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Genomic Disorders

Genomic Disorders
  • Author : James R. Lupski,Pawel T. Stankiewicz
  • Publisher :Unknown
  • Release Date :2007-11-10
  • Total pages :426
  • ISBN : 9781597450393
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Summary : 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.

The 22q11. 2 Chromosome Deletion Syndrome

The 22q11. 2 Chromosome Deletion Syndrome
  • Author : Donna M. McDonald-McGinn
  • Publisher :Unknown
  • Release Date :2020-03
  • Total pages :424
  • ISBN : 0128160470
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Summary : The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the diagnosis, treatment and patient aspects of this 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 cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology and neurology, among other fields, this book presents an authoritative resource with full color figures, flow charts and tables that enhance concept illustration and aid in real-time decision-making. As 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, this book will help researchers, clinicians and advanced students gain a full understanding of how to diagnosis and treat rare genetic diseases. Provides a comprehensive description of 22q11.2DS syndrome for healthcare professionals, researchers and students Presents diagnostic and treatment strategies to help tackle this complex and often misdiagnosed and undertreated syndrome Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest research in the field Features leading international contributors in various sub-specialties, representing the many body systems affected by this syndrome Includes full color figures, flow charts and tables to guide real-time decision-making

Psychiatric Genetics

Psychiatric Genetics
  • Author : Jordan W. Smoller,Beth Rosen Sheidley,Ming T. Tsuang
  • Publisher :Unknown
  • Release Date :2008
  • Total pages :323
  • ISBN : 1585622060
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Summary : "The book first presents a framework for understanding and critically evaluating psychiatric genetic research literature, then provides guidelines for genetic counseling. Subsequent chapters summarize genetic aspects of major psychiatric conditions - as well as neuropsychiatric manifestations of other genetic disorders. Risk/benefit considerations related to medication use during pregnancy are then presented. Coverage of ethical, legal, and social implications illustrates the dilemmas that arise with advances in genetic research. Whether used as a clinical guide, reference, or ancillary text, Psychiatric Genetics provides the most up-to-date source on the impact of this growing field on everyday psychiatric practice."--BOOK JACKET.

Velo-Cardio-Facial Syndrome

Velo-Cardio-Facial Syndrome
  • Author : Kieran C. Murphy,Peter J. Scambler
  • Publisher :Unknown
  • Release Date :2005-06-30
  • Total pages :229
  • ISBN : 1139443623
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Summary : 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.

Behavioural Phenotypes

Behavioural Phenotypes
  • Author : Gregory O'Brien,William Yule
  • Publisher :Unknown
  • Release Date :1995
  • Total pages :211
  • ISBN : 1898683069
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Summary : It has long been recognized that people with identifiable congenital causes of developmental disabilities display peculiar patterns of behavior and temperament. An explosion of new information in the field of so-called behavioral genetics has precipitated a need for a book describing behaviorial phenotypes. The book consists of three parts: Part I opens with an account of the evolution of behaviorial genetics in developmental disability. The second part covers measurement and research methodology and includes chapters on various types of self-injurious behavior that occur in different phenotypes and a chapter on Fragile X--a model for inquiry into behavioral phenotypes. The sections on genetic analysis are particularly useful to clinicians who are unfamiliar with contemporary genetic techniques. Part III summarizes behavioral phenotypes of over thirty biologically distinct conditions.

Autism and Other Neurodevelopmental Disorders

Autism and Other Neurodevelopmental Disorders
  • Author : Robin L. Hansen,Sally J. Rogers
  • Publisher :Unknown
  • Release Date :2013
  • Total pages :306
  • ISBN : 9781585624256
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Summary : Autism and Other Neurodevelopmental Disorders gathers and organizes the most recent information in this important and rapidly expanding field into a clinically useful volume that will enable clinicians, patients, and families to understand these disorders and make sound treatment decisions in light of recent research. The editors, as well as most of the chapter authors, are faculty or former trainees at the prestigious Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis, a collaborative international research center committed to the awareness, understanding, prevention, care, and cure of neurodevelopmental disorders, including autism spectrum disorders, ADHD, learning disorders, and more. Each chapter presents signs and symptoms; epidemiology and etiology; diagnostic approaches; evidence based interventions; and reviews of promising research. By focusing on the range of neurodevelopmental disorders commonly seen and managed by both primary and subspecialist health care professionals. Autism and Other Neurodevelopmental Disorders explains cutting-edge research and advances in clinical care, and assembles them into a single, indispensable volume.

