Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy. - Shows how to define the inheritance and formation of cytogenetically visible copy number variations using cytogenetic and molecular approaches for genetic diagnostics, patient counseling, and treatment plan development - Uniquely classifies all known variants by chromosomal origin, saving time and money for researchers in reviewing benign and pathologic variants before costly molecular methods are used to investigate - Side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques
This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.
Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.
An essential reference, particularly for students who encounter nursing theory and research courses in their educational programs....In her foreword...Afaf Meleis states that it is the answer to a graduate student's prayers. I would certainly agree, and I would add that experienced researchers and theoreticians can use it as a handy reference for day-to-day scholarly activities.-- Nursing Education Perspectives. Updated terminology and the addition of many new terms with examples and references that reflect current nursing practice make this third edition of the Dictionary of Nursing Theory and Research a valuable accompaniment to the nursing student's or practitioner nurse's bookshelf. With the inclusion of research, theory, statistical, and epidemiologic definitions, as well as cross-reference notes at the end of each entry, this compilation is one of the most comprehensive and up-to-date nursing dictionaries available.;. This alphabetical dictionary of terms used in nursing research and nursing theory offers clear definitions--often in. multiple paragraphs and sometimes ending with an example that further demonstrates the meaning of the term Cross-references. are printed in boldface after the definitions with references that will lead the serious reader to delve more deeply into. contextual use of the terms and concepts.---CHOICE February 2006. What distinguishes this Dictionary from others are its attention to the diversity in inquiry and distinctively nursing. 'takes' on key concepts in theory and research. This Dictionary will be a welcome addition to the libraries of both new and. experienced researchers.. ---- Margarete Sandelowski, Cary C. Boshamer Professor, School of Nursing, University of North Carolina at Chapel Hill. This alphabetical dictionary of terms used in nursing research and nursing theory. offers clear definitions-often in multiple paragraphs and sometimes ending with an. example that further demonstrates the meaning of the term. Cross-references are printed. in boldface after the definitions. Powers (emer., Univ. of Rochester) and Knapp (Univ. of. Rochester/Ohio State Univ.) offer descriptive definitions with references that will lead. the serious reader to delve more deeply into the contextual use of the terms and. concepts. Given the accolades for the second edition(1995), it might be expected that the. definitions would rely on older references. Instead, the majority of the 17 pages of. references supporting the text take readers to publications newer than 1995, with a. significant number being as recent as 2004. The work, therefore, is unlikely to become. outdated for many years to come. Summing Up: Highly recommended. All Libraries. that support nurses' education and research at the lower-level undergraduate level and. above.- K. Bradley. Bellevue Community College ---CHOICE February 2006
A fundamental, reader-friendly guide to evidence-based practice (EBP) for BSN, MSN, and DNP nursing students, Evidence-Based Practice in Nursing explains the conceptual underpinnings of EBP and demonstrates how nurses can put EBP concepts into practice. Replete with critical knowledge, skills, tools, and scholarly development to enable nurses to fully and confidently deliver the highest-quality EBP care, this book eschews a one-size-fits-all approach unique systematic guidelines for understanding and applying EBP. Building blocks of information grow progressively more complex to apply to any point along nursing’s academic trajectory. Thoughtfully organized to fit a variety of EBP-related course objectives, Evidence Based Practice in Nursing easily adapts for standalone EBP courses at any level as well as advanced practice specialty courses that integrate EBP content. This book addresses the needs of all nursing instructors, including those who teach at multiple levels simultaneously. Key content discusses requisite conceptual knowledge of EBP for building clinical decision-making skills; conceptualizing, implementing, and evaluating EBP projects; conducting translational research and quality improvement for implementation and evaluation of EBP; developing leadership and structural empowerment strategies; and analyzing how students at each degree/level work with EBP independently, inter-professionally, and intraprofessionally. Chapters align with AACN essentials. Key Features: Follows a methodical systematic trajectory building from simple to complex concepts Includes abundant examples demonstrating both negative and positive EBP applications Enables instructors to adopt one textbook for BSN, MSN, and DNP students Includes practical design templates for developing EBP information plans with critical guideposts Provides a quality improvement toolkit, key words and concepts, illustrative tables, and figures
This textbook provides a comprehensive and didactic introduction from the basics to the current state of the art in the field of EEG/MEG source reconstruction. Reconstructing the generators or sources of electroencephalographic and magnetoencephalographic (EEG/MEG) signals is an important problem in basic neuroscience as well as clinical research and practice. Over the past few decades, an entire theory, together with a whole collection of algorithms and techniques, has developed. In this textbook, the authors provide a unified perspective on a broad range of EEG/MEG source reconstruction methods, with particular emphasis on their respective assumptions about sources, data, head tissues, and sensor properties. An introductory chapter highlights the concept of brain imaging and the particular importance of the neuroelectromagnetic inverse problem. This is followed by an in-depth discussion of neural information processing and brain signal generation and an introduction to the practice of data acquisition. Next, the relevant mathematical models for the sources of EEG and MEG are discussed in detail, followed by the neuroelectromagnetic forward problem, that is, the prediction of EEG or MEG signals from those source models, using biophysical descriptions of the head tissues and the sensors. The main part of this textbook is dedicated to the source reconstruction methods. The authors present a theoretical framework of the neuroelectromagnetic inverse problem, centered on Bayes’ theorem, which then serves as the basis for a detailed description of a large variety of techniques, including dipole fit methods, distributed source reconstruction, spatial filters, and dynamic source reconstruction methods. The final two chapters address the important topic of assessment, including verification and validation of source reconstruction methods, and their actual application to real-world scientific and clinical questions. This book is intended as basic reading for anybody who is engaged with EEG/MEG source reconstruction, be it as a method developer or as a user, including advanced undergraduate students, PhD students, and postdocs in neuroscience, biomedical engineering, and related fields.
