Ushers Syndrome

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Not Fade Away

Author : Rebecca Alexander (Psychotherapist)
Publisher : Avery
ISBN 13 : 1592408311
Total Pages : 322 pages
Book Rating : 4.5/5 (924 download)

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Book Synopsis Not Fade Away by : Rebecca Alexander (Psychotherapist)

Download or read book Not Fade Away written by Rebecca Alexander (Psychotherapist) and published by Avery. This book was released on 2014 with total page 322 pages. Available in PDF, EPUB and Kindle. Book excerpt: "The inspiring memoir of a young woman who is slowly losing her sight and hearing yet continues to live each day with grace and purpose. Thirty-four-year-old Rebecca Alexander is a psychotherapist, a spin instructor, a volunteer, and an athlete. She is also almost completely blind, with significantly deteriorated hearing. Not Fade Away is a deeply moving exploration of the obstacles we all face-physical, psychological, and philosophical. Like The Diving Bell and the Butterfly, Rebecca's story is an exquisite reminder to live each day to its fullest. When Rebecca was twelve, her parents were told that she would be completely blind before she turned thirty. At eighteen, she fell through a window, shattering her body. In college, she found out that due to a rare genetic disorder-Usher Syndrome Type III-she was losing her hearing as well. Since then, she has earned two Master's degrees from Columbia University, ridden a six-hundred-mile bike race, hiked the Inca Trail, and established a thriving career-all while maintaining a vibrant social life. In Not Fade Away, Rebecca charts her journey from a teenager who tried to hide her disabilities, to a woman who is able to face the world exactly as she is. She meditates on what she's lost-the sound of laughter and skies full of stars, which she can now only imagine (though, she quips, "It's not like anyone can see stars in New York anyway")-and what she's found in return: an exquisite sense of intimacy with family and friends who've stuck by her, and a profound appreciation for everything she still has. Even though Rebecca inhabits a gradually darkening world, she refuses to let that stop her from living life with joy and enthusiasm."--

Healing Your Eyes with Chinese Medicine

Author : Andy Rosenfarb
Publisher : North Atlantic Books
ISBN 13 : 1583944699
Total Pages : 201 pages
Book Rating : 4.5/5 (839 download)

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Book Synopsis Healing Your Eyes with Chinese Medicine by : Andy Rosenfarb

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.

Pharmacoepigenetics

Author : Ramón Cacabelos
Publisher : Academic Press
ISBN 13 : 0128139404
Total Pages : 986 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Pharmacoepigenetics by : Ramón Cacabelos

Download or read book Pharmacoepigenetics written by Ramón Cacabelos and published by Academic Press. This book was released on 2019-06-04 with total page 986 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pharmacoepigenetics 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

Usher's Syndrome

Author : Earlene Duncan
Publisher : Charles C. Thomas Publisher
ISBN 13 :
Total Pages : 116 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Usher's Syndrome by : Earlene Duncan

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:

Genetic Hearing Loss

Author : Patrick J. Willems
Publisher : CRC Press
ISBN 13 : 0824756886
Total Pages : 453 pages
Book Rating : 4.8/5 (247 download)

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Book Synopsis Genetic Hearing Loss by : Patrick J. Willems

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.

Handbook of Pediatric Retinal OCT and the Eye-Brain Connection E-Book

Author : Cynthia A. Toth
Publisher : Elsevier Health Sciences
ISBN 13 : 0323609856
Total Pages : 371 pages
Book Rating : 4.3/5 (236 download)

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Book Synopsis Handbook of Pediatric Retinal OCT and the Eye-Brain Connection E-Book by : Cynthia A. Toth

Download or read book Handbook of Pediatric Retinal OCT and the Eye-Brain Connection E-Book 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

Synopsis of Ophthalmology

Author : Jack J. Kanski
Publisher : Butterworth-Heinemann
ISBN 13 : 1483281248
Total Pages : 250 pages
Book Rating : 4.4/5 (832 download)

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Book Synopsis Synopsis of Ophthalmology by : Jack J. Kanski

Download or read book Synopsis of Ophthalmology written by Jack J. Kanski and published by Butterworth-Heinemann. This book was released on 2014-05-03 with total page 250 pages. Available in PDF, EPUB and Kindle. Book excerpt: Synopsis of Ophthalmology, Sixth Edition provides information pertinent to the main aspects of ophthalmology. This book provides the correct diagnosis and treatment of many ocular disorders. Organized into 15 chapters, this edition begins with an overview of the various disorders of the eyelids, including cystic lesions, tumors, involution entropion, and neurogenic ptosis. This text then explains the cause of infiltrative ophthalmopathy, which is the increase in mucopolysaccharides in extraocular muscles leading to enlargement, fibrosis, and restrictive myopathy. Other chapters consider some of the more serious ophthalmological emergencies, including retinal vascular disorders, intraocular tumors, inflammatory glaucomas, retinal detachments, uveitis, conjunctivitis, corneal lesions, cataract, ectopia lentis, and acquired maculopathies. This book discusses as well the earliest clinical manifestations of age-related macular degeneration. The final chapter deals with the diagnosis, clinical features, signs and treatment of myopathies of extraocular muscles. This book is a valuable resource for ophthalmologists, clinicians, and postgraduate students.

