Noonan Syndrome

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• Author : Amrit P.S. Bhangoo
• Publisher : Academic Press
• Release Date : 2019-05-16
• Total pages : 215
• ISBN : 9780128153499
• File Size : 10,6 Mb
• Total Download : 944
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Download Noonan Syndrome in PDF, Epub, and Kindle

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

• Author : Martin Zenker
• Publisher : Karger Medical and Scientific Publishers
• Release Date : 2009
• Total pages : 178
• ISBN : 9783805586535
• File Size : 43,7 Mb
• Total Download : 889
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Download Noonan Syndrome and Related Disorders in PDF, Epub, and Kindle

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.

• Author : Rene Pierpont (Pediatric Neuropsychologist),Saakshi Daswani
• Publisher : Createspace Independent Publishing Platform
• Release Date : 2018-01-06
• Total pages : 40
• ISBN : 1981346562
• File Size : 23,5 Mb
• Total Download : 709
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Download Anna's Big Week in PDF, Epub, and Kindle

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!

• Author : John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil
• Publisher : John Wiley & Sons
• Release Date : 2021-01-27
• Total pages : 1104
• ISBN : 9781119432678
• File Size : 27,5 Mb
• Total Download : 401
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Download Cassidy and Allanson's Management of Genetic Syndromes in PDF, Epub, and Kindle

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.

• Author : National Organization for Rare Disorders
• Publisher : Lippincott Williams & Wilkins
• Release Date : 2003
• Total pages : 982
• ISBN : 0781730635
• File Size : 22,7 Mb
• Total Download : 522
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Download NORD Guide to Rare Disorders in PDF, Epub, and Kindle

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.

• Author : Suzanne B. Cassidy,Judith E. Allanson
• Publisher : John Wiley & Sons
• Release Date : 2011-09-20
• Total pages : 541
• ISBN : 9781118210673
• File Size : 53,6 Mb
• Total Download : 264
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Download Management of Genetic Syndromes in PDF, Epub, and Kindle

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

• Author : Bruno Bissonnette
• Publisher : McGraw-Hill Education / Medical
• Release Date : 2006-08-10
• Total pages : 988
• ISBN : UOM:39015064795670
• File Size : 11,8 Mb
• Total Download : 569
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Download Syndromes: Rapid Recognition and Perioperative Implications in PDF, Epub, and Kindle

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.

• Author : Anonim
• Publisher : ScholarlyEditions
• Release Date : 2012-12-10
• Total pages : 24
• ISBN : 9781464981135
• File Size : 32,9 Mb
• Total Download : 529
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Download Noonan Syndrome: New Insights for the Healthcare Professional: 2012 Edition in PDF, Epub, and Kindle

Noonan Syndrome: New Insights for the Healthcare Professional / 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Noonan Syndrome in a compact format. The editors have built Noonan Syndrome: New Insights for the Healthcare Professional / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Noonan Syndrome in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Noonan Syndrome: New Insights for the Healthcare Professional / 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

• Author : Sam Goldstein,Cecil R. Reynolds
• Publisher : Guilford Press
• Release Date : 2010-10-19
• Total pages : 588
• ISBN : 9781609180003
• File Size : 27,8 Mb
• Total Download : 128
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Download Handbook of Neurodevelopmental and Genetic Disorders in Children, 2/e in PDF, Epub, and Kindle

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.

• Author : Olivia Gordon
• Publisher : Pan Macmillan
• Release Date : 2019-06-13
• Total pages : 320
• ISBN : 9781509871216
• File Size : 23,7 Mb
• Total Download : 291
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Download The First Breath in PDF, Epub, and Kindle

