During the past two decades, our understanding of the molecular genetics of inherited eye diseases, their classification, and management has undergone a huge expansion as the field of human genetics has benefited from technological advances and increased interest by physicians and scientists in all fields. As a result, the amount of clinical and basic-science information on inherited systemic and eye diseases has become so large that general ophthalmologists, ophthalmic subspecialists, and physicians in other fields have found it difficult to keep up. This volume will act as a guide because it catalogues all the latest information about genetic diseases that involve the eye and presents it in a practical and accessible format. After an introductory chapter that reviews basic clinical and molecular-genetic principles, individual diseases and groups of diseases are listed alphabetically in order to make it as easy as possible to search for an entry. The material in each entry is a synthesis of numerous articles and reviews on the topic, accompanied by at least one high-quality illustration, at least one webpage of a patient support group or other organization related to the disease, and references that provide the original description of the disease, an excellent review, or useful illustrations. There is also a companion website containing electronic copies of all the illustrations to make it easy to use them in lectures. Health-care professionals who need immediate access to clinical and basic-science information on inherited systemic and eye diseases will find this volume indispensable.

This book takes a clinical approach to the patient with a genetic disease that affects the eye. The chapters on particular types of diseases follow the same organizational format, covering history, pathogenesis and etiology, epidemiology, classification, clinical manifestations and diagnosis, and treatment. The recent progress achieved in the molecular genetics of eye disease is fully reflected throughout the book. It is written by leading experts in the field and provides clinical, molecular genetic and management information on common and rare diseases. The chapters are heavily illustrated and provide a good Atlas for the practicing ophthalmologist or geneticist.

The Eye: Basic Sciences in Practice provides highly accessible, one-stop coverage of all the essential basic science required by today's ophthalmologists and optometrists in training. It is also core reading for those embarking on a career in visual and ophthalmic science, as well as an invaluable, current refresher for the range of practitioners working in this area. Building on previous success, this fifth edition has been fully revised in line with current curricula, key research developments and clinical best practice. It succinctly incorporates critical developments in fast-moving fields related to the eye and vision, including genetics, pharmacology, microbiology, immunology, pathology, neurophysiology, neuroanatomy and imaging. Topical coverage includes: - Major advances in the search for new genes underpinning disease in ophthalmology - The emergence of new infections such as Ebola, Zika and COVID-19 - The importance of the gastrointestinal tract as an immune organ and its functional dependence on the microbiome - Key aspects of melanopsin, melatonin and new ways of light sensing Also, (print purchasers) benefit from access to the complete, fully searchable electronic text, with integrated video and other bonus materials to further explain and expand on key concepts. This combines to make The Eye a more flexible, comprehensive and engaging learning package than ever before. - The only all-embracing textbook of the basic sciences suitable for trainee ophthalmologists, optometrists and vision scientists. - Utilising an attractive page design with over 300 colour drawings and 200 photographs this is an attractive and accessible text to learn from. - The text presents in a readable form an account of all the basic sciences necessary for an understanding of the eye – anatomy, embryology, genetics, biochemistry, physiology, pharmacology, immunology, microbiology and infection and pathology.

The A-Z Reference Book of Syndromes and Inherited Disorders provides a practical reference for carers and those with a syndrome or inherited disorder. It describes the disorders and problems of both children and adults, considers the day-to-day management of conditions and is written in non-technical language for a wider audience whilst giving enough detail for the medical, nursing and midwifery professions. The text is well indexed and has an extensive glossary. Whilst new methods of diagnosis, investigation and treatment will, of course. occur over the next few years, the basics described in this book will still apply. Social workers, nursery nurses and educationalists will find this reference source invaluable as a basis for assessing needs and potential in their students and clients.

