Download or read book Advances in Research on Down Syndrome written by Subrata Dey and published by BoD – Books on Demand. This book was released on 2018-01-31 with total page 150 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a concise yet comprehensive source of current information on Down syndrome. It focuses on exciting areas of research on chromosome editing, neurogenomics and diseases associated with Down syndrome. Research workers, scientists, medical graduates and physicians will find this book as an excellent source for consultation and references. Key features of this book are chromosome engineering in Down syndrome, mental retardation and cognitive disability, prenatal diagnosis and diseases associated with Down syndrome. Although aimed primarily for research workers on Down syndrome, we hope that the appeal of this book will extend beyond the narrow confines of academic interest and be exciting to wider audience, especially parents, relatives and health care providers who work with infants and children with Down syndrome.
Download or read book Advances in Research on Down Syndrome written by Subrata Dey and published by . This book was released on 2018 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Advances in Down Syndrome Research written by Gert Lubec and published by Springer Science & Business Media. This book was released on 2013-03-13 with total page 241 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Advances in Down Syndrome Research” represents updated research in several areas of Down Syndrome (DS). A new promising animal model of DS is reported and this opens new opportunities to study pathomechanisms and pharmacological approaches as it is more than difficult to carry out studies in humans and the clinical features are highly variable. In terms of biology, cell cycle and stem cell studies and in terms of biochemistry, relevance of studies on a specific protein kinase, channels, transporters, superoxide dismutase, antioxidant system, chromosome assembly factor and other important biological structures are provided. And again, the gene dosage hypothesis is addressed and although the vast majority of chromosome 21 gene products is unchanged in fetal DS brain, a few specific chromosome 21 encoded structures including transcription factors are indeed overexpressed although findings in fetal DS are different from those in adult DS brain when Alzheimer-like neuropathology supervenes.
Download or read book Recent Advances in Research on Down Syndrome written by Poulami Majumder and published by . This book was released on 2015 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Down syndrome (DS) or trisomy 21 is one of the most important genetic causes of mental retardation. Sincere and significant attempts have been made towards understanding the congenital diseases that affect DS patients. Better understanding of gene networks associated with such malformations will help to predict the complex genetic trait behind congenital disease in DS and will also provide the basis for tailored gene therapies that could begin to heal or prevent such malformation without the need to resort to invasive surgery. Further, susceptible mutation screening in women will also be helpful for both prenatal diagnosis of DS birth and assessing the risk of predisposition to Alzheimer's disease and congenital heart disease. Stress condition and neurodegeneration are two important markers in Down syndrome patients and mtDNA variation can also be used as an important biomarker. It has been suggested that nutraceuticals which reduce reactive oxygen species (ROS) level may be used to treat trisomy 21 condition. As mitochondria play a crucial role in the regulation of free radicals, only a detail analysis will reveal the origin of phenotypic characteristics among trisomy 21 DS patients. On the other hand, several mechanisms are responsible for neurodegeneration as well as altered cognition. It includes impaired neurogenesis leading to hypocellularity in the cortex, hippocampus and cerebellum, altered dendritic morphology, altered synapses, increased inhibition and neurodegeneration. The new knowledge of the pathogenic mechanisms in DS individuals has been acquired from mouse model. These studies provide the basis for developing new drugs for clinical trials in DS individuals and to sustain the hope that some of these drugs will be useful in treating intellectual disability in DS individuals.
