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 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 Pediatric Neurology Part III written by and published by Newnes. This book was released on 2013-04-24 with total page 731 pages. Available in PDF, EPUB and Kindle. Book excerpt: The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology – not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults. Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research. Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed – brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. - A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology - International list of contributors including the leading workers in the field - Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care

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 Part III written by Marie-Cécile Nassogne and published by Elsevier Inc. Chapters. This book was released on 2013-04-24 with total page 40 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurological symptoms are very frequent in inborn errors of metabolism. This chapter presents a general approach to investigate inborn errors of metabolism in chronic neurological conditions. A diagnostic work-up has been designed to evaluate progressive neurological conditions with motor, cognitive, and/or behavioral signs in early infancy, late infancy to early childhood, and late childhood to adolescence. Inborn errors of metabolism associated with peripheral neuropathies, microcephaly, or macrocephaly are also reviewed.

Download or read book Textbook of Pediatric Neurology written by Gerald J. Golden and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 323 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 Pediatric Neurology Part III written by H.A. Jinnah and published by Elsevier Inc. Chapters. This book was released on 2013-04-24 with total page 29 pages. Available in PDF, EPUB and Kindle. Book excerpt: The purines are a group of molecules used by all cells for many vital biochemical processes including energy-requiring enzymatic reactions, cofactor-requiring reactions, synthesis of DNA or RNA, signaling pathways within and between cells, and other processes. Defects in some of the enzymes of purine metabolism are known to be associated with specific clinical disorders, and neurological problems may be a presenting sign or the predominant clinical problem for several of them. This chapter describes three disorders for which the clinical features and metabolic basis are well characterized. Deficiency of adenylosuccinate-lyase (ADSL) causes psychomotor retardation, epilepsy, and autistic features. Lesch–Nyhan disease is caused by deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) and is characterized by hyperuricemia, motor and cognitive disability, and self-injurious behavior. Deficiency of myoadenylate deaminase (mAMPD) is associated with myopathic features. In addition to these disorders, several other disorders are briefly summarized. These include defects of phosphoribosylpyrophosphate synthase, adenosine deaminase (ADA), purine nucleoside phosphorylase (PND), deoxyguanosine kinase (dGK), or IMP dehydrogenase (IMPDH). Each of these disorders provides an unusual window on the unique importance of purine metabolism for function of different parts of the nervous system.

Download or read book Pediatric Neurology Part III written by Joerg Klepper and published by Elsevier Inc. Chapters. This book was released on 2013-04-24 with total page 20 pages. Available in PDF, EPUB and Kindle. Book excerpt: Glucide metabolism comprises pathways for transport, intermediate metabolism, utilization, and storage of carbohydrates. Defects affect multiple organs and present as systemic diseases. Neurological symptoms result from hypoglycemia, lactic acidosis, or inadequate storage of complex glucide molecules in neurological tissues. In glycogen storage disorders hypoglycemia indicates hepatic involvement, weakness and muscle cramps muscle involvement. Hypoglycemia is also the leading neurological symptom in disorders of gluconeogenesis. Disorders of galactose and fructose metabolism are rare, detectable by neonatal screening, and manifest following dietary intake of these sugars. Rare defects within the pentose metabolism constitute a new area of inborn metabolic disorders and may present with neurological symptoms. Treatment of these disorders involves the avoidance of fasting, dietary treatment eliminating specific carbohydrates, and enzyme replacement therapy in individual glycogen storage diseases.GLUT1 deficiency syndrome, a specific disorder of glucose transport into brain, results in global developmental delay, early-onset epilepsy, and a complex movement disorder. Treatment with a high-fat, low-carbohydrate ketogenic diet provides ketones as an alternative fuel to the brain and restores brain energy metabolism. Recently paroxysmal exertion-induced dyskinesia and stomatin-deficient cryohydrocytosis have been identified as an allelic disorder to GLUT1 deficiency equally responding to a ketogenic diet.

