Download or read book Anna s Big Week written by Rene Pierpont (Pediatric Neuropsychologist) and published by Createspace Independent Publishing Platform. This book was released on 2018-01-06 with total page 40 pages. Available in PDF, EPUB and Kindle. Book excerpt: Anna is a spunky 9-year-old girl who loves acting and drawing Anna has Noonan syndrome, a genetic condition that affects how her body grows. Join Anna, her mother and her dog Sammy as they go through a busy and adventure-filled week, ad see what living with Noonan syndrome means for Anna!
Download or read book Noonan Syndrome written by Amrit P.S. Bhangoo and published by Academic Press. This book was released on 2019-05-16 with total page 215 pages. Available in PDF, EPUB and Kindle. Book excerpt: Noonan Syndrome: Characteristics and Interventions provides an in-depth analysis on this disorder that pediatric endocrinologists and primary care clinicians can use to make sure they provide affected patients with an updated model of care and appropriate treatment. The book examines recent advances in understanding and treating short stature in Noonan Syndrome, along with the latest progress in growth hormone-dependent signaling pathways involved in short stature, one of the most frequent clinical manifestations. Chapters also address how patients with Noonan Syndrome undergo more than average surgical procedures and have a great bleeding risk. This must have reference for pediatric endocrinologists and practicing physicians will give them all the information they need on the topic. Provides an accessible, up-to-date overview of the characteristics, state-of-the-art diagnostic procedures, and management of Noonan syndrome Offers an important resource for physicians who see and treat individual symptoms, rather than a disease complex, covering the important characteristics in the presence of heart anomalies and perioperative considerations Reviews multidisciplinary and post-treatment management of the disease
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 Syndromes Rapid Recognition and Perioperative Implications written by Bruno Bissonnette and published by McGraw-Hill Education / Medical. This book was released on 2006-08-10 with total page 988 pages. Available in PDF, EPUB and Kindle. Book excerpt: Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.
Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Download or read book Noonan Syndrome and Related Disorders written by Martin Zenker and published by Karger Medical and Scientific Publishers. This book was released on 2009 with total page 178 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this book, internationally recognized experts review the most important advances regarding the group of human developmental disorders caused by constitutive dysregulation of the Ras-MAPK signalling pathway, including Noonan, cardiofaciocutaneous, LEOPARD and Costello syndromes. A historical overview given by Jacqueline Noonan is followed by chapters dedicated to comprehensive clinical summaries of each condition and up-to-date reviews on associated gene mutations and molecular pathomechanisms. Genotypephenotype correlations are outlined. Further topics include the characterization and underlying mechanisms of common abnormalities in these syndromes such as growth failure, heart defects, and tumor risk. Animal models and the relation to neurofibromatosis type 1 are discussed. The final chapter covers the critical area of treatment including prospects emerging from an improved understanding of the pathophysiology of these disorders. Providing a concise overview of a very rapidly developing field and suggesting ways how to integrate the latest findings from basic molecular research into clinical practice, this book will be of interest to clinical geneticists, pediatricians, pediatric cardiologists, and pediatric endocrinologists, as well as to human molecular geneticists and other basic researchers working on the RAS pathway.
Download or read book Noonan Syndrome written by Stephen von Tetzchner and published by . This book was released on 1998 with total page 150 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics
Download or read book What is NOONAN SYNDROME Causes Treatment and More written by Dr. H. K. Saboowala. and published by Dr.Hakim Saboowala. This book was released on 2024-05-26 with total page 44 pages. Available in PDF, EPUB and Kindle. Book excerpt: What is NOONAN SYNDROME ? Causes, Treatment and More. Noonan syndrome is a genetically inherited disease with heterogeneous, phenotypic manifestations that can change with age. Gene mutations involve the RAAS/MAPK (mitogen-activated protein kinase) signalling pathway. The patient presentation can range from mild to severe. Thus, The most consistent features are wide-set eyes, low-set ears, short stature, and pulmonic stenosis. Noonan syndrome is typically inherited in an autosomal dominant manner. Diagnostic criteria have been developed to aid in the diagnosis of Noonan syndrome. Noonan syndrome is typically a clinical diagnosis. Thus, it is strived in this E-Booklet to describe the Aetiology, Prevalence, Diagnosis, Management, Outlook, and Complications of Noonan syndrome along with plenty of ILLUSTRATIONS for better understanding the entity. Dr. H. K. Saboowala. M.B.(Bom) .M.R.S.H.(London
Download or read book Animal and Translational Models for CNS Drug Discovery written by Robert A. McArthur and published by Academic Press. This book was released on 2008-11-27 with total page 1367 pages. Available in PDF, EPUB and Kindle. Book excerpt: Animal and Translational Models for CNS Drug Discovery combines the experience of academic, clinical and pharmaceutical neuroscientists in a unique collaborative approach to provide a greater understanding of the relevance of animal models of neuropsychiatric disorders and their role as translational tools for the discovery of CNS drugs being developed for the treatment of these disorders. The focus of this three-volume series of essays is to present a consensual picture of the translational value of animal models from leading experts actively involved in the use of animal models for understanding fundamental neurobiology of CNS disorders and the application of this knowledge to CNS drug discovery, and clinical investigators involved in clinical trials, drug development and eventual registration of novel pharmaceuticals. Each volume of the Animal and Translational Models for CNS Drug Discovery series is dedicated to the development and use of animal models in key therapeutic areas in psychiatric, neurologic and reward deficit disorders. Each volume has introductory chapters expressing the view of the role and relevance of animal models for CNS drug discovery and development from the perspective of (a) academic basic neuroscientific research, (b) applied pharmaceutical drug discovery and development, and (c) issues of clinical trial design and regulatory agencies limitations. Each volume examines the rationale, use, robustness and limitations of animal models in relevant therapeutic areas and discusses the use of animal models for target identification and validation. The clinical relevance of animal models is discussed in terms of major limitations in cross-species comparisons, clinical trial design of drug candidates, and how clinical trial endpoints could be improved. The aim of this series of volumes on Animal and Translational Models for CNS Drug Discovery is to identify and provide common endpoints between species that can serve to inform both the clinic and the bench with the information needed to accelerate clinically-effective CNS drug discovery. - Provides clinical, academic, government and industry perspectives fostering integrated communication between principle participants at all stages of the drug discovery process - Critical evaluation of animal and translational models improving transition from drug discovery and clinical development - Emphasizes what results mean to the overall drug discovery process - Explores issues in clinical trial design and conductance in each therapeutic area - Each volume is available for purchase individually.
