Download or read book The Eye and Inborn Errors of Metabolism Bd Oas Xii 3 written by Bergsma and published by . This book was released on 1976-05 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book American Journal of Medical Genetics written by and published by . This book was released on 1984 with total page 846 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The Metabolic Basis of Inherited Disease written by John Bruton Stanbury and published by McGraw-Hill Companies. This book was released on 1983 with total page 2052 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Goldberg s Genetic and Metabolic Eye Disease written by William Andrew Renie and published by Little, Brown Medical Division. This book was released on 1986 with total page 600 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Physician s Guide to the Diagnosis Treatment and Follow Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2014-07-08 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
Download or read book Ophthalmology written by Frank W. Newell and published by . This book was released on 1978 with total page 650 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Ophthalmology Principles and Concepts written by Frank W. Newell and published by . This book was released on 1982 with total page 584 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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 Concepts and Principles of Pharmacology written by James E. Barrett and published by Springer Nature. This book was released on 2019-12-24 with total page 466 pages. Available in PDF, EPUB and Kindle. Book excerpt: Celebrating 100 years of HEP, this volume will discuss key pharmacological discoveries and concepts of the past 100 years. These discoveries have dramatically changed the medical treatment paradigms of many diseases and these concepts have and will continue to shape discovery of new medicinies. Newly evolving technologies will similarly be discussed as they will shape the future of the pharmacology and, accordingly, medical therapy.
Download or read book Embryo and Fetal Pathology written by Enid Gilbert-Barness and published by Cambridge University Press. This book was released on 2004-05-31 with total page 706 pages. Available in PDF, EPUB and Kindle. Book excerpt: Exhaustively illustrated in color with over 1000 photographs, figures, histopathology slides, and sonographs, this uniquely authoritative atlas provides the clinician with a visual guide to diagnosing congenital anomalies, both common and rare, in every organ system in the human fetus. It covers the full range of embryo and fetal pathology, from point of death, autopsy and ultrasound, through specific syndromes, intrauterine problems, organ and system defects to multiple births and conjoined twins. Gross pathologic findings are correlated with sonographic features in order that the reader may confirm visually the diagnosis of congenital abnormalities for all organ systems. Obstetricians, perinatologists, neonatologists, geneticists, anatomic pathologists, and all practitioners of maternal-fetal medicine will find this atlas an invaluable resource.
Download or read book Essentials of Interventional Techniques in Managing Chronic Pain written by Laxmaiah Manchikanti and published by Springer. This book was released on 2018-01-04 with total page 704 pages. Available in PDF, EPUB and Kindle. Book excerpt: This comprehensive review covers the full and latest array of interventional techniques for managing chronic pain. Chapters are grouped by specific treatment modalities that include spinal interventional techniques, nonspinal and peripheral nerve blocks, sympathetic interventional techniques, soft tissue and joint injections, and implantables. Practical step-by-step and evidence-based guidance is given to each approach in order to improve the clinician's understanding. Innovative and timely, Essentials of Interventional Techniques in Managing Chronic Pain is a critical resource for anesthesiologists, neurologists, and rehabilitation and pain physicians.
Download or read book Genetic Disorders Among Arab Populations written by Ahmad S. Teebi and published by Oxford University Press, USA. This book was released on 1997 with total page 538 pages. Available in PDF, EPUB and Kindle. Book excerpt: Few regions of the world have a more varied physiography or a richer ethnic, religious, social, and cultural mix than the Arab world. As a consequence, Arabs are genetically diverse despite their linguistic and religious cohesion. High but variable rates of inbreeding prevail in all Arab countries with numerous examples of isolates among them. These include some Bedouin groups, Nubians, Druze, Jews, and others. Arab populations have high frequencies of autosomal recessive disorders, homozygosity of autosomal dominant and X-linked traits, and a wealth of new syndromes and variants, the majority of which are autosomal recessive. Genetic disorders that cause major health problems include hemoglobinopathies, neurogenetic disorders, inherited metabolic diseases, and inborn error of morphogenesis. Because of their characteristically high prevalence, some of these disorders are considered markers for Arab populations. This book presents the unique profile of genetic disorders and variants in Arabs. In addition, it describes their unusual demographic pattern including fertility rates and other population dimensions, family structure, magnitude and effects of consanguineous marriages and indicators of health and disease. Genetic counseling and the distinctive cultural and religious attitudes towards various genetic issues are also presented. Disorders that have increased tribal occurrences or are limited to large kindreds, as well as small geographic or religious isolates, are highlighted to facilitate their recognition, study, and management.
