The Chromosome 22q112 Deletion Syndrome

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The Chromosome 22q11.2 Deletion Syndrome

Author : Donna M. McDonald-McGinn
Publisher : Academic Press
ISBN 13 : 0128160489
Total Pages : 526 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis The Chromosome 22q11.2 Deletion Syndrome by : Donna M. McDonald-McGinn

Download or read book The Chromosome 22q11.2 Deletion Syndrome written by Donna M. McDonald-McGinn and published by Academic Press. This book was released on 2022-08-19 with total page 526 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology, prognosis, and recurrence risk associated with the chromosome 22q11.2 deletion syndrome. Leading international contributors cover the background, genetics, testing methods, and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in every applicable subspecialty, such as, cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology, neurology, and psychiatry, among other fields. This book presents an authoritative resource with full color images that enhance concept illustration and aid in real-time decision-making. As 22q11.2 deletion syndrome has become a model for understanding rare and frequent anomalies, numerous medical issues, cognitive and behavioral phenotypes, and later onset conditions, this text will become the go to resource for clinicians, researchers, trainees, and motivated family members, in gaining a full understanding of this complex chromosomal disorder. Provides a complete description of 22q11.2 deletion syndrome for healthcare professionals, researchers, trainees, and families affected by this common condition Presents diagnostic and treatment strategies to help tackle this complex and often undiagnosed and therefore undertreated condition Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest clinical experience and research in the field Features leading international contributors in numerous sub-specialties, representing the multisystem nature of this condition Includes full color figures, flow charts, tables, and patient images to guide real-time decision-making

Secondary Schizophrenia

Author : Perminder S. Sachdev
Publisher : Cambridge University Press
ISBN 13 : 1139485229
Total Pages : pages
Book Rating : 4.1/5 (394 download)

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Book Synopsis Secondary Schizophrenia by : Perminder S. Sachdev

Download or read book Secondary Schizophrenia written by Perminder S. Sachdev and published by Cambridge University Press. This book was released on 2010-02-04 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Schizophrenia may not be a single disease, but the result of a diverse set of related conditions. Modern neuroscience is beginning to reveal some of the genetic and environmental underpinnings of schizophrenia; however, an approach less well travelled is to examine the medical disorders that produce symptoms resembling schizophrenia. This book is the first major attempt to bring together the diseases that produce what has been termed 'secondary schizophrenia'. International experts from diverse backgrounds ask the questions: does this medical disorder, or drug, or condition cause psychosis? If yes, does it resemble schizophrenia? What mechanisms form the basis of this relationship? What implications does this understanding have for aetiology and treatment? The answers are a feast for clinicians and researchers of psychosis and schizophrenia. They mark the next step in trying to meet the most important challenge to modern neuroscience – understanding and conquering this most mysterious of human diseases.

Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition

Author : Donna Cutler-Landsman
Publisher : Plural Publishing
ISBN 13 : 1635501717
Total Pages : 404 pages
Book Rating : 4.6/5 (355 download)

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Book Synopsis Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition by : Donna Cutler-Landsman

Download or read book Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition written by Donna Cutler-Landsman and published by Plural Publishing. This book was released on 2020-01-01 with total page 404 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 22q11.2 deletion syndrome, also known as velo-cardio-facial syndrome and DiGeorge syndrome, is relatively new. The genetic test to determine if a child has it has only been available since 1994. Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition, effectively blends the thoughtful research that has transpired within the past 25 years with practical and current educational strategies to better meet the needs of children with the 22q11.2 deletion syndrome and other developmental disabilities. With its expanded content, as well as new contributions from some of the most highly regarded experts in the field, Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition is an essential resource for teachers, parents, physicians, and therapists of children with this complicated learning profile. To first address the scientific information that is needed to understand the syndrome and the implications of current research, expert contributors present the results of current studies involving brain abnormalities, language/learning profiles, medical needs, and psychiatric and behavioral difficulties. These valuable chapters are written in a reader-friendly manner to help parents, professionals, and teachers gain useful and necessary comprehension of the unique characteristics of the 22q11.2DS population. The second part of the book is a practical guide to educating a child with 22q11.2DS from birth through adulthood. Divided into the various stages of development from preschool to adulthood, it includes information regarding the necessary tests special education teams should run, typical difficulties associated with learning, changes that occur with ability as the child matures, and behavioral problems in the school setting. New to the Third Edition: * Addition of recent research studies since 2012 * Current research and treatment options for mental health issues * Expanded and enhanced coverage of bullying and the social/emotional aspects of the syndrome * Discussion on the possibility of cognitive decline and how to address this at school * More information on Common Core State Standards and standardized testing for children with disabilities, including a section on understanding test scores * Homeschooling and other placement alternatives * Executive functioning deficits, their impact in the classroom, and approaches to use * Dealing with problem behaviors such as withdrawal and school refusal * Cognitive remediation and new treatment strategies * New math and reading remediation techniques * New options for programming and post-secondary placements

