Download or read book Congenital Bleeding Disorders written by Akbar Dorgalaleh and published by Springer. This book was released on 2018-07-25 with total page 397 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book describes in detail the clinical presentation, diagnosis, and management of a wide range of congenital bleeding disorders. It will assist readers in overcoming the significant challenges involved in clinical and laboratory diagnosis and in providing effective clinical care that makes optimal use of new products, including recombinant factor concentrate. The coverage ranges from hemophilia A and B and von Willebrand disease to rare bleeding disorders such as congenital factor V, factor X, factor XI, and factor XIII deficiency and inherited platelet function disorders. The exceptional attention to rarer conditions is of particular importance given the considerable risk of overlooking them during diagnosis, with potential consequences for disease-related morbidity and mortality. The authors are acknowledged specialists in the field from across the world who have particular expertise in the disorder that they discuss. The book will be of value to hematologists, oncologists, pediatricians, laboratory specialists and technicians, general physicians, and trainees.
Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Download or read book Consultative Hemostasis and Thrombosis E Book written by Craig S. Kitchens and published by Elsevier Health Sciences. This book was released on 2013-02-20 with total page 843 pages. Available in PDF, EPUB and Kindle. Book excerpt: A unique clinical focus makes Consultative Hemostasis and Thrombosis, 3rd Edition your go-to guide for quick, practical answers on managing the full range of bleeding and clotting disorders. Emphasizing real-world problems and solutions, Dr. Craig S. Kitchens, Dr. Barbara A. Konkle, and Dr. Craig M. Kessler provide all the clinical guidance you need to make optimal decisions on behalf of your patients and promote the best possible outcomes. Consult this title on your favorite e-reader with intuitive search tools and adjustable font sizes. Elsevier eBooks provide instant portable access to your entire library, no matter what device you're using or where you're located. Efficiently look up concise descriptions of each condition, its associated symptoms, laboratory findings, diagnosis, differential diagnosis, and treatment. Get the latest information on hot topics such as Disseminated Intravascular Coagulation, Thrombophilia, Clinical and Laboratory Assessment and Management, Thrombotic -Thrombocytopenic Purpura, and Heparin-Induced Thrombocytopenia. Apply today’s newest therapies, including those that are quickly becoming standard in this fast-changing field. Meet the needs of specific patient groups with a new chapter on Bleeding and the Management of Hemorrhagic Disorders in Pregnancy and an extensively updated chapter on Thrombosis and Cancer. Zero in on key information with a new user-friendly design, and all-new full-color format, abundant laboratory protocols, and at-a-glance tables and charts throughout.
Download or read book The Genetics of Cancer written by B.A. Ponder and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 222 pages. Available in PDF, EPUB and Kindle. Book excerpt: It has been recognized for almost 200 years that certain families seem to inherit cancer. It is only in the past decade, however, that molecular genetics and epidemiology have combined to define the role of inheritance in cancer more clearly, and to identify some of the genes involved. The causative genes can be tracked through cancer-prone families via genetic linkage and positional cloning. Several of the genes discovered have subsequently been proved to play critical roles in normal growth and development. There are also implications for the families themselves in terms of genetic testing with its attendant dilemmas, if it is not clear that useful action will result. The chapters in The Genetics of Cancer illustrate what has already been achieved and take a critical look at the future directions of this research and its potential clinical applications.
