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 588 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 Gyrate Atrophy of the Choroid and Retina Associated with Hyperornithinaemia written by Kirsti Takki and published by . This book was released on 1975 with total page 54 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Biomarkers in Inborn Errors of Metabolism written by Uttam Garg and published by Elsevier. This book was released on 2017-06-07 with total page 477 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. - Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens - Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers - Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism - Offers guidance on how to distinguish acquired causes from inborn errors of metabolism
Download or read book Inherited Metabolic Diseases written by Georg F. Hoffmann and published by Springer Science & Business Media. This book was released on 2009-11-21 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.
Download or read book Inherited Retinal Disease written by Hyeong-Gon Yu and published by Springer Nature. This book was released on 2022-03-11 with total page 237 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents the latest knowledge and expert guidance on all aspects of inherited retinal diseases, including molecular genetics, diagnosis, clinical features, general principles of treatment, novel treatment methods, and genetic counseling. Recent years have witnessed great advances in understanding of the genetic and cytological background of these diseases. Genetic analysis methods such as next generation sequencing have remarkably reduced the cost and time required for massive analysis of patients’ samples. Studies on gene therapy and stem cell therapy have been successfully carried out in animal models, and gene therapy is now available for Leber congenital amaurosis caused by RPE65 mutations. Against this background, Inherited Retinal Disease will be an invaluable up-to-date resource for ophthalmologists, medical students, and researchers in ocular inflammation. In addition to supplying essential information on each individual disorder, it features many interesting cases contributed by global leaders in the field as well as clinical photographs obtained with newer imaging techniques and numerous images of rare but clinically important diseases.
Download or read book Practical Guide to Neurogenetics E Book written by Thomas T. Warner and published by Elsevier Health Sciences. This book was released on 2008-11-04 with total page 343 pages. Available in PDF, EPUB and Kindle. Book excerpt: This simple guide to neurogenetics demystifies the overwhelming amount of information on the subject so you can identify key clinical features and understand your management options. Reach relevant differential diagnoses and provide appropriate counseling to your patients using the symptom-based approach. By integrating genetic and neurological approaches to diagnoses, this book ensures that the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis are clear and explicit. Concise and portable, this book is ideal for easy reference in clinical use. Details the underlying basic science and clinical features of genetic disorders by taking a symptom-based approach to provide you with a comprehensive understanding of the field. Focuses on the clinical application of neurogenetics to be of practical use to you in the clinic. Clarifies the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis by integrating genetic and neurological approaches to diagnoses. Discusses and evaluates necessary investigations so you know when to use them and when to refer. Highlights diagnostic and therapeutic tips so you can learn new concepts or refine your skills in practice. Refers to online sources, such as Online Mendelian Inheritance in Man (OMIM) and others, to help you supplement your knowledge.
Download or read book The Eye in Pediatric Systemic Disease written by Alex V. Levin and published by Springer. This book was released on 2017-06-20 with total page 836 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is the first of its kind to describe ocular manifestations of systemic diseases in the pediatric population. Written and edited by experts in areas of pediatric ophthalmology and genetics, this new text covers a multitude of topics in a comprehensive and cataloged fashion. The Eye in Pediatric Systemic Disease is designed as an in-depth and up-to-date reference work that is heavily referenced, thus allowing the reader ready access to the international supporting literature. Everything from ocular manifestations of hematologic disease, child abuse, psychiatric diseases, renal disorders, and vitamin disorders are covered, allowing readers to know what to look for in the eyes of children with a given systemic disorder. The Eye in Pediatric Systemic Disease is written in language that is accessible to ophthalmologists and pediatricians, as well as allied health care professionals.
Download or read book Pediatric Retina written by James D. Reynolds and published by Springer Science & Business Media. This book was released on 2010-09-14 with total page 459 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pediatric retinal diseases are not simply retinal diseases that occur in children; rather, they are unique disorders that often are not found in adults. This textbook of the pediatric retina offers in-depth guidance on congenital and acquired diseases of the retina in the pediatric population. It is organized according to disease onset and timing, as well as anatomy. All chapters are written by leading authorities in the field from both the pediatric and the retinal perspective. A multidisciplinary approach to the topic is adopted, and critical information is included on disease classification and diagnosis, pathophysiology, genetics, complications, and prognosis. Pediatric Retina will be a useful source of information for pediatric ophthalmologists, retina specialists, and other eye care providers who care for children.
Download or read book General Methods in Biomarker Research and their Applications written by Victor R. Preedy and published by Springer. This book was released on 2015-08-14 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the past decade there has been a major sea change in the way disease is diagnosed and investigated due to the advent of high throughput technologies, such as microarrays, lab on a chip, proteomics, genomics, lipomics, metabolomics etc. These advances have enabled the discovery of new and novel markers of disease relating to autoimmune disorders, cancers, endocrine diseases, genetic disorders, sensory damage, intestinal diseases etc. In many instances these developments have gone hand in hand with the discovery of biomarkers elucidated via traditional or conventional methods, such as histopathology or clinical biochemistry. Together with microprocessor-based data analysis, advanced statistics and bioinformatics these markers have been used to identify individuals with active disease or pathology as well as those who are refractory or have distinguishing pathologies. New analytical methods that have been used to identify markers of disease and is suggested that there may be as many as 40 different platforms. Unfortunately techniques and methods have not been readily transferable to other disease states and sometimes diagnosis still relies on single analytes rather than a cohort of markers. There is thus a demand for a comprehensive and focused evidenced-based text and scientific literature that addresses these issues. Hence the formulation of Biomarkers in Disease. The series covers a wide number of areas including for example, nutrition, cancer, endocrinology, cardiology, addictions, immunology, birth defects, genetics and so on. The chapters are written by national or international experts and specialists.