Etiology and Morphogenesis of Congenital Heart Disease

Author : Richard Van Praagh
Publisher : Wiley-Blackwell
ISBN 13 :
Total Pages : 580 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Etiology and Morphogenesis of Congenital Heart Disease by : Richard Van Praagh

Download or read book Etiology and Morphogenesis of Congenital Heart Disease written by Richard Van Praagh and published by Wiley-Blackwell. This book was released on 1980 with total page 580 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Psychiatric Genetics

Author : Jordan W. Smoller
Publisher : American Psychiatric Pub
ISBN 13 : 1585628794
Total Pages : 340 pages
Book Rating : 4.5/5 (856 download)

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Book Synopsis Psychiatric Genetics by : Jordan W. Smoller

Download or read book Psychiatric Genetics written by Jordan W. Smoller and published by American Psychiatric Pub. This book was released on 2009-02-20 with total page 340 pages. Available in PDF, EPUB and Kindle. Book excerpt: As more patients seek information about family risks of psychiatric illness -- an interest likely to increase as gene-identification studies are publicized -- most psychiatrists agree it is their role to discuss these issues but admit they are ill-prepared to do so. Psychiatric Genetics addresses that need as the first book to focus on clinical applications of genetics in psychiatry. It covers issues involved in genetic counseling, the interpretation of familial and genetic information for clinical use, information regarding risks associated with specific psychiatric disorders, risk/benefit considerations related to medication use during pregnancy, and the ethical and social implications of psychiatric genetic knowledge and research -- including the prospects for genetic testing. While other books have been written for the genetics community, this volume is addressed to practitioners: a clinically relevant resource that can help them understand the often bewildering flood of information about genetics -- information difficult to interpret, let alone integrate into practice -- and enable them to respond to patients' requests to predict the risk of recurrence of psychiatric illness or provide information about reproductive and pregnancy-related issues. Experts from psychiatry, genetic epidemiology, molecular genetics, genetic counseling, cognitive psychology, and ethics focus on issues that have received little attention elsewhere yet are of increasing importance to clinicians. Written at a level that assumes no particular expertise in genetics, the book features these immediately applicable benefits: It offers a framework for understanding and critically evaluating the psychiatric genetic research literature, enabling clinicians to better understand the meaning and limitations of genetic discoveries when patients raise questions about media reports. It provides a resource for clinicians who would like more information about the role and content of genetic counseling, outlining a typical counseling session while demonstrating how risks are estimated and discussed. It summarizes genetic aspects of major psychiatric conditions -- from childhood-onset disorders through psychotic, mood, and anxiety disorders to dementia -- as well as neuropsychiatric manifestations of other genetic disorders. It alerts clinicians to risk/benefit considerations related to medication use during pregnancy. It covers the ethical, legal, and social implications of genetic research and counseling, illustrating the dilemmas that arise with new advances. Whether used as a clinical guide, reference, or ancillary text, this book sets the standard for the application of psychiatric genetic knowledge in everyday practice. Psychiatrists, mental health clinicians, and genetic counselors will find it an essential resource for all patient encounters in which genetic issues arise.

Cassidy and Allanson's Management of Genetic Syndromes

Author : John C. Carey
Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.1/5 (194 download)

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Book Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey

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.

Missing Genetic Pieces

Author : Sherry Baker-Gomez
Publisher : Missing Genetic Pieces
ISBN 13 : 9780974535807
Total Pages : 580 pages
Book Rating : 4.5/5 (358 download)

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Book Synopsis Missing Genetic Pieces by : Sherry Baker-Gomez

Download or read book Missing Genetic Pieces written by Sherry Baker-Gomez and published by Missing Genetic Pieces. This book was released on 2004 with total page 580 pages. Available in PDF, EPUB and Kindle. Book excerpt: VCFS is also referred to as Velo Cardio Facial Syndrome, CHARGE Syndrome, Shprintzen Syndrome, DiGeorge Sequence, Pierre Robin Sequence, Potter Sequence.

