Download or read book Atlas of Inherited Retinal Diseases written by Stephen H. Tsang and published by Springer. This book was released on 2018-12-21 with total page 274 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this Atlas will help geneticists familiarize themselves with the candidate gene approach to test patients’ genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders.

Download or read book Syndromes Rapid Recognition and Perioperative Implications written by Bruno Bissonnette and published by McGraw-Hill Education / Medical. This book was released on 2006-08-10 with total page 988 pages. Available in PDF, EPUB and Kindle. Book excerpt: Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.

Download or read book Not Fade Away written by Rebecca A. Alexander and published by Penguin. This book was released on 2015-09-15 with total page 321 pages. Available in PDF, EPUB and Kindle. Book excerpt: The inspiring and moving memoir of a young woman who is slowly losing her sight and hearing yet continues to live life to its fullest potential. Even a darkening world can be brilliantly lit from within. Born with a rare genetic mutation called Usher syndrome type III, Rebecca Alexander has been simultaneously losing both her sight and hearing since she was a child, and she was told that she would likely be completely blind and deaf by thirty. Then, at eighteen, a fall from a window left her athletic body completely shattered. None of us know what we would do in the face of such devastation. What Rebecca did was rise to every challenge she faced. She was losing her vision and hearing and her body was broken, but she refused to lose her drive, her zest for life, or—maybe most important—her sense of humor. Now, at thirty-five, with only a sliver of sight and significantly deteriorated hearing, she is a psychotherapist with two masters’ degrees from Columbia University and an athlete who teaches spin classes and regularly competes in extreme endurance races. She greets every day as if it were a gift, with boundless energy, innate curiosity, and a strength of spirit that have led her to places we can’t imagine. In Not Fade Away, Rebecca tells her extraordinary story, by turns harrowing, funny, and inspiring. She meditates on what she’s lost—from the sound of a whisper to seeing a sky full of stars, and what she’s found in return—an exquisite sense of intimacy with those she is closest to, a love of silence, a profound gratitude for everything she still has, and a joy in simple pleasures that most of us forget to notice. Not Fade Away is both a memoir of the senses and a unique look at the obstacles we all face—physical, psychological, and philosophical—exploring the extraordinary powers of memory, love, and perseverance. It is a gripping story, an offering of hope and motivation, and an exquisite reminder to live each day to its fullest.

Download or read book Pharmacoepigenetics written by and published by Academic Press. This book was released on 2019-06-04 with total page 983 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pharmacoepigenetics, Volume Eleven provides a comprehensive volume on the role of epigenetics and epigenomics in drug discovery and development, providing a detailed, but accessible, view of the field, from basic principles, to applications in disease therapeutics. Leading international researchers from across academia, clinical settings and the pharmaceutical industry discuss the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, and treatment, current epigenetic drugs, and the application of epigenetic procedures in drug development. Throughout the book, chapter authors offer a balanced and objective discussion of the future of pharmacoepigenetics and its crucial contribution to the growth of precision and personalized medicine. Fully examines the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, treatment, current epigenetic drugs and the application of epigenetic procedures in drug development Features chapter contributions from leading international researchers in academia, clinical settings and the pharmaceutical industry Instructs researchers, students and clinicians on how to better interpret and employ pharmacoepigenetics in drug development, efficiency and safety Provides a balanced and objective discussion of the future of pharmacoepigenetics and its crucial role in precision medicine

Download or read book Usher s Syndrome written by Earlene Duncan and published by Charles C. Thomas Publisher. This book was released on 1988 with total page 116 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Hereditary Hearing Loss and Its Syndromes written by Helga V. Toriello and published by Oxford University Press. This book was released on 2013-06-20 with total page 749 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular diagnosis and on genetic susceptibility to ototoxic factors have been added. As in previous editions, the syndromes are grouped by system (visual, metabolic, cardiologic, neurologic, musculoskeletal, endocrine, etc.), with each chapter written by a recognized expert in the field. Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and for researchers in the hearing sciences.

Download or read book Healing Your Eyes with Chinese Medicine written by Andy Rosenfarb and published by North Atlantic Books. This book was released on 2007-06-19 with total page 201 pages. Available in PDF, EPUB and Kindle. Book excerpt: Optimal eye health is just around the corner with this guide to treating common eye disorders with acupuncture, herbs, and other tenets of Chinese medicine For the past ten years, Andy Rosenfarb has successfully used acupuncture and Chinese medicine to treat a wide range of eye conditions. His treatments include moxibustion techniques, tuina (massage), microcurrent stimulation, Chinese herbs, and qigong exercises, along with “essential acupuncture” where essential oils are placed on acupuncture points. The culmination of his work—which includes a recent pioneering study involving metabolic testing—is this handbook for healing the kinds of conditions too often considered almost impossibly challenging or irreversible. The first half of Healing Your Eyes with Chinese Medicine explains Traditional Chinese Medicine and its perspective on the eyes, which is based on the idea that the eyes and the brain work in tandem, not isolation. The second half focuses on proven methods derived from Rosenfarb’s practice, including nutritional, supplemental, and lifestyle adjustments. Individual chapters cover eye disorders such as glaucoma, macular degeneration, retinitis pigmentosa, and many more. This book is intended as a practical manual to help readers understand their eyes and vision more comprehensively, and to learn new, affordable ways for retaining the precious gift of sight.

