Macular Dystrophies
Macular Dystrophies

Author: Giuseppe Querques

Publisher: Springer

Published: 2016-02-15

Total Pages: 128

ISBN-13: 3319266217

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​This book provides the ophthalmologist with the most recently available data on the macular dystrophies, a group of many different inherited or sporadic eye conditions linked by a problem with photoreceptors or other structures of the central retina. Internationally recognized experts in the field present the latest evidence and discuss their own personal experiences with regard to each of the principal dystrophies as well as some very rare entities. Topics covered include molecular biology, state-of-the-art diagnostic techniques, and the newest treatment options, including still experimental therapies. Attention is also devoted to a range of issues that continue to be debated. The editors have taken care to ensure that chapters are of a uniformly high standard while not sacrificing the originality of the individual authors. Macular Dystrophies will fully acquaint the reader with both the latest research findings and the current and emerging approaches to diagnosis and treatment.

Genetic Diseases of the Eye
Genetic Diseases of the Eye

Author: Elias I. Traboulsi

Publisher: OUP USA

Published: 2012-01-12

Total Pages: 940

ISBN-13: 0195326148

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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.

Genomic Disorders
Genomic Disorders

Author: James R. Lupski

Publisher: Springer Science & Business Media

Published: 2007-11-10

Total Pages: 419

ISBN-13: 1597450391

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A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Molecular Basis of Nutrition and Aging
Molecular Basis of Nutrition and Aging

Author: Marco Malavolta

Publisher: Academic Press

Published: 2016-04-15

Total Pages: 786

ISBN-13: 0128018275

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Molecular Basis of Nutrition and Aging: A Volume in the Molecular Nutrition Series focuses on the nutritional issues associated with aging and the important metabolic consequences of diet, nutrition, and health. The book is subdivided into four parts that reflect the impact of nutrition from a biomolecular level to individual health. In Part One, chapters explore the general aspects of aging, aging phenotypes, and relevant aspects of nutrition related to the elderly and healthy aging. Part Two includes molecular and cellular targets of nutrition in aging, with chapters exploring lipid peroxidation, inflammaging, anabolic and catabolic signaling, epigenetics, DNA damage and repair, redox homeostasis, and insulin sensitivity, among others. Part Three looks at system-level and organ targets of nutrition in aging, including a variety of tissues, systems, and diseases, such as immune function, the cardiovascular system, the brain and dementia, muscle, bone, lung, and many others. Finally, Part Four focuses on the health effects of specific dietary compounds and dietary interventions in aging, including vitamin D, retinol, curcumin, folate, iron, potassium, calcium, magnesium, zinc, copper, selenium, iodine, vitamin B, fish oil, vitamin E, resveratrol, polyphenols, vegetables, and fruit, as well as the current nutritional recommendations. - Offers updated information and a perspectives on important future developments to different professionals involved in the basic and clinical research on all major nutritional aspects of aging - Explores how nutritional factors are involved in the pathogenesis of aging across body systems - Investigates the molecular and genetic basis of aging and cellular senescence through the lens of the rapidly evolving field of molecular nutrition

Genetic Predisposition to Disease
Genetic Predisposition to Disease

Author: Sara L. Torres

Publisher:

Published: 2008

Total Pages: 322

ISBN-13:

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A genetic predisposition is a genetic effect which influences the phenotype of an organism but which can be modified by the environmental conditions. Genetic testing is able to identify individuals who are genetically predisposed to certain health problems such as cancer or other life altering diseases. This book discusses the determination of the genetic basis of health problems that will help the precise mechanisms of health problem such as a disease or physical disorder.

The Retina and Its Disorders
The Retina and Its Disorders

Author: Joseph Besharse

Publisher: Academic Press

Published: 2011-04-25

Total Pages: 930

ISBN-13: 0123821983

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This selection of articles from the Encyclopedia of the Eye covering retina, optics/optic nerve and comparative topics constitutes the first reference for scientists, post docs, and graduate students with an interest beyond standard textbook materials. It covers the full spectrum of research on the retina - from the basic biochemistry of how nerve cells are created to information on neurotransmitters, comparisons of the structure and neuroscience of peripheral vision systems in different species, and all the way through to injury repair and other clinical applications. The first single volume to integrate comparative studies into a comprehensive resource on the neuroscience of the retina Chapters are carefully selected from the Encyclopedia of the Eye by one of the world's leading vision researchers The best researchers in the field provide their conclusions in the context of the latest experimental results

Retina, Vitreous, Macula
Retina, Vitreous, Macula

Author: David R. Guyer

Publisher:

Published: 1999

Total Pages: 920

ISBN-13:

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The most comprehensive, state-of-the-art treatise on vitreoretinal-macular disease, written by the leading international authorities in the subspecialty. It features outstanding color photographs throughout the text, and includes coverage of ICG angiography*a new gold standard for diagnostics in macular disease. Outstanding illustrations from the collection of W. Richard Green, MD, illustrate clinicopathologic correlations. The book includes comprehensive coverage of surgical and laser treatments as well.

Fundus Autofluorescence
Fundus Autofluorescence

Author: Noemi Lois

Publisher: Lippincott Williams & Wilkins

Published: 2012-02-13

Total Pages: 303

ISBN-13: 1451152809

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Featuring over 250 illustrations, this detailed full-color textbook provides up-to-date information on the use of fundus autofluorescence imaging in evaluation of retinal disease. Chapters describe the techniques available to image and quantify fundus autofluorescence and the autofluorescence patterns observed in the healthy eye and in various retinal diseases. Emphasis is on the value of fundus autofluorescence as a diagnostic and prognostic tool and its clinical utility in the context of other imaging techniques, such as fluorescein and indocyanine green angiography and optical coherence tomography. Each chapter also discusses the value of fundus autofluorescence in understanding the pathogenesis of the condition, and provides a comprehensive update on all aspects of the condition. A companion Website will offer the fully searchable text and an image bank.

Genetics and Genomics of Eye Disease
Genetics and Genomics of Eye Disease

Author: Xiaoyi Raymond Gao

Publisher: Academic Press

Published: 2019-09-12

Total Pages: 386

ISBN-13: 0128167270

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Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research. - Offers thorough guidance on conducting genetic and genomic studies of eye disease - Examines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disorders - Discusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling