Management of Prader-Willi Syndrome brings together the contributions of professionals with considerable expertise in diagnosis and management of PWS. Clinical, social, family, and community issues are explored and management strategies identified. The text presents historical, medical, and genetic information to orient the reader. The major portion deals with pragmatic guidelines, rather than research and diagnosis, and is directed to health and educational specialists in academic, clinical, and community settings. This manual is endorsed by The Prader-Willi Syndrome Association, which is recognized world-wide.

'A perfect blend of cutting-edge science and compelling storytelling. Daniel Davis has a rare knack for making complex science comprehensible and thrilling' BILL BRYSON Welcome to a revolution in the science of you. Recent and dramatic breakthroughs in our understanding of the body will profoundly change the experience of being human in the coming century. Already they are opening up boundary-breaking possibilities for intervention at every level, from our brains and genes to our microbiomes and immune systems. These will confer unprecedented powers over health, childhood development, our cognitive and physical abilities, and affect every aspect of how we live our lives and think about ourselves. As the secrets of our bodies are revealed, we all will face previously unthinkable choices with consequences we have yet to understand. Imagine knowing years in advance the precise likelihood of developing specific cancers, thanks to a bespoke understanding of every cell in your body; following a diet and health regime tailored to your microbiome; continuous monitoring of your body's workings and well-being; taking drugs that improve your cognition and help to acquire new skills; manipulating the genes of your unborn children to eliminate disease or even enhance their capabilities. Written by an award-winning scientist at the forefront of this work, The Secret Body shows how these radical and disconcerting possibilities have been made real thanks to the ingenious technologies and decades-long collaborations of scientists worldwide. A gripping drama of discovery and a landmark account of this dawning revolution, it presents a vision of the human body of dizzying complexity, wonder and possibility. 'A beautifully rendered picture of the startling new discoveries in human biology which are radically altering our understanding of how we function and what our future holds' BRIAN COX 'An extraordinary journey that reveals the magnificence, intricacy and beauty of the human body, fundamentally changing the way we see ourselves. Masterful' ALICE ROBERTS

Sickle cell disease (SCD) is a severe chronic illness and one of the world's most common genetic conditions, with 400,000 children born annually with the disorder, mainly in Sub-Saharan Africa, India, Brazil, the Middle East and in diasporic African populations in North America and Europe. Biomedical treatments for SCD are increasingly available to the world's affluent populations, while such medical care is available only in attenuated forms in Africa, India and to socio-economically disadvantaged groups in North America and Europe. Often a condition rendered invisible in policy terms because of its problematic association with politically marginalized groups, the social study of sickle cell has been neglected. This illuminating volume explores the challenges and possibilities for developing a social view of sickle cell, and for improving the quality of lives of those living with SCD. Tackling the controversial role of screening and genetics in SCD, the book offers a brief thematic history of approaches to the condition, queries the role of ethnicity and includes a discussion of how the social model of disability can be applied, as well as featuring chapters focusing on athletics, prisons and schools. Bringing together a wide range of original research conducted in the USA, the UK, Ghana and Nigeria, Sickle Cell and the Social Sciences is anchored in the discipline of sociology, but draws upon a diverse range of fields, including public health, anthropology, social policy and disability studies.

Bringing together the most up-to-date information on congenital Mullerian anomalies, this comprehensive text explores advances in understanding the embryological causes of these malformations, the systems used to classify the many types of malformation that may be seen, and the field's current diagnosis, evaluation and management techniques. Surgical strategies, including minimally invasive techniques, are described in detail, with chapters divided into two sections: vertical anomalies, such as imperforate hymen, transverse genital septum, and cervical and Mullerian agenesis; and lateral anomalies, such as septate, unicornate and bicornate uterus, uterus didelphys and obstructed hemivagina. Aimed at helping to maintain the future reproductive needs of the patient utilizing assisted reproductive technologies, this book is an excellent reference for OB/GYN surgeons and reproductive medicine specialists treating both adolescent or adult patients with these congenital malformations.

Containing concise, updated, and easy-to-use summaries on a comprehensive range of clinical scenarios and conditions encountered by paediatricians and multi-disciplinary professionals in their everyday practice, this new edition of Neurodisability and Community Child Health has been substantially revised to be the ideal companion for anyone working with children.

A description of the social, educational, and economic impact of living with a neurological genetic disorder, neurofibromatosis 1. The many unpredictable and potentially stigmatizing possible symptoms of NF1, which range from physical disfigurement to severe learning disorders, may have serious consequences in every aspect of daily life. NF1 was for many years wrongly diagnosed as the Elephant Man's Disease.