Autism Spectrum Disorder

Autism Spectrum Disorder
  • Author : Michael Fitzgerald
  • Publisher :Unknown
  • Release Date :2015-04-02
  • Total pages :378
  • ISBN : 9789535120377
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Summary : This book starts with a new sub category of Autism Criminal Autistic Psychopathy and school shootings. It focuses on a number of interventions, including speech and language pathology, speech and language assessment instruments, occupational therapy, improving functional language development in autism with natural gestures, communication boards etc as well as helping people with autism using the pictorial support, training of concepts of significant others, theory of mind, social concepts and a conceptual model for empowering families of children with autism cross culturally. It also examines the issue of hyperandrogenism and evidence-based treatments of autism. In terms of assessment, it focuses on psychological and biological assessment including neurotransmitters systems, structural and functional brain imaging, coping strategies of parents, examines the intertwining of language impairment, specific language impairment and ASD, as well as implicit and spontaneous Theory of Mind reading in ASD. In terms of aetiology, it focuses on genetic factors, epigenetics, synaptic vesicles, toxicity during neurodevelopment, immune system and sex differences. It also examines the link between social cognitive anatomical and neurophysiologic biomarkers and candidate genes. This book will be relevant to all mental health professionals because autism occurs in all the different areas of psychiatry and professionals who will find it helpful will be psychiatrists, psychologists, social workers, nurses, teachers and all those working with persons with Autism including parents who nowadays are interested in knowing more and more, at a detailed level about their children or adults with autism.

Secondary Schizophrenia

Secondary Schizophrenia
  • Author : Perminder S. Sachdev,Matcheri S. Keshavan
  • Publisher :Unknown
  • Release Date :2010-02-04
  • Total pages :229
  • ISBN : 9781139485227
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Summary : 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.

Genetics of Developmental Disabilities

Genetics of Developmental Disabilities
  • Author : Merlin Butler,F. John Meaney
  • Publisher :Unknown
  • Release Date :2019-06-13
  • Total pages :886
  • ISBN : 9780429559105
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Summary : Published in 2005: Genetics of Developmental Disabilities is written as a textbook and resource for physicians, basic and clinical researchers, and other professionals, students, and health care providers. Those interested in the causes and scientific understanding of developmental disabilities.

Management of Genetic Syndromes

Management of Genetic Syndromes
  • Author : Suzanne B. Cassidy,Judith E. Allanson
  • Publisher :Unknown
  • Release Date :2011-09-20
  • Total pages :984
  • ISBN : 9781118210673
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Summary : 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

Pediatric Immunology

Pediatric Immunology
  • Author : Nima Rezaei
  • Publisher :Unknown
  • Release Date :2019-10-08
  • Total pages :822
  • ISBN : 9783030212629
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Summary : 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.

DiGeorge Syndrome: New Insights for the Healthcare Professional: 2011 Edition

DiGeorge Syndrome: New Insights for the Healthcare Professional: 2011 Edition
  • Author : Anonim
  • Publisher :Unknown
  • Release Date :2012-01-09
  • Total pages :17
  • ISBN : 9781464915703
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Summary : DiGeorge Syndrome: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about DiGeorge Syndrome in a compact format. The editors have built DiGeorge Syndrome: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about DiGeorge 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 DiGeorge Syndrome: New Insights for the Healthcare Professional: 2011 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/.

