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 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 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 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 Walk in My Shoes written by R. Rice and published by . This book was released on 2018-04-30 with total page 296 pages. Available in PDF, EPUB and Kindle. Book excerpt: Walk in My Shoes is a book unlike any other. It is a unique collection of 27 powerful stories by individuals who have witnessed or experiencedthe tragedy of losing not one, but two senses:hearing and sight. The loss is caused by a raredisease called Usher Syndrome. These storieswill give you a glimpse into the world of thedeafblind and their families and friends.The collection of stories will give you a chance to walk in the shoes of those with Usher Syndrome with different perspectives, experiences, and situations of those constant challenges that they face.Instead of giving up, these people discover and embrace their inner strength to overcome great obstacles and adversity in their quest for acceptance, equality, and respect by society. Eventhe simplest everyday tasks that people take forgranted, such as public transportation, cooking, oreven walking around, can be a Herculean challenge for those with Usher Syndrome. Yet, they keep on fighting and adapting to those constant challenges.These people, along with their families and friends,are unseen and unheard heroes. Even though theymay not see or hear, they have so much to teach us about the human spirit, overcoming harsh obstacles and seeking equality in a society that does not understand them.
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 2011-08-30 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 Usher Syndromes New Insights for the Healthcare Professional 2011 Edition written by and published by ScholarlyEditions. This book was released on 2012-01-09 with total page 31 pages. Available in PDF, EPUB and Kindle. Book excerpt: Usher Syndromes: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Usher Syndromes in a compact format. The editors have built Usher Syndromes: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Usher Syndromes in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Usher Syndromes: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Download or read book The Madness of Usher s written by Dorothy H. Stiefel and published by Business of Living Publication. This book was released on 1991 with total page 78 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Usher Syndrome written by Satpal Ahuja and published by . This book was released on 2011 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is just what we needed to gather the knowledge accumulated on Usher syndrome throughout the past fifteen years. The epidemiology and pathophysiology of the disease are discussed in several chapters. The great importance of an early diagnosis of the disease in affected children in order to provide them with appropriate education and therapeutic choices is suitably emphasised. Present therapeutic options as well as the ones under development, based on either physical, cellular, or genetic approaches are also presented. In this book, physicians, ophthalmologists, ENT specialists (Ear, Nose, and Throat specialists) will thus be able to extract information essential to their day-to-day medical practice, whereas scientists will find helpful notions to identify the fundamental issues that remain to be solved.
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 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 Usher s Syndrome written by and published by . This book was released on 1988 with total page 93 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Becoming Agie written by Grigory Ryzhakov and published by Createspace Independent Publishing Platform. This book was released on 2012-12-28 with total page 112 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Becoming Agie" consists of two novellas about a M->F transsexual scientist called Agie. In "Usher Syndrome" she opens her heart to someone who would accept her for what she is. But her destiny has other plans and Agie has to fight for her love in the most challenging and unexpected way. In "Pumpkin Day" Agie tries to solve a mysterious disappearance of a giant pumpkin into a cavern beneath Slown City. Meanwhile, a lonely, well-to-do man called Jake has to choose between courage and prejudice to pursue his love interest. A lost notebook brings the two lives together. "Usher Syndrome" was adapted for stage and performed at London's Barons Court Theatre in 2010.
Download or read book Ushered Out of Darkness written by Michael J Garrigan and published by Xulon Press. This book was released on 2021-11-08 with total page 202 pages. Available in PDF, EPUB and Kindle. Book excerpt: Born with a severe hearing impairment, author Mike Garrigan learned to be a highly-competitive fighter early on, with a never-give-up attitude, which was usually enough to overcome the challenges and struggles he faced in his early years. Yet, nothing could have prepared him for the unexpected storm that bore down on him as he entered his college years. A routine eye exam resulted in the diagnosis of an incurable disease, which hit him like a hurricane as he struggled to understand it. He learned that the disease, Usher Syndrome Type II, would slowly rob him of his vision and eventually result in blindness. His future appeared to be over before it had even begun. After graduating from college, Garrigan moved from the Midwest to Atlanta, Georgia, to pursue a career. Garrigan decided to try to take control of his future, press forward in his own strength, and fight for the normal life he had always imagined. His disease, however, had other plans. As he marched toward blindness, he found himself taken by surprise once again. No one had prepared him for a storm of another kind: Garrigan found himself vulnerable and trapped in the miserable dark hole of depression, hopelessness, and suffering. Then something happened that changed everything. How could this pivotal moment possibly offer a way out of the trap he found himself in? How could joy and hope for the future spring forth again? Readers will find these answers and inspiration in Garrigan's USHERED OUT OF DARKNESS. Mike Garrigan is a graduate of Ohio University and worked in the technology field for most of his career. He is the father of two daughters and lives in Anderson, SC, with his wife, Becky, and guide dog: a golden retriever named Fuzz.
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 The First Steps in Seeing written by Robert W. Rodieck and published by Sinauer Associates Incorporated. This book was released on 1998-01-01 with total page 562 pages. Available in PDF, EPUB and Kindle. Book excerpt: The First Steps in Seeing is about the eyes, and how they capture an image and convert it to the neural messages that ultimately result in visual experience. A full appreciation of how the eyes work is rooted in diverse areas of science-optics; biochemistry and photochemistry; molecular biology, cell biology, neurobiology, and evolutionary biology; psychology and psychophysics. The findings related to vision from any one of these fields are not difficult to understand in themselves, but, in order to be clear and precise, each discipline has developed its own set of words and conceptual relations-in effect, its own language-and for those wanting a broad introduction to vision these separate languages can present more of an impediment to understanding than an aid. However, what lies beneath these words usually has a beautiful simplicity, and it is the aim of The First Steps in Seeing to describe how we see in a manner that is understandable to all. In this book, the use of technical terms is restricted, and several hundred full-color illustrations ensure that the terms that are used are associated with a picture, icon, or graph that visually expresses their meaning. Experimental findings have been recast in terms of the natural world whenever possible, and broad themes bring together lines of thought that are often treated separately. Fourteen main chapters form a "thread" that tells the main scientific story and can be read without specialized knowedge or reliance on other sources. This thread is linked to fourteen discussions which explore certain crucial topics in greater depth. Notes link the material presented in the thread and in the special topics discussions to important review articles and seminal research papers. The First Steps in Seeing is an innovative, authoritative work that belongs in the library of anyone with an interest in visual perception.