Download or read book Genetic Hearing Loss written by Patrick J. Willems and published by CRC Press. This book was released on 2003-10-17 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: Heredity, either alone or in combination with environmental factors, is the most prominent underlying cause of hearing impairment. Thanks in large part to positional cloning techniques, scientists have identified nearly 100 gene loci implicated in hearing loss since 1995-an extraordinarily rapid rate of gene identification. Genetic Hearing Loss branches into syndromic and nonsyndromic categorical directions in its coverage of the genetics behind hearing loss. Authored by 60 internationally recognized researchers, the book describes the normal development of the ear, updates the classification and epidemiology of hearing loss, and surveys the usage of audiometric tests and diagnostic medical examinations.

Download or read book Handbook of Pediatric Retinal OCT and the Eye Brain Connection written by Cynthia A. Toth and published by Elsevier Health Sciences. This book was released on 2019-05-04 with total page 371 pages. Available in PDF, EPUB and Kindle. Book excerpt: Optical Coherence Tomography (OCT) plays a vital role in pediatric retina diagnosis, often revealing unrecognized retinal disorders and connections to brain injury, disease, and delayed neurodevelopment. Handbook of Pediatric Retinal OCT and the Eye-Brain Connection provides authoritative, up-to-date guidance in this promising area, showing how to optimize imaging in young children and infants, how to accurately interpret these images, and how to identify links between these images and brain and developmental disorders. Illustrates optimal methods of OCT imaging of children and infants, how to avoid pitfalls, and how to recognize and avoid artifacts Explains how the OCT image may relate to brain disease and delayed neurodevelopment Features more than 200 high-quality images and scans that depict the full range of disease in infants and young children Provides guidance in identifying retinal layers and important abnormalities. Covers the structural features of the retina and optic nerve head in developmental, acquired, or inherited conditions that affect the eye and visual pathways Offers practical ways to set up imaging programs in the clinic, operating room, or neonatal nursery

Download or read book Retinal Dystrophy Gene Atlas written by Sarwar Zahid and published by Springer. This book was released on 2018-06-25 with total page 279 pages. Available in PDF, EPUB and Kindle. Book excerpt: Classically, photo atlases of retinal dystrophies have been divided into sections that describe and depict a particular retinal finding or disease, after which a differential diagnosis of potential diseases or mutated genes is provided. However, given the rapid improvement in molecular diagnostics, and the exponential increase in our understanding of the phenotypes caused by each mutated gene, the paradigm has changed. Physicians are now more interested in the variable expressivity associated with mutations in each individual gene. Therefore, Retinal Dystrophy Gene Atlas catalogs the different phenotypes that have been reported with each mutated gene. Each section describes a gene and its known clinical phenotypes and features of disease, along with retinal photos of affected patients. Written by prominent retinal dystrophy specialists from the largest dystrophy centers worldwide, Retinal Dystrophy Gene Atlas contains more than 80 chapters, each of which describes the clinical and photographic manifestations of a specific gene. The chapters include stunning clinical color photographs of the retina, autofluorescence imaging, electrophysiologic findings, and cross-sectional imaging. Retinal Dystrophy Gene Atlas serves as a resource to aid genetic diagnosis in patients with retinal dystrophies.

Download or read book Medical Genetics in the Clinical Practice of ORL written by Raye L. Alford and published by Karger Medical and Scientific Publishers. This book was released on 2011 with total page 166 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diagnosis and management of adult and pediatric genetic disorders Experts in otorhinolaryngology as well as medical genetics have contributed their reviews to this comprehensive compilation. Introductory chapters deal with basic genetics followed by chapters devoted to specific disorders. The gamut of otorhinolaryngological diseases from both adult and pediatric practice is covered. Included are common disorders such as hearing loss, cleft lip and palate, and thyroid cancers as well as further chapters on rare disorders such as Usher syndrome, neurofibromatosis type 2 and paraganglioma. Also, emerging fields of genetic investigation including otitis media, chronic rhinosinusitis and gene therapy are discussed. The contributions focus on diagnosis and management, as well as practical issues like how to order genetic testing or refer to a medical geneticist or genetic counselor. This publication will serve as an educational and reference text for both adult and pediatric otorhinolaryngologists, as well as medical geneticists and genetic counselors. It will provide readers with an understanding of the current state of genetic disorders seen in ORL practice, allow for accurate diagnosis, and improve patient management.