Velo-Cardio-Facial Syndrome

Author : Kieran C. Murphy
Publisher : Cambridge University Press
ISBN 13 : 9781139443623
Total Pages : 264 pages
Book Rating : 4.4/5 (436 download)

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Book Synopsis Velo-Cardio-Facial Syndrome by : Kieran C. Murphy

Download or read book Velo-Cardio-Facial Syndrome written by Kieran C. Murphy and published by Cambridge University Press. This book was released on 2010-12-23 with total page 264 pages. Available in PDF, EPUB and Kindle. Book excerpt: Velo-Cardio-Facial Syndrome (VCFS) is a genetic disorder caused by the deletion of part of chromosome 22. It occurs in approximately one in 4000 births and there are now more than 100 physical phenotypic features reported. VCFS affects every major system in the body and this 2005 book was the first to describe its full clinical impact. It has been authored by leading international VCFS clinicians/researchers. The focus is on clinical issues with chapters devoted to psychiatric disorders (with the sufferer showing very high levels of schizophrenia), neuroimaging, speech and language disorders, as well as cardiac, ENT, gastrointestinal, ophthalmic and urological manifestations. Molecular genetics, immunodeficiency and genetic counselling are also covered, and practical approaches to diagnosis and treatment described. As VCFS is seen as a paradigm for other microdeletion disorders, this book will not just appeal to clinicians seeing VCFS patients, but also to those interested in other genetic disorders.

Cardioskeletal Myopathies in Children and Young Adults

Author : John Lynn Jefferies
Publisher : Academic Press
ISBN 13 : 0128005807
Total Pages : 422 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Cardioskeletal Myopathies in Children and Young Adults by : John Lynn Jefferies

Download or read book Cardioskeletal Myopathies in Children and Young Adults written by John Lynn Jefferies and published by Academic Press. This book was released on 2016-10-22 with total page 422 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cardioskeletal Myopathies in Children and Young Adults focuses on plaques that kill people in their 40’s-50’s and the way they start to form in young adulthood. The Annals of Family Medicine report that approximately half of young adults have at least one cardiovascular disease risk factor (Mar 2010), and an increase in cardiovascular mortality rates in young adults was substantiated in a study at Northwestern Medicine (Nov 2011). Given the increasing recognition of genetic triggers behind all types of cardiovascular disease, and the growing population of young adults with primary or acquired myocardial disease, the need has arisen for a reference that offers a comprehensive approach to the understanding of basic, translational, and clinical aspects of specific muscle diseases while making the link between young adult and adult health. Reveals the link between cardiac muscle disease and skeletal muscle disease Explains how genetics and environmental factors effect muscle function of diverse origins Designates current and novel therapeutic strategies that target both cardiac and skeletal muscle systems

Sleep and Affect

Author : Kimberly Babson
Publisher : Academic Press
ISBN 13 : 0124172008
Total Pages : 532 pages
Book Rating : 4.1/5 (241 download)

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Book Synopsis Sleep and Affect by : Kimberly Babson

Download or read book Sleep and Affect written by Kimberly Babson and published by Academic Press. This book was released on 2015-01-21 with total page 532 pages. Available in PDF, EPUB and Kindle. Book excerpt: Sleep and Affect: Assessment, Theory, and Clinical Implications synthesizes affective neuroscience research as it relates to sleep psychology and medicine. Evidence is provided that normal sleep plays an emotional regulatory role in healthy humans. The book investigates interactions of sleep with both negative and positive emotions, along with their clinical implications. Sleep research is discussed from a neurobiological, cognitive, and behavioral approach. Sleep and emotions are explored across the spectrum of mental health from normal mood and sleep to the pathological extremes. The book, additionally, offers researchers a guide to methods and research design for studying sleep and affect. This book will be of use to sleep researchers, affective neuroscientists, and clinical psychologists in order to better understand the impact of emotion on sleep as well as the effect of sleep on physical and mental well-being. Contains neurobiological, cognitive, and behavioral approaches Explains methods for examining sleep and affect Summarizes research on sleep and specific affect states Translates research for clinical use in treating disorders

