Download or read book Epstein s Inborn Errors of Development written by Robert P. Erickson and published by Oxford University Press. This book was released on 2016 with total page 1553 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preceded by: Inborn errors of development / edited by Charles J. Epstein, Robert P. Erickson, Anthony Wynshaw-Boris. 2nd ed. 2008.
Download or read book Inborn Errors of Development written by Charles J. Epstein and published by Oxford University Press, USA. This book was released on 2004 with total page 1110 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them.
Download or read book Epstein s Inborn Errors of Development written by Robert P. Erickson MD and published by Oxford University Press. This book was released on 2016-06-30 with total page 1600 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book The Metabolic Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Download or read book Primary Immunodeficiency Disorders written by Amos Etzioni and published by Academic Press. This book was released on 2014-09-13 with total page 376 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 therapies Highlights the importance of studying humans to understand mechanisms of disease that affect humans
Download or read book Nelson Textbook of Pediatrics 2 Volume Set written by Robert M. Kliegman, MD and published by Elsevier Health Sciences. This book was released on 2015-04-22 with total page 5111 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Nelson Textbook of Pediatrics E Book written by Robert M. Kliegman and published by Elsevier Health Sciences. This book was released on 2019-04-01 with total page 6667 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Inborn Errors of Development written by Charles J. Epstein and published by Oxford University Press, USA. This book was released on 2008 with total page 1672 pages. Available in PDF, EPUB and Kindle. Book excerpt: Honored by the Association of American Publishers as the Best Medical Book of 2004, Inborn Errors is the definitive work on genetically caused abnormalities of human development. Despite the explosion in genetic advances, the causes of two-thirds of all birth defects remain unknown. However, we are on the brink of a revolution in this area, and Inborn Errors is at the forefront. It is the first book to connect the disease-causing gene to its biochemical pathway and to the structural/functional disorder. Mutations of the gene, the clinical picture, genetic counseling and prognosis, and any known treatments are discussed. For medical geneticists, genetic counselors, pediatricians, and developmental biologists, the book is a unique and groundbreaking reference.
Download or read book Cassidy and Allanson s Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Problems of Birth Defects written by T.V.N. Persaud and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 395 pages. Available in PDF, EPUB and Kindle. Book excerpt: Surprisingly, the beginning of a modern approach This collection of articles and commentaries is an to the problems of birth defects is relatively recent integration of information from many disciplines, and dates from Gregg's classical report in 1941 that and presents a comprehensive survey of both recent mothers who contracted rubella during the first tri and previously reported work related to the major mester of pregnancy gave birth to infants with severe aspects of birth defects. In particular, an attempt multiple anomalies. For the first time, an environ has been made to provide a critical assessment of mental agent was found to be teratogenic in man current concepts and to identify areas in need of and was documented in a thoroughly convincing further investigation. manner. Since then, many important discoveries The scope of this volume and space limitations and significant developments have been made, par precluded discussion of and reference to all papers ticularly in the areas of environmental teratogenesis, of relevance or importance: a work of the present hereditary mechanisms, and prenatal diagnosis. nature must necessarily be selective. Some good In recent years, there has been an impressive papers have been left out or given relatively little surge of interest in the causes and prevention of consideration. It is my hope that the list of Further birth defects. Undoubtedly this resulted not only References will be consulted and should compensate from the thalidomide tragedy, but also from the for this lack of completeness.
Download or read book Liver Disease in Children written by Frederick J. Suchy and published by Cambridge University Press. This book was released on 2021-03-18 with total page 875 pages. Available in PDF, EPUB and Kindle. Book excerpt: Liver disease in children is increasing in prevalence, placing a huge burden on healthcare systems and often requiring long-term management. Offering an integrative approach to the science and clinical practice of pediatric hepatology, this is the definitive reference text for improved diagnosis and treatment strategies. In the new edition of this authoritative text, chapters have been thoroughly revised in line with major advances in the field, such as recognizing the increased frequency of fatty liver disease, and how genetic testing has the potential to establish earlier diagnoses for a variety of diseases. Disorders covered include cholestasis, metabolic disorders and hepatitis, with their presentation across the spectrum of infancy, childhood and adolescence discussed. The indications and surgical aspects of liver transplant are explained and post-transplant care is described in detail. This is a valuable resource for pediatricians, hepatologists, gastroenterologists and all clinicians involved in the care of children with liver diseases.
