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Signs and Symptoms of Genetic Conditions
Connecting an abnormal physical exam to a possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist. Comprising 31 clinical protocols from the world's foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential diagnosis. To maximize clinical utility, this handbook features: - Prominent flow chart diagrams that graphically depict the diagnostic approach - Concise recommendations for laboratory and/or imaging studies - Health supervision and management strategies for the most common conditions associated with each presenting sign or symptom Whether for the student, resident, or seasoned clinician, Signs and Symptoms of Genetic Conditions will serve as a frontline resource for navigating differential diagnosis.
The Practical Guide to the Genetic Family History
The Practical Guide to The Genetic Family History Robin L. Bennett Compiling the most recent genetic developments in medical specialties, The Practical Guide to the Genetic Family History is a valuable resource which outlines the proper methods for taking and recording a patient's family medical history, allowing primary care physicians to be more efficient in diagnosing conditions with potential genetic components. With genetic screening forms, an overview of directed questions, pedigree nomenclature, and outlining common approaches used, genetic counselor Robin L. Bennett provides readers with the basic foundation in human genetics necessary to recognize inherited disorders and familial di...
Human Malformations and Related Anomalies
This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. When known, the molecular or other pathogenetic basis for the malformation is given. Most anomalies are illustrated by photographs or drawings. Specific malformations are linked to syndromes through the extensive use of differential diagnosis tables. Over a decade has passed since the first edition of this book was published, an...
Neural Tube Defects
Neural tube defects affect about 4000 pregnancies each year and are thus among the most common of severe birth defects. Prenatal diagnosis can now detect about 70% of neural tube defects but the tests produce many false positives, so the question is under what circumstances should they be recommended. This comprehensive volume - the collective knowledge of more than 55 experts in the field - provides lucid and authoritative discussions on this topic as well as on a wide variety of theoretical, experimental, and clinical issues.
Genetic Skin Disorders
This valuable text represents a comprehensive survey of well over 300 distinct inherited dermatologic conditions. Each disease entry follows a consistent format, allowing the clinician to quickly scan and access key information for differential diagnosis. Each entry contains sections devoted to dermatologic features, associated clinical abnormalities, histopathology, biochemical and molecular information, treatment, mode of inheritance and recurrence risk, prenatal diagnosis, and information on differential diagnosis. In addition the author has included support group listings and detailed annotated references which will be of invaluable benefit for clinicians. The book is lavishly illustrate...
Duchenne Muscular Dystrophy
Fully revised and updated, the new edition of Duchenne Muscular Dystrophy discusses the recent advances in the field of molecular biology for prenatal diagnosis and genetic counselling to the recent pioneering work with anti-sense oligonucleotides, and the possibility of effective RNA therapy.
Genetic Skin Disorders
This fully revised and updated edition of GENETIC SKIN DISORDERS reflects the most current understanding of the diagnosis, treatment, genetic basis, and differential diagnoses of inherited skin disorders. Organized with the needs of busy clinicians in mind, it offers detailed clinical guidance on the signs, symptoms, mode of inheritance, recurrence risk, and diagnosis of over 300 skin disorders, all in an accessible, at-a-glance format. Annotated bibliographies highlight the most relevant and up-to-date medical literature. Newly compiled lists of support groups, both national and international, for patients and their families supplement the ample resources for medical professionals. Informed...
Management of Genetic Syndromes
The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagn...
The New Kinship
No federal law in the United States requires that egg or sperm donors or recipients exchange any information with the offspring that result from the donation. Donors typically enter into contracts with fertility clinics or sperm banks which promise them anonymity. The parents may know the donor’s hair color, height, IQ, college, and profession; they may even have heard the donor’s voice. But they don’t know the donor’s name, medical history, or other information that might play a key role in a child’s development. And, until recently, donor-conceived offspring typically didn’t know that one of their biological parents was a donor. But the secrecy surrounding the use of donor eggs...
Global Perspectives on Precision Medicine
This book presents the promises of Precision Medicine (PM) and the challenges of its implementation in daily clinical routine, while addressing the anticipated ethical and social implications. It is the first book that critically analyzes the potential and the dilemmas relevant to genomics and precision medicine from healthcare, public health and global perspectives. The nine chapters presented in this book elaborate on pharmacogenomics' crucial role in maximizing the potential benefits and minimizing medication's potential risks in groups of people, especially in cancer treatment and other health conditions. Infectious and non-communicable diseases (NCDs) are also discussed in this book by identifying challenges and ways to overcome them. Essential concepts are addressed, such as health-related benefits and harm to individuals and the broader community, including threats to individual privacy and autonomy, which warrant just distribution of scarce resources. The book also identifies and addresses the lack of competency in the healthcare workforce in the era of PM and discusses the path to laying the ethical foundation for the implementation of PM in healthcare organizations.