Genomic Disorders

Author : James R. Lupski
Publisher : Springer Science & Business Media
ISBN 13 : 1597450391
Total Pages : 419 pages
Book Rating : 4.5/5 (974 download)

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Book Synopsis Genomic Disorders by : James R. Lupski

Download or read book Genomic Disorders written by James R. Lupski and published by Springer Science & Business Media. This book was released on 2007-11-10 with total page 419 pages. Available in PDF, EPUB and Kindle. Book excerpt: A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Pediatric Immunology

Author : Nima Rezaei
Publisher : Springer Nature
ISBN 13 : 3030212629
Total Pages : 822 pages
Book Rating : 4.0/5 (32 download)

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Book Synopsis Pediatric Immunology by : Nima Rezaei

Download or read book Pediatric Immunology written by Nima Rezaei and published by Springer Nature. This book was released on 2019-10-08 with total page 822 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book comprises a collection of categorized case-based questions, directed and meticulously selected to cover the most common and most important aspects of immunodeficiency diseases. Immunodeficiency disorders of infancy and childhood such as antibody deficiencies, phagocyte defects and defects in innate immunity are addressed among others. Each chapters starts with a brief of the initial presentation and lab data of the patient, followed by a series of 5-6 multiple choice questions (MCQs), leading the reader to the diagnosis and best of practice in a step-wise manner. This MCQ format along with precise, yet detailed answer ensures a quick, case-based, reality learning to the reader. This comprehensive MCQ series, is an essential reading material that a pediatric clinician, hematologist, immunologist, transplant specialist, or pulmonologist, can not afford to miss.

Handbook of Pragmatic Language Disorders

Author : Louise Cummings
Publisher : Springer Nature
ISBN 13 : 3030749851
Total Pages : 729 pages
Book Rating : 4.0/5 (37 download)

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Book Synopsis Handbook of Pragmatic Language Disorders by : Louise Cummings

Download or read book Handbook of Pragmatic Language Disorders written by Louise Cummings and published by Springer Nature. This book was released on 2021-09-22 with total page 729 pages. Available in PDF, EPUB and Kindle. Book excerpt: This reference work is the first to examine pragmatic language disorders of clients in complex and underserved populations. In chapters written by a range of experts, the unique pragmatic language skills of clients are examined, allowing for a broad overview. The text gives focus to client groups with complex cognitive and psychiatric problems and children and adults that have been underserved by clinical language services because of maltreatment and social exclusion. Pragmatic disorders are examined in children with sensory loss, children who have been exposed to HIV and substance abuse, and adults with Huntington's disease and other complex neurodegenerative pathologies. This Handbook is an essential reference for researchers and clinicians in speech-language pathology, linguistics, psychology, and education.

Genetic Counseling Practice

Author : Bonnie S. LeRoy
Publisher : John Wiley & Sons
ISBN 13 : 1119529859
Total Pages : 416 pages
Book Rating : 4.1/5 (195 download)

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Book Synopsis Genetic Counseling Practice by : Bonnie S. LeRoy

Download or read book Genetic Counseling Practice written by Bonnie S. LeRoy and published by John Wiley & Sons. This book was released on 2020-11-16 with total page 416 pages. Available in PDF, EPUB and Kindle. Book excerpt: The second edition of Genetic Counseling Practice: Advanced Concepts and Skills, provides in-depth content regarding the advanced competencies for meeting patient needs across the changing landscape of genetic counseling practice. The content aligns with the Reciprocal Engagement Model (REM) of practice which integrates the biomedical knowledge and psychosocial aspects of genetic counseling. This edition has been revised and expanded to reflect advances made in the present-day field. Edited by a team two genetic counselors and a psychologist, the chapters offer a holistic picture of genetic counseling. Chapter authors are all recognized experts in the profession. The chapters are grounded in evidence-based practice and research. Each chapter includes learning activities to help readers apply concepts and skills. Featured topic areas include: Meeting the needs of culturally diverse patients Addressing challenging patient dynamics Working with children, adolescents and families Using emerging service delivery models for genetic counseling Engaging in self-reflective, deliberate practice Promoting genetic counselor professional development Genetic Counseling Practice is an indispensable guide to the complex and evolving field of genetic counseling, and this updated second edition will help practitioners and trainees alike navigate its most pressing and practical challenges with skill and care.

