Download or read book Achondroplasia Unveiled A Comprehensive Exploration of Genetics Health and Community written by Dr. Spineanu Eugenia and published by Dr. Spineanu Eugenia. This book was released on 2024-07-01 with total page 113 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Achondroplasia Unveiled: A Comprehensive Exploration of Genetics, Health, and Community" is an extensive treatise delving into the intricate dimensions of Achondroplasia. This comprehensive work serves as an illuminating guide, offering an in-depth understanding of the genetic underpinnings, medical intricacies, and holistic aspects surrounding this condition. Within its pages, readers embark on a journey through the historical context and definition of Achondroplasia, tracing its genetic origins and modes of inheritance. The treatise meticulously unravels the mysteries of the FGFR3 gene mutations, shedding light on their impact on skeletal development and growth regulation. Each chapter navigates through epidemiological insights, unraveling prevalence statistics and global perspectives on Achondroplasia.
Download or read book Bone Dysplasias written by Jürgen W. Spranger and published by Oxford University Press. This book was released on 2018-10-25 with total page 976 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs "Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.
Download or read book Human Genome Editing written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2017-08-13 with total page 329 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genome editing is a powerful new tool for making precise alterations to an organism's genetic material. Recent scientific advances have made genome editing more efficient, precise, and flexible than ever before. These advances have spurred an explosion of interest from around the globe in the possible ways in which genome editing can improve human health. The speed at which these technologies are being developed and applied has led many policymakers and stakeholders to express concern about whether appropriate systems are in place to govern these technologies and how and when the public should be engaged in these decisions. Human Genome Editing considers important questions about the human application of genome editing including: balancing potential benefits with unintended risks, governing the use of genome editing, incorporating societal values into clinical applications and policy decisions, and respecting the inevitable differences across nations and cultures that will shape how and whether to use these new technologies. This report proposes criteria for heritable germline editing, provides conclusions on the crucial need for public education and engagement, and presents 7 general principles for the governance of human genome editing.
Download or read book Inborn Errors of Development written by Charles J. Epstein and published by Oxford University Press, USA. This book was released on 2004 with total page 1110 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them.
Download or read book Autism and the Environment written by Institute of Medicine and published by National Academies Press. This book was released on 2008-03-12 with total page 358 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism spectrum disorders (ASD) constitute a major public health problem, affecting one in every 150 children and their families. Unfortunately, there is little understanding of the causes of ASD, and, despite their broad societal impact, many people believe that the overall research program for autism is incomplete, particularly as it relates to the role of environmental factors. The Institute of Medicine's Forum on Neuroscience and Nervous System Disorders, in response to a request from the U.S. Secretary of Health and Human Services, hosted a workshop called "Autism and the Environment: Challenges and Opportunities for Research." The focus was on improving the understanding of the ways in which environmental factors such as chemicals, infectious agents, or physiological or psychological stress can affect the development of the brain. Autism and the Environment documents the concerted effort which brought together the key public and private stakeholders to discuss potential ways to improve the understanding of the ways that environmental factors may affect ASD. The presentations and discussions from the workshop that are described in this book identify a number of promising directions for research on the possible role of different environmental agents in the etiology of autism.
Download or read book Pediatric Cancer Genetics written by Nathaniel H. Robin and published by Elsevier Health Sciences. This book was released on 2017-08-22 with total page 350 pages. Available in PDF, EPUB and Kindle. Book excerpt: Get a quick, expert overview of the many key facets of pediatric cancer genetics with this concise, practical resource by Dr. Nathaniel H. Robin and Meagan Farmer, MS, CGC, MBA. Ideal for pediatric oncologists and all providers who care for children, this easy-to-read reference addresses the remarkable potential of genetic testing as well as the complexities of choosing the correct test, understanding the results, and counseling the family. Features a wealth of information on pediatric cancer genetics, including the epidemiology and biology of cancer and the genetic evaluation process and role of genetic counselors. Highlights examples of syndromes that present in childhood and increase susceptibility to cancer. Discusses the genetic evaluation process in context of the multidisciplinary care of children with cancer. Considers the ethical and legal issues of genetic testing in children and provides illustrative case examples. Consolidates today’s available information and guidance in this timely area into one convenient resource.
