Download or read book Focus on Medical Genetics and Down s Syndrome Research written by Richard A. Firthel and published by Nova Publishers. This book was released on 2007 with total page 212 pages. Available in PDF, EPUB and Kindle. Book excerpt: Medical Genetics is the application of genetics to medicine. Medical genetics is broad and varied and encompasses many different individual fields, including clinical genetics, biochemical genetics, cytogenetics, molecular genetics, the genetics of common diseases (such as neural tube defects), and genetic counselling. Each of the individual fields within medical genetics is a hybrid. Clinical genetics is a hybrid of clinical medicine with genetics. Biochemical genetics is a hybrid of biochemistry, mainly the biochemistry of amino acids and proteins, with genetics. Molecular genetics is a hybrid of the biochemistry of DNA and RNA with genetics. Cytogenetics is a hybrid of cytology and genetics; it involves the study of chromosomes under the microscope. And genetic counselling is a hybrid of genetics with non-directional counselling. This book presents leading-edge research on medical genetics as well as on Down's syndrome.
Download or read book Focus on Down s Syndrome Research written by Jeffrey A. Malard and published by . This book was released on 2004 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Down's Syndrome is a chromosome abnormality, usually due to an extra copy of the 21st chromosome, although not invariably, resulting in mental retardation and other abnormalities. It is the most common single cause of birth defects with an incidence of 1 in 660 births. Children with Down syndrome have a widely recognised characteristic appearance. The head may be smaller than normal and abnormally shaped. Prominent facial features include a flattened nose, protruding tongue, and upward slanting eyes. Retardation of normal growth and development is typical and most affected children never reach average adult height. Congenital heart defects are frequently present in these infants as are other medical difficulties. Breakthroughs in genetic engineering offer new hope for this field. This book offers state-of- the art reports on efforts to better understand and push forward this dynamic field of medical research.
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 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 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 Genetics and Etiology of Down Syndrome written by Subrata Dey and published by BoD – Books on Demand. This book was released on 2011-08-29 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a concise yet comprehensive source of current information on Down syndrome. Research workers, scientists, medical graduates and paediatricians will find it an excellent source for reference and review. This book has been divided into four sections, beginning with the Genetics and Etiology and ending with Prenatal Diagnosis and Screening. Inside, you will find state-of-the-art information on: 1. Genetics and Etiology 2. Down syndrome Model 3. Neurologic, Urologic, Dental
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 Down Syndrome written by Terry J. Hassold and published by Wiley-Liss. This book was released on 1998-11-09 with total page 293 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 Advances in Down Syndrome Research written by Gert Lubec and published by Springer. This book was released on 2012-03-11 with total page 242 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 Handbook of Down Syndrome Research written by Dominicus Jelinek and published by Nova Science Publishers. This book was released on 2009 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Down syndrome is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically. It affects about 1 in every 800 babies. The physical features and medical problems associated with Down syndrome can vary widely from child to child. In most cases, the child has short and squat body, big neck, macroglossia, hypotonia and handheld fold. While some kids with DS need a lot of medical attention, others lead healthy lives. Though Down syndrome cannot be prevented, it can be detected before a child is born. Furthermore, while some kids with DS have no significant health problems, others may experience a host of medical issues that require extra care. For example, almost half of all children born with DS will have a congenital heart defect. Kids with Down syndrome are also at an increased risk of developing pulmonary hypertension. This book examines this genetic disorder, the detection of possible causes and treatment options for the complications of the disease.
Download or read book The Molecular Biology of Down Syndrome written by G. Lubec and published by Springer Science & Business Media. This book was released on 1999-12-02 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book contains updated reviews and original research work on Down Syndrome focussing on brandnew results in neurobiology, in particular results on gene hunting (subtractive hybridization, differential display) and neurochemistry. The book provides new data such as a subtractive library of Down Syndrome brain showing cDNAs that are overexpressed or downregulated and can be regarded as a source for further research on the preliminary transcriptional data given. A 2D-electrophoretic map of human brain proteins including Down Syndrome brain protein expression established by in-gel-digestion of spots with subsequent MALDI-identification provides the scientific basis for protein work to the neuroscientist. Altogether, the book provides a series of new candidate genes possibly involved in Down Syndrome neurobiology, tools for neuroscience studies on Down Syndrome brain thus serving as a manual and updated views and aspects on Down Syndrome pathobiology.
