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This is an open access title available under the terms of a CC BY-NC-ND 4.0 International licence. It is free to read at Oxford Academic and offered as a free PDF download from OUP and selected open access locations. Jasper's Basic Mechanisms of the Epilepsies has served as the definitive reference in the field of basic research in the epilepsies for five decades through four well-regarded editions. Since its inception, the book has been an indispensable must-read and belongs in the hands of every experimental epilepsy investigator, practicing epileptologist, clinical neuroscientist, and student for both clinical and basic science reference, doctoral and board exam preparation. This fifth edition is the most ambitious yet and remains the definitive reference in the field, providing encyclopedic and updated coverage of the current understanding of basic research in the epilepsies, while also mapping new research directions for the next decade, and reviewing how molecular laboratory evidence is now being translated into new therapeutics. In 79 chapters, the book considers the role of interactions between neurons, synapses, and glia in the initiation, spread, and arrest of seizures. It examines mechanisms of excitability, synchronization, seizure susceptibility and, ultimately, their contributions to epileptogenesis. It provides a framework for expanding the monogenic epilepsy genome and understanding the complex heredity responsible for common epilepsies. It explores the molecular and cellular disease mechanisms of ion channelopathies, developmental epilepsy genes, and progressive myoclonic epilepsies. It considers newly emerging mechanisms of epilepsy comorbidities. And, for the first time, it describes current efforts to identify biomarkers of disease progression and translate discoveries of epilepsy disease mechanisms into new therapeutic strategies at the frontier of molecular medicine.

Macrophages Biology and Tissue Inflammation in Health and Disease outlines the important role of macrophages—keys cells in the innate immune system—as regulators and orchestrators of inflammation and repair in health and disease. It contains chapters by leading authors on the basic and translational aspects of macrophage biology, covering how to maintained tissue homeostatis and how to deal with internal and external biological threats. - Outlines the important role of macrophages as regulators and orchestrators of inflammation and repair in health and disease - Contains chapters by leading authors on the basic and translational aspects of macrophage biology in maintaining tissue homeostasis - Deals with internal and external treats

This book brings together in a review manner a comprehensive summary of high-quality research contributions from the different research teams and their collaborators, to celebrate the 25th anniversary of the Centre for Interdisciplinary Research in Animal Health (CIISA). The topics span from animal behaviour and welfare over biotechnology to clinical veterinary medicine. Thus, the book is of interest for researchers and students working in the diverse fields of veterinary medicine and science.The Centre for Interdisciplinary Research in Animal Health (CIISA), the Research Centre of the Faculty of Veterinary Medicine of the University of Lisbon, commemorated its 25th-year jubilee in 2018. Throughout its history, CIISA has been consolidating as the top-ranking Portuguese Animal and Veterinary Sciences research unit.More recently, CIISA has taken a leading role in the coordination of national and international research networks and consortiums. This conveyed a highly interdisciplinary nature to CIISA's research, encompassing animal, veterinary and biomedical sciences. This multi- and interdisciplinary nature is reflected on the broad scientific background of the team.

This book focuses on major trends and challenges in the area of dyslexia, epilepsy and Parkinson's, and aims to identify new techniques and their applications in biomedical analysis. This fifth volume on neurological disorders explores topics such as real-time epilepsy prediction applied on EEG pediatric data; delineation of epileptogenic zone; behavioral and biological correlates and treatment of dyslexia; potential biomarkers of Parkinson's disease; Rett Syndrome; and automatic assessment of motor impairments for Parkinson's disease. This is an essential reference for students and researchers in medical imaging, brain imaging, image processing, and neurology. Key Features World class contributors in neurological disorders imaging Presents a comprehensive review of imaging related dyslexia, epilepsy and Parkinson's Introductory section presents the fundamentals of various imaging techniques

Bacteria and Intracellularity clearly demonstrates that cellular microbiology as a field has reached maturity, extending beyond the strictly cellular level to infections of various organs and tissues. Decades of intense investigation into host-bacterial pathogen interactions have highlighted common concepts in intracellularity but also very diverse mechanisms underlying the various infections produced by bacteria. This book offers a wide-ranging look at the latest studies, including: foodborne pathogens, including how, when, and where bacteria interact with the gut and its microbiota infections of the urogenital tract, endothelial barriers, and the nervous system major advances in work with Mycobacterium tuberculosis and M. leprae subcellular microbiology, including metabolism of infected cells, nuclear biology, and microRNAs endosymbionts, in particular the latest work with Wolbachia and its effect on insect transmission of viral pathogens research into cell autonomous defense pathways that has led to major insights into immunology and innate immunity the latest developments in technology, for the next steps in the study of intracellularity All facets of cellular physiology, within the entire scope of cells and host tissues, can be targeted by pathogens. This book offers to researchers, students, and laboratorians a valuable overview of the state of current research into the cellular microbiology of host-pathogen interactions.