Human Chromosomes

Human Chromosomes
  • Author : Orlando J. Miller,Eeva Therman
  • Publisher :Unknown
  • Release Date :2011-06-28
  • Total pages :501
  • ISBN : 9781461301394
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Summary : The fourth edition of this well-known text provides students, researchers and technicians in the area of medicine, genetics and cell biology with a concise, understandable introduction to the structure and behavior of human chromosomes. This new edition continues to cover both basic and up-to-date material on normal and defective chromosomes, yet is particularly strengthened by the complete revision of the material on the molecular genetics of chromosomes and chromosomal defects. The mapping and molecular analysis of chromosomes is one of the most exciting and active areas of modern biomedical research, and this book will be invaluable to scientists, students, technicians and physicians with an interest in the function and dysfunction of chromosomes.

Autism Diagnostic Observation Schedule

Autism Diagnostic Observation Schedule
  • Author : Catherine Lord
  • Publisher :Unknown
  • Release Date :2002
  • Total pages :140
  • ISBN : OCLC:70067499
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Summary :

Pediatric Neuropsychiatry

Pediatric Neuropsychiatry
  • Author : Aaron J. Hauptman,Jay A. Salpekar
  • Publisher :Unknown
  • Release Date :2018-10-26
  • Total pages :326
  • ISBN : 9783319949987
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Summary : Adult neuropsychiatry is now a well-established field with numerous reputable references. Practitioners who work with children routinely note how references and practitioners knowledgeable in the equivalent work in the pediatric world are rare. Child psychiatrists and neurologists frequently work with individuals struggling with these conditions and would strongly benefit from such a reference that incorporates medical work-up, psychopharmacological recommendations, family/support recommendations and theoretical pathophysiology. Pediatricians and developmental pediatricians often treat children with behavioral and neuropsychiatric sequelae, but are not well-trained in the neuropsychiatric management of these cases. Neuropsychologists and educational psychologists working with children and adults with pediatric-onset conditions will also find the text helpful to contextualize their cases, better-understand the medical evaluation and management and perhaps adjust recommendations that would supplement their own testing methods. Finally, sub-specialists in adult neurology, psychiatry and neuropsychiatry often find themselves working with these children by default as there are few pediatric subspecialists who are available to accept them into practice. When facing complex neuropsychiatric illness in children, many clinicians are stymied because they may have “never seen a case like that”. This text fills the wide gap that currently exists and helps move this field forward. The approach utilized in adult neuropsychiatry that is both clear and accessible does not yet have an equivalent in the pediatric realm, but there is tremendous interest in its development. Children and adolescents with neuropsychiatric conditions are very common and they and their caregivers often struggle to find professionals well educated in this field. Ultimately, a wide range of clinicians will find this text to be a very helpful resource for diagnosis and management in the spectrum of pediatric neuropsychiatric conditions. The case-based approach is also unique with respect to neuropsychiatric approaches, and the clear cut, reader-friendly approach of such a format would likely be well-received among physicians looking for a resource on this issue.

Genetics of Mental Retardation

Genetics of Mental Retardation
  • Author : S.J.L. Knight
  • Publisher :Unknown
  • Release Date :2010-02-15
  • Total pages :178
  • ISBN : 9783805592819
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Summary : This remarkable publication focuses on the importance of genetics in mental retardation, investigating the extent to which molecular diagnostic capability and the understanding of genetic causes have improved over recent years. As a result, clinical evaluation and diagnostic laboratory practice are now undergoing an unprecedented period of change.In a single volume, a unique combination of key individuals and world-class clinical, diagnostic and research-based experts share specialized, state-of the-art knowledge in this field. The parents’ perspective lies behind chapters dealing with issues such as:- Classification nomenclature- Well-known syndromes- How modern technologies have resulted in newly identified syndromes- How genome architecture can influence disease- Guidelines for clinical evaluation- Valuable database resources for clinical, diagnostic and research departments- Challenges involved in data interpretation and determining clinical relevance- Genetic overlaps with autism and schizophrenia- Processes of health service implementationGenetics of Mental Retardation is an invaluable resource for researchers and students with an active interest in the field. Furthermore, consultants and trainees in clinical genetics and pediatrics, and researchers working in clinical genetics laboratories will benefit from these reviews.

