Genetic Consultations in the Newborn PDF Download
Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download Genetic Consultations in the Newborn PDF full book. Access full book title Genetic Consultations in the Newborn by Robin D. Clark. Download full books in PDF and EPUB format.
Author: Robin D. Clark
Publisher: Oxford University Press
ISBN: 0190931043
Category : Medical
Languages : en
Pages : 401
Get Book Here
Book Description
"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.
Author: Robin D. Clark
Publisher: Oxford University Press
ISBN: 0190931043
Category : Medical
Languages : en
Pages : 401
Get Book Here
Book Description
"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.
Author: Robin D. Clark
Publisher:
ISBN: 9780190916503
Category : MEDICAL
Languages : en
Pages :
Get Book Here
Book Description
Author: Wendy R. Uhlmann
Publisher: John Wiley & Sons
ISBN: 1118210530
Category : Medical
Languages : en
Pages : 647
Get Book Here
Book Description
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.
Author: Stefan Timmermans
Publisher: University of Chicago Press
ISBN: 022627361X
Category : Medical
Languages : en
Pages : 320
Get Book Here
Book Description
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
Author: Bonnie S. LeRoy
Publisher: John Wiley & Sons
ISBN: 1119529859
Category : Medical
Languages : en
Pages : 416
Get Book Here
Book Description
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.
Author: Marilyn J. Hockenberry
Publisher: Elsevier Health Sciences
ISBN: 0323932967
Category : Medical
Languages : en
Pages : 1470
Get Book Here
Book Description
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.
Author: Michael J. Gambello
Publisher: Elsevier Health Sciences
ISBN: 0323356850
Category : Medical
Languages : en
Pages : 281
Get Book Here
Book Description
Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.
Author: Ulf Kristoffersson
Publisher: Springer Science & Business Media
ISBN: 9048139198
Category : Medical
Languages : en
Pages : 400
Get Book Here
Book Description
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.
Author: Helen V. Firth
Publisher: Oxford University Press, USA
ISBN: 9780192628961
Category : Medical
Languages : en
Pages : 708
Get Book Here
Book Description
Judith G. Hall is a 2011 Fellow of The Royal Society of Canada. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.
Author: Marilyn J. Hockenberry
Publisher: Elsevier Health Sciences
ISBN: 0323293409
Category : Medical
Languages : en
Pages : 1845
Get Book Here
Book Description
The most trusted authority in pediatric nursing, Wong's Nursing Care of Infants and Children provides unmatched, comprehensive coverage of pediatric growth, development, and conditions. Its unique 'age and stage' approach covers child development and health promotion as well as specific health problems organized by age groups and body systems. Leading pediatric experts Dr. Marilyn Hockenberry and David Wilson provide an evidence-based, clinical perspective based on nearly 30 years of hands-on experience. Easy to read and extensively illustrated, this edition focuses on patient-centered outcomes and includes updates on topics such as the late preterm infant, immunizations, the H1N1 virus, and childhood obesity. A clear, straightforward writing style makes content easy to understand. Unique Evidence-Based Practice boxes help you apply both research and critical thought processes to support and guide the outcomes of nursing care. Unique Atraumatic Care boxes contain techniques for care that minimize pain, discomfort, or stress. Unique Critical Thinking exercises help you test and develop your own analytical skills. A unique focus on family content emphasizes the role and influence of the family in health and illness with a separate chapter, discussions throughout the text, and family-centered care boxes. Nursing Care Guidelines provide clear, step-by-step, detailed instructions on performing specific skills or procedures. Unique Emergency Treatment boxes serve as a quick reference for critical situations. Unique Cultural Awareness boxes highlight ways in which variations in beliefs and practices affect nursing care for children. A developmental approach identifies each stage of a child's growth. Health promotion chapters emphasize principles of wellness and injury prevention for each age group. Student-friendly features include chapter outlines, learning objectives, key points, references, and related topics and electronic resources to help you study and review important content. A community focus helps you care for children outside the clinical setting. Nursing Care Plans include models for planning patient care, with nursing diagnoses, patient/family goals, nursing interventions/rationales, expected outcomes, and NIC and NOC guidelines. Nursing Tips include helpful hints and practical, clinical information, and Nursing Alerts provide critical information that must be considered in providing care.