Congenital Heart Diseases: The Broken Heart

Author : Silke Rickert-Sperling
Publisher : Springer
ISBN 13 : 3709118832
Total Pages : 745 pages
Book Rating : 4.7/5 (91 download)

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Book Synopsis Congenital Heart Diseases: The Broken Heart by : Silke Rickert-Sperling

Download or read book Congenital Heart Diseases: The Broken Heart written by Silke Rickert-Sperling and published by Springer. This book was released on 2015-12-18 with total page 745 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides comprehensive insights into congenital heart disease from embryonic development through to clinical features, including human genetics and our current knowledge of the underlying molecular pathways. It is divided into three parts: an introduction to the development of the heart and its vessels, an overview of the molecular pathways affecting the development of various cardiovascular structures, and a main section focusing on the different types of structural and nonstructural congenital heart diseases, including their clinical features, underlying genetic alterations and related animal models and pathways. Taken together these chapters, which were written by and for clinicians and researchers, provide an integrated and cutting-edge resource for all those who want to learn more about both the clinical aspects and the genetic and molecular basis of congenital heart disease.

Principles of Developmental Genetics

Author : Sally A. Moody
Publisher : Elsevier
ISBN 13 : 0080550711
Total Pages : 1094 pages
Book Rating : 4.0/5 (85 download)

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Book Synopsis Principles of Developmental Genetics by : Sally A. Moody

Download or read book Principles of Developmental Genetics written by Sally A. Moody and published by Elsevier. This book was released on 2007-07-19 with total page 1094 pages. Available in PDF, EPUB and Kindle. Book excerpt: Unlike anything currently available in the market, Dr. Sally A. Moody and a team of world-renowned experts provide a groundbreaking view of developmental genetics that will influence scientific approaches in embryology, comparative biology, as well as the newly emerging fields of stem cell biology and regenerative medicine. Principles of Developmental Genetics highlights the intersection of developmental biology with new revolutionary genomic technologies, and details how these advances have accelerated our understanding of the molecular genetic processes that regulates development. This definitive resource provides researchers with the opportunity to gain important insights into the clinical applicability of emerging new technologies and animal model data. This book is a must-have for all researchers in genetics, developmental biology, regenerative medicine, and stem cell biology. • Includes new research not previously published in any other book on the molecular genetic processes that regulates development • Chapters present a broad understanding on the application of animal model systems, allowing researchers to better treat clinical disorders and comprehend human development • Relates the application of new technologies to the manipulation of stem cells, causes of human birth defects, and several human disease conditions • Each chapter includes a bulleted summary highlighting clinical aspects of animal models

Paediatric Cardiology

Author : Robert H. Anderson
Publisher : Elsevier Health Sciences
ISBN 13 : 0702037354
Total Pages : 1344 pages
Book Rating : 4.7/5 (2 download)

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Book Synopsis Paediatric Cardiology by : Robert H. Anderson

Download or read book Paediatric Cardiology written by Robert H. Anderson and published by Elsevier Health Sciences. This book was released on 2009-09-25 with total page 1344 pages. Available in PDF, EPUB and Kindle. Book excerpt: As patients live longer and need to be treated over the long term and the management of pediatric cardiology problems and congenital heart disease moves more into the mainstream, turn to Pediatric Cardiology for current clinical guidance. Trust Dr. Robert Anderson, godfather of cardiac morphology, to bring you coverage of potential cardiovascular anomalies, all potential diseases related to anomalies or developmental problems, and methods for management and treatment. New contributors from all over the world-including 70% new to this edition-present the latest challenges in the field and emphasize the adolescent and post-operative outcomes for management. Now, in full color, this leading reference offers you everything you need to treat and manage pediatric heart conditions. A comprehensive and exhaustive reference of fundamental and clinical aspects of heart disease in infancy and childhood. The contributors are well-known experts in the field and the editors are a world class group who have published extensively in the field. Emphasizes the treatment of corrected congenital heart disease for coverage of the clinical management of cardiac problems in the adolescent and young adult. Integrates development in chapters on lesions to make physiology clinically relevant for the specific cardiac lesions. Provides the latest clinical perspectives on neonate cardiac development management issues so you can offer the best long-term care. Presents the contributions of 70% new authors, from all over the world, in a consistent format to make referencing global perspectives quick and easy. Captures the nuances of the anatomical structure of lesions through full-color illustrations depicting morphologic, congenital, and surgically corrected examples for exceptional visual guidance.