Download or read book Hereditary Optic Neuropathies A New Perspective written by Chiara La Morgia and published by Frontiers Media SA. This book was released on 2021-11-08 with total page 118 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book The Treasury of Human Inheritance written by and published by . This book was released on 1947 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Born with a Bomb Suddenly Blind from Leber s Hereditary Optic Neuropathy written by Valerie Byrne Rudisill and published by AuthorHouse. This book was released on 2012-12-13 with total page 232 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Mitochondrial Case Studies written by Russell Saneto and published by Academic Press. This book was released on 2015-11-24 with total page 340 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Case Based Neuro Ophthalmology written by Jonathan Micieli and published by . This book was released on 2019-06-18 with total page 536 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Mitochondrial Disorders in Neurology written by Anthony Henry Vernon Schapira and published by Butterworth-Heinemann. This book was released on 1994 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 ...
Download or read book Movement Disorders in Childhood written by Harvey S. Singer and published by Academic Press. This book was released on 2015-10-27 with total page 601 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Principles and Practice of Clinical Electrophysiology of Vision second edition written by John R. Heckenlively and published by MIT Press. This book was released on 2006-04-07 with total page 1033 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Intraocular Inflammation written by Manfred Zierhut and published by Springer. This book was released on 2016-01-12 with total page 1530 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Neuro Ophthalmology written by Matthew J. Thurtell and published by Oxford University Press, USA. This book was released on 2012 with total page 209 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuro-ophthalmology is a field of medicine that touches on every subspecialty in neurology, but has an undeserved reputation as a branch of knowledge that is difficult to learn and practice. Many neurologists and ophthalmologists do not receive sufficient exposure to neuro-ophthalmology during their residencies, and are uncomfortable diagnosing and treating patients with neuro-ophthalmic problems. Authored by neuro-ophthalmologists whose careers span three generations in the field, Neuro-Ophthalmology helps clinicians evaluate and manage patients with neuro-ophthalmic problems. This "curb-side consult" approach is divided into five sections: afferent (visual) disorders; efferent (eye movement) disorders; eyelid disorders; pupil disorders; and combination syndromes. Based on the most current scholarly evidence and filled with practical advice, Neuro-Ophthalmology provides the answers to "what do I do now?"
Download or read book Ocular Pathology written by Myron Yanoff and published by . This book was released on 2002 with total page 792 pages. Available in PDF, EPUB and Kindle. Book excerpt: The new, 5th Edition of the premier ocular pathology resource offers the latest information in the field. Over 2095 illustrations *1800 in full color* from the authors' collections represent one of the finest compilations of rare and unusual ocular conditions available. Comprehensive, yet concise, it explores new topics such as complications of corneal surgery, vascular disorders, secondary cataracts, bone-marrow transplant retinopathy, neural retinal detachment, ocular melanotic tumors, and more. Plus, a companion CD-ROM and text/CD-ROM package are available! Explores new topics such as complications of corneal surgery, vascular disorders, secondary cataracts, bone-marrow transplant retinopathy, neural retinal detachment, and ocular melanotic tumors (including diabetes). Offers expanded coverage of entities such as chromosome 17 deletion syndrome, necrobiotic xanthogranuloma, climatic protoglycan stromal keratopathy, unilateral acute idiopathic maculopathy, acute mutifocal retinitis, idiopathic polypoidal choroidal vasculopathy, North Carolina macular dystrophy, familial internal limiting membrane dystrophy, clumped pigmentary retinal dystrophy (clumped pigmentary retinal degeneration), vasoproliferative retinal tumors, Schwartz's syndrome, familial amyloidotic polyneuropathy, familial atypical mole and melanoma (FAM-M) syndrome, and more! Features specific genetic profiles for many existing entities.
Download or read book Pediatric Neuro Ophthalmology written by Michael C. Brodsky and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 692 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Download or read book Common Neuro Ophthalmic Pitfalls written by Valerie A. Purvin and published by Cambridge University Press. This book was released on 2009-01-22 with total page 234 pages. Available in PDF, EPUB and Kindle. Book excerpt: A case-based teaching tool describing real-life cases of neuro-ophthalmic disorders. Bridges the gap between textbook information and everyday clinical practice.
Download or read book New Perspectives in Glaucoma Pathophysiology Diagnosis and Treatment written by Alessio Martucci and published by Frontiers Media SA. This book was released on 2023-06-29 with total page 141 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book A Clinical Approach to Neuro Ophthalmic Disorders written by Vivek Lal and published by CRC Press. This book was released on 2022-10-28 with total page 958 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuro-ophthalmology is a merged subspecialty of neurology and ophthalmology dealing with complex multisystem diseases presenting with visual manifestations. This book helps the reader in recognizing, approaching, and managing such a patient. It covers the afferent and efferent systems, pupillary disorders, and Radiology of neuro-ophthalmic conditions. It features individual symptomatology with salient points, their management and differential diagnosis. It has case scenarios, key points, and algorithms along with self-assessment MCQ questions. Its simplified, step wise approach will be a useful resource for neurologists, ophthalmologists, physicians, pediatricians, and optometrists. Key Features • Features a simplified and stepwise clinical approach to neuro-ophthalmic disorders. • Includes case studies and clinical pearls along with self-assessment sections. • Covers to the point and crisp analysis of common complaints faced in neuro-ophthalmology. All the royalties of this book are donated to the Poor Patients Cell of PGIMER, Chandigarh.
Download or read book Neuro ophthalmic Disorders written by Preeti Patil Chhablani and published by Springer Nature. This book was released on 2019-10-03 with total page 119 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book discusses in detail the major advances in the field of neuro-ophthalmology. Based on the latest research from across the globe, it highlights recent developments in all areas of neuro-ophthalmology, including optic neuritis and the associated demyelinating diseases – especially the changing paradigms in the diagnosis and management of multiple sclerosis and neuromyelitis optica. It also covers the various types of hereditary optic neuropathies as well as nystagmus and its management. In order to provide comprehensive information in a single volume, it addresses topics of interest in pediatric neuro-ophthalmology, such as pediatric optic neuritis and cortical visual impairment, innovations in the management of ocular motility disorders and other disorders of the optic nerve and central nervous system, including ischemic neuropathies and idiopathic intracranial hypertension.This book provides a one-stop source of information on all key topics of neuro-ophthalmology, enabling trainee fellows and practitioners to keep abreast of the current thoughts in this field.As part of the series “Current Practices in Ophthalmology” this volume is intended for residents and fellows-in-training, as well as generalist and specialist ophthalmologists alike.
