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Topic Editor Valerio Carelli received financial support from Stealth BioTherapeutics. The other Topic Editors declare no competing interests with regard to the Research Topic subject.
Blindness A world that both horrifies and fascinates. Imagine you find your eyes aren't working quite right one day. You think you need glasses. Instead, over the next few months, while you lose your vision daily, you discover it is caused by a defect in your mitochondrial DNA. It is hereditary. There is no cure and no way to stop your vision loss. There is no way to predict how much sight you will lose. You could be anywhere from visually impaired to total darkness. You are the first one in your family to be effected so you had no idea this could happen. Typically you are a male at your prime -late teens to early 20's. But, you can be any age or any sex. In this collaboration you will meet a skydiver, lawyer, athlete, sailor, world golf champion, musicians, one who defied death 3 times, people desperate to try anything for a cure, and potentially the first and only person in the world ever cured. There is humor, despair, joy, and the spirit of human nature conquering extreme adversity. Even you may have been born with this genetic bomb - so Welcome to our World.
Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis offers the science behind mitochondrial disease with a case studies approach. Since mitochondrial diseases are diverse and influenced by genetic, environmental, and social-economic factors, this publication will help students, physicians, scientists, health care students, and families recognize and accurately diagnose mitochondrial disease and learn about potential treatments. - Reviews case studies as a helpful teaching tool to increase awareness and improve diagnosis - Provides information on underlying mechanisms of mitochondrial disease - Includes basic mitochondrial dysfunction research through patient case studies to best illustrate the entire disease process
Case-Based Neuro-Ophthalmology is designed for ophthalmology and neurology residents learning neuro-ophthalmology. Multiple choice questions are a common way of assessing knowledge on standardized examinations, but are also a useful way to learn. This book aims to familiarize the reader with common neuro-ophthalmology case presentations and poses questions that must be considered before arriving at a coherent impression and plan. Common test questions are also included to help with preparation for standardized examinations.Key Features:- Neuroimaging review tailored to ophthalmology residents for high-yield topics and images relevant to neuro-ophthalmology- Optical coherence tomography chapter dedicated to high-yield topics for neurology and ophthalmology residents- 23 of the most common neuro-ophthalmology cases ranging from optic neuritis, ischemic optic neuropathy and 6th nerve palsy with a complete set of multiple choice questions, answers and explanations. - Clinical pearls are highlighted in Clinical Pearl boxes for the most high yield information
This well-structured and lavishly illustrated book is a comprehensive reference on intraocular inflammation that encompasses all anatomic forms, settings and etiologies. Individual sections are devoted to uveitis associated with systemic disorders, uveitis syndromes restricted to the eye, bacterial uveitis, viral uveitis, fungal uveitis, parasitic uveitis, uveitis caused by other microbes, traumatic uveitis, and masquerade syndromes. Chapters on the different forms of uveitis are in a homogeneous reader-friendly format, with identification of core messages, explanation of etiology and pathogenesis, up-to-date information on diagnostics and differential diagnosis and guidance on the most appropriate forms of treatment and prognosis. Helpful flow charts are included to assist in identification of potential underlying disorders and the reader will also have online access to one hundred informative case reports demonstrating the different courses of intraocular inflammation. The authors are world experts keen to share their vast experience with the reader. Intraocular Inflammation will be a valuable resource for all physicians who deal with patients with inflammatory eye disease.
Mitochondrial Disorders in Neurology provides an overview of mitochondrial diseases. This book discusses the effects of mitochondrial dysfunction based on the relevant biochemistry and molecular genetics. The abnormal muscle and mitochondrial morphology in a variety of clinical presentations from isolated ophthalmoplegia to severe encephalopathy are also elaborated. This text likewise deliberates Leber's hereditary optic neuropathy, neurodegenerative disorders, and respiratory chain defects. Other topics covered include mitochondrial DNA and the genetics of mitochondrial disease; cytochrome ox ...
Movement Disorders in Childhood, Second Edition, provides the most up-to-date information on the diseases and disorders that affect motor control, an important area of specialization within child neurology. Over the past several decades, advances in genetics, neuroimaging, neurophysiology, and other areas of neuroscience have provided new understanding of the underlying etiologies and mechanisms of these conditions as well as new opportunities for more accurate diagnosis and effective treatment. This new edition builds upon the success of the first edition, with comprehensive scientific and clinical updates of all chapters. In addition, there are new chapters on hereditary spastic paraplegia, quantitative motor assessments, autoimmune disorders, and movement disorders in the developmental neuropsychiatric disorders ADHD, OCD, and autism. Additional materials are provided on the latest in drug treatments, computer based strategies for genetic diagnosis, and helpful videos for phenomenology. - Provides the only current reference specifically focused on childhood movement disorders - Investigates the underlying etiologies and mechanisms of these disorders - Completely revised and updated with new materials and a more disease-oriented approach - New coverage of genetics and movement disorders, immunology and movement disorders, and an introduction to the latest quantitative analysis - New videos of instructive and unusual childhood movement disorders - 2016 BMA Medical Book Awards Highly Commended in Neurology
The long-awaited second edition of an authoritative reference on electrophysiologic vision testing, including detailed information on techniques and problems, basic physiology and anatomy, theoretical concepts, and clinical findings; with extensive new material. This authoritative text is the only comprehensive reference available on electrophysiologic vision testing, offering both practical information on techniques and problems as well as basic physiology and anatomy, theoretical concepts, and clinical correlations. The second edition, of the widely used text, offers extensive new material and updated information: 65 of the 84 chapters are completely new, with the changes reflecting recent advances in the field. The book will continue to be an essential resource for practitioners and scholars from a range of disciplines within vision science. The contributions not only cover new information—important material that is likely to become more important in the next decade—but also offer a long-range perspective on the field and its remarkable development in the last century. After discussing the history and background of clinical electrophysiology, the book introduces the anatomy of the retina and principles of cell biology in the visual pathways at the molecular, physiological, and biochemical levels. It relates these new findings to the techniques and interpretations of clinical tests, including the electro-oculogram (EOG), electroretinogram (ERG), and visual evoked potentials (VEP), which are discussed in detail, as are equipment, data acquisition and analysis, principles and protocols for clinical testing, diseases and dysfunction, and animal testing. Notable additions for this edition include chapters on the origin of electroretinogram waveforms, multifocal techniques, testing in standard laboratory animals, recent advances in analysis of abnormalities in disease, and the applications of these techniques to the study of genetic abnormalities.
Pediatric Neuroophthalmology details the diagnostic criteria, current concepts of pathogenesis, neuroradiological correlates, and clinical management of a large group of neuroophthalmic disorders that present in childhood. Surprisingly distinct from neuroophthalmic disorders afflicting adults, this set of diseases falls between the cracks of most ophthalmology training, and thus, warrants a practical, clinical guide for the practitioner in ophthalmology - the neuroophthalmologist, pediatric ophthalmologist, general ophthalmologist - as well as neurologists and for residents. The authors, leading pediatric ophthalmologists, have taken this difficult subject matter and developed an accessible, user-friendly manual with a detailed approach to the recognition, differential diagnosis, and management of pediatric neuroophthalmologic disorders.