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 Ehlers Danlos Syndrome A Multidisciplinary Approach written by J.W.G. Jacobs and published by IOS Press. This book was released on 2018-08-14 with total page 370 pages. Available in PDF, EPUB and Kindle. Book excerpt: Generalized hypermobility has been known since ancient times, and a clinical description of Ehlers-Danlos syndrome (EDS) is said to have first been recorded by Hippocrates in 400 BC. Hypermobility syndromes occur frequently, but the wide spectrum of possible symptoms, coupled with a relative lack of awareness and recognition, are the reason that they are frequently not recognized, or remain undiagnosed. This book is an international, multidisciplinary guide to hypermobility syndromes, and EDS in particular. It aims to create better awareness of hypermobility syndromes among health professionals, including medical specialists, and to be a guide to the management of such syndromes for patients and practitioners. It is intended for use in daily clinical practice rather than as a reference book for research or the latest developments, and has been written to be understandable for any healthcare worker or educated patient without compromise to the scientific content. The book is organized as follows: chapters on classifications and genetics are followed by chapters on individual types, organ (system) manifestations and complications, and finally ethics and therapeutic strategies, with an appendix on surgery and the precautions which should attend it. A special effort has been made to take account of the perspective of the patient; two of the editors have EDS. The book will be of interest to patients with hypermobility syndromes and their families, as well as to all those healthcare practitioners who may encounter such syndromes in the course of their work.

Download or read book Pediatric Nephrology written by Ellis D. Avner and published by Springer Science & Business Media. This book was released on 2009-08-20 with total page 2059 pages. Available in PDF, EPUB and Kindle. Book excerpt: Here is an extensive update of Pediatric Nephrology, which has become the standard reference text in the field. It is global in perspective and reflects the international group of editors, who are well-recognized experts in pediatric nephrology. Within this text, the development of kidney structure and function is followed by detailed and comprehensive chapters on all childhood kidney diseases.

Download or read book Biologic Markers in Urinary Toxicology written by National Research Council and published by National Academies Press. This book was released on 1995-08-28 with total page 322 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diseases of the kidney, bladder, and prostate exact an enormous human and economic toll on the population of the United States. This book examines prevention of these diseases through the development of reliable markers of susceptibility, exposure, and effect and the promise that new technologies in molecular biology and sophisticated understanding of metabolic pathways, along with classical approaches to the study of nephrotoxicants and carcinogens, can be developed and prevention of the diseases achieved. The specific recommendations included in this book complement those made in the previous three volumes on biomarkers, Biologic Markers in Reproductive Toxicology (1989), Biologic Markers in Pulmonary Toxicology (1989), and Biologic Markers in Immunotoxicology (1991).

Download or read book Cystogenesis written by Jong Hoon Park and published by Springer. This book was released on 2016-10-12 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a highly prevalent hereditary renal disorder in which fluid-filled cysts are appeared in both kidneys. Main causative genes of ADPKD are PKD1 and PKD2, encoding for polycystin-1 (PC1) and polycystin-2 (PC2) respectively. Those proteins are localized on primary cilia and function as mechanosensor in response to the fluid flow, translating mechanistic stimuli into calcium signaling. With mutations either of PKD1 or PKD2, hyper-activated renal tubular epithelial cell proliferation is observed, followed by disrupted calcium homeostasis and aberrant intracellular cyclic AMP (cAMP) accumulation. Increased cell proliferation with fluid secretion leads to the development of thousands of epithelial-lined, fluid-filled cysts in kidneys. It is also accompanied by interstitial inflammation, fibrosis, and finally reaching end-stage renal disease (ESRD). In human ADPKD, the age at which renal failure typically occurs is later in life, however no specific targeted medications are available to cure ADPKD. Recently, potential therapeutic targets or surrogate diagnostic biomarkers for ADPKD are proposed with the advances in the understanding of ADPKD pathogenesis, and some of them were attempted for clinical trials. Herein, we will summarize genetic and epi-genetic molecular mechanisms in ADPKD progression, and overview the currently available biomarkers or potential therapeutic reagents suggested.

Download or read book Oxford Textbook of Clinical Nephrology written by Neil N. Turner and published by Oxford University Press. This book was released on 2015-10-29 with total page 3045 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fourth edition of the Oxford Textbook of Clinical Nephrology builds on the success and international reputation of the publication as an important resource for the practising clinician in the field. It provides practical, scholarly, and evidence-based coverage of the full spectrum of clinical nephrology, written by a global faculty of experts. The most relevant and important reference to clinical nephrology, this is an authoritative and comprehensive textbook combining the clinical aspects of renal disease essential to daily clinical practice with extensive information about the underlying basic science and current evidence available. Each section of the textbook has been critically and comprehensively edited under the auspices of a leading expert in the field. This new edition has been significantly expanded and reapportioned to reflect developments and new approaches to topics, and includes treatment algorithms to aid and enhance patient care where possible. The fourth edition offers increased focus on the medical aspects of transplantation, HIV-associated renal disease, and infection and renal disease, alongside entirely new sections on genetic topics and clinical and physiological aspects of fluid/electrolyte and tubular disorders. The emphasis throughout is on marrying advances in scientific research with clinical management. Richly illustrated throughout in full colour, this is a truly modern and attractive edition which reinforces the Oxford Textbook of Clinical Nephrology's position as an indispensable reference work of consistent quality and reliability. Enriched and refined by careful revision, this new edition continues the tradition of excellence. This print edition of The Oxford Textbook of Clinical Nephrology comes with a year's access to the online version on Oxford Medicine Online. By activating your unique access code, you can read and annotate the full text online, follow links from the references to primary research materials, and view, enlarge and download all the figures and tables. Oxford Medicine Online is mobile optimized for access when and where you need it.