This book provides an up-to-date overview of the current knowledge and research concerning domestic pets as sentinels, forecasters and promoters of human health. Written by leading specialists in the fields of medicine, veterinary, environment, analytical chemistry, sociology and behavioral science, this volume provides a comprehensive understanding of the capabilities of pets in what regards to human health. The first seven chapters are devoted to the use of pets as sentinels for their human companions, in terms of exposure to different classes of environmental chemicals. The following five chapters address the use of pets as models for human diseases and promoters of human health. The final two chapters highlight the psycho-social and psychophysiological aspects of human-animal interactions. The book offers an integrated approach to the One Health concept, providing, in a truly holistic manner, tools to assess the equilibrium between the environment, menand animals. This exercise will highlight and reshape our position towards the planet that despite being “a microscopic dot on a microscopic dot lost in the unimaginable infinity of the Universe” is still our own. At the end of the day, pets will always be there to help us.

The openings offered by functional genomics reconciles organism biology and molecular biology, in order to define an integrative biology that should allow new insights about how a phenotype is built up from a genotype in interaction with its environment. This book covers a wide area of concepts and methods in genomics. This range from international

Since 1984, the year of the publication of its first edition, the famous “Blue Guide” has been the international reference for paediatricians and neuropaediatricians with regard to epileptic syndromes in infants, children and adolescents. This 6th edition reviews some of the most noteworthy developments in the field, particularly in epileptic syndromes, but also focuses on the genetic aspects of the syndromes and their development. Progress brought about by advances in neuroimaging is also discussed in addition to specific etiologies such as parasitic diseases and immune and autoimmune diseases. The different backgrounds of the contributors - coordinators and authors – ensure that the book's longstanding reputation for objectivity and seriousness, built over almost 35 years, remain well-deserved. This book written by the current leading specialists is recognized worldwide as the international reference in epilepsy.

This volume summarizes recent advances in understanding the mechanisms of HIV-1 latency, in characterizing residual viral reservoirs, and in developing targeted interventions to reduce HIV-1 persistence during antiretroviral therapy. Specific chapters address the molecular mechanisms that govern and regulate HIV-1 transcription and latency; assays and technical approaches to quantify viral reservoirs in humans and animal models; the complex interchange between viral reservoirs and the host immune system; computational strategies to model viral reservoir dynamics; and the development of therapeutic approaches that target viral reservoir cells. With contributions from an interdisciplinary group of investigators that cover a broad spectrum of subjects, from molecular virology to proof-of-principle clinical trials, this book is a valuable resource for basic scientists, translational investigators, infectious-disease physicians, individuals living with HIV/AIDS and the general public.

Dans un contexte de changements globaux mondiaux, les plantes modèles sont prévues pour servir comme aide importante dans la compréhension du développement, de mécanismes de communications, de la production d'énergies, biocarburants, matériaux, aliments à partir des plantes. Interface biologique majeure au rôle clef dans un grand nombre de processus et en raison de sa sensibilité à l'environnement, le système racinaire sera présenté puisqu'il démontre une plasticité considérable mais contrainte génétiquement. Cette synthèse correspond au deuxième point d'une étude constituée de quatre tomes.

With potentially high specificity and low toxicity, biologicals offer promising alternatives to small-molecule drugs. Peptide therapeutics have again become the focus of innovative drug development efforts backed up by a resurgence of venture funds and small biotechnology companies. What does it take to develop a peptide-based medicine? What are the key challenges and how are they overcome? What are emerging therapeutics for peptide modalities? This book answers these questions with a holistic story from molecules to medicine, combining the themes of design, synthesis and clinical applications of peptide-based therapeutics and biomarkers. Chapters are written and edited by leaders in the field from industry and academia and they cover the pharmacokinetics of peptide therapeutics, attributes necessary for commercially successful metabolic peptides, medicinal chemistry strategies for the design of peptidase-resistant peptide analogues, disease classes for which peptide therapeutic are most relevant, and regulatory issues and guidelines. The critical themes covered provide essential background information on what it takes to develop peptide-based medicine from a chemistry perspective and views on the future of peptide drugs. This book will be a valuable resource not only as a reference book for the researcher engaged in academic and pharmaceutical setting, from basic research to manufacturing and from organic chemistry to biotechnology, but also a valuable resource to graduate students to understand discovery and development process for peptide-based medicine.

