Primary immunodeficiency diseases, first recognized 60 years ago, are inherited disorders that affect human adaptive and innate immunity. In most cases, affected individuals experience recurrent infections, but they may also suffer from autoimmune diseases and malignancies. This third edition of Primary Immunodeficiency Diseases provides readers with the historic and scientific background, clinical presentations, immunologic characteristics, and the molecular/genetic underpinnings of this rapidly enlarging class of diseases. With up-to-date diagnostic tools and therapeutic options - from prophylactic anti-infective measures to hematopoietic stem cell transplantation and gene therapy - this volume will remain an authoritative resource on this increasingly important area.

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.

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.

This invaluable resource discusses insights ranging from basic biological mechanisms of various types of stem cells through the potential applications in the treatment of human diseases, including cancer and genetic disorders. These discoveries are placed within the structural context of tissue and developmental biology in sections dealing with recent advances in understanding different types of stem cell biology and their potential applications in tissue repair and regeneration and in the treatment different types of human cancer and genetic diseases or disorders. Stem Cells for Cancer and Genetic Disease Treatment and the other books in the Stem Cells in Clinical Applicationsseries will be invaluable to scientists, researchers, advanced students and clinicians working in stem cells, regenerative medicine or tissue engineering as well as cancer or genetics research.

The technical advances in molecular biology have endowed us with a wealth of knowledge, which has allowed us to identify the cause of diseases not only at a single gene level but at a greater magnitude, where a substitution or deletion of a single base pair can be identified. Our present task is to establish a clear link between phenotype and nucleotide sequence. Obviously, a gene is no longer an imaginary entity. Recent discoveries in a number of bewildering traits, whose inheritance do not follow simple mendelian rules, have caused much amazement. For example, fragile X-syndrome, spine and bulbar muscular atrophy and myotic dystrophy arise from "triples repeat mutation" and amplification in future generations. Genetic diseases which are inherited, can now be diagnosed prenatally; an idea that was once inconceivable.
The aim of the second volume, entitled Morbid Anatomy of the Genome, is to reflect on the importance of molecular genetics in modern medicine. The field has expanded so as to warrant a volume dedicated exclusively toward understanding those who wish to know the cause, detection and in turn treatment of such diseases. In this volume, I have commissioned several scientists to contribute 12 chapters. A chapter describing a special role of molecular genetics in combating genetic diseases through gene therapy has also been included, while chapter 13 is a commentary.
A complete account of all diseases whose genetic basis is well established would be a herculean task and is not within the scope of a single volume format. Therefore a few specific topics have been chosen which may be of the greatest interest to scientists and clinicians. The purpose of this issue is to keep abreast of the latest developments in a select group of genetic diseases.

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

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.

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.

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.

Mutations and Carcinogenicity.- Mutation Spectrum in Carcinogenicity.- Mechanisms of Chemically-Induced Genetic Effects on Molecular, Chromosomal and Cell Division Level.- Ultraviolet Light Mutagenesis in Bacteria: The Possible Role of a DNA Polymerase III Complex Lacking Proofreading Exonuclease.- Centromere Separation: Emerging Relationship with Aneuploidy.- Genetic Analysis of Genotoxic Effects on Chromosomes and Cell Division in Lower Eukaryotes.- DNA Repair and the Recombination Barrier between Divergent (Homologous) Chromosomes.- Consequences of Altering Tubulin Levels in Yeast.- A Genetic Assay Using Rodent/Human Hybrid Cells to Evaluate the Genotoxic Effects of Chemicals for Multiple Endpoints.- Aneuploidy in Humans.- Adaptability and Repair Mechanisms.- The Adaptive Response to Alkylation Damage in Escherichia coli.- The Adaptive Response of Human Lymphocytes to Radiation or Chemical Mutagens: Cross-Adaptation and Synergism.- Evolving Mutation Rates and Prospects for Antimutagenesis.- Genetic Analysis of DNA Repair Defect in Xeroderma Pigmentosum Cells: Identification of Complementing Genes.- Chemical Carcinogenesis-Oncogenes.- Outline of a Descriptive General Theory of Environmental Chemical Cancerogenesis - Experimental Threshold Doses for Tumor Promoters.- The Interaction of Steroid Hormones and Oncogenes in the Establishment of Malignancy.- The Relationship between DNA-Alkali-Labile Sites and Carcinogenesis in Mammalian Cells.- Structure and Metabolism of Mutagens-Carcinogens.- Quantitative Structure-Activity Relationships, and Mutagens and Carcinogens.- Enzymic Aspects on the Metabolic Activation of Aromatic and Heterocyclic Amine Mutagensin Mammalian and Bacterial Cells.- Biomonitoring and Epidemiology of Humans Exposed to Environmental Mutagens-Carcinogens.- Current Techniques for Human Population Monitoring for Genetic Effects.- Use of Aquatic Animals for Monitoring Genotoxicity in Unconcentrated Water Samples.- Cytogenetic Monitoring of Industrial Workers Exposed to Chemicals.- Monitoring Congenital Anomalies in Populations Exposed to Environmental Mutagens.- European Community Research on Genetic Effects of Environmental Chemicals and on Biomonitoring of Human Exposure.- Contributors.

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.

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.

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

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.

* Confidently devise a safe and successful plan for the pump run for patients undergoing surgery for congenital heart disease. This practical guide for perfusionists and other members of the cardiac surgical team provides information on the devices, technology and techniques required for successful bypass of patients with congenital heart defects * A practical, spiral-bound, go-to reference designed to answer the most frequently-posed questions about bypass for CHD, the surgical treatment of which is often complicated * Focuses on the latest technology and techniques and provides clear, matter-of-fact guidance based on specific diagnoses * Written by a seasoned perfusionist who is co-chief and educator at one of the world s leading children s hospitals * Spiral binding allows the book to be laid flat for easy referral in the operating room * A notes section following each diagnosis enables readers to add institution and/or surgeon-specific information to tailor a bypass plan for each CHD lesion

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.

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.

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.