Download or read book Atlas of Neurometabolic Disorders written by Parvaneh Karimzadeh and published by Cambridge Scholars Publishing. This book was released on 2020-05-19 with total page 178 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurometabolic disorders are hereditary diseases of which neurological manifestations are a prominent sign. Because some neurometabolic diseases are treatable, early detection and early intervention in patients are essential. Children without early diagnosis and treatment suffer recurrent episodes of lethargy and loss of consciousness due to environmental stresses, and these attacks can lead to metabolic decompensating and often have fatal effects. Severe neurological consequences or regression in neurodevelopmental milestones are prominent signs in patients who survive. According to these findings, physicians—especially in the fields of pediatric neurology, pediatric endocrinology, as well as pediatrics and neurology more generally—need to be familiar with these important groups of disorders in order to diagnose and treat them successfully. This atlas of neurometabolic disorders can be used as a guide, and is recommended for all pediatric specialists wishing to provide early diagnoses of pediatric patients.

Download or read book Atlas of Metabolic Diseases Second edition written by William L Nyhan and published by CRC Press. This book was released on 2005-08-26 with total page 801 pages. Available in PDF, EPUB and Kindle. Book excerpt: In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The second edition of this highly regarded book, authored by three of the foremost authorities in pediatric metabolic medicine, fulfils this need by providing an invaluable insight into the problems associated with metabolic diseases. For ease of reference, Atlas of Metabolic Disease is divided into sections of related disorders, such as disorders of amino acid metabolism, lipid storage disorders and mitochondrial diseases, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within sections each chapter deals with an individual disease, starting with a useful summary of major phenotypic expression and including clear and helpful biochemical pathways, identifying for the reader exactly where the defect is occurring. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.

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 Atlas of Metabolic Diseases Second edition written by William Nyhan and published by CRC Press. This book was released on 2005-08-26 with total page 801 pages. Available in PDF, EPUB and Kindle. Book excerpt: In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The second edition of this highly regarded book, auth

Download or read book Text Atlas of Skeletal Age Determination written by Ernesto Tomei and published by John Wiley & Sons. This book was released on 2013-11-19 with total page 340 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first complete textbook and atlas of the vitally important technique of bone age assessment utilizing MRI for children's hand and wrist This latest volume in the growing Wiley Current Clinical Imaging series is a must-have resource that collects, in a single volume, all that is currently known and applicable about the use of magnetic resonance imaging (MRI) for the assessment of bone age. Presented in two parts, Text-Atlas of Skeletal Age Determination: MRI of the Hand and Wrist in Children first focuses on the anatomic, social, and legal aspects of bone age, providing a concise overview of the use of bone age determination in medical, legal, and social systems.??It then covers the clinical use and application of MRI in assessing bone age. The book offers complete chapter coverage on endocrinology, puberty, and disorders of pubertal development; bone marrow maturation in healthy and diseased states; growth failure and pediatric inflammatory bowel disease; skeletal findings in neurometabolic disease, genetic disease, and pediatric oncology patients; and much more. Text-Atlas of Skeletal Age Determination provides: A comprehensive review of the medical, legal, and social aspects of bone age assessment An in-depth discussion of MRI as an alternative to the traditional ionizing radiation-based radiographic techniques for the assessment of bone age Complete guidelines for clinical application of these MRI-based techniques "Recipes" for replicating these techniques and applications for diverse patient populations Cutting-edge information prepared and presented by an international team of experts A superb collection of beautifully reproduced, high-quality images This is an ideal book for radiologists, pediatricians, family physicians, endocrinologists, and sports medicine physicians interested in skeletal development and bone age assessment.

Download or read book Atlas of Inherited Metabolic Diseases written by William L Nyhan and published by CRC Press. This book was released on 2020-07-14 with total page 871 pages. Available in PDF, EPUB and Kindle. Book excerpt: In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis. Key Features • Fully updated to incorporate all new developments in the field • Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others • Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management • Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability The fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide.