This book provides a detailed investigation into the evidence implicating oxygen radicals in the etiology of eleven different human diseases or conditions. World renowned experts from each discipline review the data supporting this involvement, and discuss the full implications that result. Topics covered include Alzheimer's disease, cerebral ischemia, rheumatoid arthritis, inflammatory bowel disease, atherosclerosis, ARDS, critical care medicine and cancer. This book not only provides an invaluable resource for those seeking up to date information on the evidence supporting the involvement of oxygen radicals in human disease, but also instigates theoretical discussion of future research endeavors.
A Comprehensive Method, Tools, and Techniques for Building Sound Theory Richard Swanson and Thomas Chermack present a complete five-step approach for developing sound theory in applied disciplines, from conceptualizing a theory to creating relevant assessment criteria, establishing a research agenda to test the theory’s validity, applying the theoretical concepts in the real world, and using that experience to further refine and improve the theory. The method is not restricted to any single discipline, nor is it limited by any research ideology. The authors provide a set of tools for each phase of the process, making this book accessible to a wide audience. And in addition to examples in each chapter, they offer two extended case examples of full theory building.
Using previously untapped resources including private collections, the records of cultural institutions, and federal and state government archives, Schoonover analyzes the German role in Central American domestic and international relations. Of the four countries most active in independent Central America-Britain, the United States, France, and Germany- historians know the least about the full extent of the involvement of the Germans. German colonial expansion was based on its position as an industrialized state seeking economi ...
This volume contains the proceedings of the International Conference on Prostaglandins and Lipid Metabolism in Radiation Injury held in Rockville, Maryland, on October 2-3, 1986. Over 200 persons from eight countries attended the program, which consisted of 24 oral presentations and 38 poster presentations. Forty-two of those presentations have been included in this volume. The conference was sponsored by the Armed Forces Radiobiology Research Institute, located in Bethesda, Maryland. The effects of radiation on lipid synthesis and membrane damage are aptly summarized in the first five chapters. These chapters describe the effects of radiation on lipid peroxidation of model membranes, and the role of lipid composition in mammalian cell death and in bacterial radio- and thermosensitivity. In bacteria, lipid peroxidation is not essential for radiation-induced cell death. One of the key points of the conference was the paradoxical nature of the radiobiology of eicosanoids. On the one hand, eicosanoids are mediators of damage; on the other, they are radioprotective agents. It is clear from the literature and from the data presented at the conference that both of these properties may also be observed as a consequence of radiotherapy. Some studies indicate that nonsteroidal anti-inflammatory drugs may minimize or prevent certain radiation induced damage, but other studies show no positive effect.
Annotation Specialist Periodical Reports provide systematic and detailed review coverage of progress in the major areas of chemical research. Written by experts in their specialist fields the series creates a unique service for the active research chemist, supplying regular critical in-depth accounts of progress in particular areas of chemistry. For over 90 years The Royal Society of Chemistry and its predecessor, the Chemical Society, have been publishing reports charting developments in chemistry, which originally took the form of Annual Reports. However, by 1967 the whole spectrum of chemistry could no longer be contained within one volume and the series Specialist Periodical Reports was born. The Annual Reports themselves still existed but were divided into two, and subsequently three, volumes covering Inorganic, Organic and Physical Chemistry. For more general coverage of the highlights in chemistry they remain a 'must'. Since that time the SPR series has altered according to the fluctuating degree of activity in various fields of chemistry. Some titles have remained unchanged, while others have altered their emphasis along with their titles; some have been combined under a new name whereas others have had to be discontinued. The current list of Specialist Periodical Reports can be seen on the inside flap of this volume.
