This comprehensive encyclopedic reference provides rapid and focused information about topics of cancer research for the clinical and basic scientist, students and informed laymen. It will be readily accessible, both electronically and in print, such that it will be of value to both the scientific community and the public.
This new edition now titled “Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis” provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding the discussion of microarray analysis in the previous edition of the book, are new chapters on microarray and genomic analysis, plus comprehensive tables on the subtle microdeletions and microduplications that are found on each chromosome, including 235 recurring copy number variants that are associated with well-established or emerging chromosomal syndromes. The current edition features concise information on cytogenetic methods and applications, extending these discussions to DNA analysis and genome sequencing. Sections on euchromatin, heterochromatin, FISH pattern, fragile site, copy number, and DNA sequence variation are integrated with actual clinical examples from cytogenetic laboratories and from clinical practice. The principles that allow for the distinction between benign chromosome / DNA variation and pathogenic heteromorphisms / polymorphisms are discussed and include references to the latest organizational guidelines and genomic or population databases. The two previous incarnations of this book: the ‘Atlas of Human Chromosome Heteromorphism’, and ‘Human Chromosome Variation: Heteromorphism and Polymorphism’ have been standard reference works in most cytogenetic laboratories, used by laboratory directors and clinicians all around the world. While widely used sections from the previous edition on cytogenetic technologies and heteromorphisms are retained intact the present volume adds extensive material on copy number variations (polymorphisms detected by microarray analysis), fragile sites in disease and cancer, and practical views on interpreting emerging technologies, including whole exome sequencing. This book should be of interest to clinicians, technicians and students who are or will be exposed to DNA and/or chromosome analysis and the data derived from these continuously developing techniques. This fully updated book volume will bring the reader up to speed on the latest technologies, their applications, benefits and drawbacks and as such, is a must read for anyone with an interest in DNA and chromosome analysis and the distinction between benign variation and pathogenic mistakes.
This open access book aims to provide a comprehensive but practical overview of the knowledge required for the assessment and management of the older adult with or at risk of fragility fracture. It considers this from the perspectives of all of the settings in which this group of patients receive nursing care. Globally, a fragility fracture is estimated to occur every 3 seconds. This amounts to 25 000 fractures per day or 9 million per year. The financial costs are reported to be: 32 billion EUR per year in Europe and 20 billon USD in the United States. As the population of China ages, the cost of hip fracture care there is likely to reach 1.25 billion USD by 2020 and 265 billion by 2050 (International Osteoporosis Foundation 2016). Consequently, the need for nursing for patients with fragility fracture across the world is immense. Fragility fracture is one of the foremost challenges for health care providers, and the impact of each one of those expected 9 million hip fractures is significant pain, disability, reduced quality of life, loss of independence and decreased life expectancy. There is a need for coordinated, multi-disciplinary models of care for secondary fracture prevention based on the increasing evidence that such models make a difference. There is also a need to promote and facilitate high quality, evidence-based effective care to those who suffer a fragility fracture with a focus on the best outcomes for recovery, rehabilitation and secondary prevention of further fracture. The care community has to understand better the experience of fragility fracture from the perspective of the patient so that direct improvements in care can be based on the perspectives of the users. This book supports these needs by providing a comprehensive approach to nursing practice in fragility fracture care.
This volume presents forty-two methods and protocols to analyze diverse aspects of genome instability. Chapters detail mutagenesis and repair, methods to quantify and analyze the properties of DNA double-strand breaks, profile replication, replication proteins strand-specifically, genome instability, fluorescence microscopic techniques, and genomic and proteomic approaches. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Genome Instability: Methods and Protocols aims to provide a comprehensive resource for the discovery and analysis of the proteins and pathways that are critical for stable maintenance of the genome.
