Abnormality

The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.

This book gives readers critical insights into the human impact of extreme trauma, and the various levels of mental impairment suffered by both victims and survivors. Renowned trauma experts William Dorfman and Lenore Walker give this book immediate relevance through the use of real-life examples from a wide range of crisis situations. They have also deliberately minimized research citations within the text for greater readability.

It is only natural for someone in pain to attend to the body part that hurts. Yet this book tells the story of persistent pain having negative effects on brain function. The contributors, all leading experts in their respective fields of pain electrophysiology, brain imaging, and animal models of pain, strive to synthesize compelling and, in some ways, connected hypotheses with regard to pain-related changes in the brain. Together, they contribute their clinical, academic, and theoretical expertise in a comprehensive overview that attempts to define the broader philosophical context of pain (disentangling sensical from nonsensical claims), list the changes known to take place in the brains of individuals with chronic pain and animal models of pain, address the possible causes and mechanisms underlying these changes, and detail the techniques and analytical methods at our disposal to "visualize" and study these changes. Philosophical and social concepts of pain; testimonials of chronic-pain patients Clinical data from pain patients’ brains Advances in noninvasive brain imaging for pain patients Combining theoretical and empirical approaches to the analysis of pain-related brain function Manipulation of brain function in animal models Emerging neurotechnology principles for pain diagnostics and therapeutics

Three decades after his death, Michel Foucault remains one of the towering intellectual figures of the last half-century. His works on sexuality, madness, the prison, and medicine are enduring classics. From 1971 until his death in 1984, Foucault gave public lectures at the famous Collge de France. These seminal events, attended by thousands, created the benchmarks for contemporary social enquiry. The lectures comprising Abnormal begin by examining the role of psychiatry in modern criminal justice, and its method of categorising individuals who "resemble their crime before they commit it." Building on the themes of societal self-defence developed in earlier works, Foucault shows how defining "normality" became a prerogative of power in the nineteenth century, shaping the institutions-from the prisons to the family-meant to deal with "monstrosity," whether sexual, physical, or spiritual. The Collge de France lectures add immeasurably to our appreciation and understanding of Foucault's thought.

Updated to reflect the recent advances in this fast-changing field, this highly illustrated text examines the latest imaging modalities for prenatal diagnosis of fetal abnormalities. A team of leading authorities provides practical, step-by-step guidance on everything from detection and interpretation...to successful management approaches. Algorithms and management strategies throughout not only describe the features of abnormalities, but also show you how to arrive at a correct diagnosis through the use of color Doppler, 3-D ultrasound, and fetal MR. This 2nd Edition offers the essential practice-proven guidance you need to arrive at confident diagnoses in critical situations. It's a resource you'll turn to time and again! Includes more than 700 illustrations that clearly depict a full range of conditions. Focuses on image interpretation and, wherever possible, correlation of radiographic features with pathologic findings to provide the most accurate and reliable diagnosis possible. Uses a reader-friendly format to facilitate quick access to specific information. Includes new chapters reflecting major advances in magnetic resonance imaging and 3-D ultrasound. Presents an increased use of lists of differential diagnosis.

In few areas of medicine is progress more spectacular than in the field of prenatal diagnosis. New clinical techniques such as chorion villus sampling, detailed ultrasound scanning and cordocentesis are being evaluated by obstetricians, and refinement of biochemical testing is widening the scope of maternal serum screening. In the laboratory, dramatic advances in molecular biology are occurring: families at risk of genetic disease can be investigated with gene probes, and preimplantation diagnosis of the embryo is now becom ing a reality. These technical advances have important ethical and practical implications, among which will be a further increase in public expectations of the standards required of antenatal services. Clini cians will need a high degree of skill to inform healthy women about the options for screening normal pregnancies, and to counsel high-risk women about the benefits and limitations of prenatal diagnosis. Obstetricians, scientists and health service managers will face the difficult task of deciding how prenatal diagnosis can be made available to women in a caring and cost-effective way. Recognising the rapid progress in this field, the Royal College of Obstetricians and Gynaecologists made prenatal diagnosis the subject of its 23rd Study Group. An international panel of leading researchers, whose expertise ranged from molecular biology to philosophy, was invited to participate in a three day workshop, with time for in-depth discussion as well as the presentation of papers.

Cytogenetics is the study of the structure and function of chromosomes in relation to phenotypic expression.Chromosomal abnormalities underlie the development of a wide variety of diseases and disorders ranging from Down syndrome to cancer, and are of widespread interest in both basic and clinical research. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting is a practical guide that describes cytogenetic abnormalities, their clinical implications and how best to report and communicate laboratory findings in research and clinical settings. The text first examines chromosomal, FISH, and microarray-based analyses in constitutional disorders. Using these same methodologies, the book's focus shifts to acquired abnormalities in cancers. Both sections provide illustrative examples of cytogenetic abnormalities and how to communicate these findings in standardized laboratory reports. Providing both a wealth of cytogenetic information, as well as practical guidance on how best to communicate findings to fellow research and medical professionals, Cytogenetic Abnormalities will be an essential resource for cytogeneticists, laboratory personnel, clinicians, research scientists, and students in the field. A guide to interpreting and reporting cytogenetic laboratory results involved in constitutional disorders and cancers Guides the reader on implementing the International System for Human Cytogenetic Nomenclature in written reports Provides information to allow scientists and medical professionals to fully understand and communicate cytogenetic abnormalities Describes a wide array of cytogenetic abnormalities observed in the laboratory Divided into user-friendly sections devoted to methodologies and implications of specific diseases