This book, the latest in the International Child Neurology Review series, is the first authoritative synthesis of the role of vitamin treatments in children with neurological disorders. It covers all the conditions seen in paediatric neurology that are treatable by vitamin supplementation and consists of up-to-date, concise reviews by an international group of experts in their specific fields. They cover: biotinidase deficiency; the role of vitamins in the developing nervous system, mitochondrial disorders and autism; homocysteinuria; conditions responsive to vitamin E or riboflavin; disorders of folic acid and vitamin B12 metabolism; folinic acid responsive seizures, and all aspects of pyridoxine-dependent and pyridoxine-responsive seizures. It is the first time that clinical and data research in this field has been drawn together in one source, making available previously unpublished material. This will be a unique data resource for anyone involved in the care of children with vitamin-responsive neurological disorders.
Provides the insights in neonatal neurology. This title describes from the discoveries in genetics through the advances in the diagnosis and management of neurologic disorders. It delivers clinical guidance you need to provide effective care for neonates with neurological conditions.
Table of Contents: 1. Clinical approach 2. Neurodiagnostic tools 3. Signs and symptoms 4. Specific conditions 5. Consults with other services 6. Emergencies 7. Pharmocopoeia.
This book is an accessible tool for practising and trainee paediatric neurologists. It aids diagnosis and patient management in child neurology, with a rational and efficient approach to assessment, investigation and treatment. It contains important reference material and reflects real life situations.
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
**Selected for Doody's Core Titles® 2024 in Neurology**Stay up to date with today's latest advances in diagnosis and management, as well as the many scientific and technological advances that are revolutionizing neonatal neurology, with the definitive text in the field. Volpe's Neurology of the Newborn, 7th Edition, shares the knowledge and expertise of world authority Dr. Joseph Volpe, who, along with Dr. Terrie E. Inder of Children's Hospital of Orange County and other distinguished editors, brings a wealth of insight to this classic text. Known for its clear, engaging writing style, vibrant, full-color illustrations, and authoritative information throughout, this reference is an indispensable resource for those who provide care for neonates with neurological conditions. - Provides clear, comprehensive coverage of neonatal neurology in Dr. Joseph Volpe's own legendary, readable manner—for a masterful, cohesive source of answers to any question that arises in your practice. - Brings the latest science into the clinical setting, with an emphasis on translating new knowledge to the infant's bedside. - Offers comprehensive updates with summary tables and text to reflect major advances in the study of hemorrhage; new insights into molecular genetics and molecular characterization of brain tumors; significant advances in drugs and the developing nervous system; and much more. - Includes new chapters on fetal neurology which address the importance of understanding and investigating the maternal-fetal origins of neonatal disease, as well as new chapters on neurodevelopmental follow-up, inflammation, and neurology in low-resource settings. - Contains more than 1,000 illustrations: clinical and pathological specimens, key experimental findings, schematics, algorithms, anatomical drawings, and neuroimaging throughout, as well as numerous tables and boxes that synthesize key points. - Any additional digital ancillary content may publish up to 6 weeks following the publication date.
Pediatric Neurology for the Oral Boards: A Case-Based Review is the first pediatric neurology review book written specifically for neurology residents preparing for the oral boards. The book presents sixty cases with discussions structured according to the neurology oral boards format: localization of neurologic findings; differential diagnosis and most likely diagnosis; diagnostic workup; and patient management. The cases will help readers lay a foundation of knowledge in pediatric neurology and develop an organized approach to clinical decision-making. An introduction explains in detail what to expect on the examination and gives helpful hints on preparing for and taking the exam.
Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.
Since 1975, Dr. Kenneth Swaiman's classic text has been the reference of choice for authoritative guidance in pediatric neurology, and the 6th Edition continues this tradition of excellence with thorough revisions that bring you fully up to date with all that's new in the field. Five new sections, 62 new chapters, 4 new editors, and a reconfigured format make this a comprehensive and clearly-written resource for the experienced clinician as well as the physician-in-training. - Nearly 3,000 line drawings, photographs, tables, and boxes highlight the text, clarify key concepts, and make it easy to find information quickly.
"This book fills an important and unique niche in pediatric neurology, and will be a frequently referenced textbook for all clinicians caring for children with epilepsy. It is well-organized and readable, and provides essential and up-to-date clinical data on these individually rare, but collectively more common, disorders." -Elaine Wirrell, MD, Neurology "Specialists in pediatric neurology, epilepsy, and biochemical genetics will find this volume to be indispensable for their daily practice. The organized approach to an incredibly complex set of disorders will also benefit trainees trying to make sense of the complex field and developing their own clinical approach, as knowledge about metabolic epilepsies continues to grow." -Carl E. Stafstrom, MD, PhD, Journal of Pediatric Epilepsy The continued explosion of information in neurogenetics and metabolism mandates increasing awareness of current diagnostic and therapeutic strategies in disease settings where prompt identification and intervention is crucial for a positive outcome. This thoroughly revised and greatly expanded new edition of the first book to bridge clinical epilepsy with inherited metabolic diseases brings together leading authorities to present state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. Inherited Metabolic Epilepsies, Second Edition contains 15 new chapters, and all existing chapters have been updated to reflect the latest science and clinical advances in this fast-moving field. New sections on basic and clinical science —covering energetics, metabolomics, pathways, the use of novel investigations like transcranial magnetic stimulation, neuropathology, and genomic technologies—supplement the disease-focused sections. Dedicated chapters focus on recently recognized disorders having novel therapeutic implications, pyridoxal-5-phosphate dependency, Menkes disease, and thiamine transporter deficiency. The book also includes new clinical applications of genomics and advanced generation gene sequencing in the diagnosis of inherited metabolic epilepsies. This readable, well-illustrated reference concludes with an updated clinical algorithm to aid physicians in screening and identifying suspected metabolic disorders and a collection of resources for families. Features Synthesizes cutting-edge diagnostic, clinical, and scientific information on epilepsy and inborn errors of metabolism Completely updated and expanded second edition contains the latest knowledge and 15 entirely new chapters Authored and edited by international experts in neurology, metabolic disorders, and genetics A readable and well-illustrated reference for clinicians Essential coverage of the new generation of genetic tests, which were not widely available or utilized when the first edition was published New chapter on inherited metabolic epilepsies in adult
