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Inherited Metabolic Epilepsies
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 the leading authorities working in this area to present state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. The book begins with general principles for diagnosis and targeted intervention including screening protocols, laboratory testing, seizure patterns and EEG findings, imaging, new technologies, and the ketogenic diet. The next two sections are devoted to the cohort of specific small molecule and large molecule disorders 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 while considering an inherited metabolic disorder as the explanation for a patient with epilepsy.
Management of Genetic Syndromes
The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagn...
Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening: An Update, An Issue of Clinics in Perinatology
Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.
X & Y Chromosomal Variations
This is the first book on X and Y chromosomal disorders to address these common but rarely diagnosed conditions. This book seeks to present the latest in research and clinical care addressing neuroimaging, the interaction between hormones, brain development, and neurodevelopmental progression. This book will primarily focus on 47, XXY (Klinefelter syndrome, or KS), 47, XYY (Jacobs' syndrome), and 47, XXX (Triple X). More variant disorders such as 48, XXXX, 48, XXXY and 49, XXXXY will be discussed. Topics of interest include neurological functioning, neuroimaging, social language, and the evolving perspectives of these XY chromosomal disorders. The effects of testosterone supplementation in males with 47, XXY will also be examined.
Neurobiology of Disease
The second edition of Neurobiology of Disease includes nearly 200 articles surveying all major disorders of the nervous system in both adults and children, focusing on relevant diagnosis and treatments from the perspective of cutting edge clinical and basic neurobiological research. Akin to an encyclopedia of every neurologic disorder, this comprehensive work is ideal for graduate and medical school students, residents, and candidates preparing for their board certification examinations. Each chapter is illustrated with detailed figures, supplemented with descriptive and diagnostic tables, and thoroughly referenced for further investigations. The book's editors, Michael V. Johnston, Harold P...
Cognitive and Behavioral Abnormalities of Pediatric Diseases
This book provides a detailed account of intellectual, other neuropsychological and behavioral manifestations of general pediatric diseases. The conditions discussed include the whole range of pediatric diseases - genetic syndromes, other congenital conditions, metabolic, endocrine, gastrointestinal, infectious, immunologic, toxic, trauma, and neoplastic, as well as sensory disabilities including deafness and blindness. Although the book is not intended to discuss cognitive and behavioral manifestations of conditions usually considered to be primary neurological disease, some of those, including cerebral palsy, muscular dystrophy, myotonic dystrophy and epilepsy, are included. Where possible...
Bioimaging in Neurodegeneration
Bioimaging is in the forefront of medicine for the diagnosis and helps to predict the progression of AD via mild cognitive treatment of neurodegenerative disease. Conventional magnetic impairment (MCI) studies. resonance imaging (MRI) uses interactive external magnetic fields Novel neuroimaging technologies, such as neuromolecular and resonant frequencies of protons from water molecules. imaging (NMI) with a series of newly developed BRODERICK ® However, newer sequences, such as magnetization-prepared rapid PROBE sensors, directly image neurotransmitters, precursors, acquisition gradient echo (MPRAGE), are able to seek higher and metabolites in vivo, in real time and within seconds, at sepa...
Swaiman's Pediatric Neurology - E-Book
For fifty years, experienced clinicians and physicians in training have relied on Swaiman's cornerstone text as their #1 source for authoritative guidance in pediatric neurology. Swaiman's Pediatric Neurology: Principles and Practice, 7th Edition, continues this tradition of excellence under the expert editorial direction of Drs. Stephen Ashwal and Phillip L. Pearl, along with a team of key leaders in the field who serve as associate and section editors in their areas of expertise. Thorough revisions—including new chapters, new videos, new editors, and expanded content—bring you up to date with this dynamic field. - Contains new sections on global child neurology and environment and brai...
Cassidy and Allanson's Management of Genetic Syndromes
MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routin...
Sleep in Childhood Neurological Disorders
Sleep in Childhood Neurological Disorders addresses the myriad sleep-wake issues associated with neurological disturbances from the newborn period through adolescence. The editors and contributing authors are internationally recognized authorities who cover everything from sleep and ADHD, headaches, restless leg syndrome, parasomnias, hypersomnias, autism, brain tumors, epilepsy, traumatic brain injury, and other primary disorders to sleep co-morbidities, assessment, testing, interventions, pharmacology and more. The first book devoted to the growing field of pediatric neurosomnology, Sleep in Childhood Neurological Disorders is an invaluable text for clinicians looking for current information and practical guidance to successfully manage their pediatric sleep patients. Sleep in Childhood Neurological Disorders features Dedicated focus on neurologically-based sleep disorders in children Diagnostic tables, key points, clinical pearls, and treatment algorithms throughout to enhance clinical utility Directions for "Future Research" in each chapter highlight promising studies and new therapies Broad-based coverage of the full range of common sleep disorders and co-morbidities "
