Download or read book Effects of Presymptomatic Genetic Testing for Adult onset Genetic Neurodegenerative Conditions Without Pre test Genetic Counseling written by Jessica D. Ehr and published by . This book was released on 2006 with total page 178 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Prenatal Testing for Late onset Neurogenetic Diseases written by G Evers-Kiebooms and published by CRC Press. This book was released on 2003-12-16 with total page 242 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book addresses the biological, moral and legal issues which arising prenatal testing of late onset neurogenetic disease. The contributors focus specifically on Huntington's Disease, which is used as a model for other late onset neurogenetic diseases. The ethical and legal aspects of prenatal testing and preimplantation genetic diagnosis are discussed with reference to case histories. This volume will provide valuable insights for all those involved in dealing with these challenging issues.
Download or read book Genetic Counseling for Adult Neurogenetic Disease written by Jill S. Goldman and published by Springer. This book was released on 2014-12-01 with total page 325 pages. Available in PDF, EPUB and Kindle. Book excerpt: The adult patient diagnosed with or at risk for a neurogenetic disease has many questions and concerns for the genetic counselor, the neurologist, and other practitioners. Because of the emotional and potentially life-altering impact of these diseases on the patient and family, counseling can be especially challenging. A rare hands-on guide to the subject, Genetic Counseling for Adult Neurogenetic Disease deals with core issues that differentiate adult neurogenetic counseling from its more familiar pediatric counterpart. This innovative book with accompanying videos is designed to fill in deficits in this area typical of training programs in genetic counseling (which have pediatrics and prenatal concentrations) and neurology (which rarely cover genetic counseling). For each condition featured, chapters include a detailed overview of genetic symptoms, diagnostic criteria, and management, plus guidelines for asking, and answering, pertinent questions. The major concentration, however, is on genetic counseling issues and case histories illustrating these issues. As an added dimension, the accompanying videos depict representative issues and challenges in genetic counseling for specific diseases in addition to the basics of a neurological examination. Among the conditions discussed: Movement disorders, including Parkinson's disease. Dementias, including Alzheimer's disease. Stroke. Motor neuron diseases. Neuropathies and channelopathies. Adult muscular dystrophies. Neurocutaneous syndromes. Plus a section on neurological and neuropsychological evaluation. This is information that will stay relevant as technologies change and genetic understanding evolves. Genetic Counseling for Adult Neurogenetic Disease offers advanced clinical wisdom for genetic counselors as well as neurologists, neuropsychologists, and other referring clinicians.
Download or read book The Genetic Testing of Children written by Angus Clarke and published by Garland Science. This book was released on 2020-07-26 with total page 390 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, written by a leading geneticist, examines the ethical and social issues raised by the genetic testing of children. The opinions of geneticists, ethicists and affected families are all included to give a balanced view of this controversial field. Issues covered include confidentiality, potential abuses of genetic information (eg the use of test results by insurance companies) and the value of predictive genetic testing. The aim of the book is to improve awareness of the complexity of the issues raised and provide suggestions as to how the discussions must develop - it therefore raises new questions as well as answering those that already exist.
Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Download or read book Polyglutamine Disorders written by Clévio Nóbrega and published by Springer. This book was released on 2018-02-09 with total page 467 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a cutting-edge review of polyglutamine disorders. It primarily focuses on two main aspects: (1) the mechanisms underlying the pathologies’ development and progression, and (2) the therapeutic strategies that are currently being explored to stop or delay disease progression. Polyglutamine (polyQ) disorders are a group of inherited neurodegenerative diseases with a fatal outcome that are caused by an abnormal expansion of a coding trinucleotide repeat (CAG), which is then translated in an abnormal protein with an elongated glutamine tract (Q). To date, nine polyQ disorders have been identified and described: dentatorubral-pallidoluysian atrophy (DRPLA); Huntington’s disease (HD); spinal–bulbar muscular atrophy (SBMA); and six spinocerebellar ataxias (SCA 1, 2, 3, 6, 7, and 17). The genetic basis of polyQ disorders is well established and described, and despite important advances that have opened up the possibility of generating genetic models of the disease, the mechanisms that cause neuronal degeneration are still largely unknown and there is currently no treatment available for these disorders. Further, it is believed that the different polyQ may share some mechanisms and pathways contributing to neurodegeneration and disease progression.