Download or read book Hemostasis and Thrombosis written by Victor J. Marder and published by Lippincott Williams & Wilkins. This book was released on 2012-12-27 with total page 5220 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since publication of the First Edition in 1982, Hemostasis and Thrombosis has established itself as the pre-eminent book in the field of coagulation disorders. No other book is as inclusive in scope, with coverage of the field from the standpoint of both basic scientists and clinicians. This comprehensive resource details the essentials of bleeding and thrombotic disorders and the management of patients with these and related problems, and delivers the most up-to-date information on normal biochemistry and function of platelets or endothelial cells, as well as in-depth discussions of the pharmacology of anticoagulant, fibrinolytic, and hemostatic drugs. NEW to the Sixth Edition... • A new team of editors, each a leader in his field, assures you of fresh, authoritative perspectives. • Full color throughout • A companion website that offers full text online and an image bank. • A new introductory section of chapters on basic sciences as related to the field • Entirely new section on Hemostatic and Thrombotic Disorders Associated with Systemic Conditions includes material on pediatric patients, women's health issues, cancer, sickle cell disease, and other groups. • Overview chapters preceding each section address broad topics of general importance. This is the tablet version which does not include access to the supplemental content mentioned in the text.
Download or read book The Metabolic Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Download or read book Human Genetics and Genomics written by Bruce R. Korf and published by John Wiley & Sons. This book was released on 2012-11-19 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.
Download or read book Oxford Handbook of Genetics written by Guy Bradley-Smith and published by Oxford University Press, USA. This book was released on 2010 with total page 486 pages. Available in PDF, EPUB and Kindle. Book excerpt: This handbook provides accessible information on specific genetic diseases, and possible genetic components of major diseases, for the primary health care team and junior doctor in training. It assists with why, when, and where to refer patients, and affected families, to get the best advice about genetic disease.
Download or read book Disorders of Hemoglobin written by Martin H. Steinberg and published by Cambridge University Press. This book was released on 2009-08-17 with total page 883 pages. Available in PDF, EPUB and Kindle. Book excerpt: Completely revised new edition of the definitive reference on disorders of hemoglobin.
Download or read book The Genetics of Alcoholism written by Henri Begleiter and published by Alcohol and Alcoholism. This book was released on 1995 with total page 420 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume provides an in-depth look at the genetic influences that contribute to the development of alcoholism. Part I: Epidemiologic Studies contains five chapters that examine the various approaches employed in the study of the genetics of alcoholism. It provides a historical perspective and details all the essentials of this subject. Part II: Selective Breeding Studies highlights the results of research involving the selective breeding of rodents. This type of research has produced homogenous strains exhibiting specific behavioral responses considered significant in the development and maintenance of alcohol dependence. The studies presented in Part III: Phenotypic Studies investigate and analyze phenotypic markers that serve as correlates to the genotypic determinants of alcoholism. Through its broad scope, this volume provides for the first time a panoramic view of the knowledge available on the hereditary influences of alcoholism.
Download or read book Molecular Hematology written by Drew Provan and published by John Wiley & Sons. This book was released on 2024-03-05 with total page 452 pages. Available in PDF, EPUB and Kindle. Book excerpt: Provides a core knowledgebase for those with minimal exposure to hematologic molecular biology, fully revised and updated Molecular Hematology brings together the most up-to-date and reliable information on the molecular basis of major hematologic diseases. Edited and authored by leading experts in the field, this volume demonstrates the clinical relevance of molecular biology in the diagnosis and treatment of blood disorders. Concise, accessible chapters address key topics in modern hematology, such as lymphoma genetics, molecular coagulation, thrombophilia, pharmacogenomics, platelet disorders, hemophilia, anemia, and multiple myeloma. Chapters introduce and summarize specific hematologic diseases, explore the pathogenesis of the disorder, highlight new and emerging molecular strategies, and more. Now in its fifth edition, Molecular Hematology is fully revised to incorporate contemporary hematology research and practice. Entirely new chapters cover topics such as CAR-T cell technology, COVID, cancer cell biology, gene therapy and gene editing in clinical practice, as well as the impact of molecular research on the diagnosis and treatment of various malignant hematologic diseases. This edition includes updated suggested readings and a wealth of new full-color charts, graphs, and illustrations throughout. Covers the molecular biology of different blood diseases, their pathogeneses, and current molecular research and therapies Illustrates the impact of molecular research on hematologic investigations and therapeutics Discusses how progress in basic science and therapeutics has improved the diagnosis and care of patients with various hematologic disorders Surveys recent developments in cancer-cell biology, with an emphasis on leukemia and lymphoma Includes access to a companion Digital Edition providing search across the book, downloadable illustrations, and notation tools Molecular Hematology is a must-have resource for established and trainee clinicians, clinical scientists and researchers, medical students, and upper-level undergraduates in the fields of hematology, oncology, and molecular biology.
