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Advanced Treatment For 16p112 Deletion Syndrome
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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.
Book Synopsis Paroxysmal Movement Disorders by : Kapil D. Sethi
Download or read book Paroxysmal Movement Disorders written by Kapil D. Sethi and published by Springer Nature. This book was released on 2020-11-18 with total page 145 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book addresses the challenges in the differential diagnosis and management of paroxysmal movement disorders. It provides the latest information on the genetics and pathophysiology, neurophysiology and neuroimaging of the core group of disorders in the field, namely the paroxysmal dyskinesias (PxD). Focused and concise, this guide features chapters that discuss other conditions that may be paroxysmal such as, episodic ataxia, startle syndromes and other more complicated groups of paroxysmal movement disorders such as ATP1A3 spectrum disorders. A chapter on secondary (acquired) paroxysmal dyskinesia highlights medical and other disorders that may result in paroxysmal dyskinesia. The book features a particularly nuanced chapter that discusses recent discoveries in the genetic aspects of PxD, relaying that paroxysmal dyskinesias are not channelpathies, but in fact are synaptophies and transportopathies. Additionally, expertly written chapters are supplemented by high quality images, tables, and videos. Paroxysmal Movement Disorders: A Practical Guide is primarily written to educate the reader on how to make a syndromic diagnosis of paroxysmal movement disorders and how to build the diagnostic work-up accordingly, as well as how to manage patients with paroxysmal movement disorders.
Book Synopsis The SAGE Encyclopedia of Intellectual and Developmental Disorders by : Ellen Braaten
Download or read book The SAGE Encyclopedia of Intellectual and Developmental Disorders written by Ellen Braaten and published by SAGE Publications. This book was released on 2018-01-29 with total page 1928 pages. Available in PDF, EPUB and Kindle. Book excerpt: This encyclopedia provides an inter-disciplinary approach, discussing the sociocultural viewpoints, policy implications, educational applications and ethical issues involved in a wide range of disorders and interventions.
Book Synopsis Management of Genetic Syndromes by : Suzanne B. Cassidy
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
Book Synopsis Autism Spectrum Disorders by : Stephen Deutsch
Download or read book Autism Spectrum Disorders written by Stephen Deutsch and published by BoD – Books on Demand. This book was released on 2011-08-01 with total page 214 pages. Available in PDF, EPUB and Kindle. Book excerpt: Estimated prevalence rates of autism spectrum disorders (ASDs) have increased at an alarming rate over the past decade; current estimates stand as high as 1 in 110 persons in the population with a higher ratio of affected males to females. In addition to their emotional impact on the affected persons and their family members (in fact, the latter are often unrecognized unaffected “patients” themselves), the economic and social impacts of ASDs on society are staggering. Persons with ASDs will need interdisciplinary approaches to complex treatment and life planning, including, but not limited to, special education, speech and language therapy, vocational skills training and rehabilitation, social skills training and cognitive remediation, in addition to pharmacotherapy. The current book highlights some of the recent research on nosology, etiology, and pathophysiology. Additionally, the book touches on the implications of new research for treatment and genetic counseling. Importantly, because the field is advancing rapidly, no book can be considered the final word or finished product; thus, the availability of open access rapid publication is a mechanism that will help to assure that readers remain current and up-to-date.
Book Synopsis Bayesian Cognitive Modeling by : Michael D. Lee
Download or read book Bayesian Cognitive Modeling written by Michael D. Lee and published by Cambridge University Press. This book was released on 2014-04-03 with total page 279 pages. Available in PDF, EPUB and Kindle. Book excerpt: Bayesian inference has become a standard method of analysis in many fields of science. Students and researchers in experimental psychology and cognitive science, however, have failed to take full advantage of the new and exciting possibilities that the Bayesian approach affords. Ideal for teaching and self study, this book demonstrates how to do Bayesian modeling. Short, to-the-point chapters offer examples, exercises, and computer code (using WinBUGS or JAGS, and supported by Matlab and R), with additional support available online. No advance knowledge of statistics is required and, from the very start, readers are encouraged to apply and adjust Bayesian analyses by themselves. The book contains a series of chapters on parameter estimation and model selection, followed by detailed case studies from cognitive science. After working through this book, readers should be able to build their own Bayesian models, apply the models to their own data, and draw their own conclusions.
