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This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. When known, the molecular or other pathogenetic basis for the malformation is given. Most anomalies are illustrated by photographs or drawings. Specific malformations are linked to syndromes through the extensive use of differential diagnosis tables. Over a decade has passed since the first edition of this book was published, and the revised edition fully incorporates the advances made in the field during the intervening years.. It reflects new understanding of human developmental biology that has emerged from molecular, cytogenetic, and biochemical studies; new observations by clinicians as well as enhanced diagnostic and prevention capacities; and more accurate and comprehensive epidemiology. By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. Stevenson and Hall and their contributors have managed to update the book while reducing its size to that of a single volume. All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.
The real crisis in medicine today is not about economics, insurance, or managed care--it's about the loss of the fundamental human relationship between doctor and patient. In this wise and passionate book, one of our most eminent physicians reacquaints us with a classic notion often overlooked in modern medicine: health care with a human face, in which the time-honored art of healing guides doctors in their approach to patient care and their use of medical technology. Drawing on four decades of practice as a cardiologist and a vast knowledge of literature and medical history, Dr. Lown probes the heart and soul of the doctor-patient relationship. Insightful and accessible to all, The Lost Art of Healing describes how true healers use sympathetic listening and touch to hone their diagnostic skills, how language affects the perception of illness, how doctors and patients can cultivate a relationship of trust, and how patients can obtain the most complete and beneficial care through a combination of healing techniques and conventional practices. As Dr. Lown explains, the art of healing does not mean abandoning the spectacular advances of modern science, but rather incorporating them into a sensitive, humane, enlightened approach to medical care. With its urgent message and poignant, fascinating vignettes, The Lost Art of Healing is a book of vital, universal importance.
The field of vascular anomalies has grown rapidly in last 25 years. Molecular genetics has led to discovery of genes that cause vascular anomalies. Interventional radiology has become a major contributor to accurate diagnosis and management of previously untreatable disorders. New pharmacologic therapies are under investigation and surgical protocols have been established. Vascular Anomalies: Hemangiomas and Malformations is a comprehensive and interdisciplinary textbook ideal for dermatologists, interventional radiologists, surgical specialists, ophthalmologists, pathologists, geneticists, pediatricians, hematologic-oncologists, and vascular biologists. With a central motif of the biologic dichotomy of vascular tumors and vascular malformations, this book is organized into chapters which address clinical presentation, diagnostic imaging, molecular genetics, pathogenesis, histopathology, and management of vascular anomalies. Generous, full-color images compliment this extensive volume written by three colleagues and their teammates from Children's Hospital Boston and Harvard Medical School, with leading specialists from other centers.
Assisted reproduction techniques have led to the birth of 4 million babies worldwide Assisted reproduction techniques (ART), in particular in-vitro fertilization and intra-cytoplasmic sperm injection, are the most advanced forms of infertility treatment. They involve numerous counseling, medical, surgical and laboratory-based steps. At each step various problems and complications could be encountered that challenge even the most experienced ART practitioners. Moreover, patients with complex medical disorders may require ART, presenting further challenges. Assisted Reproduction Techniques will stimulate resourceful thinking in the ART practitioner when faced with these challenges. It outlines various management options, the reasoning behind them, and the evidence on which they are based to enable the practitioner to choose the most suitable solution for the needs of each patient. Written by 122 internationally renowned experts, Assisted Reproduction Techniques follows the patient's journey throughout the whole ART process, with chapters on: Counseling and preparation Ovarian stimulation Oocyte retrieval Embryo transfer The luteal phase The ART laboratory The male patient The ART pregnancy Each of the 100 concise chapters includes clinical cases, background, evidence-based practical management options, preventive measures and key-point summaries of the important details. Assisted Reproduction Techniques gives a wide-ranging practical guide to all those wishing to support couples who cannot conceive naturally.
Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.
Surprisingly, the beginning of a modern approach This collection of articles and commentaries is an to the problems of birth defects is relatively recent integration of information from many disciplines, and dates from Gregg's classical report in 1941 that and presents a comprehensive survey of both recent mothers who contracted rubella during the first tri and previously reported work related to the major mester of pregnancy gave birth to infants with severe aspects of birth defects. In particular, an attempt multiple anomalies. For the first time, an environ has been made to provide a critical assessment of mental agent was found to be teratogenic in man current concepts and to identify areas in need of and was documented in a thoroughly convincing further investigation. manner. Since then, many important discoveries The scope of this volume and space limitations and significant developments have been made, par precluded discussion of and reference to all papers ticularly in the areas of environmental teratogenesis, of relevance or importance: a work of the present hereditary mechanisms, and prenatal diagnosis. nature must necessarily be selective. Some good In recent years, there has been an impressive papers have been left out or given relatively little surge of interest in the causes and prevention of consideration. It is my hope that the list of Further birth defects. Undoubtedly this resulted not only References will be consulted and should compensate from the thalidomide tragedy, but also from the for this lack of completeness.
Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation--with particular emphasis on medical and health issues--in the emerging economies and countries of the developing world. With sections dedicated to fundamtals of genetics and genomics, epidemiology of human disease, biomarkers, comparative genomics, developments in translational genomic medicine, current and future health strategies related to genetic disease, and pertinent legislative and social factors, this volume highlights the importance of utilizing genetics/genomics knowledge to promote and achieve optimal health in the developing world. Grouped by geographic region, the chapters in this volume address: - Inherited disorders in the developing world, including a thorough look at genetic disorders in minority groups of every continent - The progress of diagnostic laboratory genetic testing, prenatal screening, and genetic counseling worldwide - Rising ethical and legal concerns of medical genetics in the developing world - Social, cultural, and religious issues related to genetic diseases across continents Both timely and vastly informative, this book is a unique and comprehensive resource for genetists, clinicians, and public health professionals interested in the social, ethical, economic, and legal matters associated with medical genetics in the developing world.
Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
Offers a comprehensive guide to assisted reproductive technology surveillance, describing its history, global variations, and best practices.