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.

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.

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.

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.

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.

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.

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 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.

The indispensable guide to all aspects of clinical care, the Oxford Handbook of Endocrinology and Diabetes has been fully updated for its fourth edition, providing comprehensive coverage of both disciplines in a practical and concise format. Featuring new chapters on transition in endocrinology and diabetes, practical nursing considerations, and the genetics of endocrinology, and expanded sections on inherited endocrine syndromes and MEN, it retains the clear organisation and layout for ease of reference as the previous edition over a broader range of topics. Combining authority, relevance, and reliability, this title includes new therapies and guidelines alongside 'clinical pearl' and 'tricky situation' boxes to aide readers in rare or complicated situations. This is the must-have guide for all trainees and specialist nurses in endocrinology and diabetes.

Destined to be the definitive reference in this complex surgical area, Endoscopic Craniosynostosis Surgery is the first single resource to offer complete coverage of techniques, outcomes, complications, and results when treating patients with craniosynostosis endoscopically. Dr. David F. Jimenez, a pioneer in the field who has developed minimally invasive endoscopic surgeries to treat very young infants with this condition, provides all appropriate data and detailed guidance on every aspect of the management of craniosynostosis using endoscopic techniques. Covers the surgical management of every type of single suture synostosis as well as multiple and complex synostosis. Presents surgical techniques in depth, with a complete review of short- and long-term outcomes and results. Provides detailed information on patient anesthesia and how to set up the operating room for surgery. Includes detailed descriptions of helmets and their management. Features hundreds of radiographs, clinical photos, and procedural illustrations, as well as procedural videos. Discusses complication avoidance, provides surgical pearls throughout, and supplies patient information online. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access bonus images plus all of the text, figures, and references from the book on a variety of devices.

Cheese puffs. Coffee. Sunscreen. Vapes. Hand sanitiser. George Zaidan reveals the weird science behind everyday items that may or may not kill you, depending on whom you ask. If you want easy answers, this book is not for you. But if you're curious which health studies to trust, what dense scientific jargon really means, and how to make better choices when it comes to food and health - dive right in! Zaidan makes chemistry more fun than potions class as he reveals exactly what science can (and can't) tell us about the packaged ingredients we buy in the supermarket. He demystifies the ingredients of life and death - and explains how we know whether something is good or bad for you - in exquisite, hilarious detail at breakneck speed. PRAISE FOR INGREDIENTS 'If you ever thought that chemistry might be really interesting (it is), but your eyes glazed over in high school chem class, this is the book for you. George Zaidan will keep you laughing out loud as he shares the wonders of our most useful, practical science, with brilliant analogies that even an 11-year old can understand.' Daniel J. Levitin, author of Successful Aging and This is Your Brain on Music 'If you crossed Bill Nye with Stephen Colbert, you'd get George Zaidan. Ingredients is a masterful piece of science writing.' Daniel H. Pink, author of When and Drive 'Ingredients lifts the film from our eyes with humour and reassurance.' Hank Green, author of An Absolutely Remarkable Thing 'At last, a book on nutrition that tries to make you understand how little we know instead of offering blanket prognostications. If instead of a simple solution, you want a guide to how to think about health, this is it.' Zach and Kelly Weinersmith, New York Times best-selling authors of Soonish 'Ingredients, is everything that should lead you to expect: funny, edgy, fascinating, dismaying, reassuring, and overall just incredibly smart.' Deborah Blum, Pulitzer prize-winning author of The Poison Squad 'You should buy Ingredients because it teaches you how to think better - like a smart, informed, and wickedly funny scientist.' Sam Kean, author of The Disappearing Spoon 'Omfg this book is FABULOUS! It's hilarious, insightful, sassy, and reassuring. A delightful roller-coaster of science communication.' Kallie Moore, Co-host of PBS Eons

A number of books have been written relating to congenital heart disease, but generally, they reflect individualised medical management of local practice and philosophies. Although this book assumes a prior working knowledge of congenital heart disease, it aims to provide the reader with a reference guide to be utilised at the bedside. The main aspiration of this book is to provide a comprehensive, affordable guide for paediatric, neonatal and adult nurses of young people with congenital heart disease, in this highly challenging speciality. This book is primarily written for nursing staff focusing on a multidisciplinary team approach to managing children. It is also a valuable tool for community staff, dieticians, doctors, neonatal staff, perfusionists, pharmacists, physiological measurment technicians, physiotherapists, psychologists, social workers, theatre staff, and other personnel who come into contact with this group of children.