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 588 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 Essentials of Anesthesia for Infants and Neonates written by Mary Ellen McCann and published by Cambridge University Press. This book was released on 2018-02-22 with total page 465 pages. Available in PDF, EPUB and Kindle. Book excerpt: A practical, comprehensive guide to the special needs of infants and neonates undergoing anesthesia.
Download or read book Personality and Psychopathology written by Robert F. Krueger and published by Guilford Publications. This book was released on 2013-10-17 with total page 415 pages. Available in PDF, EPUB and Kindle. Book excerpt: Traditionally, personality and psychopathology have been distinct areas of inquiry. This important volume reviews influential research programs that increasingly bridge the gap between the two areas. Presented are compelling perspectives on whether certain personality traits or structures confer risks for mental illness, how temperament interacts with other influences on psychological adaptation, links between personality disorders and mood and anxiety disorders, implications for effective intervention, and more.
Download or read book Growth Hormone Therapy in Pediatrics written by Michael B. Ranke and published by Karger Medical and Scientific Publishers. This book was released on 2007-01-01 with total page 534 pages. Available in PDF, EPUB and Kindle. Book excerpt: For 20 years, KIGS (Pfizer International Growth Database) has provided an outstanding tool for monitoring the use, efficacy and safety of growth hormone (GH) treatment in children with short stature of varying origin. This volume offers a comprehensive update of the continuing experiences in KIGS and is based on data from more than 50 countries and more than 60,000 patients. International experts analyse in detail the basic auxological characteristics of patients and their response to GH treatment for a broad spectrum of growth disorders. These include idiopathic GH deficiency, organic GH deficiency due to a variety of causes such as congenital malformations and syndromes, genetic disorders or treatment for leukaemia or central nervous system tumours and short stature in children born small for gestational age, specific syndromes and systemic disorders. Each growth disorder is also covered by a review of relevant published data by international experts. KIGS has also established itself as a primary source of information about adverse events during long-term GH treatment in children. The recent analysis of KIGS data has revealed no new adverse drug reactions since the 10-year follow-up. Therefore, treatment with GH seems a low-risk intervention in children and adolescents with various growth disorders. The process of developing disease-specific growth response prediction models has been ongoing in KIGS for many years. The available models are accurate, precise and have a relatively high degree of predictive power, although further predictors of the growth response remain to be identified. The KIGS prediction models can be applied prospectively to new patients, enabling their GH therapy to be better tailored and monitored to achieve optimal growth, safety and cost outcomes. The future of KIGS within the era of evidence-based medicine will continue to depend upon the quality of the data reported. Therefore, the commitment of participating physicians will continue to be a decisive element. The ongoing recognition of the importance of valid safety and efficacy information in the practice of paediatric endocrinology is exemplified by this valuable international collaboration of clinicians and the pharmaceutical community.
Download or read book American Academy of Pediatrics Textbook of Pediatric Care written by Jane Meschan Foy and published by . This book was released on 2016-03-31 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive manual of pediatric medicine - completely updated with 75 new chapters and e-book access.
Download or read book Pediatric Neurogastroenterology written by Christophe Faure and published by Springer. This book was released on 2016-11-25 with total page 544 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume provides a comprehensive and up-to-date theoretical review and practical guide on pediatric gastrointestinal motility and functional disorders. The latest edition includes extensively revised and new chapters to reflect the rapidly growing field of pediatric neurogastroenterology. New topics covered include neurobiology of pain in children, functional oropharyngoesophageal assessment, dysautonomia, and psychotropic drugs. The text also features instructive illustrations, photographs, and tables. Written by world-renown experts in the field, Pediatric Neurogastroenterology: Gastrointestinal Motility and Functional Disorders in Children, Second Edition is a valuable resource for pediatric gastroenterologists, adult gastroenterologists, pediatricians, and all professionals involved in the treatment and management of children with such disorders.
Download or read book Noonan Syndrome written by Michael Roy Sharland and published by . This book was released on 1992 with total page 448 pages. Available in PDF, EPUB and Kindle. Book excerpt:
