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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.
Physicians often have only partial knowledge of common congenital hand and upper extremity anomalies and their associated syndromes. Surgeons typically find these syndromes to be abstruse and congenital hand conditions can represent an enigma even to pediatric geneticists. This book is designed to serve as a practical, up-to-date reference that will enable practitioners and students in a variety of disciplines to easily recognize the most common congenital upper extremity anomalies and syndromes. In total, 37 congenital upper extremity anomalies and 124 syndromes are discussed. Salient and common presenting features are described in detail and illustrated with the aid of high-quality digital color photographs whenever possible. In addition, relevant background information is included on such aspects as prevalence, etiology, pathogenesis and findings elsewhere in the body.
This comprehensive atlas is unique in combining information on the embryological development of the human with detailed presentation of the congenital malformations encountered in clinical practice. As a consequence it will not only assist practitioners and trainees in recognizing and evaluating malformations, but also enable them to understand how a malformation has developed and to explain the mystery of congenital malformations to relatives and patients. The book is organized according to anatomic region, with additional chapters on hernias, tumors, lymphogenesis and lymphatic malformations. According to WHO statistics, each year congenital anomalies result in approximately 3.2 million birth defect-related disabilities worldwide. All too often, however, training in embryology is now a neglected area, and medical graduates frequently lack confidence in their knowledge of the field. Clinical Embryology: An Atlas of Congenital Malformations will help to rectify this deficit and to ensure that malformations are comprehended and managed appropriately. It will be of value for postgraduate trainees in pediatric surgery, pediatrics, and neonatology, undergraduate medical students, and general practitioners/family physicians.
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).
This book presents the latest developments in medicine and biology. Chapters include research on environmental risk factors for diabetic nephropathy; pre-endoscopic management of patients with hematemesis; the benefits of early diagnosis, halo fixation and/or ventral stabilization of dens-fractures in correspondence to age of the patient and fracture type; a discussion on how and to which extent heart rate variability (HRV) is acutely changed in diabetic ketoacidosis (DKA) or in hyperglycemic hyperosmolar syndrome (HHS); an evaluation of the anatomical, refractive and functional results of an innovative technique of deep anterior lamellar keratoplasty; the physical, emotional and quality of life aspects of patients with Cervical Dystonia; the current issues in medical literature regarding androgen use during menopause; an overall report on the benefits and limitations of human milk oligosaccharides (HMOs) mass spectrometry (MS) analysis; the classification methods of the X-ray cerebral angiograms; and the diagnosis and management of intraoperatively necrotizing fasciitis of the breast.
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.
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.
Bart Gee was born with a rare physical disability called Arthrogryposis which means that he has weak muscles and stiff joints. After Bart was born, doctors said he would never walk and may not ever have the strength to be able to sit up independently, and he would have a bleak outlook to life. Bart was brought up in a Christian family and he made the decision to become a Christian himself when he was 5 years old. At a very young age, the pastor of his church prophesied to his parents saying, "Little by little he will be able to do more and more new things that will amaze people." The pastor prayed for two things specifically: firstly, that Bart would one day be able to physically walk down the aisle of the church, and secondly, that Bart would be able to play the organ like his father. This is Bart's story of how those prayers would be answered.
Incisional hernia (IH) represents a postoperative abnormal orifice or weakness in the abdominal wall through which normally contained viscera protrude beneath the skin. This book examines the risk factors, prevention methods, and management options for incisional hernias. It also provides a biomolecular basis of IH; discusses the loss of abdominal domain; examines preoperative techniques for the management of giant hernias; studies intraabdominal pressure modification in "component separation" techniques for the repair of incisional hernias; reviews the incidence, and repair of IH after abdominal organ transplantation; and finally, provides an overview of the diagnostic, prognostic and therapeutic implications of right sided congenital diaphragmatic hernias (CDH).
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.