Download or read book It was the Missing Piece Predictive Genetic Testing in Young People for Adult Onset Conditions written by Cara Maree Mand and published by . This book was released on 2012 with total page 626 pages. Available in PDF, EPUB and Kindle. Book excerpt: Predictive genetic testing for adult onset genetic conditions, such as Huntington's disease, is an accepted element of the standard of care for at risk adults. Conversely, there is continuing controversy in regard to testing young people, specifically those younger than 18 years, at risk for adult onset genetic conditions for which there are no effective medical interventions before adulthood. Guidelines recommend testing is deferred in these cases until a young person reaches the age of majority. Arguments against testing have concentrated upon potential harms flowing from testing, and have questioned the capacity of young people to provide informed consent. Recent evidence shows some clinicians are making their own determination as to the best interests and capacities of individual young people and are providing testing in some cases. These tests have largely occurred outside of a research framework; missed opportunities to move from an opinion-driven discourse and build an evidence base to guide future practice. This thesis aims to address this research gap by directly engaging with young people to explore their experiences and views to inform the current ethical discourse and contribute to a developing empirical evidence base. Following on from an overview of relevant international guidelines and literature review I show that, despite increasing opportunities for directly relevant empirical research, opinions regarding the likely consequences of predictive testing in young people rely on extrapolation from adult research combined with speculation built upon supposed special vulnerability in childhood and adolescence. Against this background, I present my own empirical research, incorporating qualitative methodology in conducting and analysing in-depth interviews with two groups of young people. First, I describe the findings from interviews with eight of a possible nine young people across two Australian states who have participated in predictive genetic testing as minors for adult onset conditions including familial cancer syndromes and neurogenetic conditions where no effective intervention is available prior to adulthood, if at all. Secondly, I describe the outcomes of ten interviews with young people at risk for Huntington's disease, none of whom had participated in a predictive genetic test. For the first time, I present evidence that potential adverse consequences of testing raised by commentators may have been overstated and highlight a range of previously unreported harms and benefits associated with both gene- positive and negative test results. Of concern, institutional testing processes were almost universally a focus of strong dissatisfaction and participants identified these processes as an independent cause of distress. Findings from the untested group at risk for Huntington's disease reinforce previous research findings that living at risk in a family affected by a genetic condition may be associated with harms independent of considerations of testing. For both groups, I highlight the unique individual circumstances from which a request for testing may emerge, and the danger in assuming that these young people conform to an adolescent stereotype or that a generic list of potential harms and benefits may be applied in every case. Some young people living at risk in a family affected by a genetic condition are thinking about and want to talk about predictive genetic testing. The evidence presented in this thesis suggests that a highly personalised assessment, considering past experiences and personal beliefs to measure task specific competence and predict potential harms and benefits, may find young people who are competent to provide informed consent and for whom predictive testing is in their best interests.