Download or read book Orchid of the Bayou written by Cathryn Carroll and published by Gallaudet University Press. This book was released on 2001 with total page 274 pages. Available in PDF, EPUB and Kindle. Book excerpt: In graduating from Gallaudet University, finding a job in Washington, D.C., and starting a family with her college sweetheart, Kitty Fischer tacitly abandoned the Louisiana Cajun culture that had exposed her to little more than prejudice and misery as a child. Upon discovering that she suffered from Usher syndrome (a genetic condition that causes both deafness and blindness), however, Fischer began an unlikely journey toward reclaiming her heritage. She and Cathryn Carroll tell the story of her heroic struggle and cultural odyssey in Orchid of the Bayou: A Deaf Woman Faces Blindness. "By this time Mama knew I was 'not right, '" Fischer says of her early childhood. "She knew the real words for 'not right, ' too, though she never said those words. I was deaf and dumb." Initially Fischer's parents turned to folk healers to try and "cure" their daughter's deafness, but an aunt's fortunate discovery of the Louisiana School for the Deaf would rescue Fischer from misunderstanding and introduce her to sign language and Deaf culture. She weathered the school''s experiments with oralism and soon rose to the top of her class, ultimately leaving Louisiana for the academic promise of Gallaudet. While in college, Fischer met and married her future husband, Lance, a Jewish Deaf man from Brooklyn, New York, and each landed jobs close to their alma mater. After the birth of their first child, however, Fischer could no longer ignore her increasing tunnel vision. Doctors quickly confirmed that Fischer had Usher syndrome. While Fischer struggled to come to terms with her condition, the high incidence of Usher syndrome among Cajun people led her to re-examine her cultural roots. "Could I still be me, Catherine Hoffpauir Fischer, had I not been born of a mix that codes for Usher syndrome?" she asks. "To some extent, the history of my people explains the constitution of my genes and the way my life has unfolded." Today Fischer prospers, enjoying her time with family and friends and celebrating the Deaf, Cajun, Blind, and Jewish cultures that populate her life. Her lively story will resonate with anyone who recognizes the arduous journey toward claiming an identity.

Download or read book Manual of Retinal Diseases written by Carlos A. Medina and published by Springer. This book was released on 2016-04-26 with total page 632 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is a comprehensive source of authoritative information on the clinical features,diagnosis, differential diagnosis, and management of medical and surgical retinal diseases. The Manual has 122 chapters, organized in 18 sections covering medical and surgical aspects of retinal diseases such as trauma, AMD, Uveitis, infections, endophthalmitis, pediatric diseases, dystrophies, and tumors. Easy-to-read chapters convey the fundamental concepts with the aid of clinical photographs, imaging studies (including fluorescein and indocyanine angiograms, ultrasonograms, CT scans, and MRI scans) and tables. The manual is of value to a wide range of practitioners and trainees, including students,residents, fellows and ophthalmologists who treat retinal diseases.

Download or read book Cochlear Implants in Young Deaf Children written by Elmer Owens and published by Austin, Tex. : Pro-ed. This book was released on 1991-01-01 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Genetics of Deafness written by B. Vona and published by Karger Medical and Scientific Publishers. This book was released on 2016-04-21 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics of Deafness offers a journey through areas crucial for understanding the causes and effects of hearing loss. It covers such topics as the latest approaches in diagnostics and deafness research and the current status and future promise of gene therapy for hearing restoration. The book begins by bringing attention to how hearing loss affects the individual and society. Methods of hearing loss detection and management throughout the lifespan are highlighted as is a particularly new development in newborn hearing screening. The challenges of hearing loss, an extremely heterogeneous impairment, are addressed. Additional topics include current research interests, ranging from novel gene identification to their functional validation in the mouse and zebrafish. The book ends with a chapter on the state of the art of gene therapy—an area that is certain to gain increasing attention as molecular mechanisms of deafness are better understood. Genetics of Deafness, written by leading authors in the field, is a must read for clinicians, researchers, and students. It provides much needed insight into the diagnosis and research of hereditary hearing loss.

Download or read book Genetic Diseases of the Eye written by Elias I. Traboulsi and published by OUP USA. This book was released on 2012-01-12 with total page 940 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book A Compendium of Inherited Disorders and the Eye written by Elias I. Traboulsi M.D. and published by Oxford University Press. This book was released on 2005-12-01 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.