Test your knowledge or prepare for Boards with this collection of unusual and challenging patient studies focused on detecting valvular, congenital or vascular disease. * Contains over 90 case histories with self-test questions designed to test the reader s knowledge and reinforce clinical best practices * Focuses on diseases of valvular, vascular or congenital origin, and on comparatively rare disorders/diseases, rather than coronary artery disease, to help readers improve their skills at interpreting and making decisions based on physical examination and basic, non-invasive imaging modalities * Each case is paired with original materials - e.g. x-rays, echocardiograms, lab reports, charts so readers can work through their diagnosis using the same information as the physician who treated the patient originally * An ideal companion for those approaching board review or recertification or who want to improve skills in physical diagnosis of cardiovascular disease
In this book, the authors present topical research in the study of the causes, types and treatment options for dysplasia. Topics discussed include colonic polyps and hereditary polyposis syndromes; developmental hip dysplasia; the causes and treatment options for bone dysplasia; a discussion on whether elevated intracellular chloride causes epilepsy in cortical dysplasia and dysplasia in ulcerative colitis.
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.
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 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.
2014 BMA Medical Book Awards 1st Prize Award Winner in Illustrated Book category and Highly Commended in Paediatrics category! Smith's Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders of unknown cause. This esteemed medical reference book provides you with complete and authoritative, yet accessible guidance to help accurately diagnose these human disorders, establish prognoses, and provide appropriate management and genetic counseling. Recognize the visual signs of each environmental and genetic abnormality by consulting more than 1,500 full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones. Find all the answers you need about normal and abnormal morphogenesis, minor anomalies and their relevance, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of human malformation syndromes. Efficiently identify genetic disorders in your patients with the inclusion of nearly 20 recently recognized entities/syndromes, as well as new chapters on Microdeletions and Microduplication Syndromes. Available digitally for the first time! You can now access Smith's as an eBook or online at Expert Consult.
CHOSEN BY MAGGIE O'FARRELL IN THE GUARDIAN AS ONE OF HER BEST BOOKS OF THE YEAR 'It's a slice of a life . . . a complex, intelligent, beautiful, thoughtful, rather lyrical book' -Cathy Rentzenbrink, author of The Last Act of Love 'A moving treatise on inheritance, not just of a disease like cystic fibrosis, but of our attitudes to living and loving, our sense of cultural and familial landscape, and how these intangibles pass down through generations. Stevenson picks apart her life like a strand of DNA to uncover just how we become the sum of our parts' Daily Telegraph 'A beautiful memoir . . . [Stevenson] is a novelist and a translator and her memoir is about translation in the larger sense. Translating the world is what we all do but she reminds us that one can hope - with a mind as intricately well read and original as hers - to translate misfortune; to absorb and see beyond it . . . Stevenson makes of poetry, fiction and philosophy a protective shawl for her story . . . Although intense she has a carefree wit' Kate Kellaway, Observer 'Motherhood, medicine and music are explored with a spellbinding intensity. It is a beautifully written and entirely honest memoir... Stevenson acknowledges the pain and overwhelming melancholy of being the mother of a sick child but she also manages to wholeheartedly celebrate the life of her family, who are still determined to live as luminous a life as possible, to make a kind of poetry out of the everyday' Eithne Farry Sunday Express 'Stevenson is a writer and musician, and her memoir is distinguished by its ravishing prose and sensitive understanding of the role that loss, misfortune and grief play in the story of our lives' Jane Shilling, Daily Mail 'Love Like Salt is a human triumph ... it's all told in the most mesmerising of words, no adjective is extraneous and Love Like Salt flows with poetic precision ... Ultimately, Love Like Salt follows in the hallowed footsteps of Helen MacDonald's brilliant H is for Hawk or Cathy Rentzenbrink's The Last Act of Love. These are not misery memoirs but reminders that life comes in all shades - that in the darkest moments, beauty and humour can be found' Francesca Brown, Stylist 'Did Clara taste salty when I kissed her? She did. She tasted of mermaids, of the sea.' Love Like Salt is a deeply affecting memoir, beautifully and intelligently written. It is about mothers and daughters, music and illness, genes and inheritance, writing and story-telling. It is about creating joy from the hand you've been dealt and following its lead - in this case to rural France, where the author and her family lived for seven years. And back again. 'I had always written, and until the birth of Clara I wrote for a living. Once I knew the Cystic Fibrosis gene had unfolded itself in our daughter's body, like a paper flower meeting water, I felt that to write, even if I had had time, or been able, would have been to squander a kind of power which was needed for tending and nurturing. Every moment became a moment in which I protected my baby. Some of it I did in secret, like a madwoman muttering spells. I thought of her as a candle, cupping my hand around her. A beautifully written memoir, in the vein of H is for Hawk and The Last Act of Love, about motherhood, music and living the best life you can, even in the shadow of illness.