Download or read book Clues in the Diagnosis of Non tumoral Testicular Pathology written by Manuel Nistal and published by Springer. This book was released on 2017-03-07 with total page 378 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents the morphology of different non-tumoral lesions of the testis. By showing the differential diagnosis of each lesion, it offers clinicians vital support with diagnosis and treatment. The book is divided into seven main parts: genetic and developmental pathology of the testis; infertility; vascular pathology of the testis; inflammatory pathology; pathology of the rete testis and epididymis; pathology of the vaginal tunic and paratesticular structures; and a final part dealing with miscellanea. Each chapter includes carefully selected figures and a variety of diagrams highlighting the main characteristics of a specific lesion to facilitate its diagnosis.Based on the authors’ experience with hundreds of biopsies, surgical specimens and autopsies, the book presents material that has been gathered over the past 40 years, providing an essential tool for pathologists, urologists, andrologists and pediatricians who face diagnostic problems.

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 Role of NIH in Drug Development Innovation and Its Impact on Patient Access written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2020-01-27 with total page 103 pages. Available in PDF, EPUB and Kindle. Book excerpt: To explore the role of the National Institutes of Health (NIH) in innovative drug development and its impact on patient access, the Board on Health Care Services and the Board on Health Sciences Policy of the National Academies jointly hosted a public workshop on July 24â€"25, 2019, in Washington, DC. Workshop speakers and participants discussed the ways in which federal investments in biomedical research are translated into innovative therapies and considered approaches to ensure that the public has affordable access to the resulting new drugs. This publication summarizes the presentations and discussions from the workshop.

Download or read book The Dysautonomia Project written by Msm Kelly Freeman and published by Bardolf. This book was released on 2015-10-05 with total page 224 pages. Available in PDF, EPUB and Kindle. Book excerpt: "The Dysautonomia Project" is a much needed tool for physicians, patients, or caregivers looking to arm themselves with the power of knowledge. It combines current publications from leaders in the field of autonomic disorders with explanations for doctors and patients about the signs and symptoms, which will aid in reducing the six-year lead time to diagnosis.

Download or read book Uremic Toxins written by Severin Ringoir and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 292 pages. Available in PDF, EPUB and Kindle. Book excerpt: The present book contains the Proceedings of a two day Symposium on Uremic Toxins organized at the University of Ghent in Belgium. A series of guest lectures, free communications and posters have been presented. An international audience of 163 scientists from 16 nationalities listened to and discussed extensively a spectrum of topics brought forward by colleagues and researchers who worked for many years in the field of Uremic Toxins. There is a striking contrast between all the new dialysis strategies available in the work to "clean" the uremic patients and the almost non-progression of our knowledge on uremic toxins in the past decade. In this sense the symposium was felt by all participants as a new start for the research in the biochemical field of the definition of uremia. If the present volume would stimulate new work in this field in order to define uremia, or identify the uremic toxins, the purpose of the organizers would be maximally fulfilled.

Download or read book Handbook of Clinical Obstetrics written by E. Albert Reece, MD, PhD, MBA and published by John Wiley & Sons. This book was released on 2008-04-15 with total page 600 pages. Available in PDF, EPUB and Kindle. Book excerpt: The second edition of this quick reference handbook for obstetricians and gynecologists and primary care physicians is designed to complement the parent textbook Clinical Obstetrics: The Fetus & Mother The third edition of Clinical Obstetrics: The Fetus & Mother is unique in that it gives in-depth attention to the two patients – fetus and mother, with special coverage of each patient. Clinical Obstetrics thoroughly reviews the biology, pathology, and clinical management of disorders affecting both the fetus and the mother. Clinical Obstetrics: The Fetus & Mother - Handbook provides the practising physician with succinct, clinically focused information in an easily retrievable format that facilitates diagnosis, evaluation, and treatment. When you need fast answers to specific questions, you can turn with confidence to this streamlined, updated reference.

