Download or read book Cassidy and Allanson s Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Download or read book Human Achondroplasia written by Benedetto Nicoletti and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 471 pages. Available in PDF, EPUB and Kindle. Book excerpt: Proceedings of the first international symposium held in Rome, Nov. 1986, study the problems of shortness of stature and attempt to find answers to the life-threatening and disabling impairments that affect achondroplasts. Contributions address genetics, ultrastructure, and cartilage histochemistry;

Download or read book Scientific Frontiers in Developmental Toxicology and Risk Assessment written by National Research Council and published by National Academies Press. This book was released on 2000-12-21 with total page 348 pages. Available in PDF, EPUB and Kindle. Book excerpt: Scientific Frontiers in Developmental Toxicology and Risk Assessment reviews advances made during the last 10-15 years in fields such as developmental biology, molecular biology, and genetics. It describes a novel approach for how these advances might be used in combination with existing methodologies to further the understanding of mechanisms of developmental toxicity, to improve the assessment of chemicals for their ability to cause developmental toxicity, and to improve risk assessment for developmental defects. For example, based on the recent advances, even the smallest, simplest laboratory animals such as the fruit fly, roundworm, and zebrafish might be able to serve as developmental toxicological models for human biological systems. Use of such organisms might allow for rapid and inexpensive testing of large numbers of chemicals for their potential to cause developmental toxicity; presently, there are little or no developmental toxicity data available for the majority of natural and manufactured chemicals in use. This new approach to developmental toxicology and risk assessment will require simultaneous research on several fronts by experts from multiple scientific disciplines, including developmental toxicologists, developmental biologists, geneticists, epidemiologists, and biostatisticians.

Download or read book Restricted Growth written by Maria del Carmen Cardenas-Aguayo and published by BoD – Books on Demand. This book was released on 2016-10-12 with total page 176 pages. Available in PDF, EPUB and Kindle. Book excerpt: Restricted growth conditions are a group of genetic disorders with primary effect on growth (short stature); it is very heterogeneous and comprises two important categories: skeletal dysplasia and different genetic syndromes with primary effect on growth. It could also be caused by a medical condition. The book contains chapters regarding different aspects of the study of restricted growth that are divided into three broad sections. Section I: Defining Restricted Growth, Section II: Genetics and Diagnosis of Restricted Growth, and Section III: Signaling Pathways and Molecular Mechanisms of Restricted Growth. The book presents comprehensive reviews of each topic written by experts in the field. It will be the most valuable tool for physicians and life science researchers and students. We hope that the book will motivate discussion and research in this important health problem, setting the path for better therapeutic approaches.

Download or read book Annual Commencement written by Stanford University and published by . This book was released on 2002 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book An Introduction to Human Molecular Genetics written by Jack J. Pasternak and published by John Wiley & Sons. This book was released on 2005-06-14 with total page 656 pages. Available in PDF, EPUB and Kindle. Book excerpt: An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expandsits coverage of the molecular genetics of inherited human diseaseswith the latest research findings and discoveries. Using a unique,systems-based approach, the text offers readers a thoroughexplanation of the gene discovery process and how defective genesare linked to inherited disease states in major organ and tissuesystems. All the latest developments in functional genomics,proteomics, and microarray technology have been thoroughlyincorporated into the text. The first part of the text introduces readers to the fundamentalsof cytogenetics and Mendelian genetics. Next, techniques andstrategies for gene manipulation, mapping, and isolation areexamined. Readers will particularly appreciate the text'sexceptionally thorough and clear explanation of genetic mapping.The final part features unique coverage of the molecular geneticsof distinct biological systems, covering muscle, neurological, eye,cancer, and mitochondrial disorders. Throughout the text, helpfulfigures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text'ssame lucid and engaging style, and will find a wealth of new andexpanded material that brings them fully up to date with a currentunderstanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting,and human population genetics * Expanded and fully revised section on clinical genetics, coveringdiagnostic testing, molecular screening, and varioustreatments This text is targeted at upper-level undergraduate students,graduate students, and medical students. It is also an excellentreference for researchers and physicians who need a clinicallyrelevant reference for the molecular genetics of inherited humandiseases.