Congenital Anomalies

Congenital Anomalies
  • Author : Stefania Tudorache
  • Publisher :Unknown
  • Release Date :2018-05-02
  • Total pages :544
  • ISBN : 9781789231144
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Summary : Nowadays, nobody can imagine practicing obstetrics without using obstetrical ultrasound. Working in the prenatal diagnosis field requires dedication, patience, skills, experience, caution, and empathy. The concept of this book was guided by the desire to provide some help to the ultrasound operators. On a daily basis, they are confronted with the challenging task of ruling out or suspecting/confirming the diagnosis of fetal anomalies, either structural or chromosomal. The chapters of this book contain objective and exhaustive updated reviews of the pertinent literature, so that the reader would have a wide reference basis on each subject. Yet, many authors scan the fetus themselves or are directly involved with managing pregnancies with structural malformations or chromosomal anomalies. They kindly shared their personal experience and lessons learned over the years. This book is beneficial for all the professionals working in the prenatal diagnosis.

Velo-Cardio-Facial Syndrome Volume 2

Velo-Cardio-Facial Syndrome Volume 2
  • Author : Karen J. Golding-Kushner,Robert J. Shprintzen
  • Publisher :Unknown
  • Release Date :2011-04-01
  • Total pages :256
  • ISBN : 9781597567367
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Summary :

Developmental Disabilities

Developmental Disabilities
  • Author : Ahmad Salehi
  • Publisher :Unknown
  • Release Date :2013-07-10
  • Total pages :154
  • ISBN : 9789535111771
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Summary : Although various developmental disabilities affecting children and adults might have different pathogeneses, underlying mechanisms, and clinical presentations, the current books emphasizes the fact that there are numerous commonalities in methods of understanding, clinical diagnosis, and handling of behavioral abnormalities in affected individuals. For instance, understanding sexual maturation and its consequences in people with intellectual disability would certainly present a path to better understanding of the differences with controls and more effective handling of the unwanted consequences in people affected.

Heart Development

Heart Development
  • Author : Richard A. Harvey,Richard P. Harvey,Richard A Harvey, PhD,Nadia Rosenthal
  • Publisher :Unknown
  • Release Date :1999
  • Total pages :530
  • ISBN : 0123298601
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Summary : This book examines recent studies revealing that the same genes are responsible for development of parallel features between species, and that the heart develops similarly across all species. It includes research being conducted concerning cardiac development, tissue interaction, and organ formation. The text attempts to provide a greater understanding of the underlying causes of heart failure, heart muscle diseases, congenital malformations, and other heart diseases and defects. Key Features * Each chapter has been solicited from a recognized leader in the field, and covers a topic of active research in cardiovascular biology * Chapters incorporate a review of classical findings with comprehensive coverage of the latest advances * Abundant color plates in a consistent and professional artistic style provide clear and attractive illustrations of central concepts * Color slides of illustrations for seminars or teaching purposes are available with each volume

Prospective Memory in Clinical Populations

Prospective Memory in Clinical Populations
  • Author : Sarah A. Raskin
  • Publisher :Unknown
  • Release Date :2020-09-11
  • Total pages :308
  • ISBN : 9781000080483
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Summary : Prospective memory has emerged as an important aspect of episodic memory. Prospective memory involves remembering to complete a previously formed intention. Successful prospective memory performance is important in daily life tasks such as taking medications or paying bills and has been related to compliance with treatment. Prospective memory has now been studied in many clinical populations as well as across the lifespan. Although prospective memory is recognized as an important aspect of daily life, there has been only limited crossover from the research literature to clinical practice. The wealth of research findings need to be translated to evidence-based clinical approaches that are uniquely tailored to individual populations. Each chapter of Prospective Memory in Clinical Populations covers current knowledge of prospective memory deficits in a population; approaches to clinical assessment; any published evidence-based approaches to treatment; and suggestions for management. This book was originally published as a special issue of The Clinical Neuropsychologist.