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 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 Pediatric Neurology Part III written by Pierre Landrieu and published by Elsevier Inc. Chapters. This book was released on 2013-04-24 with total page 55 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hereditary neuropathies (HN) are categorized according to clinical presentation, pathogenic mechanism based on electrophysiology, genetic transmission, age of occurrence, and, in selected cases, pathological findings. The combination of these parameters frequently orients towards specific genetic disorders. Ruling out a neuropathy secondary to a generalized metabolic disorder remains the first pediatric concern. Primary, motor-sensory are the most frequent HN and are dominated by demyelinating AD forms (CMT1). Others are demyelinating AR forms, axonal AD/AR forms, and forms with “intermediate” electrophysiological phenotype. Pure motor HN represent40 genes with various biological functions have been found responsible for HN. Many are responsible for various phenotypes, including some without the polyneuropathic trait: for the pediatric neurologist, phenotype/genotype correlations constitute a permanent bidirectional exercise.

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 Potter s Pathology of the Fetus Infant and Child written by Edith Louise Potter and published by Mosby. This book was released on 2007 with total page 1074 pages. Available in PDF, EPUB and Kindle. Book excerpt: This comprehensive reference addresses all aspects of fetal and neonatal pathology, including complicated pregnancies, multiple pregnancies, abortion, placental pathology, and disorders affecting the full-term neonate. A consistent organization allows for quick access to specific guidance, and nearly 2,500 illustrations - 2,350 in full color - depict conditions and abnormalities as they present in practice, facilitating diagnosis. An Image Bank on CD-ROM - new to this edition - features all of the illustrations from the 2-volume set, downloadable for presentations. Offers comprehensive coverage of all common and rare embryonic, fetal, and infant disorders in one source. Correlates clinical, pathologic, and genetic findings for each systemic disease. Emphasizes the genetic and molecular basis of birth defects. Features nearly 2,500 illustrations - 2,350 in full color - which depict each abnormality or condition as they present in practice. Presents practical information on autopsy techniques and protocols. Provides the latest guidance on molecular pathology, immunohistochemistry, DNA technology, and more. Offers an expanded discussion of developmental biology related to the pathogenesis of birth defects. Features user-friendly summary tables and diagnostic flow charts, making information quick and easy to find. Includes a CD-ROM featuring all of the illustrations from the 2-volume set.

Download or read book Vitamin Responsive Conditions in Paediatric Neurology written by International Child Neurology Association and published by Cambridge University Press. This book was released on 2001-01-16 with total page 194 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Handbook of Neurodevelopmental and Genetic Disorders in Children 2 e written by Sam Goldstein and published by Guilford Press. This book was released on 2010-10-19 with total page 616 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recognized as the definitive reference in the field, this book addresses a broad range of biologically based disorders that affect children's learning and development. Leading authorities review the genetics of each disorder; its course and outcome; associated developmental, cognitive, and psychosocial challenges; and what clinicians and educators need to know about effective approaches to assessment and intervention. Coverage encompasses more frequently diagnosed learning and behavior problems with a genetic component as well as numerous lower-incidence neurodevelopmental disabilities. Illustrations include 12 color plates.

Download or read book Brain Disorders in Critical Illness written by Robert D. Stevens and published by Cambridge University Press. This book was released on 2013-09-19 with total page 457 pages. Available in PDF, EPUB and Kindle. Book excerpt: Brain dysfunction is a major clinical problem in intensive care, with potentially debilitating long-term consequences for post-ICU patients of any age. The resulting extended length of stay in the ICU and post-discharge cognitive dysfunction are now recognized as major healthcare burdens. This comprehensive clinical text provides intensivists and neurologists with a practical review of the pathophysiology of brain dysfunction and a thorough account of the diagnostic and therapeutic options available. Initial sections review the epidemiology, outcomes, relevant behavioral neurology and biological mechanisms of brain dysfunction. Subsequent sections evaluate the available diagnostic options and preventative and therapeutic interventions, with a final section on clinical encephalopathy syndromes encountered in the ICU. Each chapter is rich in illustrations, with an executive summary and a helpful glossary of terms. Brain Disorders in Critical Illness is a seminal reference for all physicians and neuroscientists interested in the care and outcome of severely ill patients.