Download or read book Principles and Applications of Molecular Diagnostics written by Nader Rifai and published by Elsevier. This book was released on 2018-06-13 with total page 422 pages. Available in PDF, EPUB and Kindle. Book excerpt: Principles and Applications of Molecular Diagnostics serves as a comprehensive guide for clinical laboratory professionals applying molecular technology to clinical diagnosis. The first half of the book covers principles and analytical concepts in molecular diagnostics such as genomes and variants, nucleic acids isolation and amplification methods, and measurement techniques, circulating tumor cells, and plasma DNA; the second half presents clinical applications of molecular diagnostics in genetic disease, infectious disease, hematopoietic malignancies, solid tumors, prenatal diagnosis, pharmacogenetics, and identity testing. A thorough yet succinct guide to using molecular testing technology, Principles and Applications of Molecular Diagnostics is an essential resource for laboratory professionals, biologists, chemists, pharmaceutical and biotech researchers, and manufacturers of molecular diagnostics kits and instruments. Explains the principles and tools of molecular biology Describes standard and state-of-the-art molecular techniques for obtaining qualitative and quantitative results Provides a detailed description of current molecular applications used to solve diagnostics tasks
Download or read book Pediatric Board Study Guide written by Osama Naga and published by Springer. This book was released on 2015-03-27 with total page 611 pages. Available in PDF, EPUB and Kindle. Book excerpt: Covers the most frequently asked and tested points on the pediatric board exam. Each chapter offers a quick review of specific diseases and conditions clinicians need to know during the patient encounter. Easy-to-use and comprehensive, clinicians will find this guide to be the ideal final resource needed before taking the pediatric board exam.
Download or read book Paediatrics at a Glance written by Lawrence Miall and published by John Wiley & Sons. This book was released on 2016-04-29 with total page 208 pages. Available in PDF, EPUB and Kindle. Book excerpt: Paediatrics at a Glance provides an introduction to paediatrics and the problems encountered in child health as they present in primary, community and secondary care, from birth through to adolescence. Thoroughly updated to reflect changes in understanding of childhood illness over the last 5 years, the 4th edition of this best-selling textbook diagrammatically summarises the main differential diagnoses for each presenting symptom, while accompanying text covers important disorders and conditions as well as management information. Paediatrics at a Glance: • Is an accessible, user-friendly guide to the entire paediatric curriculum • Features expanded coverage of psychological issues and ethics in child health • Includes more on advances in genetics, screening and therapy of childhood illness • Contains new videos of procedures and concepts on the companion website • Includes a brand new chapter on Palliative Care - an emerging area in the specialty • Features full colour artwork throughout • Includes a companion website at www.ataglanceseries.com/paediatrics featuring interactive self-assessment case studies, MCQs, videos of the procedures and concepts covered in the book, and links to online resources Paediatrics at a Glance is the ideal companion for anyone about to start a paediatric attachment or module and will appeal to medical students, junior doctors and GP trainees as well as nursing students and other health professionals.
Download or read book Smith s Recognizable Patterns of Human Malformation written by Kenneth Lyons Jones and published by . This book was released on 1997 with total page 888 pages. Available in PDF, EPUB and Kindle. Book excerpt: This user-friendly 5th Edition provides concise but complete information on numerous common and rare disorders that cause human malformation. Includes an outline of the salient features of each condition, as well as material on natural history, etiology, and pathogenesis. The text is accompanied by helpful illustrations and reference lists. Organized to allow for easy access to essential information.
Download or read book A Son of the Circus written by John Irving and published by Vintage Canada. This book was released on 2012-05-08 with total page 758 pages. Available in PDF, EPUB and Kindle. Book excerpt: A Hindi film star and an American missionary are twins separated at birth; a dwarf — a former circus clown — mistakes the missionary for the movie star. And stalking one of them is a serial killer...
Download or read book Animal Experimentation Working Towards a Paradigm Change written by Kathrin Herrmann and published by BRILL. This book was released on 2019-04-30 with total page 749 pages. Available in PDF, EPUB and Kindle. Book excerpt: Animal experimentation has been one of the most controversial areas of animal use, mainly due to the intentional harms inflicted upon animals for the sake of hoped-for benefits in humans. Despite this rationale for continued animal experimentation, shortcomings of this practice have become increasingly more apparent and well-documented. However, these limitations are not yet widely known or appreciated, and there is a danger that they may simply be ignored. The 51 experts who have contributed to Animal Experimentation: Working Towards a Paradigm Change critically review current animal use in science, present new and innovative non-animal approaches to address urgent scientific questions, and offer a roadmap towards an animal-free world of science.
