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Clinical Ophthalmic Genetics and Genomics
Practical Genomics for Clinical Ophthalmology provides in-depth coverage of the clinical applications of genomics in eye disease, with a key emphasis on case-study based instruction in patient care and genetic counseling aspects, genetic and genomic diagnostics, and treatment pathways. The book presents the latest information on genetic and genomic test results, best practices for delivery of results to patients and families, and ongoing research into therapeutics, with specific chapters covering non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, developmental eye abnormalities, ny...
Inherited Chorioretinal Dystrophies
This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehensive electrophysiology. The data for each individual disorder have been summarised in an accessible, reader-friendly format for easy reference. The illustrations include colour fundus photographs, fluorescein angiograms, OCT scans, electrophysiological studies and pedigrees. The editors and authors are well-known experts in the field and have drawn upon their extensive experience to produce this unique atlas.
Pediatric Ophthalmology and Strabismus,Expert Consult - Online and Print,4
Pediatric Ophthalmology and Strabismus is your one-stop source for comprehensive coverage of all the pediatric ophthalmic conditions you are likely to encounter in practice. Extensively updated with expert contributions from leaders in the field and now featuring online instructional videos, this ophthalmology reference delivers all the state-of-the-art guidance you need to effectively diagnose and manage even the most challenging eye diseases and disorders seen in children. Take a holistic approach to patient management that considers the family and ensures optimal doctor-patient relationships.Get a balanced view of etiology, diagnosis, and management, and access unique guidance on the prac...
The Janus Complex
November 1966, a dark winter's night in Glasgow, and someone is in trouble. Jamie Raeburn, hearing a call for help, goes to investigate and what follows changes Jamie's life forever. He discovers a man, an American Naval Officer, being viciously assaulted by four other men ... but Jamie is alone and the odds are stacked against him and the American. Jamie, never one to dwell on odds, intervenes and in the ensuing fight ends up being stabbed and left for dead. Rushed to hospital Jamie undergoes emergency surgery and spends three days in Intensive Care and it's there he meets Kate Maxwell, a beautiful English nurse, and falls in love. But Kate Maxwell is married and their affair ends some mont...
Genomics and Clinical Medicine
An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication,and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.
The Black Eagle
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Genomic Medicine
The first edition of Genomics and Clinical Medicine provided an overview of genomics-based advances in disease susceptibility, diagnosis, and prediction of treatment outcomes in various areas of medicine. Since its publication, the science of genomics has made tremendous progress, and exciting new developments in biotechnology and bioinformatics have created possibilities that were inconceivable only a few years ago. This completely revised second edition of Genomic Medicine reflects the rapidly changing face of applied and translational genomics in the medical and health context and provides a comprehensive coverage of principles of genetics and genomics relevant to the practice of medicine.
Genetics in Ophthalmology
The objective of this publication is to enhance mutual understanding and communication between ophthalmologists, molecular geneticists, genetic counselors and biomedical researchers. In the introductory chapter, current genetic paradigms and experimental genetic approaches relevant to the nature of hereditary disorders are discussed. The following contribution on the epidemiology of hereditary ocular disorders provides an excellent reference to geneticists as well as clinicians. Myopia is presented as an example of a complex clinical phenotype where genes and environment interact. Further molecular ophthalmogenetic topics, such as corneal dystrophies, cataract, glaucoma, opticus neuropathy, non-syndromic and syndromic pigmentary retinopathies, defects of vitamin A metabolism and macular dystrophies including age-related macular degeneration, are investigated in depth. The volume concludes with a survey of color vision deficiencies, a discussion of animal models and gene therapy, and a useful description of technical devices supporting patients who are losing sight.
Congenital Cataract
This book aims to assist ophthalmologists in providing the best possible care for children with congenital cataracts. The entire patient pathway is covered, from preoperative assessment through application of the various surgical techniques to postoperative care and management of complications. Among the topics discussed are new developments in molecular genetics relevant to patient evaluation, intraocular lens power formulas, and the findings of the Infant Aphakia Treatment Study. The surgical section describes anterior capsulotomy, lensectomy, selection of intraocular lens (IOL) power, IOL implantation in the capsular bag, posterior capsulotomy techniques, the use of secondary IOLs and iris-fixated IOLs in children, and surgical management in developing countries. Visual outcomes after surgery are also fully addressed, with chapters on the occurrence of strabismus, nystagmus, and poor stereopsis.
Epstein's Inborn Errors of Development
Epstein's Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. It is a top-to-bottom revision of the landmark text that both revolutionized and accelerated the field of human genetics.