Hypospadias is recognised as one the most common congenital malformations in male newborns, resulting in an abnormal opening of urethral meatus. It is regarded as a multifactorial disorder in which interactions between genetics, maternal and environmental factors lead to hypoplastic development of the ventral side of the penis, either dependently or in an interaction with other factors. This book discusses the risk factors of hypospadias. It also examines the epidemiology and surgical outcomes of hypospadias.

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.

Arteriovenous malformations (AVM) represent some of the most complex and challenging pathologies for the modern physician to properly diagnose and manage. In this comprehensive guide, we detail the natural history, diagnosis and management of AVMs. The first eight chapters are dedicated to brain AVMs. Chapter 1 describes the natural history of brain AVMs, the understanding of which is crucial to deciphering the relative risks and benefits of AVM treatment. Chapter 2 focuses on the surgical treatment of brain AVMs. Chapters 3 and 4 delineate the role of endovascular embolization in the management of brain AVMs. Chapter 5 analyzes the outcomes of stereotactic radiosurgery for Spetzler-Martin grade III AVMs, which are the most heterogeneous subgroup of AVMs. Chapter 6 describes the role of stereotactic radiosurgery for large brain AVMs, which are notoriously difficult to safely and effectively treat by any means. Chapter 7 focuses on heavily charged particle beam radiosurgery for brain AVMs. Chapter 8 puts it all together by analyzing the relationships and interactions among the different treatment modalities for brain AVMs; when utilized synergistically, the morbidity of each therapy is minimized while its maximum benefit is extracted. The last two chapters are dedicated to Osler-Weber-Rendu syndrome, also known as hereditary hemorrhagic telangiectasia (HHT). Chapter 9 describes the genetics, pathogenesis, and management of HHT, with a focus on the diagnosis of pulmonary AVMs. Chapter 10 evaluates the role of endovascular intervention in the treatment of pulmonary AVMs.

More than 350,000 individuals in the United States alone are affected by Down syndrome, a genetic disorder related to the presence of an extra copy of chromosome 21. Down Syndrome: Visions for the 21st Century is designed to provide a comprehensive and up-to-date treatment of the current issues of self-determination, education, and advocacy, as well as the most recent research developments.

Providing a comprehensive survey of the clinical, educational, developmental, psychosocial, and transitional issues relevant to people with Down syndrome, the book is structured to meet the needs of parents and professionals alike. The controversial topics of alternative and nonconventional therapies are included alongside the best practices of top experts in the fields of family support, supported living, and life in the community. Down Syndrome incorporates the newest developments concerning issues of sexuality, inclusion, transition into adulthood, and legislation and features a discussion of the implications of the Human Genome Project and the sequencing of chromosome 21. The book comprises ten chapters covering:

• Self-Determination
• Self-Advocacy
• Advocacy
• Role of the Family
• Health and Clinical Care
• Research
• Psychosocial Issues
• Education/Inclusion
• Communication, Math, and Language Skills
• Turning the Vision into Reality

Down Syndrome: Visions for the 21st Century assumes the stated mission of the National Down Syndrome Society: to ensure that all individuals with Down syndrome are provided the opportunity to achieve their potential in community life. Parents, family members, individuals with Down syndrome, advocates, educators, and physicians will benefit from this peerless guide.

The book starts with a short introduction to the topic, followed by a detailed description of the anatomical differences between exstrophy and gastroschisis. In the following chapters, the authors describe the surgical umbilicoplasty for congenital defects in children. Outcomes and complications will be discussed in the last chapter. Written by respected authors, this book will offer residents and fellows as well as practicing and highly experienced plastic surgeons essential guidance on treatment and decision-making concerning umbilical reconstruction. Its numerous illustrations and clearly structured content make the book a must-read.

