Download or read book Trisomy 21 written by G.R. Burgio and published by Springer Science & Business Media. This book was released on 2013-03-07 with total page 265 pages. Available in PDF, EPUB and Kindle. Book excerpt: With contributions by numerous experts

Download or read book The Principles of Clinical Cytogenetics written by Steven Gersen and published by Humana Press. This book was released on 2010-10-12 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive, in-depth explanation of the basic concepts and interpretations involved in chromosome analysis, a critical technique in the diagnosis, prognosis, and monitoring of a wide variety of conditions. Designed for the health care provider who must use and explain the often complex results of these tests, this book details in understandable language the various applications of chromosome analysis in clinical settings and the clinical significance of abnormal results. In addition, the book offers an informative tutorial on basic laboratory procedures (including microscopy, photomicrography, automation, computerized karyotyping, and QA/QC), reports on novel synergistic technologies such as FISH, and discusses issues in genetic counseling. Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians and managed care practitioners who depend on the cytogenetics laboratory for the diagnosis of their patients' ailments.

Download or read book Dermatoglyphics in Medical Disorders written by B. Schaumann and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 265 pages. Available in PDF, EPUB and Kindle. Book excerpt: The skin on the fingertips and palmar and plantar surfaces of man is not smooth. It is grooved by curious ridges, which form a variety of configurations. These ridge configurations have attracted the at tention of laymen for millenia. They have also evoked the serious interest of scientists for more than three centuries. The anatomist Bidloo provided a description of ridge detail in the seventeenth cen tury. Since then, additional information has been added by anthro pologists, biologists, and geneticists. For the last century, the fact that each individual's ridge configurations are unique has been uti lized as a means of personal identification especially by law enforce ment officials. Widespread medical interest in epidermal ridges de veloped only in the last several decades when it became apparent that many patients with chromosomal aberrations had unusual ridge formations. Inspection of skin ridges, therefore, promised to provide a simple, inexpensive means for determining whether a given patient had a particular chromosomal defect. However, the promise was only partially fulfilled because of the inherent variability of skin ridge configurations. It was possible to draw conclusions about ridge ab normalities in groups of patients but not always in a given individual. Patients and clinicians became somewhat disenchanted with the clinical value of studying ridges.

Download or read book Cytogenetics written by J. Schulz-Schaeffer and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since 1961 the author has taught a course in Cytogenetics at Montana State University. Undergraduate and graduate stu dents of Biology, Chemistry, Microbiology, Animal and Range Science, Plant and Soil Science, Plant Pathology and Veterinary Science are enrolled. Therefore, the subject matter has been pre sented in an integrated way to correlate it with these diverse disciplines. This book has been prepared as a text for this course. The most recent Cytogenetics text was published in 1972, and rapidly developing research in this field makes a new one urgently needed. This book includes many aspects of Cytogenetics and related fields and is written for the college student as well as for the researcher. It is recommended that the student should have taken preparatory courses in Principles of Genetics and Cytol ogy. The content is more than is usually taught during one quar ter of an academic year, thus allowing an instructor to choose what he or she would like to present to a class. This approach also allows the researcher to obtain a broad exposure to this field of biology. References are generously supplied to stimulate orig inal reading on the subject and to give access to valuable sources. The detailed index is intended to be of special assistance to researchers.

Download or read book Human Chromosomes written by Eeva Therman and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 247 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides an introduction to human cytogenetics. It is also suitable for use as a text in a general cytogenetics course, since the basic features of chromosome structure and behavior are shared by all eukar yotes. Because my own background includes plant and animal cytoge netics, many of the examples are taken from organisms other than man. Since the book is written from a cytogeneticist's point of view, human syndromes are described only as illustrations of the effects of abnormal chromosome constitutions on the phenotype. The selection of the phe nomena to be discussed and of the photographs to illustrate them is, in many cases, subjective and arbitrary and is naturally influenced by my interests and the work done in our laboratory. The approach to citations is the exact opposite of that usually used in scientific papers. Whenever possible, the latest and/or most comprehen sive review has been cited, instead of the original publication. Thus the reader is encouraged to delve deeper into any question of interest to him or her. I am greatly indebted to many colleagues for suggestions and criticism. However, my special thanks are due to Dr. JAMES F. CROW, Dr. TRAUTE M. SCHROEDER, and Dr. CARTER DENNISTON for their courage in reading the entire manuscript. I wish to express my gratitude also to the cytogeneticists and editors who have generously permitted the use of published and unpublished photographs.

