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Description PDQ Medical Genetics challenges students to learn to think genetically, to recognize genetic factors, and to explain genetics to patients. The author presents an approach to solving clinical problems with genetic components rather than on the presentation of facts that would soon fall out of date. The text is problem-oriented. Each chapter opens with a case scenario designed to direct the student toward learning both the clinical and the basic biological science. The featured scenarios also provide direction in the dealing with a patient's, and family's, personal difficulties by listing genetic disease support groups. The informative text also emphasizes how to go about obtaining the latest information on such topics as molecular testing and imaging techniques. Key Features Features topics not found in most genetics texts designed primarily for medical students such as complex disorders, ambiguous genitalia, pharmacogenetics, and bone dyspasias. Includes a dual-platform mini-CD-ROM with the complete text and illustrations, in fully searchable PDF files Incorporates references and links to carefully selected websites for additional readings and a bonus self-assessment question and answer section for each chapter - all included on the accompanying CD-ROM This book will help students understand the nature of genetics and how its principles flow from those of evolution and natural selection. It provides to the medical student an approach to solving clinical probl ems and provides a conceptual framework within which to sort it all ou t. Davidson approaches the subject of medical genetics as students wil l encounter it - clinically. The book is problem-based, and each chapt er begins with a case scenario requiring a knowledge of genetics with which the practicing physician will have to come to grips fairly frequ ently with the emphasis on having the student recognize the applicatio ns of basic science data and solving the problem presented. It
Genetic susceptibility refers to how variations in a person’s genes increase or decrease his or her susceptibility to environmental factors, such as chemicals, radiation and lifestyle (diet and smoking). This volume will explore the latest findings in the area of genetic susceptibility to gastrointestinal cancers, focusing on molecular epidemiology, DNA repair, and gene-environment interactions to identify factors that affect the incidence of GI cancers. Topics will include germline susceptibility, including Mendelian patterns of inheritance and gene-environment interactions that lead to cancer etiology.
It has been recognized for almost 200 years that certain families seem to inherit cancer. It is only in the past decade, however, that molecular genetics and epidemiology have combined to define the role of inheritance in cancer more clearly, and to identify some of the genes involved. The causative genes can be tracked through cancer-prone families via genetic linkage and positional cloning. Several of the genes discovered have subsequently been proved to play critical roles in normal growth and development. There are also implications for the families themselves in terms of genetic testing with its attendant dilemmas, if it is not clear that useful action will result. The chapters in The Genetics of Cancer illustrate what has already been achieved and take a critical look at the future directions of this research and its potential clinical applications.
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.
Essentials of Medical Genetics for Health Professionals is a concise, accessible introduction to medical genetics for all health professions students. Even with limited exposure to genetics, students can use the accelerated approach in this text to attain a base foundation of genetics knowledge. This book begins with a review of chromosomes, DNA, RNA, protein synthesis, and inheritance patterns and continues with a clinical focus based on understanding different disease processes. A variety of genetic diseases are explored, including what is known about the genetics involved, the signs and symptoms of the disease, and the treatment options available. Accompanying tables and images aid comprehension. This book also covers diagnostic techniques and an overview of embryonic development and teratogens. The roles of genetic counseling and screening, as well as the ethical and legal issues related to genetic screening and genetic testing are also discussed. Complete with stated objectives, definition of key terms, references, chapter summaries and end of chapter review questions with answers, each chapter is organized for optimal learning. Essentials of Medical Genetics for Health Professionals will not only have application in the classroom setting for health professions or medical students, but practicing clinicians such as physician assistants, nurse practitioners, and physicians who want to learn more or revisit genetics will also find this book a valuable, useful resource. Instructor Resources include PowerPoint Slides, a TestBank, and an Image Bank.
This book provides a comprehensive and up-to-date review of all aspects of childhood Acute Lymphoblastic Leukemia, from basic biology to supportive care. It offers new insights into the genetic pre-disposition to the condition and discusses how response to early therapy and its basic biology are utilized to develop new prognostic stratification systems and target therapy. Readers will learn about current treatment and outcomes, such as immunotherapy and targeted therapy approaches. Supportive care and management of the condition in resource poor countries are also discussed in detail. This is an indispensable guide for research and laboratory scientists, pediatric hematologists as well as specialist nurses involved in the care of childhood leukemia.
This book covers all the relevant aspects of communication in cancer care, such as communication in cancer prevention and genetic counseling, communication at different stages of disease and communication with the family and children. In addition, more general topics are discussed, such as the benefits and evidence of communication skills training and the challenges of interdisciplinary and cross-cultural communication.
The third edition of PDQ Statistics provides an overview of all major statistical methods, giving the reader a good understanding of statistics and how they are used in research articles. It covers the major categories – variable and descriptive statistics, parametric statistics, non-parametric statistics, and multivariate statistics. The explanations are clear, succinct, and loaded with practical examples.
Focusing on practical, patient related issues, this volume provides the basic concepts of Evidence Based Medicine (EBM) as they relate to Pathology and Laboratory Medicine and presents various practical applications. It includes EBM concepts for use in the identification of cost-effective panels of immunostains and other laboratory tests and for improvement of diagnostic accuracy based on the identification of selected diagnostic features for particular differential diagnosis. EBM concepts are also put forth for use in Meta-analysis to integrate the results of conflicting literature reports and use of novel analytical tools such as Bayesian belief networks, neural networks, multivariate statistics and decision tree analysis for the development of new diagnostic and prognostic models for the evaluation of patients. This volume will be of great value to pathologists who will benefit from the concepts being promoted by EBM, such as levels of evidence, use of Bayesian statistics to develop diagnostic and other rules and stronger reliance on "hard data" to support therapeutic and diagnostic modalities.
This book provides a thorough overview of the ongoing evolution in the application of artificial intelligence (AI) within healthcare and radiology, enabling readers to gain a deeper insight into the technological background of AI and the impacts of new and emerging technologies on medical imaging. After an introduction on game changers in radiology, such as deep learning technology, the technological evolution of AI in computing science and medical image computing is described, with explanation of basic principles and the types and subtypes of AI. Subsequent sections address the use of imaging biomarkers, the development and validation of AI applications, and various aspects and issues relating to the growing role of big data in radiology. Diverse real-life clinical applications of AI are then outlined for different body parts, demonstrating their ability to add value to daily radiology practices. The concluding section focuses on the impact of AI on radiology and the implications for radiologists, for example with respect to training. Written by radiologists and IT professionals, the book will be of high value for radiologists, medical/clinical physicists, IT specialists, and imaging informatics professionals.