Download or read book The Genetics of Cancer written by B.A. Ponder and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 222 pages. Available in PDF, EPUB and Kindle. Book excerpt: It has been recognized for almost 200 years that certain families seem to inherit cancer. It is only in the past decade, however, that molecular genetics and epidemiology have combined to define the role of inheritance in cancer more clearly, and to identify some of the genes involved. The causative genes can be tracked through cancer-prone families via genetic linkage and positional cloning. Several of the genes discovered have subsequently been proved to play critical roles in normal growth and development. There are also implications for the families themselves in terms of genetic testing with its attendant dilemmas, if it is not clear that useful action will result. The chapters in The Genetics of Cancer illustrate what has already been achieved and take a critical look at the future directions of this research and its potential clinical applications.
Download or read book Immunodeficiency Disorders written by Jordan S. Orange and published by . This book was released on 2008 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Topics include: "Genetic Diagnosis ofPrimary Immunodeficiencies","IPEX syndrome and Treg deficiency in primaryimmunodeficiency","DiGeorge syndrome and other thymic hypoplasias","Common VariableImmunodeficiency", "Hyper IgE syndromes","Hyper IgM syndromes","Hematophagocyticlymphohistiocytoses", "Defects of the Toll LikeReceptor System", "Congenital Neutropenias", "Advances in Severe Combined Immunodeficiency", "Genetic Defects of Apoptosis and PrimaryImmunodeficiency", "Principles of and Advances inimmunoglobuin replacement therapy for primary immunodeficiency", "Gene therapy for primary immunodeficiency"
Download or read book Principles of Molecular Cardiology written by Marschall S. Runge and published by Springer Science & Business Media. This book was released on 2007-11-14 with total page 604 pages. Available in PDF, EPUB and Kindle. Book excerpt: An easy-to-read survey of all the latest developments in molecular cardiologic research and therapy. The authors explain in a readable style the complex process of the heart's development, the molecular basis of cardiovascular diseases, and the translation of these research advances to actual clinical treatments. The expert information provided here serves as an invaluable building block for novel treatments of cardiovascular diseases and includes a comprehensive discussion of cardiac function and dysfunction, coronary artery disease, cardiac arrhythmias, vascular diseases, and risk factors for cardiovascular disease. These state-of-the-art approaches to molecular cardiologic research include critical discussion of such topics as the molecular events that regulate angiogenesis and the potential for angiogenic therapy, emerging therapies for arrhythmias, and a description of the molecular biology of aging and its impact on the cardiovascular system.
Download or read book Primary Immunodeficiency Diseases written by Hans D. Ochs and published by Oxford University Press, USA. This book was released on 2007 with total page 745 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book will present the principles of immunology, genetics, and molecular biology as they pertain to the primary immunodeficiency diseases; the hallmark of these diseases is an increased susceptbility to infections. The major authorities in the field address both the scientific aspects and the practical, clinical aspects of these disorders, including therapeutic strategies. The second edition features 11 new chapters as well as a significant updating of all the first edition material in this fast-developing field. The book should appeal to geneticists, pediatricians, immunologists, infectio.
Download or read book Pediatric Nephrology written by Ellis D. Avner and published by Springer Science & Business Media. This book was released on 2009-08-20 with total page 2059 pages. Available in PDF, EPUB and Kindle. Book excerpt: Here is an extensive update of Pediatric Nephrology, which has become the standard reference text in the field. It is global in perspective and reflects the international group of editors, who are well-recognized experts in pediatric nephrology. Within this text, the development of kidney structure and function is followed by detailed and comprehensive chapters on all childhood kidney diseases.
Download or read book Arthrogryposis written by Lynn T. Staheli and published by Cambridge University Press. This book was released on 1998-04-28 with total page 302 pages. Available in PDF, EPUB and Kindle. Book excerpt: The term arthrogryposis describes a range of congenital contractures that lead to childhood deformities. It encompasses a number of syndromes and sporadic deformities that are rare individually but collectively are not uncommon. Yet, the existing medical literature on arthrogryposis is sparse and often confusing. The aim of this book is to provide individuals affected with arthrogryposis, their families, and health care professionals with a helpful guide to better understand the condition and its therapy. With this goal in mind, the editors have taken great care to ensure that the presentation of complex clinical information is at once scientifically accurate, patient oriented, and accessible to readers without a medical background. The book is authored primarily by members of the medical staff of the Arthrogryposis Clinic at Children's Hospital and Medical Center in Seattle, Washington, one of the leading teams in the management of the condition, and will be an invaluable resource for both health care professionals and families of affected individuals.