A comprehensive work written by driving forces in the field, defining the
essentials of congenital heart disease.

Over the last 50 years, tremendous strides have been made in the treatment
of congenital heart disease. Many patients with congenital heart disease
are now reaching adulthood and seeking medical care from cardiologists,
internists, and family practitioners who do not historically deal with
congenital heart disease. Written by two acclaimed authorities and
educators in the field, Jesse E. Edwards' Synopsis of Congenital Heart
Disease provides these physicians with a richly illustrated refresher
course, and a handy reference text, in the fundamentals of congenital heart
disease.

In this book, Dr. Jesse Edwards shares his vast experience in a discussion
of the fundamental anatomy and physiology associated with congenital heart
disease. The text provides succinct descriptions of the common and uncommon
abnormalities of congenital heart disease and the principles underlying
their treatment, while 200 figures clearly demonstrate and guide the user to
understand the essential nature of the characteristic defects and
abnormalities discussed.

This book will serve as a unique and useful reference to broaden the
knowledge of adult cardiologists, internists, radiologists, cardiovascular
nurses, nurse practitioners, cardiac catheterization personnel, and other
paramedical professionals who wish to understand more thoroughly the
fundamentals of congenital heart disease.

The indispensable guide to all aspects of clinical care, the Oxford Handbook of Endocrinology and Diabetes has been fully updated for its fourth edition, providing comprehensive coverage of both disciplines in a practical and concise format. Featuring new chapters on transition in endocrinology and diabetes, practical nursing considerations, and the genetics of endocrinology, and expanded sections on inherited endocrine syndromes and MEN, it retains the clear organisation and layout for ease of reference as the previous edition over a broader range of topics. Combining authority, relevance, and reliability, this title includes new therapies and guidelines alongside 'clinical pearl' and 'tricky situation' boxes to aide readers in rare or complicated situations. This is the must-have guide for all trainees and specialist nurses in endocrinology and diabetes.

The Genetic Analysis of Complex Disease provides a comprehensive introduction to the various strategies, designs, and methods of analysis for the study of human complex genetic disease. Chapters present clear and easily referenced overviews of the broad range of considerations involved in genetic analysis of human complex genetic disease. This updated third edition includes a new chapter on next-generation sequencing, copy-number variants and epigenetic analysis, increased emphasis on bioinformatics tools, and a new expanded chapter on complex genetic interactions.

The Understanding PAD chart presents an overall view of the symptoms and causes of Peripheral Artery Disease (PAD). A large graphic shows the vascular system with affected areas. Smaller views accompany the sections on stroke, thrombosis, atherosclerosis, along with blood clotting. Heavy gauge 3ml lamination with sealed edges and two metal eyelets for hanging makes chart highly durable. Write-on/wipe-off with dry erase marker (not included).

Down syndrome is a genetic condition which causes varying degrees of learning disability as well as other health problems. Nearly one baby in every 1000 born in the UK has the condition. Parents are often frightened and confused by the birth of a baby with Down syndrome, and they need reassurance as well as up-to-date information regarding the condition.
The new edition of this highly regarded book for parents of children with Down syndrome covers a number of important new developments in research and clinical practice that have occurred in the field in recent years. These include several newly recognised medical conditions that are known to occur more commonly in patients with Down syndrome, for example, glaucoma, gastrointestinal malformations, feeding difficulties, gastro-oesophageal reflux, coeliac disease, and diabetes. This expanded edition also includes new recommendations regarding routine health checks in line with those of the UK Down Syndrome Medical Interest Group (UKDSMIG). Additionally the book covers new prenatal screening methods which have been developed to identify Down syndrome during pregnancy.

The Understanding PAD chart presents an overall view of the symptoms and causes of Peripheral Artery Disease (PAD). A large graphic shows the vascular system with affected areas. Smaller views accompany the sections on stroke, thrombosis, atherosclerosis, along with blood clotting. Heavy cover stock with protective varnish for durability.