This book examines ways in which formerly prosperous regions can renew their economy during and after a period of industrial and economic recession. Using New York’s Capital Region (i.e., Albany, Troy, Schenectady, etc.) as a case study, the authors show how entrepreneurship, innovation, investment in education, research and political collaboration are critical to achieving regional success. In this way, the book provides other regions and nations with a real-life model for successful economic development. In the past half century, the United States and other nations have seen an economic decline of formerly prosperous regions as a result of new technology and globalization. One of the hardest-hit United States regions is Upstate New York or “the Capital Region”; it experienced a demoralizing hemorrhage of manufacturing companies, jobs and people to other regions and countries. To combat this, the region, with the help of state leaders, mounted a decades-long effort to renew and restore the region’s economy with a particular focus on nanotechnology. As a result, New York’s Capital Region successfully added thousands of well-paying, skill-intensive manufacturing jobs. New York’s success story serves as a model for economic development for policy makers that includes major public investments in educational institutions and research infrastructure; partnerships between academia, industry and government; and creation of frameworks for intra-regional collaboration by business, government, and academic actors. Featuring recommendations for best practices in regional development policy, this book is appropriate for scholars, students, researchers and policy makers in regional development, innovation, R&D policy, economic development and economic growth.
For many years scholars have sought to explain why the European states which emerged in the period before the French Revolution developed along such different lines. Why did some become absolutist and others constitutionalist? What enabled some to develop bureaucratic administrative systems, while others remained dependent upon patrimonial practices? This book presents a new theory of state-building in medieval and early modern Europe. Ertman argues that two factors - the organisation of local government at the time of state formation and the timing of sustained geo-military competition - can explain most of the variation in political regimes and in state infrastructures found across the continent during the second half of the eighteenth century. Drawing on insights developed in historical sociology, comparative politics, and economic history, this book makes a compelling case for the value of interdisciplinary approaches to the study of political development.
Marking the 80th anniversary of the outbreak of the Spanish Civil War, this volume takes a close look at the initial political moves, military actions and consequences of the fratricidal conflict and their impact on both Spaniards and contemporary European powers. The contributors re-examine the crystallization of the political alliances formed in the Republican and the Nationalist zones; the support mobilized by the two warring camps; and the different attitudes and policies adopted by neighbouring and far away countries. Spain 1936: Year Zero goes beyond and against commonly held assumptions as to the supposed unity of the Nationalist camp vis-a-vis the fragmentation of the Republican one; and likewise brings to the fore the complexities of initial support of the military rebellion by Nazi Germany and Soviet support of the beleaguered Republic. Situating the Iberian conflict in the larger international context, senior and junior scholars from various countries challenge the multitude of hitherto accepted ideas about the beginnings of the Spanish Civil War. A primary aim of the editors is to enable discussion on the Spanish Civil War from lesser known or realized perspectives by investigating the civil wars impact on countries such as Argentina, Japan, and Jewish Palestine; and from lesser heard voices at the time of women, intellectuals, and athletes. Original contributions are devoted to the Popular Olympiad organized in Barcelona in July 1936, Japanese perceptions of the Spanish conflict in light of the 1931 invasion to Manchuria, and international volunteers in the International Brigades.
This book explores the application of the open-source software OpenGeoSys (OGS) for hydrological numerical simulations concerning conservative and reactive transport modeling. It provides general information on the hydrological and groundwater flow modeling of a real case study and step-by-step model set-up with OGS, while also highlighting related components such as the OGS Data Explorer. The material is based on unpublished manuals and the results of a collaborative project between China and Germany (SUSTAIN H2O). Though the book is primarily intended for graduate students and applied scientists who deal with hydrological modeling, it also offers a valuable source of information for professional geoscientists wishing to expand their knowledge of the numerical modeling of hydrological processes including nitrate reactive transport modeling. This book is the second in a series that showcases further applications of computational modeling in hydrological science.