Immune Rebalancing: The Future of Immunosuppression summarizes the most promising perspectives of immunopharmacology, in particular in the area of immunosuppression by considering molecular pathways, personalized medicine, microbiome and nanomedicine. Modulation of immune responses for therapeutic purposes is a particularly relevant area, given the central role of anomalous immunity in diseases. These diseases vary from the most typically immune-related syndromes (autoimmune diseases, allergy and asthma, immunodeficiencies) to those in which altered immunity and inflammation define the pathological outcomes (chronic infections, tumours, chronic inflammatory and degenerative diseases, metabolic disorders, etc. - Visits immunosuppression from a modern point of view of signalling mechanisms at the light of the current knowledge of signalling mechanisms and regulatory networks allows the reader to formulate new ideas and concepts on how to use immunosuppression the therapeutic purposes - Encourages researchers to engage into exploring the field of pharmacological modulation of immune responses in depth, and with the new knowledge and tools available, designs more effective therapeutic strategies to autoimmune and inflammatory diseases, cancer, degenerative diseases and infections - Examines the link between molecular pathways associated to immune-suppression and the new immunopharmacology approaches - Provides information on the new strategies for drug development in this field - Considers the role of microbes in the development of the mammalian immune system and immune responses, which will widen the reader's strategy for addressing therapeutic immune modulations

¿Es el lenguaje el resultado exclusivamente del procesamiento de estímulos de carácter lingüístico por parte de un mecanismo de aprendizaje general? ¿O es consecuencia, por el contrario, de la actividad de un'órgano'cerebral que aparece recurrentemente durante el desarrollo por efecto de un programa innato que se pone en marcha desde antes del nacimiento? Y en todo caso, ¿cómo ha podido surgir desde el punto de vista evolutivo, toda vez que parece carecer de continuidad con otros sistemas de comunicación animales? En el presente libro, las siempre controvertidas cuestiones del innatismo lingüístico, de la estructura y el funcionamiento de la cognición humana, y de la evolución del lenguaje se abordan desde el punto de vista ciertamente inhabitual de la biología molecular, analizando de un modo particularmente detallado la arquitectura del programa de desarrollo (en gran parte de naturaleza genética) que parece intervenir en la organización y la actividad de los centros neuronales encargados del procesamiento lingüístico. Buena parte del libro se dedica, consecuentemente, a la caracterización estructural y funcional de los genes que forman parte de dicho programa, prestando una especial atención a la naturaleza de los trastornos de índole lingüística causados por su mutación. Pero del mismo modo, y con objeto de reevaluar críticamente las diversas hipótesis que, sobre el origen y la evolución del lenguaje, se han venido realizando hasta la fecha, se examina también la historia evolutiva de aquellos genes que parecen haber desempeñado un papel relevante en la aparición del lenguaje en términos filogenéticos. A pesar de todo, la caracterización del lenguaje que surge de este tipo de análisis biológico del lenguaje casa satisfactoriamente con algunas de las propuestas más recientes que, sobre la naturaleza y la evolución del lenguaje, se han desarrollado en el ámbito de la propia Lingüística, en particular, con las derivadas del Programa Minimalista chomskyano, que conciben esta facultad exclusivamente humana como una consecuencia de la novedosa puesta en contacto de sistemas motrices y cognitivos que contarían con una historia evolutiva más dilatada.

Biolinguistics is a highly interdisciplinary field that seeks the rapprochement between linguistics and biology. Linking theoretical linguistics, theoretical biology, genetics, neuroscience and cognitive psychology, this book offers a collection of chapters situating the enterprise conceptually, highlighting both the promises and challenges of the field, and chapters focusing on the challenges and prospects of taking interdisciplinarity seriously. It provides concrete illustrations of some of the cutting-edge research in biolinguistics and piques the interest of undergraduate students looking for a field to major in and inspires graduate students on possible research directions. It is also meant to show to specialists in adjacent fields how a particular strand of theoretical linguistics relates to their concerns, and in so doing, the book intends to foster collaboration across disciplines.Chapter 1 of this book is freely available as a downloadable Open Access PDF at http://www.taylorfrancis.com under a Creative Commons Attribution-Non Commercial-No Derivatives (CC-BY-NC-ND) 4.0 license.

