Search

This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD.Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers.The book presents a clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. It includes separate, comprehensive sections on IEM classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques.Two new chapters were added, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.

Movement Disorders in Childhood, Third Edition provides the most up-to-date information on the diseases and disorders that affect motor control, an important area of specialization within child neurology. In this new edition, each chapter has been fully revised to include all of the latest scientific and therapeutic advances. Updates include new insights in motor development, control, goal-directed and habitual behaviors, classifications of movements and their complex and integrated circuitry. The authors also discuss developments in pathophysiologic mechanisms, immunology and metabolic disorders. New chapters include coverage of genetics of movement disorders and movement disorders in psychiatric conditions.Appendices include an updated and revised drug index and genetic search strategy. An updated Companion website hosts selected educational videos to help diagnose movement disorders. - Provides the only current reference specifically focused on childhood movement disorders - Investigates the underlying etiologies and mechanisms of these disorders - Revised and updated with new materials and a more disease-oriented approach - Contains new chapters on the genetics of movement disorders and movement disorders in psychiatric conditions - Includes new videos of instructive and unusual childhood movement disorders

This book is aimed at primary care providers who care for the pediatric age group (general pediatrician, the PCP working with pediatric patients, and family medicine providers) with the goal of covering the endocrine differential diagnosis of common signs and symptoms of possible endocrine disease as well as appropriate initial laboratory evaluation and interpretation. While multiple pediatric endocrine textbooks exist, most of them are heavy in coverage of physiology and rare diseases, with less discussion of practical steps in evaluation and diagnosis. This book distinguishes itself through a very practical approach. The first section is organized by presenting signs and symptoms, the second section is organized by laboratory interpretation, and the third section provides summaries of common pediatric endocrine disorders. Chapters are concise, providing critical clinical information including clinical pearls, common diagnoses and important points inpatient counseling. Written by experts in the field, Endocrine Conditions in Pediatrics is a valuable resource that provides general pediatricians and other primary care providers with all of the information they need to provide superb patient care before transferring to a pediatric endocrinologist when necessary.

This book, which will hold global appeal, adopts a problem-based approach to childhood disorders of the nervous system with the aim of supporting practicing child neurologists, pediatricians, and residents in training in their management of children with neurological disorders. Throughout, the practical assistance that it offers is based firmly on the best available current scientific evidence. The various pediatric neurologic diseases and organ systems are covered by pediatric neurologists and scientists from leading university hospitals and health centers in both the developed and the developing world. In addition to the full range of more frequent disorders, the book spans the neurological aspects of neglected tropical diseases and neurogenetic diagnostic and management algorithms utilizing the power of emerging DNA technology. A further feature is the inclusion of didactic videos relating to epileptic and movement disorders. As an open access publication with a strong clinical focus, the book will be a handy and valuable reference and resource for all practitioners who deal with childhood neurological disorders.

A concise, yet comprehensive source of current information on the medical problems of children –-- from birth through adolescence A Doody's Core Title for 2019! •A practical, up-to-date well-referenced guide to the diagnosis and treatment of the most commonly seen medical conditions in children •Excellent coverage of The Council on Medical Student Education in Pediatrics (COMSEP) curriculum used in pediatric clerkship •46 chapters cover a wide range of topics, including neonatal medicine, child development and behavior, emergency and critical care medicine, and diagnosis and treatment of specific disorders according to major problems, etiologies, and organ systems •A wealth of tables and figures provide quick access to important information, such as acute and critical care procedures in the delivery room, the office, the emergency room, and the critical care unit; anti-infective agents, drug dosages, immunization schedules, differential diagnoses, and developmental disorders •Includes detailed descriptions of diseases as well as diagnostic and therapeutic procedures •Complete with handy guide to normal laboratory values •Presented in the consistent, easy-to-follow CURRENT format •Valuable to medical students, pediatric residents, pediatricians, family practitioners, nurses, nurse practitioners, physician assistants, and other healthcare providers who work with infants, children, and adolescents •Authors are practicing pediatricians to ensure that each chapter reflects the needs and realities of day-to-day practice

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. The landmark pediatrics reference – completely reinvented by an all new team of editors Rudolph's Pediatrics has virtually defined the pediatric field for over a century, becoming one of the most important and well-respected pediatrics texts ever published. Renowned for its balance of clinical features and treatment of disease with underlying biological principles, this classic sourcebook has helped generations of pediatricians optimize their care of infants, children, and adolescents. The Twenty-Third Edition of Rudolph's has been completely restructured and streamlined thanks to an all new team of editors whose goal was to reinvent this classic with today's busy practitioner in mind. Presented in full color, the Twenty-Third Edition provides an up-to-date, in-depth survey of pediatric medicine unmatched by any other text. With its algorithmic approach to pediatric systems, the book facilitates the diagnosis and treatment of both common and uncommon pediatric illnesses; and it reflects new technologies and advances in molecular medicine that continue to evolve with current thinking about normal childhood development and pediatric disease processes. • New team of editors achieves consistency in both tone and depth of content • Contributions from section editors and authors from leading academic pediatrics programs give expert coverage of general pediatrics and all of the pediatric sub-specialties • Streamlined and consistent format for most chapters outlining Pathogenesis and Epidemiology, Clinical Manifestations, Diagnosis, Treatment, and Prevention • New 2-Volume presentation improves portability • Hundreds of full-color illustrations and tables • The acclaimed balance between clinical applicability and underlying biological principles offers pediatricians a depth of coverage not found anywhere else • Brand new or significantly revised chapters include: Complementary and Integrative Pediatrics, Childhood Adversity and Toxic Stress, Autism Spectrum Disorder, Pediatric Depression and Bipolar Spectrum Disorders, Extracorporeal Membrane Oxygenation (ECMO), Palliative Care for Children with Chronic Diseases, Arboviruses (with new coverage of Zika virus and chikungunya virus), Physiologic Basis of Pulmonary Function; Acute Lymphoblastic Leukemia; Neuroblastoma “You'd be hard pressed to find a resource that matches up to the comprehensive scope of Rudolph's. It's no wonder it's a staple in most offices and hospitals.” -Doody's Review Service

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

Dyslipidemias: Pathophysiology, Evaluation and Management provides a wealth of general and detailed guidelines for the clinical evaluation and management of lipid disorders in adults and children. Covering the full range of common through rare lipid disorders, this timely resource offers targeted, practical information for all clinicians who care for patients with dyslipidemias, including general internists, pediatric and adult endocrinologists, pediatricians, lipidologists, cardiologists, internists, and geneticists. For the last twenty years, there has been a growing recognition worldwide of the importance of managing dyslipidemia for the primary and secondary prevention of atherosclerotic vascular disease, especially coronary heart disease. This has been mainly due to the publication of the guidelines of National Cholesterol Education Program's Adult Treatment Panel and Pediatric Panel from the United States. These guidelines have stimulated generation of similar recommendations from all over the world, particularly Europe, Canada, Australia and Asia. Developed by a renowned group of leading international experts, the book offers state-of-the-art chapters that are peer-reviewed and represent a comprehensive assessment of the field. A major addition to the literature, Dyslipidemias: Pathophysiology, Evaluation and Management is a gold-standard level reference for all clinicians who are challenged to provide the best care and new opportunities for patients with dyslipidemias.

This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician's Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases.Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.