Keep abreast of the latest advances in this complex field with the 5th Edition of Clinical Immunology: Principles and Practice. This substantially revised edition by Drs. Robert R. Rich, Thomas A. Fleisher, William T. Shearer, Harry W. Schroeder, Jr., Anthony J. Frew, and Cornelia M. Weyand, offers authoritative guidance from some of the most respected global leaders in immunology, helping you navigate today’s latest knowledge and evidence-based practices that result in improved patient care. This trusted resource features sweeping content updates, rewritten chapters, a highly clinical perspective, and an easy-to-use organization designed to enhance your diagnosis and management skills in daily practice. User-friendly format features color-coded boxes highlighting critical information on Key Concepts, Clinical Pearls, Clinical Relevance, and Therapeutic Principles. Includes new chapters on the Microbiota in Immunity and Inflammation, Immune Responses to Fungi, and Genetics and Genomics of Immune Response. Features extensive revisions to many chapters, including the Major Histocompatibility Complex, Multiple Sclerosis, Diabetes and Related Autoimmune Diseases, Biologic Modifiers of Inflammation and Tumor Immunotherapy. Covers hot topics such as the role of genetics and genomics in immune response and immunologic disease, atherosclerosis, recurrent fever syndromes, aging and deficiencies of innate immunity, the role of microbiota in normal immune system development and the pathogenesis of immunologic and inflammatory diseases, and novel therapeutics. Addresses notable advances in key areas such as the importance of the microbiota to normal immune system development and to the pathogenesis of immunologic and inflammatory diseases; relationships between the innate and adaptive immune systems; progress in rapid and cost-effective genomics; cell signaling pathways and the structure of cell-surface molecules; and many more. Summarizes promising research and development anticipated over the next 5-10 years with "On the Horizon" boxes and discussion of translational research. Includes new multiple choice questions in every chapter online, ideal for allergists and rheumatologists seeking certification or recertification in these subspecialties. Expert ConsultTM eBook version included with purchase. This enhanced eBook experience allows you to search all of the text, figures, and references from the book on a variety of devices.
Comprehensive and lavishly illustrated, McKee's Pathology of the Skin, 5th Edition, is your reference of choice for up-to-date, authoritative information on dermatopathology. You'll find clinical guidance from internationally renowned experts along with details on etiology, pathogenesis, histopathology, and differential diagnosis – making this unique reference unparalleled in its wealth of clinical and histopathological material. The 5th Edition of this classic text is a must-have resource for practicing dermatopathologists and general pathologists who sign out skin biopsies. - Covers pathological aspects of skin diseases in addition to providing superb descriptions and illustrations of their clinical manifestations – the only available reference with this unique combination of features. - Integrates dermatopathology, clinical correlations, and clinical photographs throughout, and features bulleted lists of clinical features and differential diagnosis tables for easy reference. - Contains more than 5,000 superb histopathologic and clinical illustrations that demonstrate the range of histologic manifestations. - Brings you fully up to date with key molecular aspects of disease, the capabilities and limitations of molecular diagnostics, and targeted/personalized medicine. - Features up-to-date information on biologics, drug eruptions, and other developments in therapeutics. - Helps you stay current with the latest diagnostic tumor markers and other new developments in immunohistochemistry. - Includes a completely revised chapter on cutaneous lymphoma that reflects recent WHO-EORTC classification changes, as well as new coverage of sentinel lymph node biopsy for melanoma. - Shares the knowledge of the main editor Dr. J. Eduardo Calonje, along with co-editors Thomas Brenn, and Alexander Lazar, and new co-editor Steven D. Billings who offers expertise on both dermatopathology and soft tissue tumors. - Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy. - Shows how to define the inheritance and formation of cytogenetically visible copy number variations using cytogenetic and molecular approaches for genetic diagnostics, patient counseling, and treatment plan development - Uniquely classifies all known variants by chromosomal origin, saving time and money for researchers in reviewing benign and pathologic variants before costly molecular methods are used to investigate - Side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques
This book is a unique source of information on the present state of the exciting field of molecular cytogenetics and how it can be applied in research and diagnostics. The basic techniques of fluorescence in situ hybridization and primed in situ hybridization (PRINS) are outlined, the multiple approaches and probe sets that are now available for these techniques are described, and applications of them are presented in 36 chapters by authors from ten different countries around the world. The book not only provides the reader with basic and background knowledge on the topic, but also gives detailed protocols that show how molecular cytogenetics is currently performed by specialists in this field. The FISH Application Guide initially provides an overview of the (historical) development of molecular cytogenetics, its basic procedures, the equipment required, and probe generation. The book then describes tips and tricks for making different tissues available for molecular cytogenetic studies. These are followed by chapters on various multicolor FISH probe sets, their availability, and their pot- tial for use in combination with other approaches. The possible applications that are shown encompass the characterization of marker chromosomes, cryptic cytogenetic aberrations and epigenetic changes in humans by interphase and metaphase cyto- netics, studies of nuclear architecture, as well as the application of molecular cytogenetics to zoology, botany and microbiology.
Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.
This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.
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