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 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 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 Advances in Down Syndrome written by Valentine Dmitriev and published by . This book was released on 1988-01-01 with total page 336 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Down Syndrome written by Ira T. Lott and published by Wiley-Liss. This book was released on 1992-05-07 with total page 224 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 The Neurobiology of Aging and Alzheimer Disease in Down Syndrome written by Elizabeth Head and published by Academic Press. This book was released on 2021-08-31 with total page 354 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Neurobiology of Aging and Alzheimer Disease in Down Syndrome provides a multidisciplinary approach to the understanding of aging and Alzheimer disease in Down syndrome that is synergistic and focused on efforts to understand the neurobiology as it pertains to interventions that will slow or prevent disease. The book provides detailed knowledge of key molecular aspects of aging and neurodegeneration in Down Syndrome by bringing together different models of the diseases and highlighting multiple techniques. Additionally, it includes case studies and coverage of neuroimaging, neuropathological and biomarker changes associated with these cohorts. This is a must-have resource for researchers who work with or study aging and Alzheimer disease either in the general population or in people with Down syndrome, for academic and general physicians who interact with sporadic dementia patients and need more information about Down syndrome, and for new investigators to the aging and Alzheimer/Down syndrome arena. Discusses the complexities involved with aging and Alzheimer’s disease in Down syndrome Summarizes the neurobiology of aging that requires management in adults with DS and leads to healthier aging and better quality of life into old age Serves as learning tool to orient researchers to the key challenges and offers insights to help establish critical areas of need for further research
Download or read book Down Syndrome written by Siegfried M. Pueschel and published by . This book was released on 1982 with total page 552 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ce document propose un éventail des différentes recherches et découvertes touchant le syndrome de Down, tout particulièrement dans les domaines de la biologie médicale et des sciiences du comportement, En plus de l'historique de ce syndrome, l'étiologie, l'épidémiologie, de la cytogénétique (reproduction cellulaire) et différents aspects bio-médicaux de ce syndrome, il est également abordé le counseling aux parents, l'intervention précoce, le développement cognitif de la personne ainsi que son avenir et son autonomie.
Download or read book Fasten Your Seatbelt written by Brian Skotko and published by Special Needs Collection. This book was released on 2009 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Even the closest brothers and sisters don't always get along or understand each other. Add a disability like Down syndrome to the mix, and that sibling relationship gets even more complicated, especially for teenagers. Fasten Your Seatbelt is the first book written exclusively for teens with a brother or sister with Down syndrome. In an easy-to-read, question & answer format, it tackles a broad range of their most common issues and concerns. Nearly 100 questions--all posed by teen siblings--are grouped into the following categories: Facts and stats about Down syndrome How people with Down syndrome learn Handling parent and family conflicts Dealing with your sibling's frustrating behaviors Managing uncomfortable situations Sorting out your feelings Becoming an advocate What the future holds for you and your sibling Finding local and national resources Thoughtful, knowledgeable answers are provided by Brian Skotko, the brother of a young woman with Down syndrome, and Sue Levine, a social worker focused on sibling issues for the past 30 years. Fasten Your Seatbelt gives teens the green light to explore their own feelings and questions about their sibling with Down syndrome and how their relationship may change in the future. Wondering whats on their minds? Here are a few sample questions from the book: Why does my brother always have temper tantrums? How can one extra chromosome make someone so different? Can my sister with Down syndrome marry someday? Will my brother be able to live on his own as an adult?
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 Intellectual Disabilities in Down Syndrome from Birth and throughout Life Assessment and Treatment written by Marie-Claude Potier and published by Frontiers Media SA. This book was released on 2017-02-24 with total page 183 pages. Available in PDF, EPUB and Kindle. Book excerpt: Research on the multiple aspects of cognitive impairment in Down syndrome (DS), from genes to behavior to treatment, has made tremendous progress in the last decade. The study of congenital intellectual disabilities such as DS is challenging since they originate from the earliest stages of development and both the acquisition of cognitive skills and neurodegenerative pathologies are cumulative. Comorbidities such as cardiac malformations, sleep apnea, diabetes and dementia are frequent in the DS population, as well, and their increased risk provides a means of assessing early stages of these pathologies that is relevant to the general population. Notably, persons with DS will develop the histopathology of Alzheimer’s disease (formation of neuritic plaques and tangles) and are at high risk for dementia, something that cannot be predicted in the population at large. Identification of the gene encoding the amyloid precursor protein, its localization to chromosome 21 in the 90’s and realization that all persons with DS develop pathology identified this as an important piece of the amyloid cascade hypothesis in Alzheimer’s disease. Awareness of the potential role of people with DS in understanding progression and treatment as well as identification of genetic risk factors and also protective factors for AD is reawakening. For the first time since DS was recognized, major pharmaceutical companies have entered the search for ameliorative treatments, and phase II clinical trials to improve learning and memory are in progress. Enriched environment, brain stimulation and alternative therapies are being tested while clinical assessment is improving, thus increasing the chances of success for therapeutic interventions. Researchers and clinicians are actively pursuing the possibility of prenatal treatments for many conditions, an area with a huge potential impact for developmental disorders such as DS. Our goal here is to present an overview of recent advances with an emphasis on behavioral and cognitive deficits and how these issues change through life in DS. The relevance of comorbidities to the end phenotypes described and relevance of pharmacological targets and possible treatments will be considerations throughout.
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 Down Syndrome written by William I. Cohen and published by John Wiley & Sons. This book was released on 2002-06-06 with total page 501 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 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 Children with Down Syndrome written by Dante Cicchetti and published by Cambridge University Press. This book was released on 1990-03-30 with total page 492 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume offers a state-of-art review of what is known about young children with Down syndrome from a developmental perspective. The underlying theme of the book is that children with Down syndrome, despite their constitutional anomalies and their additional medical and biological problems, can be understood from a normative developmental framework. Interventions guided by developmental principles in the biological, educational and psychological realms are more likely to result in informed knowledge about how best to help children with Down syndrome and their families. Children with Down Syndrome will appeal to researchers, theoreticians, educators, and clinicians in a range of disciplines, as well as to parents, social policymakers, and other advocates for the best interests of children with Down syndrome.
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 Neurodegenerative Diseases written by Shamim I. Ahmad and published by Springer Science & Business Media. This book was released on 2012-03-12 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: The editor of this volume, having research interests in the field of ROS production and the damage to cellular systems, has identified a number of enzymes showing ·OH scavenging activities details of which are anticipated to be published in the near future as confirmatory experiments are awaited. It is hoped that the information presented in this book on NDs will stimulate both expert and novice researchers in the field with excellent overviews of the current status of research and pointers to future research goals. Clinicians, nurses as well as families and caregivers should also benefit from the material presented in handling and treating their specialised cases. Also the insights gained should be valuable for further understanding of the diseases at molecular levels and should lead to development of new biomarkers, novel diagnostic tools and more effective therapeutic drugs to treat the clinical problems raised by these devastating diseases.
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.
