Epstein's Inborn Errors of Development


Book Description

Preceded by: Inborn errors of development / edited by Charles J. Epstein, Robert P. Erickson, Anthony Wynshaw-Boris. 2nd ed. 2008.




Epstein's Inborn Errors of Development


Book Description

This third edition of Epstein's Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. The authors of the chapters on each disorder have provided in depth analyses of the role of the gene in the relevant developmental pathway and the mechanism by which mutations in the gene cause the developmental pathology.




The Metabolic & Molecular Bases of Inherited Disease


Book Description

Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.




Inborn Errors of Metabolism


Book Description

This volume is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this book includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases.




Nelson Textbook of Pediatrics E-Book


Book Description

Welcome to the 21st Edition of Nelson Textbook of Pediatrics – the reference of choice among pediatricians, pediatric residents, and others involved in the care of young patients. This fully revised edition continues to provide the breadth and depth of knowledge you expect from Nelson, while also keeping you up to date with new advances in the science and art of pediatric practice. Authoritative and reader-friendly, it delivers the information you need in a concise, easy-to-use format for everyday reference and study. From rapidly changing diagnostic and treatment protocols to new technologies to the wide range of biologic, psychologic, and social problems faced by children today, this comprehensive reference keeps you on the cutting edge of the very best in pediatric care. - Includes more than 70 new chapters, including Postural Orthostatic Tachycardia Syndrome (POTS), Rare and Undiagnosed Diseases, Approach to Mitochondrial Disorders, Electronic Nicotine Delivery Systems, Zika, update on Ebola, Epigenetics, Autoimmune Encephalitis, Global Health, Racism, Media Violence, Strategies for Health Behavior Change, Positive Parenting, and many more. - Features hundreds of new figures and tables throughout for visual clarity and quick reference. - Offers new and expanded information on CRISPR gene editing; LGBT health care; gun violence; vaccinations; immune treatment with CAR-T cells; new technology in imaging and genomics; new protocols in cancer, genetics, immunology, and pulmonary medicine; and much more. - Provides fresh perspectives from four new associate editors: Nathan J. Blum of The Children's Hospital of Philadelphia; Karen Wilson of Mt. Sinai School of Medicine in New York; Samir S. Shah of Cincinnati Children's Hospital Medical Center; and Robert C. Tasker of Boston Children's Hospital. - Remains your indispensable source for definitive, evidence-based answers on every aspect of pediatric care.




Nelson Textbook of Pediatrics E-Book


Book Description

After more than 75 years, Nelson Textbook of Pediatrics remains your indispensable source for definitive, state-of-the-art answers on every aspect of pediatric care. Embracing the new advances in science as well as the time-honored art of pediatric practice, this classic reference provides the essential information that practitioners and other care providers involved in pediatric health care throughout the world need to understand to effectively address the enormous range of biologic, psychologic, and social problems that our children and youth may face. Brand-new chapters and comprehensive revisions throughout ensure that you have the most recent information on diagnosis and treatment of pediatric diseases based on the latest recommendations and methodologies. Form a definitive diagnosis and create the best treatment plans possible using evidence-based medicine and astute clinical experiences from leading international authors—many new to this edition. A NEW layout provides superior portability and exceptional ease of use. Gain a more complete perspective. Along with a broader emphasis on imaging and molecular diagnoses and updated references, the new edition includes an increased focus on international issues to ensure relevance in pediatrics practice throughout the world. Effectively apply the latest techniques and approaches with complete updates throughout 35 new chapters, including: Innovations in Addressing Child Health and Survival in Low Income Settings; Developmental Domains and Theories of Cognition; The Reggio Emilia Educational Approach Catatonia ; Refeeding Syndrome; Altitude-associated Illness; Genetic Approaches to Rare and Undiagnosed Diseases; Healthcare−Associated Infections; Intrapartum and Peripartum Infections; Bath salts and other drugs of abuse; Small Fiber Polyneuropathy; Microbiome; Kingella kingae; Mitochondrial Neurogastrointestinal Encephalomyopathy; Nonalcoholic Fatty Liver Disease; Plagiocephaly; CNS Vasculitis; Anterior Cruciate Ligament Rupture; and Sports-Related Traumatic Brain Injury. Recognize, diagnose, and manage genetic and acquired conditions more effectively. A new Rehabilitation section with 10 new chapters, including: Evaluation of the Child for Rehabilitative Services; Severe Traumatic Brain Injury; Spinal Cord Injury and Autonomic Crisis Management; Spasticity; Birth Brachial Plexus Palsy; Traumatic and Sports-Related Injuries; Meningomyelocele; Health and Wellness for Children with Disabilities. Manage the transition to adult healthcare for children with chronic diseases through discussions of the overall health needs of patients with congenital heart defects, diabetes, and cystic fibrosis. Understand the principles of therapy and which drugs and dosages to prescribe for every disease.




