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Genomic and Precision Medicine: Primary Care by Geoffrey S. Ginsburg; Huntington F. Willard ; Sean P. David, 2017
Genomic and Precision Medicine: Primary Care, Third Edition is an invaluable resource on the state-of-the-art tools, technologies and policy issues that are required to fully realize personalized health care in the area of primary care. One of the major areas where genomic and personalized medicine is most active is the realm of the primary care practitioner. Risk, family history, personal genomics and pharmacogenomics are becoming increasingly important to the PCP and their patients, and this book discusses the implications as they relate to primary care practitioners.
Smith's Recognizable Patterns of Human Deformation, 5th ed. by John M. Graham; Pedro A. Sanchez-Lara, 2025
Since Peter Dunn and David Smith presented the basic concepts of deformation in 1975–1976, it has become accepted that unusual mechanical forces are responsible for a wide variety of structural birth defects. The impact of mechanical forces on form not only has provided an understanding of extrinsic constraint deformations, but it has also led to the appreciation that many malformation sequences can be interpreted as arising from an initiating malformation that results in altered mechanical forces and a cascade of intrinsic deformations. This biomechanical perspective provides a better understanding of the importance of mechanical forces in normal morphogenesis.
The major emphasis of Smith’s Recognizable Patterns of Human Deformation is on extrinsic constraint deformations that are secondary to crowding in utero. These should, to the extent possible, be distinguished from malformations with or without secondary intrinsic deformations. Not only are there major differences in the etiology, prognosis, management, and recurrence risk for extrinsic deformations, but also there are profound differences in the prognosis that can be conveyed to the child's parents. The child with extrinsic deformation can usually be interpreted as normal, and the parents can look forward to the restoration of normal form. This attitude toward considering extrinsic deformations as a separable category of birth defects is also critical in providing better answers relative to etiology and prevention. The etiologic factors that cause extrinsic deformation are obviously very different from those that cause malformation problems, which is a critical distinction that has not always been appreciated in epidemiologic studies. The preventive measures for extrinsic deformations are also different and entail such considerations as external cephalic version for fetal malpresentation and/or possible surgical reconstruction of a malformed uterus. Furthermore, because extrinsic deformations are more common in infants of primigravida mothers and in larger fetuses, it is quite reasonable to anticipate that the incidence of extrinsic deformations might increase because of smaller families and/or larger babies.
The basic principles of extrinsic deformation are simple. The magnitude and direction of force have a direct impact on form. These same simple precepts are relevant to the management of deformations. With rare exceptions, correction can be accomplished by the rational application of subtle forces. Over the course of the last 43 years, since collecting the data for the first edition of this book (1981), this knowledge has become an integral part of medicine because extrinsic deformations are common, and these basic concepts have become well established. The overall concepts that relate to the developmental pathology, diagnosis, and management of extrinsic deformations are simple and easily understood by primary care providers and subspecialists, as well as by parents. In recent times there has been a tendency to look for more complex answers of a biochemical, molecular, or physiologic nature, and to bypass the simple mechanistic approaches. Hence this book is dedicated to bringing the mechanical aspects of morphogenesis and deformation into the mainstream of medicine, where they belong.
Very few studies of extrinsic deformation in experimental animals have been done. One reason is that few creatures other than humans tend to outgrow the uterus before birth and to have constraint deformations at birth. Most other animals are born at a much more mature state of development, ready to stand and run away from predators; however, humans are unable to stand and run for almost a year after birth. Humans spend much of their infancy in a recumbent position, which may lead to deformation if the infant's resting position is not purposefully varied. This is one price the slowly aging, rapidly growing, large-brained human must pay for his or her present level of evolvement. One major aspect of human evolution is the prolonged period necessary to complete human brain development, such that the human brain continues to grow slowly over a much longer time than that necessary for other primates. It takes 6 months of postnatal growth for the human brain to reach the proportions found in a chimpanzee at birth. Thus, human gestation would take an additional 7 to 8 months if human neonates were to be born at the same stage of maturity as other primate infants. This continued growth of the human brain appears to leave the human cranium much more vulnerable to mechanical forces than that of other species. To accommodate this continued growth of the brain, the cranial sutures remain open for decades, while the plates of cranial bone continue to afford protection to the developing brain.
Congenital deformations are common, with most resolving spontaneously within the first few days of postnatal life. When such prompt resolution does not take place, further evaluation may be necessary to plan therapeutic interventions and prevent long-term negative consequences. This book provides a rational approach for the diagnosis and management of such deformations. Information concerning unusual intrauterine positions should be transmitted to physicians caring for such newborns in the nursery. When such data are properly interpreted, it can guide further evaluation and therapy and be vastly reassuring to the parents. Prompt treatment of deformations leads to prompt resolution of such problems, whereas delays in treatment sometimes lead to permanent alterations and residual deformations, which can have long-term implications.
ISBN: 9780443114144