Ablon examines the psychosocial costs of this misdiagnosis and the ways in which stage, screen, and television parlayed The Elephant Man into the personification of the grimmist extreme of ugliness. This portrayal engendered fear and anxiety for affected persons and their families and also had an impact on the scientific and medical communities. Ablon analyzes the factors that affect individual positive adaptation to NF1 and the demands of American society, and offers suggestions for families, support systems, and health care providers for treatment of affected individuals.

Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder. Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines, and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular and gene therapies. Duchenne Muscular Dystrophy will be essential reading not only for scientists and clinicians, but will also appeal to therapists and other professionals involved in the care of patients with muscular dystrophy.

The most comprehensive guide available on hereditary cancers, from understanding risk, prevention, and genetic counseling and testing to treatment, quality of life, and more. Up to 10 percent of cancers are caused by inherited mutations in specific genes. Finding out that you or your loved ones may be at increased risk of developing cancer because of a genetic mutation raises a lot of questions: Is cancer inevitable? Is there anything I should do differently in my life? Will my children also be at higher risk of cancer? Should I have preemptive treatments or surgery? This comprehensive guide provides answers to these questions and more. Written by three passionate patient advocates, this book is a compilation of the trusted information and support provided for more than two decades by Facing Our Risk of Cancer Empowered (FORCE), the de facto voice of the hereditary cancer community. Combining the latest scientific research with national guidelines, expert advice, and compelling patient stories, the book offers previvors (those who have a mutation but have never been diagnosed), survivors, and their families the guidance they need to face the unique physical and emotional challenges of living in a high-risk body. An ideal resource for genetic counselors, physicians, nurses, advocates, and others who support and care for the hereditary cancer community, Living with Hereditary Cancer Risk also provides coverage of * signs of inherited cancer risk in a family; * the value of genetic counseling and testing; * mutations in BRCA, Lynch Syndrome, and other genes that elevate cancer risk; * risk-reducing strategies; * traditional treatments and newer personalized approaches, including immunotherapies and PARP inhibitors; * nationally recommended guidelines for prevention, early detection, and treatment; * insurance coverage and discrimination protections; and * coping with sexual health, fertility, menopause, and other quality of life issues.

The essays in this collection examine how human heredity was understood between the end of the First World War and the early 1970s. The contributors explore the interaction of science, medicine and society in determining how heredity was viewed across the world during the politically turbulent years of the twentieth century.

Sickle cell disease (SCD) is a severe chronic illness and one of the world's most common genetic conditions, with 400,000 children born annually with the disorder, mainly in Sub-Saharan Africa, India, Brazil, the Middle East and in diasporic African populations in North America and Europe. Biomedical treatments for SCD are increasingly available to the world's affluent populations, while such medical care is available only in attenuated forms in Africa, India and to socio-economically disadvantaged groups in North America and Europe. Often a condition rendered invisible in policy terms because of its problematic association with politically marginalized groups, the social study of sickle cell has been neglected. This illuminating volume explores the challenges and possibilities for developing a social view of sickle cell, and for improving the quality of lives of those living with SCD. Tackling the controversial role of screening and genetics in SCD, the book offers a brief thematic history of approaches to the condition, queries the role of ethnicity and includes a discussion of how the social model of disability can be applied, as well as featuring chapters focusing on athletics, prisons and schools. Bringing together a wide range of original research conducted in the USA, the UK, Ghana and Nigeria, Sickle Cell and the Social Sciences is anchored in the discipline of sociology, but draws upon a diverse range of fields, including public health, anthropology, social policy and disability studies.

A clear and comprehensive account of how genetic abnormalities, neurobiology, and neuropsychology work together to manifest cognitive-behavioral dysfunction. The authors review the current status of research in autosomal disorders that produce cognitive-behavioral dysfunction and syndromal and nonsyndromal disorders that produce mental retardation. Comprehensive and up-to-date, Genetics and Genomics of Neurobehavioral Disorders integrates the molecular, genomic, neuropsychological, and neurobehavioral factors that produce learning disabilities and mental retardation into a coherent framework for the understanding and assessment of neurobehavioral disorders.

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare genetic disorder that causes blood vessel abnormalities in the nose, skin, gastrointestinal tract, lungs, brain, and liver. Nosebleeds are the most common symptom of HHT, but abnormal vessels in other organs, if they are not diagnosed and treated, can lead to serious medical complications, including stroke, hemorrhage, anemia, and brain abscess. Psychologist Sara Palmer, who has HHT herself and is an expert in helping people cope with health conditions, draws on current research as she thoroughly describes the symptoms of HHT, explains how the diagnosis is made (and often missed), and details treatment options. While addressing the medical aspects of HHT, Palmer also reveals how people affected by the disorder can maintain their emotional health, take care of family members, and live life as fully as possible. Enriched with illustrations, personal stories of people living with HHT, a glossary, and contact information for the HHT Centers of Excellence (which provide coordinated medical treatment for people with the disorder), Living with HHT is a complete resource for individuals with HHT and their families. This guide is also essential for health professionals seeking more information about this underdiagnosed disease.