A trusted textbook for undergraduate students for more than 100 years, which also caters to the basic needs of postgraduate students and practitioners. The book was first published in 1907, and on account of its clear and friendly presentation style as well as its authoritative coverage of ocular disorders, it quickly became a fundamental text for students. Since then the book has maintained its popularity with students through regular revisions and updates. The 19th edition of this book was especially adapted to the context of Indian subcontinent with a special mention about the infections that occur predominantly in this region. The 22nd edition continues this trend by presenting unparalleled guidance on nearly every ophthalmic condition and procedure, including the latest advances in the field, making the book more comprehensive and contemporary. • Inclusion of Important Points to Remember at the end of the book • Addition of new clinical photographs, flowcharts, and tables to facilitate quick learning • Extensively revised and updated edition • Reader-friendly version with information highlighted in points, flow charts and tables • Information provided to help prepare for PG entrance and other competitive examinations

As the first comprehensive reference for the eye, its support structures, diseases, and treatments, Encyclopedia of the Eye is an important resource for all visual scientists, ophthalmologists, and optometrists, as well as researchers in immunology, infectious disease, cell biology, neurobiology and related disciplines. This four-volume reference is unique in its coverage of information on all tissues important for vision, including the retina, cornea and lens. It also covers the physiological and pathophysiologic processes that affect all eye tissues. This Encyclopedia is invaluable for graduate students and postdoctoral fellows who are seeking an introduction to an area of eye research. Each chapter explains the basic concepts and provides references to relevant chapters within the Encyclopedia and more detailed articles across the wider research literature. The Encyclopedia is also particularly useful for visual scientists and practitioners who are researching a new area, seeking deeper understanding of important research articles in fields adjacent to their own, or reviewing a grant outside their immediate area of expertise. Written by experts at a level that permits students to grasp key elements of a specific subject Provides an entryway into the major features of current eye research No other source puts this much information, so well-indexed and with so many helpful full color figures and graphics, in the hands of the ophthalmic scientist

Overcome the toughest clinical challenges in nephrology with Brenner & Rector’s The Kidney -- the most well-known nephrology resource in the world. A diverse team of more than 200 international contributors brings you the latest knowledge and best practices on every front in nephrology worldwide. From basic science and pathophysiology to clinical best practices, Brenner & Rector’s The Kidney is your go-to resource for any stage of your career. Review of the basic science that underpins clinical nephrology, comprehensive selection of the most important bibliographical sources in nephrology, and Board Review-style questions help you prepare for certification or recertification. Coverage of kidney health and disease from pre-conception through fetal and infant health, childhood, adulthood, and into old age. Expanded sections and chapter on global perspective and ethical considerations. Uniform terminology and nomenclature in line with emerging consensus in world kidney community. More than 700 full-color high-quality photographs as well as carefully chosen figures, algorithms, and tables to illustrate essential concepts, nuances of clinical presentation and technique, and decision making provide a visual grasp and better understanding of critical information. Internationally diverse, trusted guidance and perspectives from a team of well-respected global contributors . An editorial team headed by Dr. Skorecki and handpicked by Dr. Brenner ensures the ongoing adherence to previous standards of excellence. All chapters have been extensively updated or entirely rewritten by authorities in their respective fields. The latest clinical information including recent clinical trials, genetic causes of kidney disease, cardiovascular and renal risk prediction in chronic kidney disease, new paradigms in fluid and electrolyte management, and pediatric kidney disease, keep you current with the rapid development of care and research worldwide.

Easy to read, yet comprehensive, this is the perfect introduction into the molecular basis of disease and the novel treatment options that have become available. The authors, Jens Kurreck and Cy Stein, have both long-standing teaching experience on the subject, one from a biologist's angle, the other with a medical background. Together, they have produced a modern textbook for courses in Molecular Medicine that incorporates modules from immunology to signaling, from virology to gene therapy, and the latest development in personalized medicine.

