Download or read book Neurology of Hereditary Metabolic Diseases of Children Third Edition written by Gilles Lyon and published by McGraw Hill Professional. This book was released on 2010-05-16 with total page 553 pages. Available in PDF, EPUB and Kindle. Book excerpt: The expert, up-to-date guidance you need to identify, understand, and treat neurogenetic disorders in children Written in a readily-accessible, highly-readable style, this unique reference offers a sound starting point and clinical step-by-step approach to treating the complex and often baffling neurogenetic diseases found in children. Conveniently organized by age groups from prenatal diagnosis to neonate to childhood, each chapter begins by describing symptoms (similar to the way a patient would present), and then guides you through confirming the diagnosis and choosing the appropriate course of therapy. Completely updated to reflect the significant advances made following the discovery of the DNA sequence on the human genome, the Third Edition of Neurology of Hereditary Metabolic Diseases of Children clarifies the complicated genetics and biochemistry of these illnesses and will prove to be invaluable to the non-specialist and specialist alike. New to the Third Edition: Tables categorizing diseases by mechanisms Treatment for disorders that previously had no known treatment options Thorough discussion of new molecular, biochemical, and brain imaging tests - and how to select the one most likely to reveal a particular disease Case examples with clinical pearls Web sites and contact information for patient support groups

Download or read book Neurology of Hereditary Metabolic Diseases of Children written by Gilles Lyon and published by McGraw-Hill Professional Publishing. This book was released on 1996 with total page 414 pages. Available in PDF, EPUB and Kindle. Book excerpt: From the author of Principles of Neurology, this guide is organized by age group, from the neonate to late childhood, and presents systematic, clinical methodology to the diagnosis and management of this difficult and often baffling group of disorders. Raymond Adams explains the distinctions between hereditary metabolic diseases and other diseases of symptomatic treatment, enzyme replacement therapy and guidelines for the prevention of disease.

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 Pediatric Neurology written by Kenneth F. Swaiman and published by Elsevier Health Sciences. This book was released on 2006-01-01 with total page 2535 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Gold Standard in clinical child neurology presents the entire specialty in the most comprehensive, authoritative, and clearly written fashion. Its clinical focus, along with relevant science, throughout is directed at both the experienced clinician and the physician in training. New editor, Dr. Ferriero brings expertise in neonatal neurology to the Fourth Edition. New chapters: Pathophysiology of Hypoxic Ischemic Encephalopathy, Congenital Disorders of Glycosylation, Pediatric Neurotransmitter Diseases, Neurophysiology of Epilepsy, Genetics of Epilepsy, Pediatric Neurorehabilitation Medicine, Neuropsychopharmacology, Pain and Palliative Care Management, Ethical Issues in Child Neurology

Download or read book Pediatric Neurology written by Kenneth F. Swaiman and published by . This book was released on 1999 with total page 864 pages. Available in PDF, EPUB and Kindle. Book excerpt: The third edition of this 2-volume reference has beenupdated, expanded and reorganized to include the latest in treatment of epilepsy, seizures and drug therapies, coma, head injuries, as well as genetics and their related metabolic conditions. With detailed coverage from birth to adolescents, content is accessible from four directions: history and physical exams; lab tests; signs and symptoms; and disease. New coverage includes the latest imaging technologies, guidelines for evaluation, DSM-IV, and a chapter on how to best utilise the Internet and other information service providers. * Provides comprehensive and authoritative coverage from birth through adolescence, in a leading two-volume set. * Includes a section on the important subspecialty of neonatal neurology for the unique problems of gestation and birth and the immature nervous system. * Includes twice as many photographs and illustrations as any comparable resource. * Features a strong art program which is invaluable in bridging the gap between comprehension and application. * Features greatly expanded content to accommodate new material in genetics, including those associated with amino acid, lipid storage and energy differential. * Includes the explosion of new information that affects the understanding of metabolic conditions, particularly mitochondrial diseases. * Presents a much broader view of epilepsy with multiple chapters, including a thorough overview, comprehensive coverage of seizures, the role of surgery and new medications. * Introduces expanded information on higher cortical function throughout the book. * Features a new section on perinatal-acquired and congenital disorders. * Provides increased material on coma and head injuries. * Includes the latest imaging technologies, guidelines for evaluation, DSM-IV, and a section on how to best utilize the Internet and other information service providers. * Incorporates up to 175 new photos and line drawings. Content has been greatly expanded to accommodate new material in genetics and the explosion of new information that affects the understanding of metabolic conditions. Provides the reader with a much better understanding of metabolic diseases including those associated with amino acid, lipid storage and energy differential. Presents a much broader view of Epilepsy. Coverage has been broken into multiple chapters including a thorough background/overview, comprehensive coverage of seizures, the role of surgery and new medications. Expanded information on higher cortical function is introduced throughout the book as appropriate. New section on perinatal acquired and congenital disorders. Increased material on coma and head injuries. New coverage includes the latest imaging technologies, guidelines for evaluation, DSM-IV, and a section on how to best utilize the Internet and other information service providers. Up to 175 new halftones and line drawings - some additions - some replacements.

