Shéri Brynard has reached many remarkable milestones, although she was born with Down Syndrome. She talks about how love and acceptance from her family and friends formed her. She tells of her adventures, her pain and the harsh realities she has to face as an adult with Down Syndrome. Her mother tells the tale of living in Shéri’s shadow, speaking without holding back about her crisis of faith when she heard that her daughter had Down Syndrome. A touching tale.

The riveting true story of John and Aileen Crowley's race to find a cure for Pompe disease that inspired the movie Extraordinary Measures

With three beautiful children, a new house, and financial security, John and Aileen Crowley were on top of the world--until their two youngest children, fifteen-month-old Megan and five-month-old Patrick, were diagnosed with Pompe disease and given only months to live. Refusing to accept a death sentence, John quit his financial consultant job and invested his life savings in a biotechnology start-up to research the disease and find a cure. Battling scientific setbacks, conflict of interest accusations, and business troubles, John and Aileen would be tested to their limits as they valiantly fought, and succeeded, in finding revolutionary new treatment for the disease--offering hope to Megan, Patrick, and the many children and families affected by Pompe disease around the world.

The inspiration for the captivating film Extraordinary Measures, starring Brendan Fraser and Harrison Ford, The Cure is a remarkable true story of cutting-edge science, business acumen and daring, and one family's indomitable spirit.

Wyburn-Mason syndrome. Ever heard of it? Dan Jeffries has, and his insightful and hilarious memoir explores what it's like living with one of the world's rarest medical conditions - and then finding out you have another one. Told through an innovative new approach that combines the traditional reading experience with modern technology, Me, Myself & Eye really lets the reader delve into Dan's life story. Use your smart-phone, tablet or computer when you're reading the book to look at family photos, medical documents, scans, videos and even listen to music he's written over the years. Me, Myself & Eye is a memoir that is both fascinating and insightful, told with a fresh, honest and unique voice.

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.

This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD. Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers. The book presents a clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. It includes separate, comprehensive sections on IEM classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques. Two new chapters were added, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.

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 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.

This is a most valuable contribution to paediatric diagnosis which highlights the importance of this essentially visual method in the study of practical paediatric problems. Each topic consists of a concise, informative and scholarly text supported, where appropriate, by key references, many giving a historical perspective. There are over 400 high quality colour plates with descriptive legends, many of which analyse in some detail the individual features of a face regarded as abnormal or dysmorphic, often a necessary practical prerequisite to establishing a definitive diagnosis. The importance of recognising subtle expressive changes and 'facial signals' is considered in relation to emotional disorders. Throughout, the book is leavened by tables listing important diagnostic clues, cranio-facial or otherwise.

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.

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.

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.

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.

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!

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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This book presents the latest developments in medicine and biology. Chapters include research on trends in the birth prevalence of boys with isolated hypospadias and undescended testis in Hungary during the last 50 years; alleviating premenstrual syndrome (PMS) symptoms using a natural factor; neutralization-enhancing RF antibodies; advances in the diagnosis, assessment, management and outcome of Takayasu's arteritis; macronutrients and premenstrual syndrome; pressurised intraperitoneal aerosol chemotherapy (PIPAC); the control of MAO expression; and what we know about iMAO.

'A big-picture forecast of how medicine stands on the threshold of a revolution that will radically change all of our lives' The Times Welcome to a revolution in the science of you! This landmark new book from award-winning scientist Daniel M. Davis explores the future of the human body. Imagine taking drugs to help you acquire new skills, or knowing years in advance the precise likelihood of developing specific cancers, or following a diet and health regime tailored to your microbiome, or even having continuous monitoring of your body's workings and well-being. Written by an award-winning scientist, this landmark book shows how these radical and disconcerting possibilities have been made real. It is at once a gripping drama of scientific ingenuity, discovery and collaboration, and a vision of the human body of dizzying complexity and wonder. 'The startling new discoveries...are radically altering our understanding of how we function and what our future holds' BRIAN COX 'Thrilling' BILL BRYSON 'Brilliant' TIM SPECTOR 'Extraordinary' ALICE ROBERTS

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.

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.

The most frequently asked questions that confront the fetal medicine trainee/expert on a daily basis are "Is the finding real or merely an artifact?" and "Is the diagnosis correct?". However, to be able to find the description of an abnormal ultrasound finding in a textbook, one generally has to search by the definite diagnosis, which has not been done as yet. This uneasy feeling was the first factor that directed the layout of Ultrasound of Congenital Fetal Anomalies: Differential Diagnosis and Prognostic Indicators, Second Edition. Copiously illustrated, the book displays fetal anomalies by scanning view and descriptions of all major ultrasound planes, detailing what can be considered a normal view and what cannot. See What's New in the Second Edition: Early detection of fetal anomalies (1214 weeks) Ultrasound in fetal infections and in twins The nuchal translucency issue, the newest intracranial translucency as well as the range of congenital anomalies detectable at this gestational age Expanded coverage of heart anomalies, including arrhythmias and early fetal echocardiography The author's mission continues to be to provide guidance on how to quickly recognize and diagnose congenital fetal anomalies, beginning at the beginning with ultrasound sigh all the way through to final diagnosis.