The Genetic Testing of Children

The Genetic Testing of Children

Author: Angus Clarke

Publisher: Garland Science

Published: 2020-07-26

Total Pages: 390

ISBN-13: 1000144674

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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.


Assessing Genetic Risks

Assessing Genetic Risks

Author: Institute of Medicine

Publisher: National Academies Press

Published: 1994-01-01

Total Pages: 353

ISBN-13: 0309047986

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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.


Oxford Textbook of Neuropsychiatry

Oxford Textbook of Neuropsychiatry

Author: Niruj Agrawal

Publisher: Oxford University Press

Published: 2020-08-25

Total Pages: 584

ISBN-13: 0191074209

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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.


Apolipoprotein E and Alzheimer’s Disease

Apolipoprotein E and Alzheimer’s Disease

Author: A.D. Roses

Publisher: Springer Science & Business Media

Published: 2012-12-06

Total Pages: 208

ISBN-13: 3642801099

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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.


Clinical Cardiogenetics

Clinical Cardiogenetics

Author: H.F. Baars

Publisher: Springer Science & Business Media

Published: 2010-12-25

Total Pages: 453

ISBN-13: 1849964718

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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?


The Prion Protein

The Prion Protein

Author: Jorg Tatzelt

Publisher:

Published: 2010

Total Pages: 80

ISBN-13: 9780954333522

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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.


Davidson's Principles and Practice of Medicine E-Book

Davidson's Principles and Practice of Medicine E-Book

Author: Brian R. Walker

Publisher: Elsevier Health Sciences

Published: 2013-12-06

Total Pages: 1394

ISBN-13: 0702051039

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More than two million medical students, doctors and other health professionals from around the globe have owned a copy of Davidson’s Principles and Practice of Medicine since it was first published. Today’s readers rely on this beautifully illustrated text to provide up-to-date detail of contemporary medical practice, presented in a style that is concise and yet easy to read. Davidson’s provides the factual knowledge required to practise medicine, explaining it in the context of underlying principles, basic science and research evidence, and shows how to apply this knowledge to the management of patients who present with problems rather than specific diseases. The book has won numerous prizes including being highly commended in the British Medical Association book awards. Davidson’s global perspective is enhanced by the input of an international team of authors and a distinguished International Advisory Board from 17 countries. Building on the foundations laid down by its original editor, Davidson’s remains one of the world’s leading and most respected textbooks of medicine. The underlying principles of medicine are described concisely in the first part of the book, and the detailed practice of medicine within each sub-specialty is described in later system-based chapters. Most chapters begin with a two-page overview of the important elements of the clinical examination, including a manikin to illustrate the key steps in the examination of the relevant system. A practical, problem-based clinical approach is described in the ‘Presenting Problems’ sections, to complement the detailed descriptions of each disease. The text is extensively illustrated, with over 1000 diagrams, clinical photographs, and radiology and pathology images. 1350 text boxes present information in a way suitable for revision, including 150 clinical evidence boxes summarising the results of systematic reviews and randomised controlled trials and 65 ’In Old Age’ boxes highlighting important aspects of medical practice in the older population. A combined index and glossary of medical acronyms contains over 10 000 subject entries. The contents can also be searched comprehensively as part of the online access to the whole book on the StudentConsult platform. Access over 500 self-testing questions with answers linked to the book’s content for further reading. The text uses both SI and non-SI units to make it suitable for readers throughout the globe. A new chapter specifically on Stroke Disease recognises the emergence of Stroke Medicine as a distinct clinical and academic discipline. A rationalisation of the 1350 boxes used throughout the book gives a simpler and clearer presentation of the various categories. New ‘In Adolescence’ boxes recognise the fact that many chronic disorders begin in childhood and become the responsibility of physicians practising adult medicine. These boxes acknowledge the overlap ‘transitional’ phase and highlight the key points of importance when looking after young people. The regular introduction of new authors and editors maintains the freshness of each new edition. On this occasion Dr Ian Penman has joined the editorial team and 18 new authors bring new experience and ideas to the content and presentation of the textbook. An expanded International Advisory Board of 38 members includes new members from several different countries.


Family Communication about Genetics

Family Communication about Genetics

Author: Clara L. Gaff

Publisher:

Published: 2010

Total Pages: 312

ISBN-13: 0195369823

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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.


Hodges' Frontotemporal Dementia

Hodges' Frontotemporal Dementia

Author: Bradford C. Dickerson

Publisher: Cambridge University Press

Published: 2016-05-19

Total Pages: 317

ISBN-13: 1316352315

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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.


Advanced Genetic Counseling

Advanced Genetic Counseling

Author: Barbara B. Biesecker

Publisher:

Published: 2019

Total Pages: 241

ISBN-13: 0190626429

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Introduction to genetic counseling -- History of genetic counseling -- Practice definition and goals -- Characteristics of clients and genetic counseling -- Characteristics of counselors and genetic counseling -- Applying ethical theories to genetic counseling practice -- Conflict of interest and the code of ethics -- Relational genetic counseling -- Theories for genetic counseling practice -- Research in genetic counseling -- Genetic counseling in the genomic era.