Neurology Of Hereditary Metabolic Diseases Of Children Third Edition
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| Author | : Gilles Lyon |
| Publisher | : McGraw Hill Professional |
| Total Pages | : 553 |
| Release | : 2010-05-16 |
| Genre | : Medical |
| ISBN | : 0071491996 |
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
| Author | : Georg F. Hoffmann |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 380 |
| Release | : 2009-11-21 |
| Genre | : Medical |
| ISBN | : 3540747230 |
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.
| Author | : A Parthasarathy |
| Publisher | : Jaypee Brothers Medical Publishers |
| Total Pages | : 1634 |
| Release | : 2019-02-04 |
| Genre | : Medical |
| ISBN | : 9352708016 |
SECTION 1 BASIC CONCEPTS OF CHILD CARE SECTION 2 CARE OF THE NEWBORN SECTION 3 GROWTH AND DEVELOPMENT SECTION 4 NUTRITION SECTION 5 IMMUNITY, IMMUNIZATION AND INFECTIOUS DISEASES SECTION 6 DISEASES OF CENTRAL NERVOUS SYSTEM SECTION 7 DISEASES OF CARDIOVASCULAR SYSTEM SECTION 8 DISEASES OF RESPIRATORY SYSTEM SECTION 9 DISEASES OF GASTROINTESTINAL SYSTEM AND LIVER SECTION 10 DISEASES OF KIDNEY AND URINARY TRACT SECTION 11 DISEASES OF BLOOD SECTION 12 PEDIATRIC MALIGNANCIES SECTION 13 ENDOCRINOLOGY SECTION 14 GENETICS SECTION 15 ADOLESCENT HEALTH SECTION 16 RHEUMATOLOGY SECTION 17 INTENSIVE CARE AND EMERGENCIES SECTION 18 PEDIATRIC SUBSPECIALTIES SECTION 19 COMMUNITY PEDIATRICS SECTION 20 PEDIATRIC PROCEDURES SECTION 21 PEDIATRIC THERAPEUTICS Appendix Index
| Author | : Joe T. R. Clarke |
| Publisher | : Cambridge University Press |
| Total Pages | : 360 |
| Release | : 2005-12-08 |
| Genre | : Medical |
| ISBN | : 1139447181 |
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.
| Author | : Kenneth F. Swaiman |
| Publisher | : Elsevier Health Sciences |
| Total Pages | : 2535 |
| Release | : 2006-01-01 |
| Genre | : Medical |
| ISBN | : 0323033652 |
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
| Author | : Anoop Verma |
| Publisher | : Jaypee Brothers Medical Publishers |
| Total Pages | : 606 |
| Release | : 2019-05-31 |
| Genre | : Medical |
| ISBN | : 9352709799 |
Chapter 1. Approach to Neurological Assessment in Children Chapter 2. Approach to Localization of Neurological Disorders Chapter 3. Approach to Congenital Malformation of Brain Chapter 4. Approach to Abnormal Head: Size and Shape Chapter 5. Approach to Developmental Delay in Children Chapter 6. Approach to Intellectual Disability and Specific Learning Disorder Chapter 7. Approach to Autism Chapter 8. Approach to Inborn Errors of Metabolism in Neonate, Infant, and Children Chapter 9. Approach to Neuronal Migration Disorders Chapter 10. Approach to Acute Febrile Chapter 11. Approach to Acute Encephalitis (Indian Scenario) Chapter 12. Approach to Childhood Neurotuberculosis in Children Chapter 13. Approach to Cerebral Malaria Chapter 14. Approach to Neurocysticercosis in Children Chapter 15. Approach to Fungal Infections of Central Nervous System Chapter 16. Approach to Altered Sensorium Chapter 17. Approach to Acute Stroke Syndrome Chapter 18. Approach to Febrile Seizures and Fever-related Epilepsies Chapter 19. Approach to a Child with Epilepsy Chapter 20. Approach to Self-limited Focal Epilepsies of Childhood Chapter 21. Approach to Intractable Seizures Chapter 22. Approach to Seizures Imitator and Seizure Mimics Chapter 23. Approach to Dizziness and Vertigo in Children Chapter 24. Approach to Neonatal Seizures Chapter 25. Approach to Management of Status Epilepticus Chapter 26. Current Guidelines for Diagnosis and Management of Childhood Epilepsy Chapter 27. Approach to Neurological Emergencies in Children Chapter 28. Approach to Child with Cerebral Palsy Chapter 29. Approach to Early Intervention Therapy in Cerebral Palsy Chapter 30. Approach to Neurodegenerative Disorders Chapter 31. Approach to Demyelinating Disorders of Central Nervous System Chapter 32. Approach to Movement Disorders in Children Chapter 33. Approach to Opsoclonus Myoclonus Syndrome Chapter 34. Approach to a Child with Ataxia Chapter 35. Approach to Neuromuscular Diseases Chapter 36. Approach to Child with Acute Flaccid Paralysis Chapter 37. Approach to Paraplegia Chapter 38. Approach to Floppy Infant Chapter 39. Approach to a Child with Myopathy and Myositis Chapter 40. Approach to Headache in Children Chapter 41. Approach to Neurocutaneous Syndrome Chapter 42. Approach to Nutritional Disorders of Nervous System Chapter 43. Approach to Rabies Chapter 44. Approach to Neurotoxic Snake Envenomation Chapter 45. Fundus Examination in Children Chapter 46. Approach to Cerebrospinal Fluid Interpretation in Children Chapter 47. Approach to Neurophysiological Investigations Chapter 48. Approach to Basics of MRI and CT Scan Drugs Appendix Index
| Author | : Michael Labanowski |
| Publisher | : McGraw-Hill Education / Medical |
| Total Pages | : 324 |
| Release | : 2006 |
| Genre | : Medical |
| ISBN | : |
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.
| Author | : Juerg Hodler |
| Publisher | : Springer Nature |
| Total Pages | : 252 |
| Release | : 2020-02-14 |
| Genre | : Medical |
| ISBN | : 303038490X |
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.
| Author | : Phillip L. Pearl, MD |
| Publisher | : Demos Medical Publishing |
| Total Pages | : 377 |
| Release | : 2012-10-04 |
| Genre | : Medical |
| ISBN | : 1617050563 |
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
| Author | : Gilles Lyon |
| Publisher | : McGraw-Hill Professional Publishing |
| Total Pages | : 414 |
| Release | : 1996 |
| Genre | : Medical |
| ISBN | : |
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.
