Download or read book Genetic Consultations in the Newborn written by Robin D. Clark and published by Oxford University Press. This book was released on 2019-01-16 with total page 401 pages. Available in PDF, EPUB and Kindle. Book excerpt: "The definitive work in genetic evaluation of newborns. I cannot recommend it strongly enough." -Judith G. Hall As demand continues to exceed availability when it comes to clinical geneticists, Genetic Consultations in the Newborn offers an essential new resource for practitioners everywhere: a streamlined diagnostic manual that connects subtle symptoms of newborn dysmorphology to their differential diagnosis. Comprising more than 60 chapters organized by system and symptom, this book facilitates fast, expert navigation from recognition to management in syndromes that manifest during the newborn period. Richly illustrated and packed with pearls of practical wisdom from the authors' decades of practice, it empowers readers to recognize the outward signs and symptoms crucial for an effective diagnosis. For geneticists, neonatologists, pediatricians, and anyone else who cares for infants in their first days of life, Genetic Consultations in the Newborn provides an essential and unmatched resource for navigating one of the most challenging areas of clinical practice. It should not be missed.
Download or read book Genetic Consultations in the Newborn written by Robin D. Clark and published by . This book was released on 2019 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book A Guide to Genetic Counseling written by Wendy R. Uhlmann and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 647 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.
Download or read book Saving Babies written by Stefan Timmermans and published by University of Chicago Press. This book was released on 2015-05-06 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: Introduction: the consequences of newborn screening -- The expansion of newborn screening -- Patients-in-waiting -- Shifting disease ontologies -- Is my baby normal? -- The limits of prevention -- Does expanded newborn screening save lives? -- Conclusion: the future of expanded newborn screening
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 Handbook of Genetics written by Guy Bradley-Smith and published by Oxford University Press, USA. This book was released on 2010 with total page 486 pages. Available in PDF, EPUB and Kindle. Book excerpt: This handbook provides accessible information on specific genetic diseases, and possible genetic components of major diseases, for the primary health care team and junior doctor in training. It assists with why, when, and where to refer patients, and affected families, to get the best advice about genetic disease.
Download or read book Gardner and Sutherland s Chromosome Abnormalities and Genetic Counseling written by R. J. McKinlay Gardner and published by Oxford University Press. This book was released on 2018 with total page 729 pages. Available in PDF, EPUB and Kindle. Book excerpt: Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
Download or read book Practical Genetic Counseling for the Laboratory written by McKinsey L. Goodenberger and published by Oxford University Press. This book was released on 2017 with total page 409 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is an essential manual for the future of genetic counselling. It codifies the theory and practice of laboratory genetic counselling in an accessible and comprehensive format. With contributions from laboratorians, geneticists, and genetic counsellors from more than 30 institutions, it offers a manual of standards and practices that will benefit students and counsellors at any career stage
Download or read book The Genetics of African Populations in Health and Disease written by Muntaser E. Ibrahim and published by Cambridge University Press. This book was released on 2019-12-19 with total page 351 pages. Available in PDF, EPUB and Kindle. Book excerpt: A pioneering work that focuses on the unique diversity of African genetics, offering insights into human biology and genetic approaches.
Download or read book Cassidy and Allanson s Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Download or read book Congenital Anomalies written by Stefania Tudorache and published by BoD – Books on Demand. This book was released on 2018-05-02 with total page 546 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nowadays, nobody can imagine practicing obstetrics without using obstetrical ultrasound. Working in the prenatal diagnosis field requires dedication, patience, skills, experience, caution, and empathy. The concept of this book was guided by the desire to provide some help to the ultrasound operators. On a daily basis, they are confronted with the challenging task of ruling out or suspecting/confirming the diagnosis of fetal anomalies, either structural or chromosomal. The chapters of this book contain objective and exhaustive updated reviews of the pertinent literature, so that the reader would have a wide reference basis on each subject. Yet, many authors scan the fetus themselves or are directly involved with managing pregnancies with structural malformations or chromosomal anomalies. They kindly shared their personal experience and lessons learned over the years. This book is beneficial for all the professionals working in the prenatal diagnosis.
Download or read book Wong s Nursing Care of Infants and Children E Book written by Marilyn J. Hockenberry and published by Elsevier Health Sciences. This book was released on 2022-12-23 with total page 1470 pages. Available in PDF, EPUB and Kindle. Book excerpt: Provide quality nursing care through each stage of child development! Wong’s Nursing Care of Infants and Children, 12th Edition uses an easy-to-follow, family-centered approach to describe the care of children at each age and stage of development. The book begins with a discussion of the influences on and assessment of child health, then provides chapters on child health promotion and health problems — all organized by age groups and body systems. Up-to-date, evidence-based information helps you develop critical thinking skills along with the sensitivity needed to become a compassionate, caring pediatric nurse. Written by a team of experts led by Marilyn J. Hockenberry, Wong’s continues to be the leading text in pediatric nursing. Focus on family-centered care emphasizes the role and influence of the family in child health and illness with a separate chapter and Family-Centered Care boxes. Full-color drawings and photographs reflect the latest in nursing care. Nursing Care Guidelines boxes offer clear, step-by-step instructions for interventions in a variety of situations and conditions, and Nursing Care Plan boxes included expected patient outcomes and rationales for nursing interventions. Nursing Tips include helpful hints and practical, clinical information. Translating Evidence into Practice and Applying Evidence to Practice boxes help you apply research to improve the outcomes of nursing care. Atraumatic Care boxes contain techniques for care that manage pain, discomfort, or stress, along with approaches to promote self-esteem and prevent embarrassment. Emergency Treatment boxes serve as a quick reference for interventions in critical situations. Cultural Considerations and Cultural Competence content provides tips from clinical experts. Community and Home Health Considerations boxes address issues such as increasing immunization rates, decreasing smoking among teens, and preventing lead poisoning. Drug Alerts highlight important drug-related information for safe, appropriate care. Nursing Alerts call out critical considerations such as key assessment data, risk factors, and danger signs that must be considered in providing care. Research Focus boxes emphasize research with concise reviews of important evidence.