CHARGE Syndrome, Second Edition

Author : Timothy S. Hartshorne
Publisher : Plural Publishing
ISBN 13 : 1635506573
Total Pages : 555 pages
Book Rating : 4.6/5 (355 download)

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Book Synopsis CHARGE Syndrome, Second Edition by : Timothy S. Hartshorne

Download or read book CHARGE Syndrome, Second Edition written by Timothy S. Hartshorne and published by Plural Publishing. This book was released on 2021-01-12 with total page 555 pages. Available in PDF, EPUB and Kindle. Book excerpt: It was first described in 1979, named in 1981, and in 2004 a gene for CHARGE was identified. In addition to a host of other conditions, most individuals have communication-related problems, including hearing, vision, balance, breathing, swallowing, and speech. Each of the editors is an established expert on CHARGE syndrome and has received the highest award bestowed by the CHARGE Syndrome Foundation, the Stars in CHARGE. They represent three different disciplines: psychology, genetic counseling, and clinical pediatrics. Additional information and studies on CHARGE have advanced to the degree that warrant a second edition of this book. As in the first edition, this book describes the sensory, physical, communicative, and behavioral findings in CHARGE. Authors include experts in the field, including a number from the CHARGE Center at Cincinnati Children’s Hospital Medical Center. New to the Second Edition: * Co-Editor, Kim D. Blake, MD * A chapter on Educational Issues has been added * Reorganized for a greater flow of information * All chapters have been revised and updated * References have been completely updated * More images and illustrations * Includes related videos Disclaimer: Please note that ancillary content (such as documents, audio, and video, etc.) may not be included as published in the original print version of this book.

Genetic Diseases of the Eye

Author : Elias I. Traboulsi
Publisher : OUP USA
ISBN 13 : 0195326148
Total Pages : 940 pages
Book Rating : 4.1/5 (953 download)

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Book Synopsis Genetic Diseases of the Eye by : Elias I. Traboulsi

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.

Cochlear Implants in Young Deaf Children

Author : Elmer Owens
Publisher : Austin, Tex. : Pro-ed
ISBN 13 : 9780890793954
Total Pages : pages
Book Rating : 4.7/5 (939 download)

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Book Synopsis Cochlear Implants in Young Deaf Children by : Elmer Owens

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:

The First Steps in Seeing

Author : Robert W. Rodieck
Publisher : Sinauer Associates Incorporated
ISBN 13 : 9780878937578
Total Pages : 562 pages
Book Rating : 4.9/5 (375 download)

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Book Synopsis The First Steps in Seeing by : Robert W. Rodieck

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.

Hereditary Hearing Loss and Its Syndromes

Author : Helga V. Toriello
Publisher : Oxford University Press
ISBN 13 : 0199731969
Total Pages : 749 pages
Book Rating : 4.1/5 (997 download)

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Book Synopsis Hereditary Hearing Loss and Its Syndromes by : Helga V. Toriello

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 2013-08-08 with total page 749 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the third edition of the foremost medical reference on genetic hearing loss, updated to include new information on molecular mechanisms. It is an excellent resource for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and for clinical training programs and researchers in hearing sciences.

Handbook of Life Course Health Development

Author : Neal Halfon
Publisher : Springer
ISBN 13 : 3319471430
Total Pages : 667 pages
Book Rating : 4.3/5 (194 download)

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Book Synopsis Handbook of Life Course Health Development by : Neal Halfon

Download or read book Handbook of Life Course Health Development written by Neal Halfon and published by Springer. This book was released on 2017-11-20 with total page 667 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is open access under a CC BY 4.0 license. This handbook synthesizes and analyzes the growing knowledge base on life course health development (LCHD) from the prenatal period through emerging adulthood, with implications for clinical practice and public health. It presents LCHD as an innovative field with a sound theoretical framework for understanding wellness and disease from a lifespan perspective, replacing previous medical, biopsychosocial, and early genomic models of health. Interdisciplinary chapters discuss major health concerns (diabetes, obesity), important less-studied conditions (hearing, kidney health), and large-scale issues (nutrition, adversity) from a lifespan viewpoint. In addition, chapters address methodological approaches and challenges by analyzing existing measures, studies, and surveys. The book concludes with the editors’ research agenda that proposes priorities for future LCHD research and its application to health care practice and health policy. Topics featured in the Handbook include: The prenatal period and its effect on child obesity and metabolic outcomes. Pregnancy complications and their effect on women’s cardiovascular health. A multi-level approach for obesity prevention in children. Application of the LCHD framework to autism spectrum disorder. Socioeconomic disadvantage and its influence on health development across the lifespan. The importance of nutrition to optimal health development across the lifespan. The Handbook of Life Course Health Development is a must-have resource for researchers, clinicians/professionals, and graduate students in developmental psychology/science; maternal and child health; social work; health economics; educational policy and politics; and medical law as well as many interrelated subdisciplines in psychology, medicine, public health, mental health, education, social welfare, economics, sociology, and law.

