Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as:The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes
Each chapter of Medical Genetics is logically organized into three sections:Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care
Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.
To demonstrate and to provide clinicians with expert guidance, the authors have produced two volumes demonstrating the clinical features of Velo-Cardio-Facial Syndrome (VCFS); the communication phenotype in VCFS; the natural history of speech and language in VCFS; diagnostic procedures necessary for assessing speech and language disorders in VCFS; the treatment of speech and language impairment in VCFS; and outcomes.
This volume commences with a survey of the history of VCFS and provides an exhaustive description of the 190 phenotypes associated with the syndrome, including speech and language, hearing, cognition, and many other critically affected areas. The genetics of VCFS are extensively covered, including inheritance factors and an exploration of the genome deletion. Thereafter, a range of triage options across a wide variety of medical and allied health disciplines is given, before concluding with a final chapter on growth, weight gain, and feeding.
Features mini-summaries, study questions, suggested reading, and a detailed glossary to supplement and reinforce what you learn from the text.
Demonstrates clinical relevance through over 230 photographs, illustrations, and tables, along with boxes containing patient/family vignettes.Enhances the visual impact of the material with full-color illustrations throughout the text for easier and more effective learning and retention.
Presents a new chapter on genomics and personalized medicine for the latest on these hot topics.
Provides you with the latest knowledge and research on gene identification, cancer genetics, gene testing and gene therapy, common disorders, ethical and social issues, and much more so you can keep up with current developments in genetics.
Includes study questions at the end of every chapter so you can test yourself and retain the material.
Features additional clinically commentary boxes throughout the text to show the relevance of genetics to everyday patient problems to prepare you for problem-based integrated courses.
In utero diagnosis has undergone an amazing revolution in recent years. More tests are available; the indications for prenatal diagnosis have expanded - you can now advise your patients about disorders you could not have previously detected. Medical training for obstetricians, medical geneticists, and genetic counselors has not kept pace with these developments. Clinical exposure to common and unusual problems in prenatal diagnosis is limited.
Prenatal Diagnosis: Clinical Cases and Challenges, based on the authors’ several decades of experiences, fills this gap. Real cases portray diagnostic problems as a route to the underlying biology, the available testing options, and the results that might be obtained. The authors discuss the challenges of management, interpretation, and counseling.
Cases used throughout emphasize three types of clinical problems:Chromosomal abnormalities Mendelian disorders Fetal structural abnormalities
The decision to enter the world of prenatal diagnosis should be very carefully considered by any prospective mother. Prenatal Diagnosis: Clinical Cases and Challenges will help you discuss the issues in an informed manner with your patients.
REFRESH YOUR GENETIC KNOWLEDGE AND ENHANCE YOUR PATIENT CARE
We now know that genetic factors can cause disease or affect an individual's susceptibility or resistance to disorders and even to treatment. To provide the best nursing care, it is therefore essential that practitioners and students have a basic knowledge of the science of genetics and how it affects the major areas of nursing expertise.
To address this need, Dr. Felissa Lashley has created this "essentials" guide specifically for nurses. From genetic factors and trends affecting health care today, to the more complex discussions of human variation, every genetic topic critical to the practice of nursing and nursing education is covered, including:
Prevention of Genetic DiseaseGenetic Testing and TreatmentGenetic CounselingMaternal-Child NursingPsychiatric/Mental Health NursingCommunity/Public Health NursingTrends, Policies, and Social and Ethical Issues
Each chapter examines how genetic information influences treatment and management and is intended to further the development of a nurse's "genetic eye" in the daily care of patients.