Debating Human Genetics is based on ethnographic research focusing primarily on the UK publics who are debating and engaging with human genetics, and related bio and techno-science. Drawing on recent interviews and data, collated in a range of public settings, it provides a unique overview of multiple publics as they 'frame' the stake of the debates in this emerging, complex and controversial arena.

The book outlines key sites and applications of human genetics that have sparked public interest, such as biobanks, stem cells, genetic screening and genomics. It also addresses the 'scientific contoversies' that have made considerable impact in the public sphere - the UK police DNA database, gene patenting, 'saviour siblings', and human cloning. By grounding the concepts and issues of human genetics in the real life narratives and actions of patient groups, genetic watchdogs, scientists, policy makers, and many other public groups, the book exemplifies how human genetics is a site where public knowledge and value claims converge and collide, and identifies the emergence of 'hybrid publics' who are engaging with this hybrid science.

Debating Human Genetics is based on ethnographic research focusing primarily on the UK publics who are debating and engaging with human genetics, and related bio and techno-science. Drawing on recent interviews and data, collated in a range of public settings, it provides a unique overview of multiple publics as they 'frame' the stake of the debates in this emerging, complex and controversial arena. The book outlines key sites and applications of human genetics that have sparked public interest, such as biobanks, stem cells, genetic screening and genomics. It also addresses the 'scientific contoversies' that have made considerable impact in the public sphere - the UK police DNA database, gene patenting, 'saviour siblings', and human cloning. By grounding the concepts and issues of human genetics in the real life narratives and actions of patient groups, genetic watchdogs, scientists, policy makers, and many other public groups, the book exemplifies how human genetics is a site where public knowledge and value claims converge and collide, and identifies the emergence of 'hybrid publics' who are engaging with this hybrid science.

There is growing acknowledgement of the importance of interpersonal and communication skills in the training of future physicians. Effective diagnostic and clinical management skills require competency in observing, listening, communicating, problem-solving and negotiating. In addition, the physician needs human relationship skills. It is apparent that a systematic curriculum is needed to teach these clinical skills to medical students and trainees and this handbook provides a practical guide. Each chapter in this book discusses one of the clinical skills in depth. A unique feature of this book is the use of concepts developed in several other disciplines. For example, ideas to learn listening skills are borrowed from industrial management literature. The other unique feature is the inclusion of practical exercises to learn and teach each of these skills. The Appendix outlines ideas on how to organize a course on clinical competency skills and includes a few exercises to start discussion groups. This practical manual is a resource for training of future physicians for competency in the art and practice of medicine. Ideas expressed in this book have been developed, tested and improved over a period of 25 to 30 years with input from trainees and medical practitioners.

Duchenne Muscular Dystrophy (DMD) is one of the most prevalent genetic disorders of childhood and currently stands as an incurable condition. This authoritative guide provides a clear overview of the latest current and experimental approaches to the treatment of DMD and examines the clinical, genetic, and pathophysiological aspects of the disease in the context of emerging therapeutic modalities. The only available source on the subject, this reference emphasizes the importance of accurate diagnosis, carrier detection, and genetic counseling, and supplies state-of-the-art contributions on pharmacological interventions, regenerative medicine, and gene therapy.

Approximately eight to twelve million individuals in the United States are affected by peripheral arterial disease (PAD). Thus this disease is common and well represented in nearly all adult medical practices. Peripheral arterial diseases include diverse clinical entities that encompass atherosclerotic, aneurysmal, vasospastic, and inflammatory disorders that affect the arteries. The Peripheral Arterial Disease Handbook presents a unique compendium of evidenced-based and expert approaches for the diagnosis and treatment of peripheral arterial diseases, written for all practitioners who care for adults with these disorders. This comprehensive, easy-to-use book presents both epidemiological and pathophysiological data in succinct form, along with a practical clinical review of the diagnosis and treatment of the most important areas of peripheral arterial disease care.

This volume begins with a summary of the classical genetic studies and molecular genetic studies of the most common diseases, and indicates what makes them amenable to analysis and treatment. A range of possible future therapeutic options are discussed, from conventional drug targets through to gene therapy. The final chapters assess the value of diagnosis and prediction of the inheritance of various diseases.

This volume offers therapists effective, practical strategies for helping patients overcome the psychological impact of a history of serious illness in the family. Using illustrative case material, the author discusses the feelings of powerlessness that family illness can produce in an individual, and describes techniques for fostering a healthier, more empowered attitude. She shows how various assessment exercises and validation techniques can help the person distinguish between reality and the myths that evolved as a result of the family illness.

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Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on "Gonadotropins, Obesity and Bone" and new research on non-invasive prenatal diagnosis with cell-free DNA. Chapters are thoroughly updated covering steroid disorders, the genetic bases for the disorder and case presentations, This definitive reference belongs in every medical library!