This book, written by very well known opinion leaders in the field, covers all aspects of familial Mediterranean fever, the most common monogenic autoinflammatory disease. The opening chapters explain the genetic basis of the disease and provide insights into the pathogenesis derived from recent experimental studies. A large part of the book is then devoted to a detailed description of the typical and atypical clinical presentations, the disease course, and potential complications in both pediatric and adult patients. Guidance is provided on the measurement of disease severity and the management of patients in daily practice. The advice regarding treatment is based on the best currently available evidence and attention is also paid to important emerging treatments.The book is part of Springer's series Rare Diseases of the Immune System, which presents recently acquired knowledge on pathogenesis, diagnosis, and therapy with the aim of promoting a more holistic approach to these conditions. Monogenic autoinflammatory diseases are hereditary disorders that are caused by single-gene defects in innate immune regulatory pathways and are characterized by a clinical and biological inflammatory syndrome in which there is limited, if any, evidence of autoimmunity. Familial Mediterranean fever itself is due to a mutation in the MEFV gene, which codes for the protein pyrin; it is characterized by periodic fever and episodes of painful inflammation in the abdomen, chest, and joints. Familial Mediterranean Fever will be an invaluable source of up-to-date information for all practitioners involved in the care of patients with the disease.

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

Stiehm's Immune Deficiencies focuses on immunodeficiencies in children and adults. This book covers the many advances in the study of immunodeficiency. Stiehm's Immune Deficiencies includes 62 chapters covering topics such as newly described syndromes, genetic diagnosis, molecular abnormalities, newborn screening, and current therapies. - Provides practical guidance to practitioners dealing with the day-to-day issues of diagnosis and management of immune deficient patients - Covers both clinical management and scientific advances in one place - Includes newly described disorders in various periodic updates to maintain the breadth of the reference

The first comprehensive book on the subject, The Genetic Basis of Sleep and Sleep Disorders covers detailed reviews of the general principles of genetics and genetic techniques in the study of sleep and sleep disorders. The book contains sections on the genetics of circadian rhythms, of normal sleep and wake states and of sleep homeostasis. There are also sections discussing the role of genetics in the understanding of insomnias, hypersomnias including narcolepsy, parasomnias and sleep-related movement disorders. The final chapter highlights the use of gene therapy in sleep disorders. Written by genetic experts and sleep specialists from around the world, the book is up to date and geared specifically to the needs of both researchers and clinicians with an interest in sleep medicine. This book will be an invaluable resource for sleep specialists, neurologists, geneticists, psychiatrists and psychologists.

The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology – not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults. Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research. Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed – brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. - A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology - International list of contributors including the leading workers in the field - Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care

This authoritative book on MALDI MS, now finally available in its second edition and edited by one of its inventors, gives an in-depth description of the many different applications, along with a detailed discussion of the technology itself. Thoroughly updated and expanded, with contributions from key players in the field, this unique book provides a comprehensive overview of MALDI MS along with its possibilities and limitations. The initial chapters deal with the technology and the instrumental setup, followed by chapters on the use of MALDI MS in protein research (including proteomics), genomics, glycomics and lipidomics. The option of MALDI-MS for the analysis of polymers and small molecules are also covered in separate chapters, while new to this edition is a section devoted to the interplay of MALDI MS and bioinformatics. A much-needed practical and educational asset for individuals, academic institutions and companies in the field of bioanalytics.

Un DVD inclus avec des séquences vidéos inédites pour chaque chapitre! L'épileptologie change, et les approches syndromiques sont maintenant complétées par une approche étiologique fondée sur les progrès considérables en génétique. Une approche purement'électro-clinique'n'est plus adaptée aujourd'hui dans bien des cas. Cette 5e édition du'Guide bleu'fait le point sur les plus récents progrès. Ainsi, la structure du livre a un peu évolué, laissant plus de place aux approches : physiologiques épidémiologiques génétiques thérapeutique Néanmoins, la description des syndromes épileptiques reste au coeur de cet ouvrage. La diversité des contributeurs - coordinateurs et auteurs - confère à ce livre des qualités d'objectivité et de sérieux qui en font la réputation depuis maintenant près de 30 ans.