Download or read book Protection of Human Genetic Information written by Australia. Law Reform Commission and published by Sydney : Australian Law Reform Commission. This book was released on 2001 with total page 441 pages. Available in PDF, EPUB and Kindle. Book excerpt: 13. Law enforcement issues
Download or read book Quality Issues in Clinical Genetic Services written by Ulf Kristoffersson and published by Springer Science & Business Media. This book was released on 2010-06-25 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt: Initially genetic disorders were all considered as rare diseases. At present, in the mid of 2009, the OMIM catalogue contains information on more than 12 000 entries of which about 2500 are available for clinical testing based on the identification of the responsible gene defect. However, altogether it has been estimated that about 8 percent of a population in the economically developed countries will during their lifetime suffer from a disease mainly as the result of their genetic constitution. Adding to that, it is estimated that all diseases have a genetic component, which will determine who will be at a higher than average risk for a certain disorder. Further it is postulated that in the near future, this genetic profiling could become useful in selecting an appropriate therapy adapted to the genetic constitution of the person. Thus, genetic disorders are not rare. Measuring quality of health care related processes became an issue in the 1990s, mainly in laboratory medicine, but also for hospitals and other health care systems. In many countries national authorities started to implement recommendations, guidelines or legal procedures regulating quality of health care delivery. In laboratory medicine, in parallel, the use of accreditation as a method assuring high quality standards in testing came in use. With the increasing possibilities of performing molecular genetic testing, genetic laboratories needed to become involved in this process. As many genetic disorders are rare, most laboratories worldwide offered analysis for a specific set of disorders, and, therefore, very early on a transborder flow of samples occurred. While international quality criteria (ISO) have been in existence for a number of years, the regulation of quality issues still may differ between countries. Based on their personal experience in the varying fields of quality research and clinical implementation of quality criteria in genetic services the authors of this book share their experience and give examples of the implementation of quality issues in national quality systems worldwide. This book, which is the result of the effort of many persons, is destined to aid laboratory managers and counsellors, health care managers and other stakeholders in national or international health care service to improve the services to the benefit of patients with suspected genetic disorders.
Download or read book Oxford Textbook of the Newborn written by Michael Obladen and published by Oxford University Press. This book was released on 2021 with total page 465 pages. Available in PDF, EPUB and Kindle. Book excerpt: Well into the 20th century, one in four newborns failed to survive their first year of life. It was after World War II that medicine "discovered" the newborn as a human being entitled to medical treatment and prioritised care. Since its definition by Alexander Schaffer in 1960, neonatology has evolved into a mature, innovative, and ethical field. A large number of medical professionals' care for neonates, yet no definitive medical history of the newborn has been available until now. The Oxford Textbook of the Newborn: A Cultural and Medical History offers readers a unique and authoritative resource on the 3000-year history of the newborn within Western societies. Written by Professor Michael Obladen, a leading voice in neonatology, this book reflects on our perception of newborns, from the earliest days of human thought, through to the traces that remained in medieval life and persist today. It unearths ideas and evidence of societies' perceptions of newborns through a beautifully illustrated, impressive and often never-seen-before set of historical sources from libraries, archives, churches, excavation fields, and hospital charts around the world. Split into 8 sections which each cover aspects of the natural lifecycle of a neonate, this book demonstrates the impact of religion, law, ethics, philosophy and culture on newborns' quality of life, and covers fascinating topics such as the rites of passage for the newborn, infanticide, opium use, breastfeeding, and artificial feeding. Each chapter is written in an accessible style and includes high-quality historical illustrations which really bring the subject to life.
Download or read book The Epilepsies written by Chrysostomos P. Panayiotopoulos and published by Springer. This book was released on 2005 with total page 570 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book gives an exhaustive account of the classification and management of epileptic disorders. It provides clear didactic guidance on the diagnosis and treatment of epileptic syndromes and seizures through thirteen chapters, complemented by a pharmacopoeia and CD ROM of video-EEGs.
Download or read book Genomics and Health in the Developing World written by Dhavendra Kumar and published by Oxford University Press. This book was released on 2012-05-11 with total page 1569 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation--with particular emphasis on medical and health issues--in the emerging economies and countries of the developing world. With sections dedicated to fundamtals of genetics and genomics, epidemiology of human disease, biomarkers, comparative genomics, developments in translational genomic medicine, current and future health strategies related to genetic disease, and pertinent legislative and social factors, this volume highlights the importance of utilizing genetics/genomics knowledge to promote and achieve optimal health in the developing world. Grouped by geographic region, the chapters in this volume address: - Inherited disorders in the developing world, including a thorough look at genetic disorders in minority groups of every continent - The progress of diagnostic laboratory genetic testing, prenatal screening, and genetic counseling worldwide - Rising ethical and legal concerns of medical genetics in the developing world - Social, cultural, and religious issues related to genetic diseases across continents Both timely and vastly informative, this book is a unique and comprehensive resource for genetists, clinicians, and public health professionals interested in the social, ethical, economic, and legal matters associated with medical genetics in the developing world.