This monograph on the adult with tetralogy of Fallot (TOF) is the first of a series dedicated to common topics in adult congenital cardiac disease (CHD). Published under the auspices of the International Society of Adult Congenital Cardiac Disease (ISACCD), the monograph provides comprehensive, timely review of the adult with TOF, the most common form of cyanotic CHD. The 6 chapters of the monograph, written by international authorities in the field, contain background information and current data on the major clinical problems facing adults with TOF.Patients born with TOF, although 'fixed,' are not 'cured'. Improving survival and quality of life for this ever-increasing adult population will continue to challenge the current and future generations of cardiologists. This monograph is intended as both an introduction to the subject and a timely, comprehensive review, more extensive than a review article and more up-to-date than a textbook. As such, this monograph should be of interest to the internist and the cardiologist who find themselves encountering adults with congenital heart defects with increasing frequency in their practice. Key references provided at the end of each chapter present the relevant literature, allowing for further reading.
The rapid advances in medicine over the last 50 years have totally changed the outlook for children with disorders of sex development (DSD), but there is still much to learn. This book crystallizes the combined experience of a leading dedicated unit over 25 years in delivering expert medical and surgical care to children with DSD in a holistic environment. It documents the most recent advances in the molecular biology and embryology of sex development, and describes each disorder in detail. The clinical presentation and approach to diagnosis are described both for babies and for children presenting later in childhood or at adolescence. The chapters on management highlight all the latest knowledge and include the shared wisdom of the authors on current controversies, such as the timing of surgical treatment. Finally, the authors describe their short-, medium-, and long-term outcomes, which demonstrate the strengths of holistic team management.
Fragile X syndrome is one of the main causes of child developmental delay and autism spectrum disorders. A premutated form of the same gene is also the basis for neurological disabilities in adults. This book breaks down the complex science of this genetic disorder and provides the facts and advice that every bewildered parent or professional needs to support individuals with Fragile X syndrome. This is a straightforward introduction that clearly explains the condition on both a scientific and practical level. With sections on diagnosis, symptoms and treatment, as well as discussions of various emotional and behavioural considerations, this guide covers all aspects of Fragile X syndrome, its implications, and the possibilities open to families affected by it. It demonstrates how, with the right therapies, progress can be made and emphasises how music can be used effectively to promote communication, interaction, fine motor skills and responsiveness in children with the condition. This is an essential reference tool for families of individuals with Fragile X syndrome, as well as therapists and healthcare professionals who are unfamiliar with the condition and are looking to find out more.
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.
A practical approach to the investigation and treatment of adult congenital heart disease (ACHD), this fully updated Oxford Specialist Handbook is a concise and accessible overview of a complex condition. Packed with straightforward advice, management strategies and key clinical points, it equips clinicians with a sound understanding of the principles and physiology of ACHD. An ideal reference tool for cardiology trainees, general cardiologists and acute medicine physicians, this second edition of Adult Congenital Heart Disease has been fully reviewed to include new guidelines and increased illustations to aid understanding. Brand new chapters on epidemiology, heart failure, device therapy and transition and transfer of care ensure that Adult Congenital Heart Disease remains the definitive guide to supporting clinicians throughout all aspects of the patient's care.
This new book reviews the latest advances in the embryology, genetics, diagnosis, imaging, and therapy of congenital heart disease. The international cast of authors has combined its talents to produce a unique, expert perspective. This publication arrives at a very exciting time when new genetic, imaging, and therapeutic developments are changing the field. It is relevant to pediatricians, internal medicine specialists, medical geneticists, both pediatric and adult cardiologists, embryologists, imaging physicians, and cardiac surgeons. The reader is taken on a journey that begins with a historical overview of congenital cardiovascular anomalies and ends with developments in stem cell and tissue engineering. In between are chapters on cardiac embryogenesis; epidemiology; genetic syndromes associated with cardiovascular anomalies; single gene disorders; cardiac imaging; surgical and interventional therapies; and ethical considerations. 'Congenital Heart Disease' is an invaluable reference. In short, it provides essential information to create a comprehensive resource for all physicians involved with the diagnosis and treatment of cardiac malformations.
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.
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