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.

Moebius syndrome is a rare congenital neurological disorder affecting 2 to 20 out of every 1,000,000 newborns. Patients suffer from total facial paralysis and cannot close their eyes or move them from side to side. Unable to smile, frown or otherwise express emotion, their everyday personal relationships are deeply affected. This memoir of a young woman with Moebius syndrome provides a first-person view of life ""behind the mask.

Congenital spine and spinal cord malformations; Congenital brain malformations (except cortical malformations); Malformations of cortical development; Congenital cystic neck lesions; A simplified approach to pediatric vascular malformations of the head and neck; Congenital face, maxillofacial anomalies; Congenital arterial and venous anomalies of brain, spine and neck; Fetal neuroimaging; Temporal bone malformations; Pediatric orbit; Neurosurgeon's perspective to congenital brain and spine malformations

Clinical Diagnosis of Congenital Heart Disease is the latest edition of this comprehensive, highly illustrated guide to the diagnosis of congenital heart disease. Divided into 31 sections, each chapter discusses a different aspect of congenital heart disease, clearly explaining history, assessment, imaging, clinical diagnosis and management techniques. This third edition has been fully revised to provide the latest advances in the field, with in depth discussion on new diagnostic modalities. Each topic concludes with a summary of key points, and includes schematic diagrams depicting abnormal anatomy and its pathophysiological consequences. Key Points Highly illustrated guide to diagnosis of congenital heart disease Fully revised, third edition with in depth discussion on new diagnostic modalities Each topic features a summary of key points and schematic diagrams of abnormal anatomy Previous edition (9789351529125) published in 2015

This book is an an up-to-date survey and summary of present knowledge and future expectations regarding the environmental causes of congenital malformations in human beings, beginning with the earliest discoveries of the 20th century up to the latest ideas and problems at its end, presents views and comments on the progress made over the century in understanding human prenatal maldevelopment.

Tetralogy of Fallot is the most common form of cyanotic congenital heart disease, and one of the first to be successfully repaired by congenital heart surgeons. Although "fixed", patients born with tetralogy of Fallot cannot be considered "cured". Improving survival and quality of life for this ever-increasing adult population will continue to challenge the current and future generations of cardiologists. Adult patients with tetralogy of Fallot should be seen by a cardiologist specializing in the care of adults with congenital heart disease, to be monitored for late complications. They need to be checked regularly for any subsequent complications or disturbances of heart rhythm. This monograph is intended as both an introduction to the subject and a timely, comprehensive review, and will be welcomed by adult cardiologists, pediatric cardiologists, internists, surgeons, obstetricians, and intensivists who wish to learn about the most recent discoveries and advances concerning tetralogy of Fallot in adults. It will also be of interest to advanced undergraduates wanting to learn more about the subject.

In most peroxisomal disorders the nervous system is severely affected which explains the clinical and community burden they represent. This is the first book to focus not only on the mutations causing these inherited illnesses, but also on mechanisms that regulate, suppress or enhance expression of genes and their products (enzymes). Indeed since the success and completion of the Human Genome Project all genes (coding DNA sequences) are known. However, of many, their function, and the role of the gene product has not been determined. An example is X-linked adrenoleukodystrophy, the most frequent peroxisomal disorder. Children are born healthy, but in more than 1 out of 3, demyelination of the brain starts unpredictably and they die in a vegetative state. The gene mutated in most families has been known for 10 years; but the true role of the encoded protein, ALDp, is still speculative; and within the same family, very severe and asymptomatic clinical histories co-exist, unexplained by the mutation.

Teratology is the study of chemical-induced birth defects. This book is a comprehensive guide to the procedures and methods commonly employed in the safety testing of all classes of chemical for teratogenicity (also referred to as embryotoxicity, developmental toxicity or prenatal toxicity). The various international regulatory requirements are explained in detail, in order that the reader may perform all of the necessary studies for the successful registration or marketing authorisation of a new pharmaceutical, industrial chemical, crop protection product or food additive. Written in the highly successful Methods in Molecular Biology (TM) series format, each chapter gives clear complete instructions on how to perform the task in hand. The authors are respected experts in their field, all with hands-on experience of the procedures described. Teratogenicity Testing: Methods and Protocols gives crucial guidance and tips on how to deal with unexpected results and overcome regulatory difficulties.

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.

This detailed book presents a comprehensive collection of state-of-the-art protocols on muscular dystrophy therapeutics, covering therapeutics using antisense oligonucleotides, gene replacement, genome editing, small molecules, stem cells, and antibodies. Written by leaders in the field, the volume explores techniques that are currently in use and are starting an exciting therapeutic revolution in muscular dystrophy. As a part of the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step and readily reproducible laboratory protocols, as well as tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Muscular Dystrophy Therapeutics: Methods and Protocols serves as an ideal resource to inspire readers and provide tips, strategies, and advice to develop new therapeutic technologies for this group of diseases.