Extensively revised and updated, the new edition of the highly regarded Handbook of Proteolytic Enzymes is an essential reference for biochemists, biotechnologists and molecular biologists. Edited by world-renowned experts in the field, this comprehensive work provides detailed information on all known proteolytic enzymes to date. This two-volume set unveils new developments on proteolytic enzymes which are being investigatedin pharmaceutical research for such diseases as HIV, Hepatitis C, and the common cold. Volume I covers aspartic and metallo petidases while Volume II examines peptidases of cysteine, serine, threonine and unknown catalytic type. A CD-ROM accompanies the book containing fully searchable text, specialised scissile bond searches, 3-D color structures and much more. - The only comprehensive book on proteolytic enzymes - Includes 671 chapters, each written by experts in their field, on proteolytic enzymes from all groups of living organisms and the viruses, including those that are currently major targets of pharmaceutical research - Accompanying CD-ROM provides fully searchable text, 2D structures of peptidases in color and links directly to PubMed and MEROPS databases - Each chapter describes in detail the enzyme name, its history, activity and specificity, structural chemistry, preparation, biological aspects and distinguishing features - Over 1000 peptidases included

Highly Commended, BMA Medical Book Awards 2013Previously published as Textbook of Clinical Neuropsychiatry, this book has been re-titled and thoroughly updated, redesigned, and enhanced to include the fundamentals of neuroscience. This highly acclaimed text provides a definitive, clinically oriented, yet comprehensive book covering neuropsychiatry

H.H. Jasper, A.A. Ward, A. Pope and H.H. Merritt, chair of the Public Health Service Advisory Committee on the Epilepsies, National Institutes of Health, published the first volume on Basic Mechanisms of the Epilepsies (BME) in 1969. Their ultimate goal was to search for a'better understanding of the epilepsies and seek more rational methods of their prevention and treatment.'Since then, basic and clinical researchers in epilepsy have gathered together every decade and a half with these goals in mind -- assessing where epilepsy research has been, what it has accomplished, and where it should go. In 1999, the third volume of BME was named in honor of H.H. Jasper. In line with the enormous expansion in the understanding of basic epilepsy mechanisms over the past four decades, this fourth edition of Jasper's BME is the most ambitious yet. In 90 chapters, the book considers the role of interactions between neurons, synapses, and glia in the initiation, spread and arrest of seizures. It examines mechanisms of excitability, synchronization, seizure susceptibility, and ultimately epileptogenesis. It provides a framework for expanding the epilepsy genome and understanding the complex heredity responsible for common epilepsies as it explores disease mechanisms of ion channelopathies and developmental epilepsy genes. It considers the mechanisms of conditions of epilepsy comorbidities. And, for the first time, this 4th edition describes the current efforts to translate the discoveries in epilepsy disease mechanisms into new therapeutic strategies. This book, considered the'bible'of basic epilepsy research, is essential for the student, the clinician scientist and all research scientists who conduct laboratory-based experimental epilepsy research using cellular, brain slice and animal models, as well as for those interested in related disciplines of neuronal oscillations, network plasticity, and signaling in brain strucutres that include the cortex, hippocampus, and thalamus. In keeping with the 1969 goals, the book is now of practical importance to the clinical neurologist and epileptologist as the progress of research in molecular genetics and modern efforts to design antiepileptic drugs, cures and repairs in the epilepsies converge and impact clinical care.

Epilepsy, Part I, Basic Principles and Diagnosis, Volume 107, in the Handbook of Clinical Neurology series offers a comprehensive review of our knowledge of the field today, including epidemiology, basic mechanisms, animal models, and topics of increasing interest such as the role of inflammation in epilepsy. It provides a comprehensive approach to description of the clinical, electrographic and imaging aspects of the epilepsies, with a clear outline of contemporary classification and the role of modern diagnostic techniques, as well as neuropsychological and psychiatric aspects of epilepsy. Chapters are authored by internationally respected neurologists with varied perspectives insuring depth to the content. Epilepsy, Part II, Treatment, Volume 108, continues coverage of epilepsy with a focus on treatment. The volumes will be a very important resource for basic scientists, clinical investigators, and all health professionals treating patients with epilepsy. - A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology - International list of contributors including the leading workers in the field - Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care

This newest volume of Advances in Neurobiology deals with the Neurochemistry of disease, with chapters covering both human diseases and animal “model” diseases.