Download or read book IAP Textbook of Pediatrics written by A Parthasarathy and published by JP Medical Ltd. This book was released on 2016-04-30 with total page 1409 pages. Available in PDF, EPUB and Kindle. Book excerpt: IAP Textbook of Pediatrics is the latest edition of this extensive textbook, which highlights the substantial advances in preventive and therapeutic care in paediatrics since the last edition. This edition has been thoroughly revised and reorganised into a single volume, enhanced by nearly 1200 full colour images and illustrations which allow for quick and easy reference. New content and topics in this edition include new IAP growth charts, human milk banking, and survival of childhood cancer.

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 Pediatric Neurology written by and published by . This book was released on 1999 with total page 1494 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Textbook of Pediatric Neurology written by Gerald S. Golden and published by Springer. This book was released on 1987-02-28 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurological signs or symptoms are present in approximately 20% of all chil dren admitted to the hospital. These may be the reason for admission or may be part of preexisting and often unrelated problems. In ambulatory practice, acute neurological disease is not seen as frequently, but issues relating to normal and abnormal development are constantly being faced. For these reasons, familiarity with the progress of normal development and factors interfering with it, as well as knowledge of the major acute and chronic disorders of the nervous and neu romuscular systems, is important for any practitioner, specialist, or generalist who cares for children. The pathophysiology of neurological disorders in childhood is based on the same principles of the organization, structure, and function of the nervous sys tem as apply to adults. Two pitfalls are present for the student, however. First, the abnormalities are superimposed on a changing, developing brain, not a rather static, mature organ. The manifestations of the disease may vary, there fore, in seemingly unpredictable fashion depending on the rate of progression of the disorder and the rate and adequacy of the ongoing developmental changes in the nervous system. The second problem is the large number of unfa miliar conditions, many of which have no counterpart in adult neurology or medicine. These include developmental malformations, disorders specific to the neonatal period, and many hereditary and metabolic diseases.

Download or read book Inherited Metabolic Epilepsies written by Phillip L. Pearl, MD and published by Demos Medical Publishing. This book was released on 2012-10-04 with total page 377 pages. Available in PDF, EPUB and Kindle. Book excerpt: The explosion of information in neurogenetics and metabolism mandates increasing awareness of appropriate diagnostic and therapeutic strategies in the setting of certain epilepsies, especially those of very early onset. There are over 200 inherited disorders that are associated with seizures and prompt identification and intervention is crucial for a positive outcome. This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. Inherited Metabolic Epilepsies opens with a section on general principles for diagnosis and targeted intervention including screening protocols, laboratory testing, neuroimaging, seizure patterns and EEG findings, new technologies, and the ketogenic diet in metabolic epilepsies. The next two sections are devoted to the cohort of specific small molecule disorders (aminoacidopathies, organic acidopathies, mitochondrial disorders, urea cycle disorders, neurotransmitter disorders, and glucose-related disorders) and large molecule disorders (lysomal storage disorders, peroxisomal diseases, glycosylation defects, and leukodystrophies) that are treatable yet can be so vexing to clinicians and investigators. The book concludes with a clinical algorithm designed to be a resource for the physician in search of direction when considering an inherited metabolic disorder as the explanation for a patient with epilepsy. Inherited Metabolic Epilepsies Key Features: Presents the latest scientific thinking and clinical wisdom for a poorly understood group of disorders that have devastating consequences if unrecognized or not promptly treated Expert authorship from both the genetic-metabolic and epilepsy communities provides state-of-the-art guidance for understanding and managing these disorders A readable text for clinicians highlighting the relation between metabolic errors and epilepsy Concludes with a practical algorithm for evaluating a patient with a possible metabolic epilepsy

Download or read book Textbook of Pediatric Neurology written by Gerald J. Golden and published by Springer. This book was released on 2012-12-12 with total page 346 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurological signs or symptoms are present in approximately 20% of all chil dren admitted to the hospital. These may be the reason for admission or may be part of preexisting and often unrelated problems. In ambulatory practice, acute neurological disease is not seen as frequently, but issues relating to normal and abnormal development are constantly being faced. For these reasons, familiarity with the progress of normal development and factors interfering with it, as well as knowledge of the major acute and chronic disorders of the nervous and neu romuscular systems, is important for any practitioner, specialist, or generalist who cares for children. The pathophysiology of neurological disorders in childhood is based on the same principles of the organization, structure, and function of the nervous sys tem as apply to adults. Two pitfalls are present for the student, however. First, the abnormalities are superimposed on a changing, developing brain, not a rather static, mature organ. The manifestations of the disease may vary, there fore, in seemingly unpredictable fashion depending on the rate of progression of the disorder and the rate and adequacy of the ongoing developmental changes in the nervous system. The second problem is the large number of unfa miliar conditions, many of which have no counterpart in adult neurology or medicine. These include developmental malformations, disorders specific to the neonatal period, and many hereditary and metabolic diseases.