Download or read book Clinical Cardiogenetics written by H.F. Baars and published by Springer Science & Business Media. This book was released on 2010-12-25 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic. The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a practical manner. The authors will cover the principles of molecular genetics in general but also specific to cardiac diseases. They will discuss the etiology, pathogenesis, pathophysiology, clinical presentation, clinical diagnosis, molecular diagnosis and treatment of each cardiogenetic disease separately. Therapy advice, ICD indications, indications for and manner of further family investigation will all be covered, while each chapter will also contain take-home messages to reinforce the key points. The chapters reviewing the different diseases will each contain a table describing the genes involved in each. Each chapter will also contain specific illustrations, cumulatively giving a complete, practical review of each cardiogenetic disease separately. Special emphasis will be given to advice on how to diagnose and manage cardiogenetic diseases in clinical practice, which genes should be investigated and why, and the pros and cons of genetic testing. Guidelines for investigation in families with sudden cardiac death at young age will also be included. This book will be written for the general cardiologist and the clinical geneticist who is involved in cardiac patients and will provide answers to question such as: Which genes are involved and which mutations? What is the effect of the mutation at cellular level? Which genes should be tested and why? What is the value of a molecular diagnosis? Does it influence therapy? When should the first degree relatives be tested and in which way?
Download or read book Neurodegeneration and Alzheimer s Disease written by Ralph N. Martins and published by John Wiley & Sons. This book was released on 2019-07-10 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: Understanding the impact of diet, exercise, genetics, and hormones on the risk and development of Alzheimer’s and other neurogenerative diseases Diet is widely known to impact on neurological function. Nevertheless, academic texts discussing this relationship are relatively few in number. This book therefore fills an important gap in the current literature. Opening with an overview of neurodegenerative diseases, particularly Alzheimer’s disease, the text then focuses on explaining the means by which glycemic control and lipid metabolism – and associated nutritional and lifestyle variables – may factor into such disorders’ prevention and treatment. An international group of experts in the fields of food science and neurodegeneration have contributed chapters that examine Alzheimer’s disease within a broad range of contexts. Offering dietary, genetic, and hormonal perspectives, the authors explore topics ranging from sugar consumption to digestive fermentation, and Alzheimer’s disease animal models to the cognition-enhancing effects of physical exercise. Also included are overviews of the latest research into current and developing methods of treatment and diagnosis, as well as differential diagnostics. This groundbreaking book: Explores how glucose metabolism, insulin resistance, lipid metabolism, and high intake of refined carbohydrates are linked to Alzheimer's disease Discusses how genetic makeup can impact risk of Alzheimer’s and Parkinson’s disease Examines cognitive changes in neurodegeneration, lists current tests for determining cognitive impairment, and provides information concerning differential diagnosis Discusses potential advantages of increasing antioxidant and micronutrient intake Reviews hormonal influences on neurodegeneration Examines the links between protein intake and Alzheimer’s disease. Neurodegeneration and Alzheimer's Disease is an essential resource for researchers, medical practitioners, dietitians, and students with an interest in neurological diseases and their diagnosis and risk factors, as well as diet-related conditions such as diabetes and obesity. Lifestyle and diet influence neurodegeneration risk, and a better understanding of this evidence amongst health professionals will hopefully lead to greater public awareness of how to reduce the likelihood of these widespread conditions.
Download or read book Advanced Genetic Counseling written by Barbara B. Biesecker and published by Oxford University Press, USA. This book was released on 2019 with total page 241 pages. Available in PDF, EPUB and Kindle. Book excerpt: A CRITICAL NEW APPROACH FOR LEARNING AND THRIVING IN A FIELD OF CHANGE The scope and responsibilities of today's genetic counselors exceed the reasonable capacity of any one educational resource. While the field's first-year curriculum may be relatively fixed, the landscape of what comes after that -- a dizzying mix of practice, ethics, research design, and professional competencies -- is increasingly broad. Advanced Genetic Counseling offers an overdue extension of the field's core curriculum. From navigating ethical dilemmas and potential conflicts of interest to confronting the biases and patterns of thought that can limit counselors' interactions with clients, it prepares readers to face the profession's most challenging aspects with confidence. Drawing on techniques from psychotherapy, social psychology, and health behavior, Advanced Genetic Counseling is an essential resource for trainees and mid-career professionals. It offers a roadmap not just for addressing client needs, but for the future of genetic counseling education.