Book Synopsis The Genetics of Obesity by : Claude Bouchard
Download or read book The Genetics of Obesity written by Claude Bouchard and published by CRC Press. This book was released on 1994-03-28 with total page 262 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive compilation of the evidence available regarding the role of genetic differences in the etiology of human obesities and their health and metabolic implications. It also identifies the most promising research areas, methods, and strategies for use in future efforts to understand the genetic basis of obesities and their consequences on human health. Leading researchers in their respective fields present contributed chapters on such topics as etiology and the prevalence of obesities, nongenetic determinants of obesity and fat topography, and animal models and molecular biological technology used to delineate the genetic basis of human obesities. A major portion of the book is devoted to human genetic research and clinical observations encompassing adoption studies, twin studies, family studies, single gene effects, temporal trends and etiology heterogeneity, energy intake and food preference, energy expenditure, and susceptibility to metabolic derangements in the obese state. Future directions of research in the field are covered in the book as well.
Book Synopsis Assessment of Children by : Jerome M. Sattler
Download or read book Assessment of Children written by Jerome M. Sattler and published by Jerome M. Sattler Publisher. This book was released on 2001 with total page 968 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cette 4e édition propose des informations sur de l'évaluation du développement cognitif des enfants. Ce document, qui s'adresse tout spécialement aux futurs professionnels de l'évaluation qui devront utiliser, dans un cadre clinique ou de psycho-éducation, des instruments de mesure pour l'évaluation des enfants. Il décrit les lignes directrices pour comprendre les divers instruments d'évaluation du développement de l'enfant, pour les utiliser en conformité avec une éthique professionnelle, pour respecter les lois reliées au développement des enfants ayant une déficience, pour distinguer les échelles de mesure des aptitudes, les tests d'intelligence, les tests reliés au développement du langage ainsi que des considérations à retenir pour l'évaluation d'enfants en provenance de communautés ethno-culturelles.
Book Synopsis Principles of Psychiatric Genetics by : John I. Nurnberger
Download or read book Principles of Psychiatric Genetics written by John I. Nurnberger and published by Cambridge University Press. This book was released on 2012-09-13 with total page 415 pages. Available in PDF, EPUB and Kindle. Book excerpt: A comprehensive, up-to-date resource providing information about genetic influences on disorders of behavior.
Book Synopsis Population Neuroscience by : Tomas Paus
Download or read book Population Neuroscience written by Tomas Paus and published by Springer Science & Business Media. This book was released on 2013-03-23 with total page 198 pages. Available in PDF, EPUB and Kindle. Book excerpt: Is Newton’s brain different from Rembrandt’s? Does a mother’s diet during pregnancy impact brain growth? Do adolescent peers leave a signature in the social brain? Does the way we live in our middle years affect how our brains age? To answer these and many other questions, we can now turn to population neuroscience. Population neuroscience endeavors to identify environmental and genetic factors that shape the function and structure of the human brain; it uses the tools and knowledge of genetics (and the “omics” sciences), epidemiology and neuroscience. This text attempts to provide a bridge spanning these three disciplines so that their practitioners can communicate easily with each other when working together on large-scale imaging studies of the developing, mature and aging brain. By understanding the processes driving variations in brain function and structure across individuals, we will also be able to predict an individual’s risk of (or resilience against) developing a brain disorder. In the long term, the hope is that population neuroscience will lay the foundation for personalized preventive medicine and, in turn, reduce the burden associated with complex, chronic disorders of brain and body.
Book Synopsis Chromosome Abnormalities and Genetic Counseling by : R.J. MKinlay Gardner
Download or read book Chromosome Abnormalities and Genetic Counseling written by R.J. MKinlay Gardner and published by OUP USA. This book was released on 2012 with total page 650 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.