Download or read book Therapies and Rehabilitation in Down Syndrome written by Jean-Adolphe Rondal, PhD and published by John Wiley & Sons. This book was released on 2007-04-04 with total page 228 pages. Available in PDF, EPUB and Kindle. Book excerpt: Therapies and Rehabilitation in Down Syndrome covers the entire lifespan of a DS patient, from infancy to 60 years and beyond, focusing not simply on identifying problems, but providing a detailed look at major therapeutic approaches. Discussion includes future genetic therapy, questions of quality of life, hormone and other therapies for medical problems, prevention and treatment of normal and pathological aging, as well as psychomotoric rehabilitation. This is an important book not only for scientists concerned with various facets of DS, but practitioners looking for guidelines for therapies and clinical application of research findings.

Download or read book Epilepsy and Intellectual Disabilities written by Vee P. Prasher and published by Springer Science & Business Media. This book was released on 2008-09-15 with total page 237 pages. Available in PDF, EPUB and Kindle. Book excerpt: Like many people with epilepsy and ID, John has comorbid behavior problems. This association is dealt with in detail later in the book. A clear and consistent approach to this is likely to offer much to John in terms of his quality of life. Other psychosocial concerns will need addressing. Emphasizing and explaining the impact of epilepsy and its treatment on John’s cognitive well-being can help reduce anxiety in caregivers and the family and help establish the importance of treatment. Informing people about the negative impact of seizures while trying to minimize the difficulties in social life imposed by people’s fears of seizures can be a difficult challenge. This is most difficult when discussing seizure-related death. However, our position must be to inform patients and families so they can make their life and treatment choices with complete understanding of choices and risks. Delivering a Package of Care Delivering continuity of health care will be a major need throughout John’s lifespan. This continuity should cover seizure assessment and management yet also be responsive to changes in the care environment. A person with ID who is no longer resident in the family home is likely to undergo many changes in staffing over a lifetime. As for many people, their ability to communicate their health needs will be compromised, and these changes in staff can offer considerable risks in chronic disease management.

Download or read book Human Chromosome Variation Heteromorphism Polymorphism and Pathogenesis written by Herman E. Wyandt and published by Springer. This book was released on 2017-03-28 with total page 500 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new edition now titled “Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis” provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding the discussion of microarray analysis in the previous edition of the book, are new chapters on microarray and genomic analysis, plus comprehensive tables on the subtle microdeletions and microduplications that are found on each chromosome, including 235 recurring copy number variants that are associated with well-established or emerging chromosomal syndromes. The current edition features concise information on cytogenetic methods and applications, extending these discussions to DNA analysis and genome sequencing. Sections on euchromatin, heterochromatin, FISH pattern, fragile site, copy number, and DNA sequence variation are integrated with actual clinical examples from cytogenetic laboratories and from clinical practice. The principles that allow for the distinction between benign chromosome / DNA variation and pathogenic heteromorphisms / polymorphisms are discussed and include references to the latest organizational guidelines and genomic or population databases. The two previous incarnations of this book: the ‘Atlas of Human Chromosome Heteromorphism’, and ‘Human Chromosome Variation: Heteromorphism and Polymorphism’ have been standard reference works in most cytogenetic laboratories, used by laboratory directors and clinicians all around the world. While widely used sections from the previous edition on cytogenetic technologies and heteromorphisms are retained intact the present volume adds extensive material on copy number variations (polymorphisms detected by microarray analysis), fragile sites in disease and cancer, and practical views on interpreting emerging technologies, including whole exome sequencing. This book should be of interest to clinicians, technicians and students who are or will be exposed to DNA and/or chromosome analysis and the data derived from these continuously developing techniques. This fully updated book volume will bring the reader up to speed on the latest technologies, their applications, benefits and drawbacks and as such, is a must read for anyone with an interest in DNA and chromosome analysis and the distinction between benign variation and pathogenic mistakes.