Download or read book Atlas of Inherited Metabolic Diseases 3E written by William Nyhan and published by CRC Press. This book was released on 2011-12-30 with total page 889 pages. Available in PDF, EPUB and Kindle. Book excerpt: In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The third edition of this highly regarded book, autho

Download or read book Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease written by Roger N. Rosenberg and published by Elsevier. This book was released on 2014-10-28 with total page 1465 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations

Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.

Download or read book Atlas of Procedures in Neonatology written by Mhairi G. MacDonald and published by Lippincott Williams & Wilkins. This book was released on 2012-10-08 with total page 449 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Atlas of Procedures in Neonatology, Fifth Edition, provides detailed, step-by-step instructions on procedures performed in the neonatal intensive care nursery. In an easy-to-follow outline format, with more than 450 drawings and clinical photographs, the book presents clear, current information on indications, preparation, technique, precautions, and how to avoid potential complications. New for this edition: New chapters covering: Brain and Whole Body Coolling; Bubble CPAP; Educational Principles of Simulation Based Procedure Training to help you stay updated on the latest technology and information Access to free online companion website that includes fully searchable text, image bank and videos so you can access the content anytime, anywhere Video collection has been expanded to include: lumbar puncture, intraosseous infusion, bubble CPAP and pericardiocentesis for both commonly performed procedures and vital emergency procedures

Download or read book Gass Atlas of Macular Diseases written by Anita Agarwal and published by Elsevier Health Sciences. This book was released on 2011-12-23 with total page 1357 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Fifth Edition of Gass' Atlas of Macular Diseases, by Dr. Anita Agarwal, provides expert diagnostic guidance on macular disorders and quickly brings you up to date on this evolving specialty. Using a case-based approach, it richly depicts a full range of retina and macular diseases, including new infectious, degenerative, and dystrophic conditions. Take advantage of the latest imaging technologies to identify common and rare disorders, and confirm difficult diagnoses with the aid of more than 5,500 high-quality images. Printed in full color for the first time, this edition is accessible online at www.expertconsult.com. "... appropriate for highly ambitious residents, retina fellows and specialists, and general ophthalmologists who are looking for an excellent reference book with a proud lineage and impeccable reputation." Reviewed by ESCRS EuroTimes (European Society of Cataract and Refractive Surgery), Apr 2015 Rely on the same unique, richly illustrated case-descriptive format-encompassing history, clinical examination, and follow-up-that popularized the original book by the late Dr. Donald Gass, the famed ophthalmologist whose clinical expertise set new standards in macular diagnosis. Get expert diagnostic guidance under the new authorship of Dr. Anita Agarwal, a protégé of Dr. Gass who has compiled the ultimate collection of images and hard-to-find case studies. Evaluate macular diseases using the latest techniques including fluorescein angiography, optical coherence tomography (OCT), indocyanine green (ICG), and fundus autofluorescence. Visualize the conditions you're likely to see in practice and confirm your diagnoses by comparing your clinical findings to more than 5,500 images and illustrations (over 3,500 in full color). Search the complete text online, download the illustrations and view a bonus stereoscopic image gallery at www.expertconsult.com.

Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.

Download or read book MacDonald s Atlas of Procedures in Neonatology written by Jayashree Ramasethu and published by Lippincott Williams & Wilkins. This book was released on 2019-10-16 with total page 1303 pages. Available in PDF, EPUB and Kindle. Book excerpt: Detailed, step-by-step instructions and abundant full-color illustrations make MacDonald’s Atlas of Procedures in Neonatology, Sixth Edition, an indispensable resource in the neonatal intensive care nursery. This unique reference uses a practical outline format to present clear, easy-to-follow information on indications, preparation, technique, precautions, and how to avoid potential complications. New chapters, new procedural content, and new videos bring you fully up to date with current practice in the NICU.