Download or read book Physical Assessment of the Newborn written by Ellen P. Tappero, DNP, RN, NNP-BC and published by Springer Publishing Company. This book was released on 2014-09-01 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: Physical Assessment of the Newborn, 5th Edition, is a comprehensive text with a wealth of detailed information on the assessment of the newborn. This valuable and essential resource illustrates the principles and skills needed to gather assessment data systematically and accurately, and also provides a knowledge base for interpretation of this data. Coverage addresses: gestational assessment, neurologic assessment, neonatal history, assessment of the dysmorphic infant, and systemic evaluation of individual body systems, as well as key information on behavioral and pain assessment, including the use of specific tools with various groups ranging from term to extremely preterm infants. Numerous tables, figures, illustrations, and photos, many of them in full color, are a major strength that enhances the book’s usefulness as a clinical resource. The text is an excellent teaching tool and resource for anyone who performs newborn examinations including nurses, neonatal and pediatric nurse practitioners, nurse-midwives, physicians and therapists. It can also serve as a core text for any program preparing individuals for advanced practice roles in neonatal care. KEY FEATURES: An authoritative and renowned text that comprehensively addresses all key aspects of newborn assessment Provides a well-ordered evaluation of individual body systems. Assists the practitioner in identifying infant state, behavioral clues, and signs of pain, facilitating individualized care. Comprehensively addresses the tremendous range of variation among newborns of different gestational ages. The content is amplified by numerous photos and illustrations, many in full color Includes Power Point slides and an Image Bank
Download or read book Genetics and Genomics in Medicine written by Tom Strachan and published by Taylor & Francis. This book was released on 2014-06-02 with total page 545 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how geneti
Download or read book Genetic Counseling Practice written by Bonnie S. LeRoy and published by John Wiley & Sons. This book was released on 2020-11-16 with total page 416 pages. Available in PDF, EPUB and Kindle. Book excerpt: The second edition of Genetic Counseling Practice: Advanced Concepts and Skills, provides in-depth content regarding the advanced competencies for meeting patient needs across the changing landscape of genetic counseling practice. The content aligns with the Reciprocal Engagement Model (REM) of practice which integrates the biomedical knowledge and psychosocial aspects of genetic counseling. This edition has been revised and expanded to reflect advances made in the present-day field. Edited by a team two genetic counselors and a psychologist, the chapters offer a holistic picture of genetic counseling. Chapter authors are all recognized experts in the profession. The chapters are grounded in evidence-based practice and research. Each chapter includes learning activities to help readers apply concepts and skills. Featured topic areas include: Meeting the needs of culturally diverse patients Addressing challenging patient dynamics Working with children, adolescents and families Using emerging service delivery models for genetic counseling Engaging in self-reflective, deliberate practice Promoting genetic counselor professional development Genetic Counseling Practice is an indispensable guide to the complex and evolving field of genetic counseling, and this updated second edition will help practitioners and trainees alike navigate its most pressing and practical challenges with skill and care.
Download or read book Oxford Textbook of Clinical and Biochemical Disorders of the Skeleton written by Roger Smith and published by Oxford University Press. This book was released on 2016-01-05 with total page 449 pages. Available in PDF, EPUB and Kindle. Book excerpt: Oxford Textbook of Clinical and Biochemical Disorders of the Skeleton 2 is a definitive reference providing comprehensive coverage of common polygenic and rare monogenic disorders, emphasizing new advances in bone cell biology and human skeletal disease. With an up-to-date account of common and rare metabolic disorders of the skeleton, including their causes, clinical aspects, and treatment, this book offers the reader clarity in the complex field of the molecular biology of the skeleton. Topics covered include bone biology and investigation, osteoporosis, osteomalacia and rickets, parathyroid bone disease, Paget disease, and the effects of malignancy on the skeleton. Newer metabolic bone disorders are also included, along with chapters on osteogenesis imperfecta, skeletal dysplasias, osteopetrosis and osteosclerosis, Marfan syndrome, Ehlers-Danlos syndrome, fibrous dysplasia, and ectopic mineralisation. Essential for postgraduates and clinicians, this accessible and highly illustrated book provides a clear authoritative account of metabolic bone diseases in their widest sense. Bringing together considerable advances in the field, it discusses molecular causes and personal experiences of all disorders, ensuring a comprehensive and didactic reference. Enriched with over 100 new illustrations and revised chapters to reflect a rapidly developing field, this second edition will be indispensable for those who look after patients with metabolic bone disease, including general physicians, rheumatologists, endocrinologists, and orthopaedic surgeons, along with paediatricians and geneticists. This print edition of The Oxford Textbook of Clinical and Biochemical Disorders of the Skeleton comes with a year's access to the online version on Oxford Medicine Online. By activating your unique access code, you can read and annotate the full text online, follow links from the references to primary research materials, and view, enlarge and download all the figures and tables. Oxford Medicine Online is mobile optimized for access when and where you need it.
Download or read book Living with Difference written by Joan Ablon and published by Praeger. This book was released on 1988-05-20 with total page 218 pages. Available in PDF, EPUB and Kindle. Book excerpt: Readers will find that Ablon's use of first-hand information makes this an inestimably practical source. The author begins with a definition and description of dwarfism, and then probes the range of family responses to the birth of a dwarf. Successive chapters explore developmental and medical problems, school experiences, the social world of the dwarf child, and how the dwarf child fits into the family system. Next, the author describes Little People of America--a national organization committed to providing information on dwarfism. Finally, detailed life histories of three families with dwarf children conclude this informative work. Readers will find that Ablon's use of first-hand information makes this an inestimably practical source. The author begins with a definition and description of dwarfism, and then probes the range of family responses to the birth of a dwarf. Successive chapters explore developmental and medical problems, school experiences, the social world of the dwarf child, and how the dwarf child fits into the family system. Next, the author describes Little People of America--a national organization committed to providing information on dwarfism. Finally, detailed life histories of three families with dwarf children conclude this informative work.