‘Fascinating and moving.' - Adam Kay, author of This is Going to Hurt A BBC Radio 4 A Good Read choice This is a story about the cutting-edge medicine that has saved a generation of babies. It's about the love and fear a parent feels for a child they haven’t yet met. It's about doctors, mothers, fathers and babies as together they fight for the first breath. The First Breath is a book about motherhood and medicine. Olivia Gordon decided to find out how, exactly, modern science saved her son’s life. Crossing medical memoir with popular science, The First Breath is an investigation into the pioneering fetal and neonatal care bringing a new generation into the world, who would not have lived if they had been born only a few decades ago. The First Breath explores the female experience of medicine and details the relationship mothers develop with doctors who hold not only life and death in their hands, but also the very possibility of birth. From the dawn of fetal medicine to neonatal surgery and the exploding field of perinatal genetics, The First Breath tells of fear, bravery and love. Olivia Gordon takes the reader behind the closed doors of the fetal and neonatal intensive care units, resuscitation rooms and operating theatres at some of the world’s leading children’s hospitals, unveiling the untold story of how doctors save the sickest babies.

• Author : Stephen von Tetzchner,Rikshospitalet (Oslo, Norway). Smågruppesenteret
• Publisher : Unknown
• Release Date : 1998
• Total pages : 150
• ISBN : 8291198357
• File Size : 14,8 Mb
• Total Download : 482
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Download Noonan Syndrome in PDF, Epub, and Kindle

PDF book entitled Noonan Syndrome written by Stephen von Tetzchner,Rikshospitalet (Oslo, Norway). Smågruppesenteret and published by Unknown which was released on 1998 with total hardcover pages 150, the book become popular and critical acclaim.

• Author : Michael B. Ranke,David Anthony Price,Edward O. Reiter
• Publisher : Karger Medical and Scientific Publishers
• Release Date : 2007-01-01
• Total pages : 534
• ISBN : 9783805582568
• File Size : 53,5 Mb
• Total Download : 563
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Download Growth Hormone Therapy in Pediatrics in PDF, Epub, and Kindle

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.

• Author : Sharon Moalem
• Publisher : Grand Central Publishing
• Release Date : 2014-04-15
• Total pages : 210
• ISBN : 9781455549450
• File Size : 27,5 Mb
• Total Download : 174
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Download Inheritance in PDF, Epub, and Kindle

Award-winning physician and New York Times bestselling author Sharon Moalem, MD, PhD, reveals how genetic breakthroughs are completely transforming our understanding of both the world and our lives. Inheritance Conventional wisdom dictates that our genetic destiny is fixed at conception. But Dr. Moalem's groundbreaking book shows us that the human genome is far more fluid and fascinating than your ninth grade biology teacher ever imagined. By bringing us to the bedside of his unique and complex patients, he masterfully demonstrates what rare genetic conditions can teach us all about our own health and well-being. In the brave new world we're rapidly rocketing into, genetic knowledge has become absolutely crucial. Inheritance provides an indispensable roadmap for this journey by teaching you: -Why you may have recovered from the psychological trauma caused by childhood bullying-but your genes may remain scarred for life. -How fructose is the sugar that makes fruits sweet-but if you have certain genes, consuming it can buy you a one-way trip to the coroner's office. -Why ingesting common painkillers is like dosing yourself repeatedly with morphine-if you have a certain set of genes. -How insurance companies legally use your genetic data to predict the risk of disability for you and your children-and how that impacts the coverage decisions they make for your family. -How to have the single most important conversation with your doctor-one that can save your life. And finally: -Why people with rare genetic conditions hold the keys to medical problems affecting millions. In this trailblazing book, Dr. Moalem employs his wide-ranging and entertaining interdisciplinary approach to science and medicine-- explaining how art, history, superheroes, sex workers, and sports stars all help us understand the impact of our lives on our genes, and our genes on our lives. Inheritance will profoundly alter how you view your genes, your health--and your life.

• Author : Mary Ellen McCann,Christine Greco,Kai Matthes
• Publisher : Cambridge University Press
• Release Date : 2018-02-22
• Total pages : 465
• ISBN : 9781107069770
• File Size : 52,7 Mb
• Total Download : 736
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Download Essentials of Anesthesia for Infants and Neonates in PDF, Epub, and Kindle

A practical, comprehensive guide to the special needs of infants and neonates undergoing anesthesia.