Epigenetics is the study of changes in gene expression caused by mechanisms other than changes in the DNA sequence. Epigenetics is a rapidly advancing field with an increasing impact on biological and medical research. The editors of this book have assembled top-quality scientists from diverse fields of epigenetics to produce a major new volume. Comprehensive and cutting-edge, the 26 chapters in this book constitute a key reference manual for everyone involved in epigenetics, DNA methylation, cancer epigenetics and related fields. Topics include: early life environment, DNA methylation and behavior, histone acetyltransferase biology, transgenerational epigenetic inheritance, mammalian X inactivation, epigenetic memory in plants, polycomb-group regulation, centromeres and telomeres, DNA sequence contribution to nucleosome distribution, macrosatellite epigenetics, histones, cell-fate specification and reprogramming, DNA methylation in cancer, variant histone H2A and cancer development, RNA modification, paramutation in plants, DNMT3L dependent methylation during gametogenesis, non-coding RNA, bisulphite-enabled technologies, rapid analysis of DNA methylation, microarray mapping, DNA methylation profiling, ChIP-sequencing, genome-wide DNA methylation analysis, and epigenetics in maize. In addition there are useful chapters on bioinformatics in epigenomics, online resources and tools for epigeneticists, and educational resources for epigenetics. This up-to-date reference manual is an essential book for those working in the field and for scientists in other disciplines it represents a major information resource on the fascinating and fast-moving field of epigenetics.

Arab populations have their “own” genetic disorders, both universal and particular. Genetic diversity within these source populations, along with the fact that the rates of inbreeding are often high and family sizes are often large, constitute conditions that facilitate the emergence and detection of phenotypes explained notably by autosomal recessive inheritance; in which case, the use of homozygosity gene mapping can facilitate the discovery of the corresponding genes. The present book includes 5 parts dealing with various aspects that relate to the genetic structure of Arabs and minorities within the Arab world as well as genetic disorders prevalent in this part of the world. It includes updated reviews of the genetic disorders in various Arab countries and geographic regions. The focus is primarily, but not exclusively, on the group of single-gene disorders with particular emphasis on autosomal recessive conditions. It further includes epidemiological and clinical data as well as inheritance patterns, mutation and polymorphism data, and available haplotype analysis data. The ethnic and genetic diversity of the Arab populations is discussed as well as aspects of genetic counseling practice in this region together with a proposal for an ethical framework for genetic research and prevention of genetic disorders. The target audience of this book includes human and medical geneticists, genetic counselors, researchers, medical specialists dealing with Arab patients or practicing in Arab countries, medical and genetic counseling students, and nurses.

This volume provides updated information on epilepsy genes, on the clinical picture of genetic epilepsies discovered so far, and on conceptual advances in the complicated area of genotype-phenotype correlations. Recent studies on monogenic epilepsies present new insights into mechanisms whereby a mutation of a single gene, coding for an ion channel, can result in a complex epileptic phenotype. The analysis of genetically-determined epileptogenic dysplasia is advancing our understanding of the role of genes in controlling normal and pathological brain development. The pathogenic mechanisms by which gene mutations determine progressive myoclonus epilepsies offer critical opportunities to understand the role of genetic factors in neurodegenerative phenomena associated with an even broader range of progressive epilepsy types. The specialists who have contributed to this book are outstanding international experts in their respective fields, ensuring first and foremost that the reviews are of relevance to clinicians dealing with epilepsy in their daily practice, as well as providing the highest quality scientific information for biomedical research.

Real-time PCR (RT-PCR) technology is highly flexible and many alternative instruments and fluorescent probe systems have been developed recently. The decreased hands-on time, increased reliability and improved quantitative accuracy of RT-PCR methods have contributed to the adoption of RT-PCR for a wide range of new applications. This essential manual presents a comprehensive guide to the most up-to-date technologies and applications as well as providing an overview of the theory of this increasingly important technique. Renowned experts in the field describe and discuss the latest PCR platforms, fluorescent chemistries, validation software, data analysis, and internal and external controls. This timely and authoritative volume also discusses a wide range of RT-PCR applications including: clinical diagnostics, biodefense, RNA expression studies, validation of array data, mutation detection, food authenticity and legislation, NASBA, molecular halotyping, and much more. An essential book for all laboratories using PCR.

This two-volume set — winner of a 2013 Highly Commended BMA Medical Book Award for Medicine — provides an in-depth look at one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease. The inclusion of the latest information on diagnostic testing, population screening, predicting disease susceptibility, pharmacogenomics and more presents this book as an essential tool for both students and specialists across many biological and medical disciplines, including human genetics and genomics, oncology, neuroscience, cardiology, infectious disease, molecular medicine, and biomedical science, as well as health policy disciplines focusing on ethical, legal, regulatory and economic aspects of genomics and medicine.Volume One Includes:Principles, Methodology and Translational Approaches, takes readers on the journey from principles of human genomics to technology, informatic and computational platforms for genomic medicine, as well as strategies for translating genomic discoveries into advances in personalized clinical care.Volume Two Includes:Genome Discoveries and Clinical Applications presents the latest developments in disease-based genomic and personalized medicine. With chapters dedicated to cardiovascular disease, oncology, inflammatory disease, metabolic disease, neuropsychiatric disease, and infectious disease, this work provides the most comprehensive guide to the principles and practice of genomic and personalized medicine. - Highly Commended 2013 BMA Medical Book Award for Medicine - Contributions from leaders in the field provide unparalleled insight into current technologies and applications in clinical medicine. - Full colour throughout enhances the utility of this work as the only available comprehensive reference for genomic and personalized medicine. - Discusses scientific foundations and practical applications of new discoveries, as well as ethical, legal/regulatory, and social issues related to the practice of genomic medicine.

Neuropsychiatric disorders such as schizophrenia, mood disorders, Alzheimer's disease, epilepsy, alcoholism, substance abuse and others are one of the most debilitating illnesses worldwide characterizing by the complexity of the causes, and lacking the laboratory tests that may promote diagnostic and prognostic procedures. Recent advances in neuroscience, genomic, genetic, proteomic and metabolomic knowledge and technologies have opened the way to searching biomarkers and endophenotypes, which may offer powerful and exciting opportunity to understand the etiology and the underlying pathophysiological mechanisms of neuropsychiatric disorders. The challenge now is to translate these advances into meaningful diagnostic and therapeutic advances. This book offers a broad synthesis of the current knowledge about diverse topics of the biomarker and endophenotype strategies in neuropsychiatry. The book is organized into four interconnected volumes: “Neuropsychological Endophenotypes and Biomarkers” (with overview of methodological issues of the biomarker and endophenotype approaches in neuropsychiatry and some technological advances), “Neuroanatomical and Neuroimaging Endophenotypes and Biomarkers”, “Metabolic and Peripheral Biomarkers” and “Molecular Genetic and Genomic Markers”. The contributors are internationally and nationally recognized researchers and experts from 16 countries. This four-volume handbook is intended for a broad spectrum of readers including neuroscientists, psychiatrists, neurologists, endocrinologists, pharmacologists, clinical psychologists, general practitioners, geriatricians, health care providers in the field of neurology and mental health interested in trends that have crystallized in the last decade, and trends that can be expected to further evolve in the coming years. It is hoped that this book will also be a useful resource for the teaching of psychiatry, neurology, psychology and mental health.

Textbook of Clinical Neuropsychiatry provides a comprehensive, encyclopedic and up to date coverage of the complete range of neuropsychiatric disorders. The text is clearly written and well organized, utilizing a consistent and easy to read format throughout. Part I describes the diagnostic assessment of patients and details the interview, mental s

The field of genetics is rapidly evolving and new medical breakthroughs are occuring as a result of advances in knowledge of genetics. This series continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines. - Five sections on the latest advances in complex traits - Methods for testing with ethical, legal, and social implications - Hot topics include discussions on systems biology approach to drug discovery; using comparative genomics for detecting human disease genes; computationally intensive challenges, and more

Infants and children spend one- to two-thirds of their life asleep. Despite this, very little attention has been paid to understanding both normal sleep and sleep-related abnormalities during child development. There are profound changes in sleep and circadian rhythm during growth and maturation. Sleep is particularly important in children, due to

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It is well known that the incidence of epilepsies is higher in this age period than in any other time in the life span. The frequent occurrence of seizures refractory to antiepileptic drug treatments is of great concern. On the opposite side of the spectrum, the group of benign epilepsy syndromes presented in this book is clearly more prevalent in childhood than the intractable epilepsies. Neurologists and paediatricians should be familiar with these conditions because accurate diagnosis, and its consequent good prognosis, may save much suffering to the family. Special emphasis, however, is given to the small proportion of children who, in spite of presenting a usually benign disease, show an atypical evolution which hampers their neuropsychological development. It is fundamental to be aware of the possible ill effects of some antiepileptic drugs in these cases. Finally, advancements in the recognition of new - and not so rare - epileptic syndromes are presented. All the subjects are supported by extensive experience of the authors based in large series of patients.