Download or read book Osteogenesis Imperfecta written by Javaid Kassim and published by Academic Press. This book was released on 2013-08-06 with total page 578 pages. Available in PDF, EPUB and Kindle. Book excerpt: Osteogenesis Imperfecta is the first translational reference professionals can turn to for a source of comprehensive information on this disorder. Although several reviews of the field have been published in various journals, there is no other single source for a compendium of current information. Separate chapters discuss each of the several clinical features of OI. Ethical issues related to OI are discussed, as is the importance of nutrition in managing the OI child and the OI adult. The role of physical medicine and rehabilitation for OI patients is also presented, along with the current status of OI medical treatment and the prospects for genetic engineering in the future. The text also provides the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI. - Incorporates chapters and information on the ethical issues related to osteogenesis imperfecta (OI) as will the importance of nutrition in managing the OI child and the OI adult - Offers new insights into the underlying mechanisms of collagen biochemistry as related to OI as well as a presentation of intracellular collagen processing and the expanded role of protein chaperones in OI - Discusses the role of physical medicine and rehabilitation for OI patients and the current status of OI medical treatment as well as prospects for genetic engineering in the future - Provides a unique overview for the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI

Download or read book Genetics Abstracts written by and published by . This book was released on 1999 with total page 746 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Autism and the Environment written by Institute of Medicine and published by National Academies Press. This book was released on 2008-03-12 with total page 358 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism spectrum disorders (ASD) constitute a major public health problem, affecting one in every 150 children and their families. Unfortunately, there is little understanding of the causes of ASD, and, despite their broad societal impact, many people believe that the overall research program for autism is incomplete, particularly as it relates to the role of environmental factors. The Institute of Medicine's Forum on Neuroscience and Nervous System Disorders, in response to a request from the U.S. Secretary of Health and Human Services, hosted a workshop called "Autism and the Environment: Challenges and Opportunities for Research." The focus was on improving the understanding of the ways in which environmental factors such as chemicals, infectious agents, or physiological or psychological stress can affect the development of the brain. Autism and the Environment documents the concerted effort which brought together the key public and private stakeholders to discuss potential ways to improve the understanding of the ways that environmental factors may affect ASD. The presentations and discussions from the workshop that are described in this book identify a number of promising directions for research on the possible role of different environmental agents in the etiology of autism.

Download or read book Hereditary Effects of Radiation written by United Nations. Scientific Committee on the Effects of Atomic Radiation and published by The Committee. This book was released on 2001 with total page 166 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2001 report completed a comprehensive review of the risks to offspring following parental exposure to radiation. The review included an evaluation of those diseases which have both hereditary and environmental components. The major finding is that the total hereditary risk to the first generation following radiation is less than one tenth of the risk of fatal carcinogenesis following irrradiation. The Committee concluded that a sounder basis now exists for estimating the hereditary risks of radiation exposure. This is due to advances in molecular genetics, and in the evaluation of multifactorial diseases, such as coronary heart disease.

Download or read book Principles and Practice of Fertility Preservation written by Jacques Donnez and published by Cambridge University Press. This book was released on 2011-02-03 with total page 569 pages. Available in PDF, EPUB and Kindle. Book excerpt: The specialty of fertility preservation offers patients with cancer, who are rendered infertile by chemo- and radiotherapy, the opportunity to realize their reproductive potential. This gold-standard publication defines the specialty. The full range of techniques and scientific concepts is covered in detail, and the author team includes many of the world's leading experts in the field. The book opens with introductions to fertility preservation in both cancer and non-cancer patients, followed by cancer biology, epidemiology and treatment, and reproductive biology and cryobiology. Subsequent sections cover fertility preservation strategies in males and females, including medical/surgical procedures, ART, cryopreservation and transplantation of both ovarian tissue and the whole ovary, and in-vitro follicle growth and maturation. Concluding chapters address future technologies, as well as ethical, legal and religious issues. Richly illustrated throughout, this is a key resource for all clinicians specializing in reproductive medicine, gynecology, oncology, hematology, endocrinology and infertility.

Download or read book Next Generation Genome Sequencing written by Michal Janitz and published by John Wiley & Sons. This book was released on 2011-08-24 with total page 281 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by leading experts from industry and academia, this first single comprehensive resource addresses recent developments in next generation DNA sequencing technology and their impact on genome research, drug discovery and health care. As such, it presents a detailed comparative analysis of commercially available platforms as well as insights into alternative, emerging sequencing techniques. In addition, the book not only covers the principles of DNA sequencing techniques but also social, ethical and commercial aspects, the concept of personalized medicine and a five-year perspective of DNA sequencing.