Download or read book Fundamentals of Craniofacial Malformations written by Ulrich Meyer and published by Springer Nature. This book was released on 2021-06-24 with total page 393 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the first volume in an interdisciplinary three-book series covering the full range of biological, clinical, and surgical aspects in the evaluation, diagnosis, and treatment of patients with craniofacial malformations. This volume opens by considering general topics such as developmental biology and disease classification and then examines in depth the biological basis of the various malformations, including craniosynostoses, cleft-lip and palate with complex orofacial clefts, branchio-oculo-facial syndromes, rare syndromes, soft tissue malformations, and dysgnathia. Psychological aspects, including psychological evaluation methods and therapies and quality of life issues, are then addressed. Finally, all relevant clinical, radiological, and genetic investigations are described and important diagnostic issues are explored. Featuring numerous high-quality illustrations, the book will be of high value for all clinicians, researchers, and postgraduate students who deal with these malformations. The accompanying two volumes describe treatment principles and present in an atlas manner all relevant surgical techniques in detail. The content of this multivolume set, written by the world’s leading research and clinical specialists in their discipline, represents therefore the recent intellect, experience, and state of this medical field.

Download or read book Handbook of Teratology Research procedures and data analysis written by James Graves Wilson and published by . This book was released on 1977 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Defining Prevention Science written by Zili Sloboda and published by Springer. This book was released on 2014-07-08 with total page 629 pages. Available in PDF, EPUB and Kindle. Book excerpt: Whoever coined the adage "an ounce of prevention is worth a pound of cure" could not have known how important this adage would become. The challenge of altering the health trajectories of poor lifestyle decisions for such behaviors as smoking, drinking and using illicit drugs, violence, dropping out of school, engagement in risky sexual behaviors and crime through prevention research has led to a new discipline, prevention science. Defining Prevention Science covers this emerging field of science: its goals, its conceptual and theoretical foundations, its methods and especially its utility. Not content to simply differentiate the field from its close allies: epidemiology, psychology, neuroscience, sociology, economics, the text explains how these many disciplines enhance each other at both research and intervention levels and how prevention science draws on these biological, behavioral and social sciences to create an innovative knowledge base that has provided cost-effective, evidence-based prevention interventions and policies. To this end, familiar developmental benchmarks are recast in prevention/health promotion context, from the crucial importance of adolescence in encountering and deterring high-risk behaviors to the risks and resiliencies of single-mother families. An international group of contributors offers current findings, up-to-date methods for effective evidence-based interventions and improvements in research technologies in these key areas: Physical, cognitive and emotional vulnerability across the life course. The roles of developmental influences in prevention. Intervention development, delivery and implementation. Bringing the intervention approach to research design. New directions in analytic methods. Cost analysis and policy implications. Advances in Prevention Science: Defining Prevention Science aims to inspire further refinements in the field and encourage communication among researchers in its own and related disciplines, including public health, epidemiology, psychology, and criminology. This is the first volume in the series, Advances in Prevention Science, that provides the framework for other volume that will focus on such issues as: Prevention Science in School Settings: Complex Relationships and Processes; Preventing Crime and Violence and The Prevention of Substance Use.

Download or read book Perinatal Imaging written by Fred E. Avni and published by Springer Science & Business Media. This book was released on 2013-06-29 with total page 332 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fetal and perinatal medicine is a rapidly expanding field, and noninvasive imaging by means of ultrasonography and MRI is playing a major role in refining diagnosis and therapy. Recent technological advances in these imaging modalities now allow unprecedented morphological depiction of the fetus and excellent insight into complex pathologic conditions, as well as yielding superior guidance for therapeutic fetal inter ventions. I am very pleased that Professor F. Avni , a leading international pediatric radiologist, was prepared to take on the challenging task of preparing and editing this comprehen sive and up-to-date overview of our knowledge in the area of fetal and perinatal imaging. He has been successful in engaging well-known experts with outstanding qualifications in fetal imaging to join him in this venture. I would like to congratulate Professor Avni and all contributing authors most sincerely for their excellent work. I am confident that this outstanding volume will meet with great interest not only from general as well as specialized pediatric radiologists but also from neonatologists and pediatricians. I trust it will enjoy the same success as many previous volumes in this series. ALBERT L. BAERT Leuven Preface Fetal and perinatal medicine would not have developed without the extensive use of obstetric ultrasound (US). In order to be efficient, the examination has to be performed very carefully and by sonologists fully conversant with the normal and abnormal development of the fetus.

Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 718 pages. Available in PDF, EPUB and Kindle. Book excerpt: Technological advances continue to expand the number of genetic disorders that can be diagnosed in utero. Utilization of this new technology has de manded special expertise available in relatively few academic centers. As these new applications have become more widespread so have the realities of the medicolegal implications. Notwithstanding the laboratory challenges, most legal action, at least in the United States, has arisen from the physician's failure to inform a patient about the risks of a genetic disorder or the oppor tunities presented by prenatal diagnosis. Hence an extensive thorough reex amination of the subject seems appropriate and timely. The steady escalation in the number of prenatal genetic studies now being done in the western world makes it imperative for the physician to have a thorough comprehension of the subject in its entirety. I am, therefore, fortu nate in having colleagues who as acknowledged experts have shared their knowledge and experience in order to make this volume a major critical repository of facts and guidance about prenatal genetic diagnosis. The subject matter ranges from a consideration of required genetic counseling through the intricacies of establishing prenatal diagnoses. Special attention is focused on new advances using ultrasound, a-fetoprotein, fetoscopy, and first trimester diagnosis. Both ethical and legal implications are discussed in detail, as is the development of public policy.

Download or read book Inherited Metabolic Diseases written by Georg F. Hoffmann and published by Springer Science & Business Media. This book was released on 2009-11-21 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.

Download or read book Pathology of the Eye written by G.O.H. Naumann and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 1025 pages. Available in PDF, EPUB and Kindle. Book excerpt: It is indeed a pleasure to write a foreword for this spectacular book which represents a landmark in the history of ocular pathology. Not since the three volumes of the Henke-Lubarsch handbook appeared forty years ago has anything like this come on the market. This book represents a compre hensive, thorough and up-to-date clinically oriented textbook on ocular pathology. We are all indebted to the senior author, who is now professor of ophthal mology at the University of Erlangen, who presents us here with the fruit of decades of industrious endeavors. We also have to be grateful to the American ophthalmic pathologist, Dr. David Apple, who, as one of the main collaborators of the German edition, has now provided us with the English translation. The book has a twofold purpose: First, it is meant to be a source of instruction for ophthalmologists and pathologists. For that purpose it is beautifully illustrated both by clinical pictures and by excellent photomicro graphs and electromicroscopic pictures. Most valuable from a didactic point of view are the colored schematic drawings and the many tables. These two features are practically unique and should help any neophyte in grasp ing the principles of ocular pathology.

Download or read book Klinefelter s Syndrome written by H.-J. Bandmann and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 250 pages. Available in PDF, EPUB and Kindle. Book excerpt: Klinefelter's syndrome occurs relatively frequently, being diagnosed for one in 600 male infants, yet it is probably very rare that it is recognized early enough to make effective treatment possible. Often the person afflicted does not go to a doctor until physical and emotional disturbances have developed on the ba sis of the syndrome. The appropriate therapy at the correct time can prevent many of these disturbances. In our andrology outpatient clinic we encountered Klinefelter's syndrome almost three decades ago in patients suffering from impotentia generandi. It was not until later that we dealt with it in our capacities as dematologists. It was observed at a rate too high to be coincidental among younger men suffer ing from ulcera crurum. On the other hand, we failed to see the condition during our work as con sultants in other specialities, especially internal medicine, although we re peatedly attempted to identify it. We should have encountered it at least occa sionally in our 10 years working in the Munich hospitals with their more than 4000 beds. It was this imbalance between the allegedly relative frequency of this condition and its rare detection which led us to plan a Klinefelter sympo sium. We soon determined, during a first search of the literature, that there was information in many more subject areas that we had expected or even guessed.

Download or read book Pedagogical Tact written by Max van Manen and published by Routledge. This book was released on 2016-07-11 with total page 265 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pedagogical Tact describes how teacher-student relations possess an improvisational and ethical character. The daily realities of educators, parents, and childcare specialists are pedagogically conditioned by sensitive insights, active thoughtfulness, and the creative ability to act caringly and appropriately in the immediacy of the moment. Internationally known educator Max van Manen shows through recognizable examples and evocative stories how good teaching is driven by the phenomenology of pedagogy. His book-refocuses educators and others away from an emphasis on instrumental skills and technocratic programs toward the need for pedagogical tact;-describes how pedagogical actions have latent effects that will influence children throughout their lives;-shows how our actions with young people have pedagogically ethical and moral significance;-gives educators back their original vocational motivation and inspiration.