Download or read book Inborn Disorders of Sphingolipid Metabolism written by Stanley M. Aronson and published by Elsevier. This book was released on 2017-01-31 with total page 530 pages. Available in PDF, EPUB and Kindle. Book excerpt: Inborn Disorders of Sphingolipid Metabolism is a collection of papers presented at the Third International Symposium on the Cerebral Sphingolipidoses and Allied Diseases, held at the Isaac Albert Research Institute of the Jewish Chronic Disease Hospital and at the State University of New York, Downstate Medical Center, on October 25 and 26, 1965. This book is organized into three parts encompassing 35 chapters. Part I deals first with electron microscopic, histochemical, and morphological investigations of certain sphingolipid metabolism disorders. This part also examines several case reports on the features and symptoms of spongy degeneration of the central nervous system, familial leukodystrophy, adrenal insufficiency, and cutaneous melanosis. Part II surveys the metabolism, biosynthesis, and structure of gangliosides and sialic acids. This part also considers the nature of the lipophilic portions of the brain gangliosides. This part particularly looks into the features and clinical manifestation of Tay-Sachs disease. The third part covers the genetic and clinical aspects of the Tay-Sachs disease. This part also evaluates the genetics of the Hurler-Hunter syndrome, Batten-Spielmeyer-Vogt disease, and lipogranulomatosis syndrome. This book is of value to biochemists, histochemists, geneticists, and researchers in the allied fields of lipidosis.
Download or read book Dictionary of Abbreviations in Medical Sciences written by Rolf Heister and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 451 pages. Available in PDF, EPUB and Kindle. Book excerpt: Not everyone is a friend of the manifold abbreviations that have by now beCome a part of the scientific language of medicine. In order to avoid misunderstanding these abbreviations, it is wise to refer to a reliable dic tionary, such as this one prepared by Heister. The abbreviation ED means, for instance, effective dose to the pharmacologist. However, it might also stand for emetic dose. Radiologists use the same abbreviation for erythema dose, and ED could also mean ethyl dichlorarsine. A com mon meaning of ECU is European currency unit, a meaning that might not be very often in scientific medical publications. ECU, however, also means environmental control unit or European Chiropractic Union. Hopefully, those making inventions and discoveries will make use of Heister's dictionary before creating new abbreviations when preparing manuscripts for scientific publications. It is a very worthwhile goal not to use the same abbreviation for several different terms, especially if it is already widely accepted to mean only one of them. It may be impossible, however, to achieve this goal in different scientific disciplines. Therefore, although it is wise for the abbreviations used in a publication to be defined, it is also very helpful for readers and writers to use a dictionary such as this one. The author deserves our warmest thanks since we know that compiling such a comprehensive dictionary is based upon incredibly hard effort.
Download or read book Textbook of Autoinflammation written by Philip J. Hashkes and published by Springer. This book was released on 2019-02-13 with total page 820 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, the first complete textbook on this novel field in Medicine, comprehensively covers the clinical presentation, pathogenesis, genetics, and latest management strategies for autoinflammatory disorders as well as the basic science of autoinflammation. Relevant concepts such as how translational science of genetics and immunology relates to the innate immune system and autoinflammation are covered. Descriptions of the monogenic and polygenic/complex diseases that fall under the umbrella of autoinflammatory diseases are provided. Further topics covered include the latest clinical and genetic diagnostic approaches, concepts on the relationship between autoinflammation and autoimmunity/immunodeficiency, the role of autoinflammation in cancer, treatments and management strategies for these diseases, and potential areas of future development. The Textbook of Autoinflammation systematically describes and reviews diagnostic and treatment options for autoinflammatory disorders as well as all aspects of the concept of autoinflammation, and represents a valuable resource for professionals in a variety of disciplines who encounter these patients or who study autoinflammation.
Download or read book Handbook of Drug Interactions written by Ashraf Mozayani and published by Springer Science & Business Media. This book was released on 2003-10-15 with total page 662 pages. Available in PDF, EPUB and Kindle. Book excerpt: A concise compilation of the known interactions of the most commonly prescribed drugs, as well as their interaction with nonprescription compounds. The agents covered include CNS drugs, cardiovascular drugs, antibiotics, and NSAIDs. For each class of drugs the authors review the pharmacology, pharmacodynamics, pharmacokinetics, chemistry, metabolism, epidemiological occurrences, adverse reactions, and significant interactions. Environmental and social pharmacological issues are also addressed in chapters on food and alcohol drug interactions, nicotine and tobacco, and anabolic doping agents. Comprehensive and easy-to-use, Handbook of Drug Interactions: A Clinical and Forensic Guide provides physicians with all the information needed to avoid prescribing drugs with undesirable interactions, and toxicologists with all the data necessary to interpret possible interactions between drugs found simultaneously in patient samples.
Download or read book Rare Diseases Epidemiology Update and Overview written by Manuel Posada de la Paz and published by Springer. This book was released on 2017-12-06 with total page 675 pages. Available in PDF, EPUB and Kindle. Book excerpt: The fields of rare diseases research and orphan products development continue to expand with more products in research and development status. In recent years, the role of the patient advocacy groups has evolved into a research partner with the academic research community and the bio-pharmaceutical industry. Unique approaches to research and development require epidemiological data not previously available to assist in protocol study design and patient recruitment for clinical trials required by regulatory agencies prior to approval for access by patents and practicing physicians.