Book Synopsis Speech Motor Control by : Ben Maassen
Download or read book Speech Motor Control written by Ben Maassen and published by Oxford University Press. This book was released on 2010-02-25 with total page 398 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents the latest theoretical developments in the area of speech motor control, offering new insights by leading scientists and clinicians into speech disorders. The scope of this book is broad, presenting research in the areas of modelling, genetics, brain imaging, behavioral experimentation, and clinical applications.
Book Synopsis Personalized Food Intervention and Therapy for Autism Spectrum Disorder Management by : M. Mohamed Essa
Download or read book Personalized Food Intervention and Therapy for Autism Spectrum Disorder Management written by M. Mohamed Essa and published by Springer Nature. This book was released on 2020-01-31 with total page 700 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book focuses on implications of traditional and processed foods for autism spectrum disorder (ASD) intervention and management. Numerous phytonutrients and pharmacologically active compounds in edible natural products and diet could influence and offer protection to neuronal dysfunction that occurs due to ASD. The neuroprotective effects of various fruits, vegetables, nuts and seeds phytochemicals, and other natural bioactive ingredients against ASD and related conditions are discussed. Topics such as the possible neuroprotective mechanism of action of these foods and the therapeutic role of antioxidants in relation to ASD are addressed. This book also highlights the scope of using anti-inflammatory agents and antioxidants to promote neurogenesis and improve other symptoms in ASD. It emphasizes personalized nutritional approaches with dietary management of neurodevelopmental disorders/ASD cases. Information in this book is relevant to researchers in the field of complementary and alternative medicine, nutraceuticals, neuroscience, agriculture, nutrition, and food science. This volume is beneficial to students of varying levels, and across multiple disciplines.
Book Synopsis Iron Physiology and Pathophysiology in Humans by : Gregory J. Anderson
Download or read book Iron Physiology and Pathophysiology in Humans written by Gregory J. Anderson and published by Springer Science & Business Media. This book was released on 2012-01-14 with total page 705 pages. Available in PDF, EPUB and Kindle. Book excerpt: Iron Physiology and Pathophysiology in Humans provides health professionals in many areas of research and practice with the most up-to-date and well-referenced volume on the importance of iron as a nutrient and its role in health and disease. This important new volume is the benchmark in the complex area of interrelationships between the essentiality of iron, its functions throughout the body, including its critical role in erythropoiesis, the biochemistry and clinical relevance of iron-containing enzymes and other molecules involved in iron absorption, transport and metabolism, he importance of optimal iron status on immune function, and links between iron and the liver, heart, brain and other organs. Moreover, the interactions between genetic and environmental factors and the numerous co-morbidities seen with both iron deficiency and iron overload in at risk populations are clearly delineated so that students as well as practitioners can better understand the complexities of these interactions. Key features of the volume include an in-depth index and recommendations and practice guidelines are included in relevant chapters. The volume contains more than 100 detailed tables and informative figures and up-to-date references that provide the reader with excellent sources of information about the critical role of iron nutrition, optimal iron status and the adverse clinical consequences of altered iron homeostasis. Iron Physiology and Pathophysiology in Humans is an excellent new text as well as the most authoritative resource in the field.
Download or read book Genes and Obesity written by and published by Academic Press. This book was released on 2010-12-17 with total page 417 pages. Available in PDF, EPUB and Kindle. Book excerpt: A number of genes have been identified that are associated with an increased body mass index (BMI), the standard measurement of obesity. By analyzing these genes, researchers hope to gain a better understanding of what causes obesity and develop ways to tackle the problem. The study of genes and obesity could lead to new treatments. Genes and Obesity reviews the latest developments in the field. - This series provides a forum for discussion of new discoveries, approaches, and ideas - Contributions from leading scholars and industry experts - Reference guide for researchers involved in molecular biology and related fields
Book Synopsis Autism Spectrum Disorder by : Michael Fitzgerald
Download or read book Autism Spectrum Disorder written by Michael Fitzgerald and published by BoD – Books on Demand. This book was released on 2015-04-02 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Small Supernumerary Marker Chromosomes (sSMC) by : Thomas Liehr
Download or read book Small Supernumerary Marker Chromosomes (sSMC) written by Thomas Liehr and published by Springer Science & Business Media. This book was released on 2011-11-03 with total page 233 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.