Download or read book Down Syndrome From Understanding the Neurobiology to Therapy written by and published by Elsevier. This book was released on 2012-10-16 with total page 273 pages. Available in PDF, EPUB and Kindle. Book excerpt: Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system. This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brain, network genetics, engineered mouse models and applications to human and mouse behavioral and cognitive phenotypes. It brings together scientists of diverse backgrounds, by facilitating the integration of research directed at different levels of biological organization, and by highlighting translational research and the application of the existing scientific knowledge to develop improved DS treatments and cures. Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future research Chapters are extensively referenced to provide readers with a comprehensive list of resources on the topics covered All chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist
Download or read book Preclinical Research in Down Syndrome Insights for Pathophysiology and Treatments written by and published by Academic Press. This book was released on 2020-02-10 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preclinical Research in Down Syndrome: From Bench to Bedside, Volume 251, the latest release in the Progress in Brain Research series, highlights new advances in the field. Chapters in this updated release include Exploring genetic and epigenetic mechanisms underlying cognitive deficits in Dow syndrome, The trisomy paradox: gene expression dysregulation domains, the Influence of allelic differences in mouse models of Down syndrome, Modelling Down syndrome in cells: From stem cells to organoids, Modelling Down syndrome in animals from the early stage to the new generation of models, Mapping behavioral landscapes in Down syndrome animal models, and more. Presents content by renowned authors who review the state-of-the-art in preclinical research and provide their views and perspectives for the future of the field Provides extensively referenced chapters, thus giving readers a comprehensive list of resources on topics covered Includes comprehensive and in-depth background information written in a clear form that is accessible to both specialists and non-specialists
Download or read book Down Syndrome written by Ira T. Lott and published by Wiley. This book was released on 1992-05-04 with total page 212 pages. Available in PDF, EPUB and Kindle. Book excerpt: Focuses entirely on health care of people with Down Syndrome throughout their life span, from birth to old age. With the remarkable strides that have been made in research and medicine in the past decade, people with Down Syndrome are living longer and healthier lives and are actively participating in all aspects of community life. Health care is a critical factor in this process. The first section explores the genetic basis for Down Syndrome as well as discusses speech and language development in children; the second section highlights clinical advances in treatment.
Download or read book Recent Developments in Down Syndrome written by David Rhodes and published by . This book was released on 2015-01-10 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is an up-to-date handbook in understanding congenital disorders. It enlists state-of-the-art research and analysis on Down Syndrome. Down syndrome is a genetic syndrome involving presence of a third chromosome 21 causing delayed physical growth and sometimes intellectual growth as well. Medical experts, students and professionals will alike find this text extremely handy in their respective fields and they will be able to use this book as a ready reference in their work. The salient characteristics of this book include the common diseases caused by this condition and sheds light on prenatal diagnosis. While it focuses mainly on research work, the utility of this book goes beyond the horizons of academics. It will appeal to an even broader spectrum of readers including families and caretakers of those affected by Down syndrome.
Download or read book Down Syndrome written by Terry J. Hassold and published by Wiley-Liss. This book was released on 1999-06-15 with total page 312 pages. Available in PDF, EPUB and Kindle. Book excerpt: Down Syndrome: A Promising Future, Together provides a comprehensive and up-to-date look at life with Down syndrome. Designed to meet the needs of parents and professionals alike, this edited volume addresses a variety of critical medical, developmental, educational, and vocational issues. It discusses current trends and presents the most recent update of the Health Care Guidelines for Individuals with Down Syndrome: Down Syndrome Preventative Medical Check List, which groups by age medical assessments and other important information. Also covered are the controversial and high-profile issues surrounding alternative and nonconventional therapies. The book concludes with the personal stories of young adults with Down syndrome, including an account by Chris Burke of the television series Life Goes On. Filled with practical advice from leading practitioners and advocates in the field, Down Syndrome: A Promising Future, Together is an essential reference for families of people with Down syndrome, for primary care physicians and other healthcare professionals, and for researchers, educators, social workers, early intervention workers, and students.
Download or read book New Developments in Down Syndrome Research written by Alard van den Bosch and published by Nova Science Publishers. This book was released on 2012 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Down syndrome (Trisomy 21), is characterised by the presence of an extra chromosome 21, and is the most common chromosomal abnormality. Clinical symptoms of Down syndrome (DS) often include orthopaedic, cardiovascular, neurological, cognitive, perceptual and motor impairments. In this book, the authors present current research from across the globe on Down syndrome. Topics discussed in this compilation include the effects of regular versus special school placement of students with Down syndrome; the clinical association between disorders of the ENS and Down syndrome; the impact of environmental risk factors on maternal meiotic errors; genomic implications of gene dosage imbalance in autosomal trisomy during neural development; parenting stress in families with Down syndrome children; using technology in the evaluation of Down syndrome children's social-cognitive skills; and atypical postural behaviours in individuals with DS.