• Author : Kenneth Lyons Jones,David W. Smith
• Publisher : Saunders
• Release Date : 2006
• Total pages : 0
• ISBN : 0721606156
• File Size : 47,7 Mb
• Total Download : 876
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Download Smith's Recognizable Patterns of Human Malformation in PDF, Epub, and Kindle

Long known as the source to consult for guidance on diagnosis, prognosis, plan management, and genetic counseling, this easy-to-use reference focuses on patterns of human defects caused by inborn errors in morphogenesis as opposed to defects caused by mechanical problems. Each chapter includes a description of the specific abnormality--including occasional associated abnormalities--natural history, etiology, and references. Full color.

• Author : Dongyou Liu
• Publisher : CRC Press
• Release Date : 2020-05-08
• Total pages : 828
• ISBN : 9781351187411
• File Size : 43,5 Mb
• Total Download : 559
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Download Handbook of Tumor Syndromes in PDF, Epub, and Kindle

Tumors/cancers are characterized by uncontrolled growths of abnormal cells that extend beyond their usual boundaries and disrupt the normal functions of affected organs and systems. While about 75%–80% of tumors/cancers arise sporadically without a family connection, 20%–25% appear to be familial (including 10%–15% nonhereditary familial tumors [or familial tumors] and 5%–10% hereditary familial tumors [or hereditary tumors]). As nonhereditary and hereditary familial tumors often show both tumor-related and non-tumor-related (or syndromic) symptoms, they are referred to as tumor syndromes (or cancer susceptibility syndromes). In comparison with sporadic tumors/cancers, tumor syndromes (>300 described so far) tend to occur at a younger age, involve multiple organs and systems, produce multiple (often in a distinct spectrum) and bilateral lesions, form multiple hamartomatous, benign, or precursor lesions; locate in specific site(s), display unique syndromic features, and affect multiple members/generations of a family. This book provides state-of-art and authoritative coverage of nearly 100 tumor syndromes, with chapters presenting overviews of individual tumor syndromes in relation to their biology, epidemiology, pathogenesis, clinical features, diagnosis, treatment, and prognosis. Featuring contributions from oncologists, clinicians, and specialists, the book offers a reliable, comprehensive reference on tumor syndromes for scholars and students of medicine, dentistry, pharmacology, nursing, public health, and other biomedical disciplines. Key Features Reviews the biology, epidemiology, pathogenesis, and clinical features of tumor syndromes Contains up-to-date information on the diagnosis and treatment of tumor syndromes Includes expert coverage from leading oncologists and clinicians Related Titles J. R. McIntosh, Understanding Cancer: An Introduction to the Biology, Medicine, and Societal Implications of This Disease (ISBN 978-0-8153-4535-0) P. S. T. Shanmugam, Understanding Cancer Therapies (ISBN 978-1-1381-9815-9) J. M. Baehring and J. M. Piepmeier, eds., Brain Tumors: Practical Guide to Diagnosis and Treatment (ISBN 978-0-3673-9022-8) D. Liu, Tumors and Cancers: Endocrine Glands – Blood – Marrow – Lymph (ISBN 978-1-4987-2975-8) Dongyou Liu, PhD, has worked at several research and clinical laboratories in Australia and the United States for the past three decades, with a focus on molecular characterization of microbial pathogens and detection of human genetic disorders and tumors/cancers. He is the primary author of more than 50 original research and review articles in various peer-reviewed international journals, the contributor of 197 book chapters, and the editor of more than 10 books.

