1991 Persian Gulf War or veterans who served in the military in the period 1910-1982. Due to these findings, the Department of Veterans Affairs (VA) asked the National Academies to conduct an assessment of the potential relationship between military service and the later development of ALS. The project was assigned to the Institute of Medicine (IOM), which appointed a committee and gave it the task of evaluating the scientific literature on ALS in veterans. The committee began its work by identifying medical and scientific literature on ALS. PubMed, a database created and managed by the National Library of Medicine. Amyotrophic Lateral Sclerosis in Veterans; Review of the Scientific Literature presents the findings of this committee. The committee reviewed, evaluated, and summarized the scientific literature on ALS in veterans, composed primarily of peer-reviewed, published literature. This report includes the recommendations of the committee.
This User’s Guide is intended to support the design, implementation, analysis, interpretation, and quality evaluation of registries created to increase understanding of patient outcomes. For the purposes of this guide, a patient registry is an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves one or more predetermined scientific, clinical, or policy purposes. A registry database is a file (or files) derived from the registry. Although registries can serve many purposes, this guide focuses on registries created for one or more of the following purposes: to describe the natural history of disease, to determine clinical effectiveness or cost-effectiveness of health care products and services, to measure or monitor safety and harm, and/or to measure quality of care. Registries are classified according to how their populations are defined. For example, product registries include patients who have been exposed to biopharmaceutical products or medical devices. Health services registries consist of patients who have had a common procedure, clinical encounter, or hospitalization. Disease or condition registries are defined by patients having the same diagnosis, such as cystic fibrosis or heart failure. The User’s Guide was created by researchers affiliated with AHRQ’s Effective Health Care Program, particularly those who participated in AHRQ’s DEcIDE (Developing Evidence to Inform Decisions About Effectiveness) program. Chapters were subject to multiple internal and external independent reviews.