Download or read book IAP Textbook of Pediatric Neurology written by Anoop Verma and published by Jaypee Brothers Medical Publishers. This book was released on 2019-05-31 with total page 606 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Diseases of the Brain Head and Neck Spine 2020 2023 written by Juerg Hodler and published by Springer Nature. This book was released on 2020-02-14 with total page 252 pages. Available in PDF, EPUB and Kindle. Book excerpt: This open access book offers an essential overview of brain, head and neck, and spine imaging. Over the last few years, there have been considerable advances in this area, driven by both clinical and technological developments. Written by leading international experts and teachers, the chapters are disease-oriented and cover all relevant imaging modalities, with a focus on magnetic resonance imaging and computed tomography. The book also includes a synopsis of pediatric imaging. IDKD books are rewritten (not merely updated) every four years, which means they offer a comprehensive review of the state-of-the-art in imaging. The book is clearly structured and features learning objectives, abstracts, subheadings, tables and take-home points, supported by design elements to help readers navigate the text. It will particularly appeal to general radiologists, radiology residents, and interventional radiologists who want to update their diagnostic expertise, as well as clinicians from other specialties who are interested in imaging for their patient care.

Download or read book Hankey s Clinical Neurology Second Edition written by Philip B. Gorelick and published by CRC Press. This book was released on 2014-01-15 with total page 978 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since the publication of the highly successful first edition, there has been an explosion of rigorous scientific evidence for interventions in clinical neurology. Hankey's Clinical Neurology, Second Edition is fully updated to accommodate the latest advancements in clinical neuroscience. Designed for students of clinical neurology, neurologists-in-training, and practicing neurologists who need ready access to a comprehensive, evidence-based guide to new and notable neurologic disorders, the Second Edition: Contains a chapter solely dedicated to sleep disorders Introduces a section on neuro-ophthalmology within the cranial neuropathies chapter Reflects a more global approach, as each chapter is written by an international expert in the field Delivers expanded coverage of degenerative diseases of the nervous system, with sections on dementias, Parkinson’s disease and Parkinsonian syndromes, and hereditary ataxias Includes 440+ all-new, high-quality illustrations ranging from anatomical drawings to clinical photographs and pathology specimens, with many images taken with permission from the authors’ own patients The structured text integrates presentation, pathology, radiology, diagnosis, and treatment options to provide a practical, patient-oriented examination of clinical neurology.

Download or read book Neurology Board Review Pearls of Wisdom Third Edition written by Michael Labanowski and published by McGraw-Hill Education / Medical. This book was released on 2006 with total page 324 pages. Available in PDF, EPUB and Kindle. Book excerpt: Publisher's Note: Products purchased from Third Party sellers are not guaranteed by the publisher for quality, authenticity, or access to any online entitlements included with the product. Why waste time guessing at what you need to know for the neurology board exam? Maximize your exam preparation time with this quick-hit question and answer review. The unique question and single-answer format eliminates the guesswork associated with traditional multiple-choice Q&A reviews and reinforces only the correct answers you'll need to know on exam day. Emphasis is placed on distilling key facts and clinical pearls essential for exam success. Great for certification and re-certification, this high-yield review for the boards is the perfect compliment to larger texts for intense, streamlined review in the days and weeks before your exam.

Download or read book Anesthesia for Genetic Metabolic and Dysmorphic Syndromes of Childhood written by Victor C. Baum and published by Lippincott Williams & Wilkins. This book was released on 2007 with total page 444 pages. Available in PDF, EPUB and Kindle. Book excerpt: Thoroughly updated for its Second Edition, this reference is the only single-source guide to the anesthetic management of children and adults with genetic, metabolic, and dysmorphic syndromes. In a format designed for quick, easy look-up, this edition provides an encyclopedic review of well over 500 distinct syndromes, with up-to-date information, complete current bibliographies, and over 140 clinical photographs. Syndromes and synonyms are listed alphabetically and synonyms are cross-referenced. Each syndrome is presented in an easy-to-follow format: name, synonym(s), common and uncommon manifestations in each organ system, and anesthetic considerations. If a syndrome has no anesthetic implications, this is also indicated.

Download or read book Introductory Neurology Third Edition written by James G. McLeod and published by John Wiley & Sons. This book was released on 2013-12-06 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Introductory Neurology provides a concise introduction to neurology for undergraduate and postgraduate medical students. This book is designed to relate the basic sciences, particularly physiology and anatomy, to the examination of the nervous system and to neurological diseases. This textbook combines basic neuroscience with clinical neurology and is suitable for preclinical and clinical medical students. The third edition of this book is completely revised and updated.