Download or read book Index Medicus written by and published by . This book was released on 2004 with total page 2164 pages. Available in PDF, EPUB and Kindle. Book excerpt: Vols. for 1963- include as pt. 2 of the Jan. issue: Medical subject headings.

Download or read book The Genetic Gods written by John C. Avise and published by Harvard University Press. This book was released on 2009-06-30 with total page 289 pages. Available in PDF, EPUB and Kindle. Book excerpt: They mastermind our lives, shaping our features, our health, and our behavior, even in the sacrosanct realms of love and sex, religion, aging, and death. Yet we are the ones who house, perpetuate, and give the promise of immortality to these biological agents, our genetic gods. The link between genes and gods is hardly arbitrary, as the distinguished evolutionary geneticist John Avise reveals in this compelling book. In clear, straightforward terms, Avise reviews recent discoveries in molecular biology, evolutionary genetics, and human genetic engineering, and discusses the relevance of these findings to issues of ultimate concern traditionally reserved for mythology, theology, and religious faith. The book explains how the genetic gods figure in our development--not just our metabolism and physiology, but even our emotional disposition, personality, ethical leanings, and, indeed, religiosity. Yet genes are physical rather than metaphysical entities. Having arisen via an amoral evolutionary process--natural selection--genes have no consciousness, no sentient code of conduct, no reflective concern about the consequences of their actions. It is Avise's contention that current genetic knowledge can inform our attempts to answer typically religious questions--about origins, fate, and meaning. The Genetic Gods challenges us to make the necessary connection between what we know, what we believe, and what we embody. Table of Contents: Preface Prologue 1. The Doctrines of Biological Science 2. Geneses 3. Genetic Maladies 4. Genetic Beneficence 5. Strategies of the Genes 6. Genetic Sovereignty 7. New Lords of Our Genes? 8. Meaning Epilogue Notes Glossary Index Reviews of this book: Our genes, [Avise] says, are responsible not only for how we got here and exist day to day, but also for the core of our being--our personalities and morals. It is our genetic make-up that allows for and formulates our religious belief systems, he argues. Avise does not eschew spirituality but seeks a more informed, less confrontational approach between science and the pulpit. --Science News Reviews of this book: For the general scientific reader, the book is an excellent distillation of a broad and increasingly important field, a course of causation that cannot be ignored. From advising expectant parents to getting innocent people off death row, genetics increasingly dominates our lives. The sections on genetics are expertly written, particularly for those readers without in-depth knowledge. The author explains slowly and carefully just how genetics operates, using multiple metaphors. His genetic discourse proceeds in a neighborly fashion, as one might tell stories while sitting in a rocking chair at a country store. He seems to be invigorated by genes and just can't wait to tell about them. --David W. Hodo, Journal of the American Medical Association Reviews of this book: As a whole, this book is quite informative and stimulating, and sections of it are beautifully written. Indeed, Professor Avise has a real gift for prose and scientific expositions, and I would suspect that he must be a formidable lecturer...At its core, [The Genetic Gods] is a survey, and a very nice one at that, of evolutionary genetics, the field of the author's major research interests. There is a strong sociobiological cast to the arguments, and the work and ideas of E. O. Wilson figure prominently. The presentation of evolutionary genetics is imbedded in a more general discussion of modern human and molecular genetics...However, this book is, most of all, a philosophical treatise that attempts, admittedly with the bias of a biologist, to examine the intersection of the fundamental premises of evolution and religion. Professor Avise has given us plenty to think about in this book [and]...it was a real pleasure to wrestle with the ideas he was presenting. I would suggest that other readers give it a try. --Charles J. Epstein, Trends in Genetics Reviews of this book: [Avise's] account of the role genes play in shaping the human condition is wholly involving, paying particular attention to issues of reproduction, aging and death. In addition to presenting ample biological information in a form accessible to the nonspecialist, Avise does a superb job of discussing many of the ethical implications that have arisen from our growing knowledge of human genetics. Just a few of the topics covered are genetic engineering, the patenting of life, genetic screening, abortion, human cloning, gene therapy and insurance-related controversies. --Publishers Weekly Reviews of this book: Avise explains thoroughly how evolution operates on a genetic level. His goal is to show that humans can look to this information as a way to answer fundamental questions of life instead of looking to traditional religious beliefs...Avise includes some very interesting discussions of ethical concerns related to genetic issues. --Eric D. Albright, Library Journal This is a splendid account of a subject that affects us all: the breathtaking increase in understanding of human genetics and the insight it provides into human evolution. John Avise speaks with authority of molecular evolutionary genetics and with affecting compassion of what it might mean. --Douglas J. Futuyma, State University of New York at Stony Brook The Genetic Gods is many things. It is a wonderful introduction to modern molecular biology, by a man who knows his subject backwards. It is a stimulating account of the ways in which genetics impinges on human nature--our thinking and our behavior. It is a remarkably level-headed and sympathetic account of the implications of our new findings for traditional and not-so-traditional issues in philosophy and religion. In an age of genetic counseling, cloning, construction of new life forms, the book is worth its weight in gold for this alone. But most of all, it is a huge amount of fun to read--you want to applaud or argue with the author on nigh every page. Highly recommended! --Michael Ruse, University of Guelph The Genetic Gods makes a valuable contribution to the on-going task of sorting out the implications of evolutionary biology and genetics for human self-understanding. Avise addresses, with authority and grace, the most consequential intellectual issues of our time. A challenging and insightful book. --Loyal Rue, Harvard University A wonderfully informative and engaging book. Avise offers a lucid, accessible primer on our genes, angelic and demonic, and examines religious and ethical issues, all too human, now confronted by genetic science. He makes a compelling case that anyone seeking to 'Know Thyself' should study the DNA molecular scriptures, our most ancient and universal legacy. --Dudley Herschbach, Harvard University, Nobel Laureate in Chemistry