Fragile X Syndrome: From Genetics to Targeted Treatment provides a structured overview of the molecular and clinical background of the disorder as well as treatment options. The book discusses the detailed molecular information on each of the pathways involved with sufficient details for all whose research touches this pathway. It provides a state-of-the-art update on all clinical aspects associated with this syndrome, including phenotype, diagnostics and epidemiology. It also includes an overview of the lessons learned from the preclinical research and pioneering trials on the fragile X syndrome for the investigators involved in clinical trials of neurodevelopmental disorders. This book is written for academic researchers, pharmaceutical investigators, and clinicians in the field who work on the disorder, and for researchers involved in clinical trials of the fragile X syndrome or related disorders. "This fascinating book, edited by Rob Willemsen and Frank Kooy, summarizes the current knowledge of the molecular aspects of fragile X syndrome (FXS), andthe potential for therapies resulting from this knowledge...Particularly interesting is a review "fragile X research from a parental perspective, which summarizes the results of an international survey of the attitudes of families with FXS relatives towards research...This book is also an essential reference book for genetic counselors...The book provides counselors with the necessary biological background for proper explanations to the relatives of FXS patients. Many parents acquire a substantial knowledge of the conditions afflicting their children. The book will be helpful for both families and counselors to manage the expectations of families participating in clinical trials...In conclusion, this book is essential for everyone who is involved in the diagnosis and treatment of FXS patients. - European Journal of Human Genetics (September 2018) - Provides a comprehensive overview of the molecular genetics, clinical trials, and treatment of Fragile X Syndrome - Written for academic researchers, pharmaceutical investigators, and clinicians in the field - Edited by international leaders in the field who have contributed greatly to the study of Fragile X Syndrome - Directs the reader through complex issues surrounding FXS and draws the literature together for researchers and clinicians
Based on the author's more than twenty years of teaching experience, Genetics: A Conceptual Approach offers a fresh new way of introducing the major concepts and mechanics of genetics, focusing students on the big picture without overwhelming them with detail.
This publication combines and extends the now classic system of human cytogenetic nomenclature prepared by expert committees and published in collaboration with Cytogenetic and Genome Research (formerly: Cytogenetics and Cell Genetics ) since 1963. Revised and finalized by the ISCN Committee and its advisors at a meeting in Vancouver, BC, in December 2004, it updates, corrects and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication. It thus supersedes the previous compilations in ISCN 1985 and its supplement, ISCN 1991 , the Guidelines for Cancer Cytogenetics , and ISCN 1995 . What s new in ISCN 2005? the G- and R-banded karyotypes have been replaced by new ones reflecting higher band-level resolutions new ideograms at the 300-band and 700-band level have been added the in situ hybridization nomenclature has been modernized, simplified, and expanded new examples reflecting unique situations are included a basic nomenclature for recording array comparative genomic hybridization results is introduced ISCN 2005 also contains a detachable fold-out of the normal human karyotype, consisting of photographs of G-banded and R-banded chromosomes at the commonly examined 550-band resolution stage and their diagrammatic representations a useful aid for human cytogeneticists, technicians, and students.
In The Fragile Balance of Terror, the foremost experts on nuclear policy and strategy offer insight into an era rife with more nuclear powers. Some of these new powers suffer domestic instability, others are led by pathological personalist dictators, and many are situated in highly unstable regions of the world—a volatile mix of variables. The increasing fragility of deterrence in the twenty-first century is created by a confluence of forces: military technologies that create vulnerable arsenals, a novel information ecosystem that rapidly transmits both information and misinformation, nuclear rivalries that include three or more nuclear powers, and dictatorial decision making that encourages rash choices. The nuclear threats posed by India, Pakistan, Iran, and North Korea are thus fraught with danger. The Fragile Balance of Terror, edited by Vipin Narang and Scott D. Sagan, brings together a diverse collection of rigorous and creative scholars who analyze how the nuclear landscape is changing for the worse. Scholars, pundits, and policymakers who think that the spread of nuclear weapons can create stable forms of nuclear deterrence in the future will be forced to think again. Contributors: Giles David Arceneaux, Mark S. Bell, Christopher Clary, Peter D. Feaver, Jeffrey Lewis, Rose McDermott, Nicholas L. Miller, Vipin Narang, Ankit Panda, Scott D. Sagan, Caitlin Talmadge, Heather Williams, Amy Zegart
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.