Hereditary Hearing Loss and Its Syndromes

Author : Robert J. Gorlin
Publisher : Oxford University Press, USA
ISBN 13 : 9780195065527
Total Pages : 514 pages
Book Rating : 4.0/5 (655 download)

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Book Synopsis Hereditary Hearing Loss and Its Syndromes by : Robert J. Gorlin

Download or read book Hereditary Hearing Loss and Its Syndromes written by Robert J. Gorlin and published by Oxford University Press, USA. This book was released on 1995 with total page 514 pages. Available in PDF, EPUB and Kindle. Book excerpt: This definitive reference work replaces Konigsmark and Gorlin's Genetic and Metabolic Deafness (1976). Whereas the earlier volume covered 151 genetic conditions related to hearing loss, this work covers 435. As before, the authors first discuss isolated hereditary hearing loss and then present hearing loss syndromes such as those involving the nervous system, eye, external ear and musculoskeletal system. The discussions are authoritative, practical and well-illustrated, and those of the most important syndromes are very detailed. Introductory chapters deal with the history of the field, clinical approach, embryology of the ear, tooth anomalies and hearing loss, and related endocrine and metabolic disorders. Throughout, the authors pay careful attention to nomenclature and classification. This will be an invaluable resource for all professionals concerned with genetic hearing loss, including medical geneticists, audiologists and otolaryngologists.

A-Z of Syndromes and Inherited Disorders

Author : Patricia Gilbert
Publisher : Nelson Thornes
ISBN 13 : 9780748745296
Total Pages : 358 pages
Book Rating : 4.7/5 (452 download)

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Book Synopsis A-Z of Syndromes and Inherited Disorders by : Patricia Gilbert

Download or read book A-Z of Syndromes and Inherited Disorders written by Patricia Gilbert and published by Nelson Thornes. This book was released on 2000 with total page 358 pages. Available in PDF, EPUB and Kindle. Book excerpt: The incidence of handicap from syndromes and inherited disorders is worldwide and causes common problems for families and society. This book includes ten extra syndromes in an endeavour to keep up with the rapidly expanding knowledge associated with genetic disorders.

Hereditary Hearing Loss and Its Syndromes

Author : Helga V. Toriello
Publisher : Oxford University Press
ISBN 13 : 0199313881
Total Pages : 749 pages
Book Rating : 4.1/5 (993 download)

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Book Synopsis Hereditary Hearing Loss and Its Syndromes by : Helga V. Toriello

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.

Oxford Handbook of Ophthalmology

Author : Alastair K. O. Denniston
Publisher : Oxford University Press
ISBN 13 : 019252674X
Total Pages : 1249 pages
Book Rating : 4.1/5 (925 download)

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Book Synopsis Oxford Handbook of Ophthalmology by : Alastair K. O. Denniston

Download or read book Oxford Handbook of Ophthalmology written by Alastair K. O. Denniston and published by Oxford University Press. This book was released on 2018-05-24 with total page 1249 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fully revised and updated throughout, the fourth edition of the Oxford Handbook of Ophthalmology now includes free access to the ophthalmic online media bank, a selection of high-quality clinical images and videos for a wide breadth of key ophthalmic diseases. Clear, concise, and practical, this handbook provides immediate access to the detailed clinical information you need, in casualty, clinic, theatre, and on the wards. The core of the book comprises a systematic synopsis of ophthalmic disease directed towards diagnosis, interim assessment, and ongoing management. Assessment boxes for common clinical conditions and algorithms for important clinical presentations illustrate this practical approach. The information is easily accessible, presented in a clear format with areas of importance highlighted. Key sections for the trainee include: Clinical Skills, Aids to Diagnosis, Investigations and their Interpretation, Perioperative Care, Theatre Notes and Therapeutics. The wider practise of eye-care is supported by expanded chapters on Refractive Ophthalmology, Vision in Context, Evidence Based Ophthalmology and Resources for Ophthalmologists. Now including newer treatments across a range of specialities such as SMILE, gene-therapy and retinal prostheses, as well as greater emphasis on the evidence underlying current clinical practice and guidelines, this handbook has never been more essential for all those working in eye-care. Whether you want to learn about patient-reported outcomes, identify a surgical instrument, interpret a statistical test, or diagnose and treat ophthalmic emergencies, you will find it here. Whatever your role in caring for patients with eye disease: ophthalmologist, optometrist, orthoptist, ophthalmic nurse, or other health profession - discover for yourself why this handbook has become the 'go-to' resource for tens of thousands of eye-care professionals around the world.