Clinical Ophthalmic Genetics and Genomics PDF Download
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Author: Graeme C.M. Black
Publisher: Academic Press
ISBN: 0128139455
Category : Medical
Languages : en
Pages : 492
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Book Description
Clinical Ophthalmic Genetics and Genomics provides an accessible, clinically-focused reference for the evolving field of Genetic Ophthalmology. This well-organised, easy-to-read textbook integrates key concepts with clinical practice and is designed to enhance effective learning and retention of complex material. It includes contributions from recognised leaders in the field and provides expert guidance on the complete spectrum of genetic ophthalmic disorders. - A structured introductory section offering a practical guide to the processes involved in diagnosing patients with genetic ophthalmic disorders - Expert guidance on the complete spectrum of genetic ophthalmic disorders from leading international clinicians and researchers - Well-organised with streamlined, templated chapters and a user-friendly layout that provides quick access to clinically relevant information, and is designed to help ophthalmologists, geneticists, and genetic counsellors in the clinic room
Author: Graeme C.M. Black
Publisher: Academic Press
ISBN: 0128139455
Category : Medical
Languages : en
Pages : 492
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Book Description
Clinical Ophthalmic Genetics and Genomics provides an accessible, clinically-focused reference for the evolving field of Genetic Ophthalmology. This well-organised, easy-to-read textbook integrates key concepts with clinical practice and is designed to enhance effective learning and retention of complex material. It includes contributions from recognised leaders in the field and provides expert guidance on the complete spectrum of genetic ophthalmic disorders. - A structured introductory section offering a practical guide to the processes involved in diagnosing patients with genetic ophthalmic disorders - Expert guidance on the complete spectrum of genetic ophthalmic disorders from leading international clinicians and researchers - Well-organised with streamlined, templated chapters and a user-friendly layout that provides quick access to clinically relevant information, and is designed to help ophthalmologists, geneticists, and genetic counsellors in the clinic room
Author: B. Wissinger
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318009717
Category : Medical
Languages : en
Pages : 230
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Book Description
The objective of this publication is to enhance mutual understanding and communication between ophthalmologists, molecular geneticists, genetic counselors and biomedical researchers. In the introductory chapter, current genetic paradigms and experimental genetic approaches relevant to the nature of hereditary disorders are discussed. The following contribution on the epidemiology of hereditary ocular disorders provides an excellent reference to geneticists as well as clinicians. Myopia is presented as an example of a complex clinical phenotype where genes and environment interact. Further molecular ophthalmogenetic topics, such as corneal dystrophies, cataract, glaucoma, opticus neuropathy, non-syndromic and syndromic pigmentary retinopathies, defects of vitamin A metabolism and macular dystrophies including age-related macular degeneration, are investigated in depth. The volume concludes with a survey of color vision deficiencies, a discussion of animal models and gene therapy, and a useful description of technical devices supporting patients who are losing sight.
Author: Elias I. Traboulsi
Publisher: OUP USA
ISBN: 0195326148
Category : Medical
Languages : en
Pages : 940
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Book Description
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.
Author: Dhavendra Kumar
Publisher: Oxford University Press
ISBN: 0199720053
Category : Medical
Languages : en
Pages : 672
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Book Description
An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication,and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.
Author: Dhavendra Kumar
Publisher:
ISBN: 019989602X
Category : Medical
Languages : en
Pages : 853
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Book Description
The first edition of Genomics and Clinical Medicine provided an overview of genomics-based advances in disease susceptibility, diagnosis, and prediction of treatment outcomes in various areas of medicine. Since its publication, the science of genomics has made tremendous progress, and exciting new developments in biotechnology and bioinformatics have created possibilities that were inconceivable only a few years ago. This completely revised second edition of Genomic Medicine reflects the rapidly changing face of applied and translational genomics in the medical and health context and provides a comprehensive coverage of principles of genetics and genomics relevant to the practice of medicine.
Author: John V. Forrester
Publisher: Elsevier Health Sciences
ISBN: 0702055549
Category : Medical
Languages : en
Pages : 660
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Book Description
The Eye: Basic Sciences in Practice provides highly accessible, concise coverage of all the essential basic science required by today's ophthalmologists and optometrists in training. It is also essential reading for those embarking on a career in visual and ophthalmic science, as well as an invaluable, current refresher for the range of practitioners working in this area. This new fourth edition has now been fully revised and updated in line with current curricula, key research developments and clinical best practice. It succinctly incorporates the massive strides being made by genetics and functional genomics based on the Human Genome Project, the new understanding of how the microbiome affects all aspects of immunology, the remarkable progress in imaging technology now applied to anatomy and neurophysiology, as well as exciting new molecular and other diagnostic methodologies now being used in microbiology and pathology. All this and more collectively brings a wealth of new knowledge to students and practitioners in the fields of ophthalmology and visual science. For the first time, this (print) edition also now comes with bonus access to the complete, fully searchable electronic text - including carefully selected additional information and new video content to further explain and expand on key concepts - making The Eye a more flexible, comprehensive and engaging learning package than ever before. The only all-embracing textbook of basic science suitable for trainee ophthalmologists, optometrists and vision scientists - other books concentrate on the individual areas such as anatomy. Attractive page design with clear, colour diagrams and text boxes make this a much more accessible book to learn from than many postgraduate textbooks. Presents in a readable form an account of all the basic sciences necessary for an understanding of the eye - anatomy, embryology, genetics, biochemistry, physiology, pharmacology, immunology, microbiology and infection and pathology. More on molecular pathology. Thorough updating of the sections on pathology, immunology, pharmacology and immunology. Revision of all other chapters. More colour illustrations Comes with complete electronic version
Author: Xiaoyi Raymond Gao
Publisher: Academic Press
ISBN: 0128167270
Category : Science
Languages : en
Pages : 386
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Book Description
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
Author: Hans J. ten Donkelaar
Publisher: Springer Nature
ISBN: 3031260988
Category : Medical
Languages : en
Pages : 926
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Book Description
This book provides a comprehensive overview of the development of the human central nervous system (CNS) in the context of its many developmental disorders due to genetic, environmental and hypoxic/ischaemic causes. The book contains three general, introductory chapters in which an overview of the development of the human brain and spinal cord, a summary of mechanisms of development as obtained in experimental studies in various invertebrates and vertebrates, and an overview of the causes of congenital malformations are presented. The developmental disorders of the human brain and spinal cord are presented in a regional, more or less segmental way, starting with neurulation and neural tube defects, and ending with developmental disorders of the cerebral cortex. These chapters are abundantly illustrated in colour with carefully chosen clinical case studies with imaging data, and when available, postmortem verification of the developmental disorders involved. In the third edition, more emphasis has been given to the developmental ontology based on the prosomeric approach, and fetal development. Prenatal diagnosis by ultrasound, MRI and DTI, and classifications of developmental disorders have been updated. A number of new Clinical Cases have been included. Several new co-authors participate in various chapters. The book is intended for advanced medical students, and all those clinicians working with children and adults with developmental disorders of the CNS. Unique to the book is the integration of data from human embryology, experimental and molecular findings in mice in particular, imaging and developmental neuropathology.
Author: Alastair K. O. Denniston
Publisher: Oxford University Press
ISBN: 019252674X
Category : Medical
Languages : en
Pages : 1249
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Book Description
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.
Author: Alf Nicholson
Publisher: Elsevier Health Sciences
ISBN: 0443108757
Category : Medical
Languages : en
Pages : 269
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Book Description
Written by clinicians with years of experience in paediatrics, this unique textbook is designed to promote quality and safe care of children, and reduce common clinical errors and delayed diagnoses through shared first-hand experiences. This book is for anyone who needs to make a clinical decision about infants and children- be they from a medical, nursing or health professional background. The text is particularly useful for trainees but is also relevant to experienced practitioners. The aim of the book is to prevent errors and ensure safe care. The authors offer practical advice on potential pitfalls and red flags from neonatal care to mental health issues in adolescence . This book takes the reader through recent advances in diagnosis, common presentations and how to identify the sick child, all with case studies and illustrations to bring the text to life.The strengths of the book are: - The ability to learn from other's experiences and mistakes and share this learning - All chapters reviewed by sub-specialists in Paediatrics with a focus on presentations to first responders including family practitioners - Instructive case scenarios highlighting clinical pearls and pitfalls to avoid - High-quality clinical images throughout Unique chapters on: - Safe care for infants and children including the use of artificial intelligence - Avoiding errors - Picking up the sick child with practical tips especially for family doctors and first responders - Potential pitfalls in both the newborn and 6-week examinations - Unravelling the diagnosis in an infant or child with a fever - Key symptoms and signs guiding family doctors to suspect cancer in childhood - Mental health issues in adolescence - Ordering and interpreting tests in children - Surviving and thriving throughout a career in paediatric nursing or medicine