Download or read book Macular Dystrophies written by Giuseppe Querques and published by Springer. This book was released on 2016-02-15 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Diet Brain Connections written by Mark Paul Mattson and published by Springer Science & Business Media. This book was released on 2002-08-31 with total page 284 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Diet - Brain Connections fills a void between the fields of nutrition, behavior and cellular and molecular neurosciences by providing an integrated collection of articles that critically dissect the link between what we eat and how the brain develops and functions in health and disease ... This book provides an unprecedented resource for scientists in academia and government labs as well as in the pharmaceutical, nutraceutical and food industries" -- Back cover.
Download or read book Pathology of the Eye written by G.O.H. Naumann and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 1025 pages. Available in PDF, EPUB and Kindle. Book excerpt: It is indeed a pleasure to write a foreword for this spectacular book which represents a landmark in the history of ocular pathology. Not since the three volumes of the Henke-Lubarsch handbook appeared forty years ago has anything like this come on the market. This book represents a compre hensive, thorough and up-to-date clinically oriented textbook on ocular pathology. We are all indebted to the senior author, who is now professor of ophthal mology at the University of Erlangen, who presents us here with the fruit of decades of industrious endeavors. We also have to be grateful to the American ophthalmic pathologist, Dr. David Apple, who, as one of the main collaborators of the German edition, has now provided us with the English translation. The book has a twofold purpose: First, it is meant to be a source of instruction for ophthalmologists and pathologists. For that purpose it is beautifully illustrated both by clinical pictures and by excellent photomicro graphs and electromicroscopic pictures. Most valuable from a didactic point of view are the colored schematic drawings and the many tables. These two features are practically unique and should help any neophyte in grasp ing the principles of ocular pathology.
Download or read book Dorland s Dictionary of Medical Acronyms and Abbreviations written by Dorland and published by Elsevier Health Sciences. This book was released on 2015-07-24 with total page 481 pages. Available in PDF, EPUB and Kindle. Book excerpt: Medical acronyms and abbreviations offer convenience, but those countless shortcuts can often be confusing. Now a part of the popular Dorland's suite of products, this reference features thousands of terms from across various medical specialties. Its alphabetical arrangement makes for quick reference, and expanded coverage of symbols ensures they are easier to find. Effective communication plays an important role in all medical settings, so turn to this trusted volume for nearly any medical abbreviation you might encounter. - Symbols section makes it easier to locate unusual or seldom-used symbols. - Convenient alphabetical format allows you to find the entry you need more intuitively. - More than 90,000 entries and definitions. - Many new and updated entries including terminology in expanding specialties, such as Nursing; Physical, Occupational, and Speech Therapies; Transcription and Coding; Computer and Technical Fields. - New section on abbreviations to avoid, including Joint Commission abbreviations that are not to be used. - Incorporates updates suggested by the Institute for Safe Medication Practices (ISMP).
Download or read book The Skin and Gene Therapy written by Ulrich R. Hengge and published by Springer Science & Business Media. This book was released on 2001 with total page 336 pages. Available in PDF, EPUB and Kindle. Book excerpt: Basic Aspects.- 1 The Epidermal Barrier and Strategies for Surmounting It: An Overview.- 2 Stem Cells, Differentiation and Renewal Kinetics of Keratinocytes: Implications for Cutaneous Gene Therapy.- 3 Relevant Animal Models for Skin Gene Therapy.- 4 Nonviral Gene Transfer into the Skin.- 5 Safety and Pharmacokinetics of Naked Plasmid DNA: Studies on Dissemination and Ectopic Expression.- 6 Uptake of DNA by Keratinocytes.- Treatment of Skin Diseases.- Gene Therapy of Inherited Skin Diseases.- Gene Transfer Strategies in Tissue Repair.- Systemic Effects of Skin Gene Therapy.- The Use of Skin-Directed Gene Therapy in the Treatment of Systemic Diseases.- Keratinocyte Gene Therapy Using Cytokine Genes.- Genetic Vaccination Using the Skin.- Principles of Genetic Immunization.- Systematic Modulation of Immune Responses by CpG DNA.- Genetic and Dendritic Cell Vaccination as a Novel Therapy for Melanoma.- Molecular Strategies Interfering with Tumor Progression of Melanoma and Improving Anti-Tumor Immunity.- Prophylactic and Therapeutic DNA Vaccines Against Infectious Diseases.
Download or read book Physician s Guide to the Laboratory Diagnosis of Metabolic Diseases written by N. Blau and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 732 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are three indices to make the book as user-friendly as possible.
Download or read book Nutrition and Functional Foods for Healthy Aging written by Ronald Ross Watson and published by Academic Press. This book was released on 2017-02-01 with total page 387 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nutrition and Functional Foods for Healthy Aging aims to equip anyone studying geriatric nutrition or working with aging adults with the latest scientific reviews of critical topics. The major objective of this book is to review, in detail, the health problems of the aged and how normal food, lifestyle, or nutritional and dietary supplements can help treat them. Nutrient requirements for optimum health and function of aging physiological systems are often quite distinct from those required for young people. The special nutrition problems of the aged are intensively researched and tested, especially as the elderly become a larger percentage of the population. Many chronic diseases and cancers are found with higher frequency in the aged, and it is also widely known that many elderly people use foods and nutrients well above the recommended daily allowance, which can be detrimental to optimal health. - Explains the evidence supporting nutritional interventions relevant to age-related diseases - Reviews the macro- and micro-nutrient requirements of aging adults and their variables - Describes how alcohol, drugs, and caffeine can impact deficiencies, also exploring functional food and dietary supplements that can be used for prevention and treatment
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 250 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.