Download or read book Molecular Genetic Pathology written by Liang Cheng and published by Springer. This book was released on 2013-03-05 with total page 1136 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular Genetic Pathology, Second Edition presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology. Fully updated in each area and expanded to include identification of new infectious agents (H1N1), new diagnostic biomarkers and biomarkers for targeted cancer therapy. This edition is also expanded to include the many new technologies that have become available in the past few years such as microarray (AmpliChip) and high throughput deep sequencing, which will certainly change the clinical practice of molecular genetic pathology. Part I examines the clinical aspects of molecular biology and technology, genomics. Poharmacogenomics and proteomics, while Part II covers the clinically relevant information of medical genetics, hematology, transfusion medicine, oncology, and forensic pathology. Supplemented with many useful figures and presented in a helpful bullet-point format, Molecular Genetic Pathology, Second Edition provides a unique reference for practicing pathologists, oncologists, internists, and medical genetisists. Furthermore, a book with concise overview of the field and highlights of clinical applications will certainly help those trainees, including pathology residents, genetics residents, molecular pathology fellows, internists, hematology/oncology fellows, and medical technologists in preparing for their board examination/certification.

Download or read book Bone Pathology written by Jasvir S. Khurana and published by Springer Science & Business Media. This book was released on 2009-12-02 with total page 419 pages. Available in PDF, EPUB and Kindle. Book excerpt: Bone Pathology is the second edition of the book, A Compendium of Skeletal Pathology that published 10 years ago. Similar to the prior edition, this book complements standard pathology texts and blends new but relatively established information on the molecular biology of the bone. Serving as a bench-side companion to the surgical pathologist, this new edition reflects new advances in our understanding of the molecular biology of bone. New chapters on soft-tissue sarcomas and soft-tissue tumors have been added as well as several additional chapters such as Soft-tissue pathology and Biomechanics. The volume is written by experts who are established in the field of musculoskeletal diseases. Bone Pathology is a combined effort from authors of different specialties including surgeons, pathologists, radiologists and basic scientists all of whom have in common an interest in bone diseases. It will be of great value to surgical pathology residents as well as practicing pathologists, skeletal radiologists, orthopedic surgeons and medical students.

Download or read book Human Genome Editing written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2017-08-13 with total page 329 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genome editing is a powerful new tool for making precise alterations to an organism's genetic material. Recent scientific advances have made genome editing more efficient, precise, and flexible than ever before. These advances have spurred an explosion of interest from around the globe in the possible ways in which genome editing can improve human health. The speed at which these technologies are being developed and applied has led many policymakers and stakeholders to express concern about whether appropriate systems are in place to govern these technologies and how and when the public should be engaged in these decisions. Human Genome Editing considers important questions about the human application of genome editing including: balancing potential benefits with unintended risks, governing the use of genome editing, incorporating societal values into clinical applications and policy decisions, and respecting the inevitable differences across nations and cultures that will shape how and whether to use these new technologies. This report proposes criteria for heritable germline editing, provides conclusions on the crucial need for public education and engagement, and presents 7 general principles for the governance of human genome editing.