The page-turning, never-before-told story of Kim Campbell's roller-coaster thirty-four-year marriage to music legend Glen Campbell, including how Kim helped Glen finally conquer his addictions only to face their greatest challenge when he was diagnosed with Alzheimer's disease. Kim Campbell was a fresh-faced twenty-two-year-old dancer at Radio City Music Hall when a friend introduced her to Glen Campbell, the chart-topping, Grammy-winning, Oscar-nominated entertainer. The two performers from small Southern towns quickly fell in love, a bond that produced a thirty-four-year marriage and three children. In Gentle on My Mind, Kim tells the complete, no-holds-barred story of their relationship, recounting the highest of highs-award shows, acclaimed performances, the birth of their children, encounters with Mick Fleetwood, Waylon Jennings, Alan Jackson, Alice Cooper, Jane Seymour, and others-and the lowest of lows, including battles with alcohol and drug addiction and, finally, Glen's diagnosis, decline, and death from Alzheimer's. With extraordinary candor, astonishing bravery, and a lively sense of humor, Kim reveals the whole truth of life with an entertainment giant and of caring for and loving him amid the extraordinary challenge of Alzheimer's disease. This is a remarkable account of enduring love, quiet strength, and never-faltering faith.

It is the year 2019, and fear looms in on the world. A deadly virus, one with the ability and venom to wipe away half of the world's 7.8 billion people, or even extinct humanity forever, has emerged. And now, mankind must summon all the strength, knowledge, experiences, science, technology, resilience, courage, and everything else that they have at their disposal, to combat this dark, mysterious, dangerous disease and all its entities. World War III could just end up being between man and the Coronavirus Disease.

The clinical benefits of hormone replacement therapy in women have to be carefully balanced against the possible risks, and a particular theoretical concern relates to risks associated with various forms of female oncology. Because of conflicting reports, gynecologists and oncologists especially need a single, authoritative resource of up-to-date information. Hormone Replacement Therapy and Cancer, published in association with the International Menopause Society, provides the very consensus statement that clinicians need in this difficult and complex area.

Many of the world's leading specialists have contributed important chapters that provide state-of-the-art knowledge about the effects of hormones on women and possible cancer risks. The introductory section deals with carcinogenesis, and the other main sections cover HRT and breast cancer, endometrial cancer, colon cancer, melanoma and epithelial ovarian cancer. The concluding chapters discuss the benefits and risks of specific therapies. An authoritative clinical reference with extensive bibliographic references and index, Hormone Replacement Therapy and Cancer covers all aspects of HRT and cancer based on the research available up to June 2001.

This thoroughly revised and updated reference addresses the drugs and chemicals causing malformations and congenital anomalies in the human fetus-comprehensively reviewing experimental studies in animals and clinical data on human development, primarily in the organogenesis period. Addressing current public health concerns over teratogens, Chemically Induced Birth Defects, Third Edition covers and condenses the 2500 new publications on developmental toxicology that appear every year. Provides comprehensive identification of teratogens by chemical, generic, and trade names. Chemically Induced Birth Defects, Third Edition -discusses the interrelation of over 4100 chemicals in current use, still in the experimental stage, or now obsolete -covers recently available drugs, such as misoprostol and fluconazole -utilizes the latest Good Laboratory Practices-conducted studies to evaluate specific agents -investigates up-to-the-minute impairments of maternal homeostasis that may lead to teratogenesis -surveys chemicals by use, distinguishing medicinals from industrial chemicals -elucidates recent research on chemicals linked to endocrine disruption -and more! Containing over 10,000 citations from the literature, Chemically Induced Birth Defects, Third Edition deserves a place on the bookshelves of all toxicologists, teratologists, pediatricians, obstetricians, gynecologists, environmentalists, biochemists, oncologists, pharmacologists, endocrinologists, and upper-level undergraduate, graduate, and medical school students in these disciplines.

This is a complete, medically reliable dictionary of congenital malformations and disorders. As the authors explain, "Down syndrome is the only common congenital disorder; the other defects and disorders are rare or very rare, some having been reported fewer than 20 times worldwide." This dictionary covers them all. Examples: Aagenaes syndrome is due to congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant-cell hepatitis with fibrosis of the portal tracts. Acrocallosal syndrome is characterized by total or partial absence of the corpus callosum, craniofacial dysmorphism, polydactyly, and severe mental retardation. Other features can be retinal pigmentation anomalies, optic atrophy, strabismus, nystagmus, cleft lip and palate, cardiovascular anomalies, hernia, abnormal nipples, and fits. Acrodysostosis is characterized by prenatal growth deficiency, brachycephaly, deformities of the humerus, radius and ulna, short and broad hands, hypoplastic maxilla, and mental retardation.