Major advances in the diagnosis and treatment of oral clefts have been made in the past 50 years, and recent genetics and epidemiological studies have led to new theories about the causes of cleft lip and palate. Addressing issues that are relevant to clinicians, researchers and family members, this book is a comprehensive, well-illustrated, and up-to-date account of the many facets of this common disorder. The authors describe the embryological and molecular mechanisms of cleft causation, present and illustrate the genetic and epidemiological methods used to identify risk factors for oral clefts, and describe treatments by the various professionals of the cleft team. A section is also devoted to the integration of research findings into public health practice, including ethical and financial considerations. The book draws together such diverse disciplines as craniofacial development, gene mapping, epidemiology, medicine, ethics, health economics, and health policy and management, and it will be an invaluable reference work.

This book is devoted solely to the tricuspid valve and its role in congenital heart disease. Tricuspid valve anomalies are part of the pathological spectrum in various congenital heart diseases, including Ebstein anomaly and tricuspid valve dysplasia, with different pathophysiology and clinical implications. This book covers all relevant aspects of such anomalies, including diagnosis, therapy and follow-up. Further topics addressed include the way in which the tricuspid valve may become the "systemic" valve in some congenital diseases, with important consequences and the involvement of the tricuspid valve in the right-sided heart complications often seen in adults with congenital heart disease. All of the chapters are written by internationally recognized experts and are designed to deliver state of the art knowledge of practical value. This book will be an important addition to the library for surgeons, cardiologists and other practitioners involved in the management of patients with congenital heart disease.

Inherited disorders of the kidney are becoming important, not only in pediatric nephrological practice, but also in adult nephrology, representing a high proportion of patients with end-stage renal failure. In almost 50% of all children and in 15% of adults accepted for renal replacement therapy, the causative disorders have a hereditary basis. Many of these disorders are apparent at birth but may not cause renal failure until adolescence. Others may not present until adult life. The contribution of these disorders to adult nephrological practice has so far been understated in most of the existing textbooks. This book presents a practical approach to the investigation and management of patients with inherited renal disorders. The book is aimed at both established pediatric and adult nephrologists, as well as nephrologists in training, and will also be of interest to pediatricians, geneticists, and research workers in this field.

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.

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.

Dana Creighton and her mother both were affected by the same inherited cerebellar degeneration, known as ataxia--a loss of control over body movements. Both were treated by a healthcare system that failed them in different ways. Yet their experiences with ataxia were disparate. Where Creighton eventually found the right tools to piece together meaning and purpose in her life, her mother resisted accepting the reality of her condition, in part because doctors repeatedly said nothing was wrong with her. Twenty-five years after her mother's suicide, Crieghton's memoir finds striking similarities and differences in their lives and traces a lineage of family trauma. Drawing on research in neuroplasticity, medical records, personal correspondence and genealogy, her narrative highlights the gap between the lived experience of debilitating ailment and the impersonal aims of clinicians, and shows how the stories parents tell themselves about living with a genetic disorder influences how they communicate it to their children.

Dr. Perloff, the founding father of the field of adult congenital heart disease, presents a decade's worth of research and clinical data in the completely redefined 3rd edition to bring you the most current information. With advances in diagnosis and treatment in children, more and more of those with CHD survive well into adulthood. Expert contributors in various fields offer a multi-disciplinary, multi-system approach to treatment so you get comprehensive coverage on all aspects of the subspecialty, including basic unoperated malformations, medical and surgical perspectives, postoperative residue, and sequelae. As someone who treats these patients, you need to be ready to provide the continual care they require. Conveys a multidisciplinary, multi-system approach to the lifelong care of adult CHD patients to put treatment in a broader context. Presents information in a consistent, logical style so the information you need is easy to find and apply. Supplements the text with 600 clear conceptual illustrations to clarify difficult concepts. Features completely rewritten chapters to include the latest developments in the field-such as major advances in surgical and interventional techniques-and the various needs of patients with adult CHD. Incorporates recently published trials such as those involving cyanotic CHD and atherogenesis, coronary microcirculation, and pathogenesis of thrombocytopenia to supplement the chapter on cyanotic CHD. Emphasizes advances in imaging in a new section-edited by an expert-that covers echocardiography as well as specialized imaging techniques. Illustrates the full range of advances in the field with 600 images that reflect the latest progress. Includes new chapters-Global Scope of ACHD; Cardiac Transplantation; Electrophysiologic Abnormalities in Unoperated Patients and Residue and Sequelae After Cardiac Surgery-to provide you with the latest information on the growth of the subspecialty and its effect on treatment. Presents revisions by a new authorship of experts in infectious disease, genetics and epidemiology, sports medicine, neurology, cardiac surgery, cardiac anesthesiology, and more.

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.

The third edition of Human Malformations and Related Anomalies is a comprehensive reference and clinical guide to significant human malformations. Authored by 40 authorities in genetics and dysmorphology, this streamlined new edition offers an authoritative and richly illustrated guide to clinical presentation, associated anomalies, treatment, and prognosis.

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.

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.

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

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.