This book provides an overview of key conceptual and molecular technologies being deployed in immunogenomics, followed by detailed evaluations of the impact of genomics and systems biology on important areas such as cancer immunology, autoimmunity, allergy and the response to infection.

Human health risk assessment involves the measuring of risk of exposure to disease, with a view to improving disease prevention. Mathematical, biological, statistical, and computational methods play a key role in exposure assessment, hazard assessment and identification, and dose-response modelling. Recent Advances in Quantitative Methods in Cancer and Human Health Risk Assessment is a comprehensive text that accounts for the wealth of new biological data as well as new biological, toxicological, and medical approaches adopted in risk assessment. It provides an authoritative compendium of state-of-the-art methods proposed and used, featuring contributions from eminent authors with varied experience from academia, government, and industry. Provides a comprehensive summary of currently available quantitative methods for risk assessment of both cancer and non-cancer problems. Describes the applications and the limitations of current mathematical modelling and statistical analysis methods (classical and Bayesian). Includes an extensive introduction and discussion to each chapter. Features detailed studies of risk assessments using biologically-based modelling approaches. Discusses the varying computational aspects of the methods proposed. Provides a global perspective on human health risk assessment by featuring case studies from a wide range of countries. Features an extensive bibliography with links to relevant background information within each chapter. Recent Advances in Quantitative Methods in Cancer and Human Health Risk Assessment will appeal to researchers and practitioners in public health & epidemiology, and postgraduate students alike. It will also be of interest to professionals working in risk assessment agencies.

Reflecting the shift from genetics to genomics in the pharmaceutical sphere, this Second Edition traces the evolution of the science of pharmacogenetics and gathers research from the forefront of the field-spanning the most influential breakthroughs in molecular diagnostics, metabonomics, proteomics, bioinformatics, disease mapping, pharmacodynamic

The Proceedings of an International Workshop sponsored by the UBC Botanical Garden and Centre for Plant Research held December 11-13, 2002 in Vancouver, British Columbia, Canada.

Comprehensive exposé, by leading neuroscientists, of current knowledge on the neurotransmitter acetylcholine in the cerebral cortex. All aspects of the subject are covered, from its most elementary, at the molecular and cellular levels, to its systemic and holistic implications, including its role in cognition and involvement in human diseases and therapeutics. The twenty-two chapters are grouped under four main headings : I. Functional Morphology of the Acetylcholine Innervation in Cerebral Cortex (Including Hippocampus); II. Modes of Action of Acetylcholine in the Cerebral Cortex; III. Cortical Properties and Functions Modulated by Acetylcholine, and IV. Clinical, Pathological and Therapeutic Implications. This broad perspective updates the reader on recent advances and future trends in the study of a major neuromodulatory system in brain.

Handbook of Proteolytic Enzymes, Second Edition, Volume 1: Aspartic and Metallo Peptidases is a compilation of numerous progressive research studies on proteolytic enzymes. This edition is organized into two main sections encompassing 328 chapters. This handbook is organized around a system for the classification of peptidases, which is a hierarchical one built on the concepts of catalytic type, clan, family and peptidase. The concept of catalytic type of a peptidase depends upon the chemical nature of the groups responsible for catalysis. The recognized catalytic types are aspartic, cysteine, metallo, serine, threonine, and the unclassified enzymes, while clans and families are groups of homologous peptidases. Homology at the level of a family of peptidases is shown by statistically significant relationship in amino acid sequence to a representative member called the type example, or to another member of the family that has already been shown to be related to the type example. Each chapter discusses the history, activity, specificity, structural chemistry, preparation, and biological aspects of the enzyme. This book will prove useful to enzyme chemists and researchers.

Epilepsy is the most common neurological disorder of childhood, occurring both in children whose physical and cognitive states are otherwise normal as well as being a facet of a more generalised and severe brain disease. There are many manifestations of epilepsy and, therefore, a diversity of factors in underlying pathology, responses to treatment