Download or read book Atlas of Epilepsies written by S.R. Benbadis and published by Springer Science & Business Media. This book was released on 2010-09-20 with total page 1966 pages. Available in PDF, EPUB and Kindle. Book excerpt: Atlas of Epilepsies is a landmark, all-encompassing, illustrated reference work and hands-on guide to the diagnosis, management and treatment of epilepsy in all its forms and across all age groups. The premier text in the field with over one thousand images, the Atlas’s highly illustrative approach tackles the difficult subject of epileptic seizures and epileptic syndromes, accompanied by sequential photographs of each management step. Intraoperative photographs are accompanied by detailed figure legends describing nuances, subtleties, and the thought processes involved in each step, providing a fuller understanding of each procedure. The Atlas draws on the expertise of over 300 internationally-renowned experts, and is liberally interspersed with clinical insights and personal vignettes that offer helpful tips, technical advice and critical knowledge to the clinician and scholar. The thorough and complete table of contents includes dedicated sections or chapters on important topics such as neonatal and pediatric seizures; imitators of epilepsy; EEG and neuroimaging; psychiatric and quality of life aspects of epilepsy; and a complete guide to treatment options including current and up-to-date chapters on pharmaceuticals, surgical procedures, and additional and alternative treatments. No other publication addresses epilepsies as thoroughly and completely as the Atlas of Epilepsies. Exhaustive and illustrative, convenient and current, this reference is sure to be the premier text on epilepsy for many years to come.

Download or read book Frontiers in Pediatric Neurology written by TM Ananda Kesavan and published by JP Medical Ltd. This book was released on 2017-01-31 with total page 278 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is a complete guide to paediatric neurology for clinicians. Beginning with an overview of potential pitfalls in neurological examination of children, the following chapters discuss the diagnosis and management of numerous neurological disorders that may be encountered in daily paediatric practice. Topics covered include cerebral palsy, Guillan-Barré Syndrome, febrile seizures, muscle disorders, cerebral edema, epilepsy, neurogenic bladder dysfunction and much more. Each section is presented with an emphasis on the importance of accurate clinical examination, and covers all the latest developments and management strategies. The comprehensive text is highly illustrated with clinical images and diagrams to enhance learning. Key Points Comprehensive guide to paediatric neurology Covers diagnosis and management of numerous disorders with emphasis on importance of accurate clinical examination Includes discussion on potential pitfalls in neurological examination of children Highly illustrated with clinical photographs and diagrams

Download or read book A Clinical Guide to Inherited Metabolic Diseases written by Joe T. R. Clarke and published by Cambridge University Press. This book was released on 2005-12-08 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments.

Download or read book Gass Atlas of Macular Diseases E Book written by Anita Agarwal and published by Elsevier Health Sciences. This book was released on 2011-12-23 with total page 1357 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Fifth Edition of Gass' Atlas of Macular Diseases, by Dr. Anita Agarwal, provides expert diagnostic guidance on macular disorders and quickly brings you up to date on this evolving specialty. Using a case-based approach, it richly depicts a full range of retina and macular diseases, including new infectious, degenerative, and dystrophic conditions. Take advantage of the latest imaging technologies to identify common and rare disorders, and confirm difficult diagnoses with the aid of more than 5,500 high-quality images. - Rely on the same unique, richly illustrated case-descriptive format–encompassing history, clinical examination, and follow-up–that popularized the original book by the late Dr. Donald Gass, the famed ophthalmologist whose clinical expertise set new standards in macular diagnosis. - Get expert diagnostic guidance under the new authorship of Dr. Anita Agarwal, a protégé of Dr. Gass who has compiled the ultimate collection of images and hard-to-find case studies. - Evaluate macular diseases using the latest techniques including fluorescein angiography, optical coherence tomography (OCT), indocyanine green (ICG), and fundus autofluorescence. - Visualize the conditions you're likely to see in practice and confirm your diagnoses by comparing your clinical findings to more than 5,500 images and illustrations (over 3,500 in full color). - Search the complete text online, download the illustrations and view a bonus stereoscopic image gallery at www.expertconsult.com.