**Selected for Doody's Core Titles® 2024 in Veterinary Medicine** Use the veterinarian's #1 reference on general pathology and the pathology of organ systems! Pathologic Basis of Veterinary Disease, 7th Edition helps you understand and diagnose diseases of domestic animals by using the latest scientific and medical research. Focusing on dogs, cats horses, cattle, sheep, goats, and pigs, this reference describes and vividly illustrates and explores the pathogeneses of animal diseases, how cells and tissues respond to injury, and the morphology (lesions) of this injury. New to this edition is basic coverage of tumor, inflammatory, and microbial cytology. Edited by veterinary pathologist James F. Zachary and a team of expert veterinary pathologists, this book includes access to an enhanced eBook with every new print purchase, featuring a fully searchable version of the entire text, an image collection, and much more – and available on a variety of devices. - Clear, up-to-date illustrations and explanations of the macroscopic (gross) and microscopic lesions resulting from diseases occurring in domestic animals - Complete coverage of both general pathology and the pathology of organ systems that includes the latest research, practice, and diagnostic information on disease mechanisms, pathogenesis, and lesions. - Clear explanations of disease mechanisms that describe cell, tissue, and organ system responses to injury and infection. - Easy-to-follow organization for each systemic disease chapter including a brief review of the study of diseases that occur in specific tissues, organs, and organ systems, with basic principles related to anatomy, structure, and function, followed by congenital and functional abnormalities and discussions of infectious disease responses, helping students apply principles to veterinary practice. - More than 2,100 full-color illustrations featuring color photographs, schematics, flow charts, and diagrammatic representations of disease processes as well as summary tables and boxes, making it easier to understand difficult concepts. - Content on cellular and organ system pathology updated throughout the book, with expanded coverage of genetics and disease. - Key Readings Index in each chapter with page numbers for key topics. - Essential Concept boxes in each General Pathology chapter break down complicated topics that are critical to understanding lesions and pathogeneses. - More than 20 recognized experts deliver the most relevant information for the practitioner, student, or individual preparing for the American College of Veterinary Pathologists' board examination. - An enhanced eBook is included with new print purchase, featuring the complete, fully searchable text plus an image collection; the text, tables, and boxes linked to the website that are cited throughout the book; ten new appendices that focus on veterinary diagnostic pathology, postmortem examination, interpretation of lesions, and more; plus an established appendix of photographic techniques used in veterinary diagnostic pathology.

A concise, easy-to-understand introduction to the fundamentals, Pathophysiology for the Health Professions, 4th Edition helps you learn to identify disease processes and disorders. Authors Barbara Gould and Ruthanna Dyer continue the tradition of a text known for its readability and vivid, full-color illustrations, updated with the latest research and clinical advances. Unique Challenge, Think About, and Emergency Treatment features help in applying the material to real-life situations. No matter which area in the healthcare field you may enter, this book provides essential preparation for conditions encountered in clinical practice. Concise and readable approach includes the information students need without overwhelming them, even if they have a limited scientific background. Unique Challenge feature asks "What can go wrong with this structure or system?" as a way to help students facilitate progress by using previously learned knowledge. Unique Think About boxes help with self-evaluation, test preparation, and review. Unique Emergency Treatment boxes list basic emergency measures; these can be modified to fit specific professions, established protocols, or practice settings. Research boxes discuss new developments, problem areas of pathophysiology, and complications associated with research. Warning Signs boxes summarize conditions that may develop in patients. Diagnostic tests and treatments are included for each of the major disorders. Case studies in each chapter provide a basis for discussion or can be used as an assignment. Study questions offer a self-assessment on the material in each chapter. Ready References in the appendix provide a quick lookup for anatomic terms, conversion tables, abbreviations and acronyms, diagnostic studies and tests, and more. A companion Evolve website includes web links, learning activities, content updates, and more. New content on the causes and trends related to disease, new drugs, technology, and treatment. Coverage of obesity and its complications, including an in-depth discussion of metabolic syndrome. Multiple disorder syndromes in the aged client. DNA, genetics and the Human Genome Project with current research on protein pathways in health (proteomics) and the implications for drug treatment and disease causation. Coverage of autism. Updated content on the H1N1 virus and communicable diseases; HIV, cancer causation, and immunology; and substance abuse to reflect common practices in the use of illicit (street) drugs as well as abuse of prescription medications. Case studies revised to emphasize chronic diseases, prevention, and acute care, and to apply to a wider range of health professions. Appendices reorganized for improved reference and lookup.