Download or read book State of the Art of Research on Down Syndrome written by and published by Academic Press. This book was released on 2019-09-06 with total page 306 pages. Available in PDF, EPUB and Kindle. Book excerpt: State of the Art of Research on Down Syndrome, Volume 56, the latest release in the International Review of Research in Developmental Disabilities series, highlights new advances in the field, with this new volume presenting interesting chapters on the Genetics and Genomics of Down Syndrome, Motor Development and Down Syndrome, Cognitive Profiles in Individuals with Down syndrome, Working Memory and Down syndrome, Environment Learning in Individuals with Down syndrome, Reading for Comprehension: The Contribution of Decoding, Linguistic and Cognitive Skills, Number Sense in Down syndrome, Early Starting States in Infants with Down Syndrome: Implications for Research and Practice, and more. Provides the authority and expertise of leading contributors from an international board of authors Presents the latest release in the International Review of Research in Developmental Disabilities series Updated release includes the latest information on the State of the Art of Research on Down Syndrome
Download or read book An Overview of the Development of Children with Down Syndrome 5 11 Years written by Sue Buckley and published by DSE Enterprises. This book was released on 2001 with total page 46 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book offers an introduction to the development of infants with Down syndrome. Drawing on the latest research and extensive practical experience, it examines many aspects of development during the early years. Presented in an accessible format, it is a useful reference for families and professionals caring for young children with Down syndrome. This introductory book provides an overview of development from birth. It provides information about the development of social, motor, language, cognitive, play, attention, behaviour and self-help skills. It also details typical milestones for children with Down syndrome in these areas. The book highlights the influence of the family and the social interactive nature of development. Individual differences are discussed, as are key health and family issues. Principles for early intervention, therapy and education services are identified, based on the specific needs of children with Down syndrome and research on effectiveness. Down Syndrome Issues and Information is a major series of practical and informative books covering the full range of developmental, health and social issues relating to individuals with Down syndrome. based on years of research and hands-on experience.
Download or read book Recent Advances in Alzheimer Research written by Ahmad Salehi and published by . This book was released on 2015 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Annotation Down syndrome is a chromosomal disorder affecting more than 5.8 million individuals worldwide. Down syndrome can be viewed as a complex multi-system disorder as it manifests into significant physical, psychological, and cognitive abnormalities in affected persons. With aging, most adults with Down syndrome develop the clinical and neuropathological hallmarks of Alzheimer's disease. Unfortunately, no extant treatments have proven beneficial for cognitive dysfunction for either Down syndrome or Alzheimer's disease. An incomplete understanding of the common pathogenic mechanisms that link these two disorders has limited researchers' progress to this end. Common Pathogenic Mechanisms between Down syndrome and Alzheimer's Disease: Steps toward Therapy is a novel attempt to fill this void, by summarizing the work of world-renowned scientists in the field of Alzheimer's disease and Down syndrome, and thus providing an unprecedented opportunity to attract attention to Down syndrome as a tool for understanding the common molecular mechanisms that underlie Alzheimer's disease and to develop new therapies for similar neurodegenerative disorders of the brain. The book covers the fundamental pathophysiology and molecular mechanisms behind the incidence of Alzheimer's disease in Down syndrome affected individuals as well other key topics such as diagnosis and management, in vivo brain imaging studies, and progressive neurodegeneration of the monoaminergic system. The book concludes with a review of recent clinical trials of drugs designed to mitigate cognitive dysfunction in aging adults with Down syndrome and establishes a scientific warrant for the increased testing of candidate pharmacotherapies.Common Pathogenic Mechanisms between Down syndrome and Alzheimer's Disease: Steps toward Therapy is a useful reference [Obaid ur Rahman1] for clinicians involved in treating Down syndrome patients as well as for neuroscience researchers seeking to understand the influence of a specific case of aneuploidy on Alzhemier's disease incidence and its progression at the molecular level.
Download or read book Cassidy and Allanson s Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Download or read book Down Syndrome written by Siegfried M. Pueschel and published by Garland Publishing. This book was released on 1981-01-01 with total page 720 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Down Syndrome written by William I. Cohen and published by Wiley-Liss. This book was released on 2003-04-14 with total page 496 pages. Available in PDF, EPUB and Kindle. Book excerpt: Providing a comprehensive survey of the clinical, educational, developmental, psychosocial, and transitional issues relevant to people with Down syndrome, this book addresses the needs of family members, caregivers, and professionals alike. Edited in association with the National Down Syndrome Society, this up-to-date treatment incorporates the newest developments concerning sexuality, inclusion, transition into adulthood, and legislation, as well as a discussion of the Human Genome Project and the sequencing of chromosome 21.
Download or read book Speech Language Development Intervention in Down Syndrome Fragile X Syndrome written by Joanne Erwick Roberts and published by CLI. This book was released on 2008 with total page 332 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by leading experts, this is the most up-to-date resource on speech and language assessment and intervention for professionals working with infants to adults with Down Syndrome and Fragile X Syndrome.