Download or read book Genes Behavior and the Social Environment written by Institute of Medicine and published by National Academies Press. This book was released on 2006-11-07 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.
Download or read book The Chromosome 22q11 2 Deletion Syndrome written by Donna M. McDonald-McGinn and published by Academic Press. This book was released on 2022-08-19 with total page 526 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology, prognosis, and recurrence risk associated with the chromosome 22q11.2 deletion syndrome. Leading international contributors cover the background, genetics, testing methods, and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in every applicable subspecialty, such as, cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology, neurology, and psychiatry, among other fields. This book presents an authoritative resource with full color images that enhance concept illustration and aid in real-time decision-making. As 22q11.2 deletion syndrome has become a model for understanding rare and frequent anomalies, numerous medical issues, cognitive and behavioral phenotypes, and later onset conditions, this text will become the go to resource for clinicians, researchers, trainees, and motivated family members, in gaining a full understanding of this complex chromosomal disorder. - Provides a complete description of 22q11.2 deletion syndrome for healthcare professionals, researchers, trainees, and families affected by this common condition - Presents diagnostic and treatment strategies to help tackle this complex and often undiagnosed and therefore undertreated condition - Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest clinical experience and research in the field - Features leading international contributors in numerous sub-specialties, representing the multisystem nature of this condition - Includes full color figures, flow charts, tables, and patient images to guide real-time decision-making
Download or read book Retinal Degenerative Diseases written by Matthew M. LaVail and published by Springer Science & Business Media. This book was released on 2011-12-21 with total page 867 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book will contain the proceedings of the XIV International Symposium on Retinal Degeneration (RD2010), held July 13-17, 2010, in Mont-Tremblant, Quebec, Canada. The volume will present representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy.
Download or read book Genetics of Mitochondrial Diseases written by Ian James Holt and published by . This book was released on 2023 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This text summarises the advances in human mitochondrial genetics made at the end of the 20th century. Numerous mutations of mitochondrial DNA have been discovered as well as mitochondrial diseases, which have been linked to a number of nuclear gene mutations.
Download or read book Genetics in the Clinic written by Mary Briody Mahowald and published by . This book was released on 2001 with total page 324 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics in the Clinicprovides a broad understanding of advances in genetics and their implications for primary care practice. The book begins with basic concepts in genetics, diagnosis and management of genetic disease, cancer genetics, and prenatal testing. Part Two deals with topics relevant to all areas of primary care, such as cultural and ethnic differences, the role of the nurse, and genetic counselling. Part Threeaddresses ethical or social issues applicable to specific practices. The book's final section considers regulatory matters, including the impact of managed care and insurance and employment issues. Practitioners who are knowledgeable about health care, but who have no special training in genetics, will find this book especially useful as they learn to deal with the clinical, ethical, and social implications of advances in genetics for their practice. Thoroughly explains how to obtain a useful family history, what kind of genetic tests to order and when, how to counsel parents about testing of children, how to counsel for late onset or susceptibility conditions, and how to identify those for whom cancer risk or other risk testing is appropriate. Expert perspectives on disability, ethnic, gender, and class differences, reflecting the wide variety of patients seen by today's practitioners. Glossary of genetic terms and extensive bibliography of print and electronic sources - useful for clinicians who want to update their practice or for explaining complex terminology to patients. Dr. McKusick is world-renowned for his expertise in the field of human genetics and specific genetic conditions. Contributors have been trained in various areas of primary care: obstetrics, paediatrics, family medicine, internal medicine, and nursing
Download or read book Molecular Biology of the Cell written by and published by . This book was released on 2002 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