Nelson Textbook of Pediatrics, 2-Volume Set


Book Description

After more than 75 years, Nelson Textbook of Pediatrics remains your indispensable source for definitive, state-of-the-art answers on every aspect of pediatric care. Embracing the new advances in science as well as the time-honored art of pediatric practice, this classic reference provides the essential information that practitioners and other care providers involved in pediatric health care throughout the world need to understand to effectively address the enormous range of biologic, psychologic, and social problems that our children and youth may face. Brand-new chapters and comprehensive revisions throughout ensure that you have the most recent information on diagnosis and treatment of pediatric diseases based on the latest recommendations and methodologies. "The coverage of such a wide range of subjects relating to child health makes this textbook still the gold standard and companion for all pediatricians across the world." Reviewed by Neel Kamal, Sept 2015 "All in all, this is an excellent and detailed paediatric review textbook which represents excellent value for money..truly a textbook for the global community" Reviewed by glycosmedia.com, Sept 2015 Form a definitive diagnosis and create the best treatment plans possible using evidence-based medicine and astute clinical experiences from leading international authors-many new to this edition. A NEW two-volume layout provides superior portability and exceptional ease of use. Gain a more complete perspective. Along with a broader emphasis on imaging and molecular diagnoses and updated references, the new edition includes an increased focus on international issues to ensure relevance in pediatrics practice throughout the world. Effectively apply the latest techniques and approaches with complete updates throughout 35 new chapters, including: Innovations in Addressing Child Health and Survival in Low Income Settings; Developmental Domains and Theories of Cognition; The Reggio Emilia Educational Approach Catatonia ; Refeeding Syndrome; Altitude-associated Illness; Genetic Approaches to Rare and Undiagnosed Diseases; Healthcare?Associated Infections; Intrapartum and Peripartum Infections; Bath salts and other drugs of abuse; Small Fiber Polyneuropathy; Microbiome; Kingella kingae; Mitochondrial Neurogastrointestinal Encephalomyopathy; Nonalcoholic Fatty Liver Disease; Plagiocephaly; CNS Vasculitis; Anterior Cruciate Ligament Rupture; and Sports-Related Traumatic Brain Injury. Recognize, diagnose, and manage genetic and acquired conditions more effectively. A new Rehabilitation section with 10 new chapters, including: Evaluation of the Child for Rehabilitative Services; Severe Traumatic Brain Injury; Spinal Cord Injury and Autonomic Crisis Management; Spasticity; Birth Brachial Plexus Palsy; Traumatic and Sports-Related Injuries; Meningomyelocele; Health and Wellness for Children with Disabilities. Manage the transition to adult healthcare for children with chronic diseases through discussions of the overall health needs of patients with congenital heart defects, diabetes, and cystic fibrosis. Understand the principles of therapy and which drugs and dosages to prescribe for every disease. Expert Consult eBook version included with purchase. This enhanced eBook experience allows you to search all of the text, figures, and references from the book on a variety of devices.




Cassidy and Allanson's Management of Genetic Syndromes


Book Description

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 routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.




Primary Immunodeficiency Disorders


Book Description

Primary Immunodeficiency Disorders: A Historic and Scientific Perspective provides a complete historical context that is crucial for students and researchers concerned with primary immunodeficiency. When researchers have a poor understanding of the way we arrived where we are in research, they can miss important points about a disease, or miss out on how to approach new diseases. This historical knowledge of research can assist greatly by showing how it was done in the past, demonstrating the successes and failures, so that it can be done better in the future. This book provides an understanding of the process going from clinical problem to lab and back to the clinic, based on historical experiences. Its chapters proceed from the discovery of the T and B cell lineages through the first BMT for immunodeficiency disorder; lab investigation and gene therapy for PID; the discovery of the gene for AT and its function; understanding cytokine defects; and many other stops along the way. - Facilitates communication among physicians and other investigators concerned with immunological and inflammatory diseases - Summarizes for the first time all the known facts from 60 years of primary immunodeficiency research, and teaches how an important field in medicine was established - Provides stimulating discussions on developing new medical therapiesHighlights the importance of studying humans to understand mechanisms of disease that affect humans




Liver Disease in Children


Book Description

Completely revised new edition of the premier reference on pediatric liver disease. Liver Disease in Children, 3rd Edition provides authoritative coverage of every aspect of liver disease affecting infants, children, and adolescents. The book offers an integrated approach to the science and clinical practice of pediatric hepatology and charts the substantial progress in understanding and treating these diseases. Chapters are written by international experts and address the unique pathophysiology, manifestations, and management of these disorders in the pediatric population. The third edition has been thoroughly updated and features new contributions on liver development, cholestatic and autoimmune disorders, fatty liver disease, and inborn errors of metabolism. With the continued evolution of pediatric hepatology as a discipline, this text remains an essential reference for all physicians involved in the care of children with liver disease.