Download or read book Pediatric Hepatology and Liver Transplantation written by Lorenzo D'Antiga and published by Springer. This book was released on 2019-04-29 with total page 817 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is the first to provide balanced examination of both pediatric liver disease and liver transplantation – two topics that are inherently related, given that most chronic liver disorders eventually require organ replacement. The different forms of liver disease encountered in the pediatric age group are first discussed in a series of disease-specific chapters that have a reader-friendly, uniform structure covering pathophysiology, diagnostic and treatment algorithms, clinical cases, and transition to adult care. Key topics in the field of liver transplantation are then addressed. Examples include indications and contraindications, surgical techniques and complications, immunosuppression, in pediatric liver transplantation, acute and chronic rejection and allograft dysfunction, and CMV and EBV infection in transplant recipients, long-term graft injury and tolerance. A section on pediatric hepatology across the world includes chapters presenting the features and management of pediatric liver disease in South-America, Africa and Asia. A closing section considers what the future holds for pediatric liver disease and its management, including novel genetic testing, cell therapy and gene therapy. Pediatric Hepatology and Liver Transplantation will be of value for a range of practitioners, from residents making their first approach to pediatric liver disease through to specialists working in transplantation centers.

Download or read book Williams Hematology 10th Edition written by Kenneth Kaushansky and published by McGraw Hill Professional. This book was released on 2021-01-14 with total page 2705 pages. Available in PDF, EPUB and Kindle. Book excerpt: The landmark text that has guided generations of hematologists and related practitioners―updated with the latest research findings and improved format and presentation Long revered for its comprehensiveness and extraordinary depth of detail, Williams Hematology provides essential coverage of the origins, pathophysiological mechanisms, and management of benign and malignant disorders of blood and marrow cells and coagulation proteins. The text contains a wealth of basic science and translational pathophysiology for optimal, lifelong learning. Experts in research and clinical hematology, the editors are known worldwide for their contributions to the field. This new edition contains everything that has made Williams Hematology the go-to resource for decades and has been updated with new chapters and critical new research into the molecular mechanisms responsible for hematological disorders and the impact on diagnosis and treatment. And the new format enables you to access each chapter via content modules covering key topics, with summaries, infographics, and cases―all linked to review questions for self-assessment. The full-color presentation integrates images of blood and tissue findings where they are cited in the text. NEW TO THIS EDITION: Updated and revised content reflecting the latest research and developments Convenient format that streamlines the learning process and improves retention Additional chapters added on: Immune Checkpoint Inhibitors Immune Cell Therapy: Chimeric Antigen Receptor T Cell Therapy Immune Cell Therapy Dendritic Cell and Natural Killer Cell Therapy The processes of cell death and survival Application of Big Data and Deep Learning in Hematology Williams Hematology Cases with multiple-choice questions including detailed explanations—perfect preparation for the boards Continuously updated online content with comprehensive drug therapy database and other resources

Download or read book Silva s Diagnostic Renal Pathology written by Xin J. Zhou and published by Cambridge University Press. This book was released on 2017-03-02 with total page 691 pages. Available in PDF, EPUB and Kindle. Book excerpt: An algorithmic approach to interpreting renal pathology, updated in light of recent advances in understanding and new classification schemes.

Download or read book Primer on Cerebrovascular Diseases written by K. Michael Welch and published by Academic Press. This book was released on 1997-04-24 with total page 855 pages. Available in PDF, EPUB and Kindle. Book excerpt: Primer on Cerebrovascular Diseases is a handy reference source for scientists, students, and physicians needing reliable, up-to-date information on basic mechanisms, physiology, pathophysiology, and medical issues related to brain vasculature. The book consists of short, specific chapters written by international experts on cerebral vasculature, and presents the information in a comprehensive and easily accessible manner. The book also contains valuable information on practical applications of basic research. Presents topics in a comprehensive and accessible format Written by international authorities on cerebral vasculature Provides practical applications for researchers

Download or read book Management of Subarachnoid Hemorrhage written by Adel E. Ahmed Ganaw and published by Springer Nature. This book was released on 2021-11-26 with total page 227 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book focuses on subarachnoid hemorrhage (SAH), describing in detail the neurophysiology, anatomy, epidemiology, grading, anesthesia management, coiling and interventional treatment of this dangerous disease. Written by leading international experts, it highlights the state-of-the-art techniques for the diagnosis and treatment (non-surgical and surgical) of SAH and the clinical variations. It also examines the reliability of the new techniques versus the standard clinical methods to predict problems related to SAH and its recent diagnosis and management. The book starts with a brief discussion of the epidemiology of SAH, cerebral circulation, anatomy of brain blood vessels and neurophysiology related to this fatal disease. Then, in the following chapters it covers grading of subarachnoid hemorrhage, anesthesia management of SAH, treatment, subarachnoid hemorrhage coiling and radiological intervention. Lastly, it explores surgical treatment of intracranial aneurysms in more detail, and addresses complications, critical care management and headache in SAH, traumatic SAH and prognosis. Featuring numerous images, tables, schema, illustrations and videos, the book is intended for junior and senior anesthesiologists, neuroscientists, intervention radiologists, intensivists and neurosurgeons.