Download or read book Oxford Textbook of Neuropsychiatry written by Niruj Agrawal and published by Oxford University Press. This book was released on 2020-08-25 with total page 584 pages. Available in PDF, EPUB and Kindle. Book excerpt: A survey of over 900 trainees at the Royal College of Psychiatrists (RCPsych) in the United Kingdom showed that over three-quarters of psychiatry trainees desired some knowledge and training in the field of neuropsychiatry. Recent years have given rise to a substantial global focus on integrating neurosciences and neuropsychiatry in psychiatric training. Neuropsychiatry forms an important part of the psychiatric curriculum and is examined in theory and in clinical exams. Similarly, neuropsychiatry is also of interest to neurology trainees, and it is increasingly recognised that all neurology trainees should have some knowledge and experience in neuropsychiatry. Despite this growing interest, there is a dearth of neuropsychiatry textbooks specifically geared towards trainees and other clinicians who are not specialist in the field. Part of the Oxford Textbooks in Psychiatry series, the Oxford Textbook of Neuropsychiatry helps to bridge the gap between general psychiatric textbooks and reference texts in neuropsychiatry. Organised into four sections, the book covers the basic knowledge and skills relevant to neuropsychiatry, the various neuropsychiatric conditions, the principles of treatment, and perspectives for neuropsychiatry worldwide. Chapters have been written by international experts who are leaders in their own fields with the view to taking an evidence-based, up-to-date, global perspective on neuropsychiatric problems and treatment. The book is relevant to trainees in psychiatry, neurology, neurorehabilitation and also to various allied professionals in neuroscience and mental health. It covers core knowledge and skills for practice in all psychiatric disciplines including core knowledge for training in neuropsychiatry. The book meets curriculum requirements for various international training programmes and examinations, and serves as an essential training text book for all psychiatric and neurology trainees worldwide.
Download or read book Preventive and Predictive Genetics Towards Personalised Medicine written by Godfrey Grech and published by Springer. This book was released on 2015-06-24 with total page 388 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pharmacogenomics supports personalized medicine by translating genome-based knowledge into clinical practice, offering enhanced benefit for patients and health-care systems at large. Current routine practice for diagnosing and treating patients is conducted by correlating parameters such as age, gender and weight with risks and expected treatment outcomes. In the new era of personalized medicine the healthcare provider is equipped with improved ability to prevent, diagnose, treat and predict outcomes on the basis of complex information sources, including genetic and genomic data. Targeted therapy and reliable prediction of expected outcomes offer patients access to better healthcare management, by way of identifying the therapies effective for the relevant patient group, avoiding prescription of unnecessary treatment and reducing the likelihood of developing adverse drug reactions.
Download or read book Apolipoprotein E and Alzheimer s Disease written by A.D. Roses and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 208 pages. Available in PDF, EPUB and Kindle. Book excerpt: There is now considerable genetic evidence that the type 4 allele of the apolipoprotein E gene is a major susceptibility factor associated with late-onset Alzheimer's disease, the common form of the disease defined as starting after sixty years of age. The role of apolipoprotein E in normal brain metabolism and in the pathogenesis of Alzheimer's disease are new and exciting avenues of research. This book, written by the most outstanding scientists in this new filed, is the first presentation of results concerning the implications of apolipoprotein E on the genetics, cell biology, neuropathology, biochemistry, and therapeutic management of Alzheimer's disease.
Download or read book Hodges Frontotemporal Dementia written by Bradford C. Dickerson and published by Cambridge University Press. This book was released on 2016-05-19 with total page 317 pages. Available in PDF, EPUB and Kindle. Book excerpt: Frontotemporal dementia (FTD) is a cruel disease, robbing patients of core human characteristics and wreaking havoc with relationships. Clinical and scientific interest in FTD and related disorders continues to grow rapidly, with major advances having occurred since this book's last publication. New clinical diagnostic criteria were published in 2011; new pathological discoveries have led to new diagnostic criteria; and major genetic discoveries have been made. This new edition covers these developments, providing the leading resource on FTD, PPA, PSP, CBD, FTD-ALS, and related disorders, now written by a more internationally representative group of authors than before. Providing an in-depth and expert synthesis of the status of our knowledge of FTD and related syndromes, the content includes chapters reviewing clinical, neuropsychiatric, neuropsychological, imaging, and other features of FTD and multidisciplinary approaches to patient management. Essential reading for specialist and generalist neurologists, psychiatrists, geriatricians, neuropsychologists, neuropathologists, and basic scientists in relevant fields.