• Author : Robert A. McArthur,Franco Borsini
• Publisher : Academic Press
• Release Date : 2009-02-24
• Total pages : 432
• ISBN : 9780080920405
• File Size : 11,5 Mb
• Total Download : 122
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Download Animal and Translational Models for CNS Drug Discovery: Reward Deficit Disorders in PDF, Epub, and Kindle

Reward Deficit Disorders is written for researchers in both academia and the pharmaceutical industry who use animal models in research and development of drugs for reward deficit disorders such as alcohol dependence, nicotine dependence, heroin and cocaine addiction, obesity, and gambling and impulse control disorders. Reward Deficit Disorders has introductory chapters expressing the view of the role and relevance of animal models for drug discovery and development for the treatment of psychiatric disorders 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 each therapeutic area covered and discuss 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. Reward Deficit Disorders also has a section dedicated to the specifics of the regulatory aspects to abuse liability testing. 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. This is the third volume in the three volume-set, Animal and Translational Models for CNS Drug Discovery 978-0-12-373861-5, which is also available for purchase individually. 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 Neurological Disorders is available for purchase individually.

• Author : Suzanne B. Cassidy,Judith E. Allanson
• Publisher : John Wiley & Sons
• Release Date : 2010-05-13
• Total pages : 984
• ISBN : 9780470893142
• File Size : 19,9 Mb
• Total Download : 714
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Download Management of Genetic Syndromes in PDF, Epub, and Kindle

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

• Author : Robin M. Winter,Michael Baraitser
• Publisher : Springer
• Release Date : 2013-12-20
• Total pages : 1430
• ISBN : 9781489931092
• File Size : 32,8 Mb
• Total Download : 514
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Download Multiple Congenital Anomalies in PDF, Epub, and Kindle

The size of the problem, can be assessed This book is an off-shoot of the computerized from the following. Of 50 children bom, 1 London Dysmorphology Database which is now widely used by many geneticists and will have an easily detectable major malfor mation. Many of these will have a single dysmorphologists. Both the database and this malformation, but in the region of 8 in 1000 book have arisen out of a need to cope with the ever increasing nurober of multiple will have multiple abnormalities. This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and where infor mation can be found in the Iiterature. Indeed rest needing tobe diagnosed by other means. there are more than 2000 non-chromosomal It is to the diagnosis of this latter group that this book is dedicated. multiple malformation syndromes to which access is essential. If computerized databases have solved THE DIAGNOSIS OF DYSMORPHIC some of the problems, why is there a need SYNDROMES for this book? There are many physicians who do not have a desk computer or do not History feel at ease in using one. In addition geneticists are doing more satellite clinics and Before identifying the specific dysmorphic in some circumstances it would be more features, at least a three generation family history needs to be taken. It is necessary to convenient to carry a book than a computer.

• Author : Helga V. Toriello,Shelley D. Smith
• Publisher : Oxford University Press
• Release Date : 2013-06-20
• Total pages : 576
• ISBN : 9780199313884
• File Size : 34,5 Mb
• Total Download : 244
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Download Hereditary Hearing Loss and Its Syndromes in PDF, Epub, and Kindle

This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular diagnosis and on genetic susceptibility to ototoxic factors have been added. As in previous editions, the syndromes are grouped by system (visual, metabolic, cardiologic, neurologic, musculoskeletal, endocrine, etc.), with each chapter written by a recognized expert in the field. Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and for researchers in the hearing sciences.

• Author : Peter C. Hindmarsh
• Publisher : Karger Medical and Scientific Publishers
• Release Date : 1999
• Total pages : 170
• ISBN : 9783805567572
• File Size : 19,9 Mb
• Total Download : 331
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Download Current Indications for Growth Hormone Therapy in PDF, Epub, and Kindle

Breaking new ground in terms of scientific analysis, this book addresses the question of who benefits most from treatment with recombinant human growth hormone. Outlined at the beginning of this book are the principles of evidence-based medicine along with a critical appraisal of the statistical issues that lie at the center of growth hormone trials. Each chapter reviews the current state of knowledge on the use of growth hormone in conditions ranging from Turner syndrome through other syndromes of intrauterine growth retardation to the short normal child, also highlighting issues that remain to be addressed in further research. Evaluating therapies in terms of efficacy and safety or the health benefit for the individual or society as a whole are rarely approached in pediatric endocrinology and for this reason a special chapter on health economic evaluation is included. This book is of interest and offers practical help to pediatricians and endocrinologists.