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 Facts about Down Syndrome written by and published by . This book was released on 1984 with total page 20 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Clinical Precision Medicine written by Judy S. Crabtree and published by Academic Press. This book was released on 2019-11-15 with total page 114 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Precision Medicine: A Primer offers clinicians, researchers and students a practical, up-to-date resource on precision medicine, its evolving technologies, and pathways towards clinical implementation. Early chapters address the fundamentals of molecular biology and gene regulation as they relate to precision medicine, as well as the foundations of heredity and epigenetics. Oncology, an early adopter of precision approaches, is considered with its relationship to genetic variation in drug metabolism, along with tumor immunology and the impact of DNA variation in clinical care. Contributions by Stephanie Kramer, a Clinical Genetic Counselor, also provide current information on prenatal diagnostics and adult genetics that highlight the critical role of genetic counselors in the era of precision medicine. Includes applied discussions of chromosomes and chromosomal abnormalities, molecular genetics, epigenetic regulation, heredity, clinical genetics, pharmacogenomics and immunogenomics Features chapter contributions from leaders in the field Consolidates fundamental concepts and current practices of precision medicine in one convenient resource
Download or read book Down s Syndrome Screening and Reproductive Politics written by Gareth M. Thomas and published by Routledge. This book was released on 2017-03-16 with total page 251 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nominated for the Foundation of Sociology of Health and Illness Book Prize 2018 In the UK and beyond, Down’s syndrome screening has become a universal programme in prenatal care. But why does screening persist, particularly in light of research that highlights pregnant women’s ambivalent and problematic experiences with it? Drawing on an ethnography of Down’s syndrome screening in two UK clinics, Thomas explores how and why we are so invested in this practice and what effects this has on those involved. Informed by theoretical approaches that privilege the mundane and micro practices, discourses, materials, and rituals of everyday life, Down’s Syndrome Screening and Reproductive Politics describes the banal world of the clinic and, in particular, the professionals contained within it who are responsible for delivering this programme. In so doing, it illustrates how Down’s syndrome screening is ‘downgraded’ and subsequently stabilised as a ‘routine’ part of a pregnancy. Further, the book captures how this routinisation is deepened by a systematic, but subtle, framing of Down’s syndrome as a negative pregnancy outcome. By unpacking the complex relationships between professionals, parents, technology, policy, and clinical practice, Thomas identifies how and why screening is successfully routinised and how it is embroiled in both new and familiar debates surrounding pregnancy, ethics, choice, diagnosis, care, disability, and parenthood. The book will appeal to academics, students, and professionals interested in medical sociology, medical anthropology, science and technology studies (STS), bioethics, genetics, and/or disability studies.
Download or read book X Y Chromosomal Variations written by Carole A. Samango-Sprouse and published by Biota Publishing. This book was released on 2016-10-11 with total page 138 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the first book on X and Y chromosomal disorders to address these common but rarely diagnosed conditions. This book seeks to present the latest in research and clinical care addressing neuroimaging, the interaction between hormones, brain development, and neurodevelopmental progression. This book will primarily focus on 47, XXY (Klinefelter syndrome, or KS), 47, XYY (Jacobs' syndrome), and 47, XXX (Triple X). More variant disorders such as 48, XXXX, 48, XXXY and 49, XXXXY will be discussed. Topics of interest include neurological functioning, neuroimaging, social language, and the evolving perspectives of these XY chromosomal disorders. The effects of testosterone supplementation in males with 47, XXY will also be examined.
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.