Download or read book The Prion Protein written by Jorg Tatzelt and published by . This book was released on 2010 with total page 80 pages. Available in PDF, EPUB and Kindle. Book excerpt: A conformational transition of the cellular prion protein (PrPC) into an aberrantly folded isoform designated scrapie prion protein (PrPSc) is the hallmark of a variety of neurodegenerative disorders collectively called prion diseases. They include Creutzfeldt-Jakob disease and Gerstmann-Stäussler-Scheinker syndrome in humans, scrapie in sheep, bovine spongiform encephalopathy (BSE) in cattle and chronic wasting disease (CWD) in free-ranging deer. In contrast to the deadly properties of misfolded PrP, PrPC seems to possess a neuroprotective activity. More-over, animal models indicated that the stress-protective activity of PrPC and the neurotoxic effects of PrPSc are somehow interconnected. In this timely book, leading scientists in the field have come together to highlight the apparently incongruous activities of different PrP conformers. The articles outline current research on celluar pathways implicated in the formation and signaling of neurotoxic and physiological PrP isoforms and delineate future research direction. Topics covered include the physiologcial activity of PrPC and its possible role as a neurotrophic factor, the finding that aberrant PrP conformers can cause neurodegeneration in the absence of infectious prion propagation, the requirement of the GPI anchor of PrPC for the neurotoxic effects of scrapie prions, the pathways implicated in the formation and neurotoxic properties of cytosolically localized PrP, the impact of metal ions on the processing of PrP, and the role of autophagy in the propagation and clearance of PrPSc. The book is fully illustrated and chapters include comprehensive reference sections. Essential reading for scientists involved in prion research.
Download or read book Family Communication about Genetics written by Clara L. Gaff and published by . This book was released on 2010 with total page 312 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics is in all senses a family affair. The diagnosis of a genetic condition affects not only the patient and biological family members who may themselves be at risk, but also "family" more generally as support may be sought from those considered kin and who may or may not be at risk themselves. It is considered best practice in genetic consultations to explore who will be informed within the family when a genetic condition or risk is diagnosed, particularly when the health of other family members is at risk. There is little guidance or consensus on how to achieve the implicit goal of informed family members while respecting patient confidentiality, however. There is a need for practitioners to be aware of the dynamics of family communication and to have guidance about how they may sensitively facilitate communication about genetics within families. This handbook facilitates the development of clinical practices relating to family communication about genetics. Relevant theories of family communication are summarized and related to a clinical genetics milieu and, from this, frameworks for practitioners are presented. A book of this nature is particularly timely as the completion of the Human Genome Project will result in an unprecedented amount of information about genetic constitution and health risks becoming available to individuals and their families. The presence of a potentially genetic condition in a family is not a new phenomenon. However, the growth in testing for genetic conditions, common complex conditions and variants that may influence health as well as drug metabolism means that a greater number of individuals will face decisions about communicating this information to their relatives. Many health professionals in all levels of health care will be confronted with issues of responsibility and practice in family communication about genetic information as they become providers of this testing.
Download or read book Imaging in Neurodegenerative Disorders written by Luca Saba and published by Oxford University Press, USA. This book was released on 2015 with total page 585 pages. Available in PDF, EPUB and Kindle. Book excerpt: This text summarizes the latest developments in imaging techniques and other new diagnostic methods as applied to the neurodegenerative disorders.
