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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.
Congenital anomalies constitute a large group of diverse biochemical, histological, and anatomical defects presenting at birth and caused by a myriad of inherently unrelated etiopathogenic factors. A significant number of cases are idiopathic. With striking variability in clinical manifestation, the outcomes range from inconsequential to lethal, with immense medical, social, emotional, and financial implications. The principles of management vary from medical, surgical, none, or both, and the surgical procedures can be lifesaving or merely cosmetic. This book discusses the epidemiology, etiopathogenesis, recurrence risk, and specific clinical and investigational evaluation of congenital malformations. In addition, the book reviews the embryology, anatomy, pathophysiology, and updated management concepts of some of the most complex and intriguing anomalies of the major organ systems.
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.
The size of the problem, can be assessed This book is an off-shoot of the computerized from the following. Of 50 children bom, 1 London Dysmorphology Database which is now widely used by many geneticists and will have an easily detectable major malfor mation. Many of these will have a single dysmorphologists. Both the database and this malformation, but in the region of 8 in 1000 book have arisen out of a need to cope with the ever increasing nurober of multiple will have multiple abnormalities. This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and where infor mation can be found in the Iiterature. Indeed rest needing tobe diagnosed by other means. there are more than 2000 non-chromosomal It is to the diagnosis of this latter group that this book is dedicated. multiple malformation syndromes to which access is essential. If computerized databases have solved THE DIAGNOSIS OF DYSMORPHIC some of the problems, why is there a need SYNDROMES for this book? There are many physicians who do not have a desk computer or do not History feel at ease in using one. In addition geneticists are doing more satellite clinics and Before identifying the specific dysmorphic in some circumstances it would be more features, at least a three generation family history needs to be taken. It is necessary to convenient to carry a book than a computer.
Benedictin was prescribed to more than thirty-five million American women from its introduction in 1956 until 1983, when it was withdrawn from the market. The drug's manufacturer, Merrill Dow Pharmaceuticals, a major U.S. pharmaceutical firm, joined a list of other companies whose product liabilities would result in precedent-setting litigation. Before it was over, the Benedictin litigation would involve 2,000 claimants over a fifteen-year period. Michael D. Green offers a comprehensive overview of the Benedictin case and highlights many of the key issues in mass toxic substances litigation, comparing individual and collective forms of litigation, and illustrating the misunderstandings between scientists and lawyers about the role of science in providing evidence for the legal system.
Teratology is at once among the oldest and youngest of human preoccupations. Coincident with man's first observations of the stars were his recordings of human and animal deformities. But, such aberrancies must have occurred even earlier, for although it is one of those things-like evolution-that cannot be proven, it is nevertheless indisputable that dysmorphogenesis must have occurred from the time complex forms of life first arose on our planet; and that from the beginnings of human awareness our species was conscious of such happenings. From the earliest recordings of this fascination with the form and meaning of abnormality a tortuous but continuous line extends to modern struggles to understand and control these manifestations. And now, after long occupying an honorable but peripheral place in the halls of philosophical and scientific pursuits, teratology has quite suddenly come to take a prominent position at the hub of a complex crossroads of human concerns. This shift in its fortune has taken several forms. Fetal maldevelopment has become the concern of environmentalists, activists of various persuasions, indus trial organizations, government agencies, ethicists, parents-i. e. , individuals and groups whose actions are impelled by apprehension. Such motives are of course not without basis; the trauma of thalidomide left a scar yet raw. For still others clinicians, academics, experimentalists-the upsurge in the interest in fetal mal development is at a different level, and their pursuits are broad, taking external agents as but one of the causes of defective development.
From a review of an earlier volume: 'Both the experimental and the human aspects of teratology are presented in this comprehensive text by a stellar group of internationally recognized scientists and clinicians....A valuable resource for those concerned with experimental teratology and risk assessment and those requiring general information about the causes of birth defects. The treatment of these issues is sophisticated, succinct, and logical.'-American Scientist
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.
Do persons exposed to radiation suffer genetic effects that threaten their yet-to-be-born children? Researchers are concluding that the genetic risks of radiation are less than previously thought. This finding is explored in this volume about the children of atomic bomb survivors in Hiroshima and Nagasakiâ€"the population that can provide the greatest insight into this critical issue. Assembled here for the first time are papers representing more than 40 years of research. These documents reveal key results related to radiation's effects on pregnancy termination, sex ratio, congenital defects, and early mortality of children. Edited by two of the principal architects of the studies, J. V. Neel and W. J. Schull, the volume also offers an important comparison with studies of the genetic effects of radiation on mice. The wealth of technical details will be immediately useful to geneticists and other specialists. Policymakers will be interested in the overall conclusions and discussion of future studies.