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Signs and Symptoms of Genetic Conditions
Comprising 31 clinical protocols from the world's foremost clinical geneticists, this title provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms.
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...
Human Malformations and Related Anomalies
The central theme of this text is to provide information on individual anomalies et to connect these anomalies to the malformation syndromes et associated problems, primarily through the use of differential diagnostic tables.
Fetal and Neonatal Brain Injury
Authoritative, practical clinical text giving clear management advice on diagnosis, treatment and outcomes of all fetal and neonatal brain injuries.
Molecular Counting
The concept of a personal genome stems from the fact that every human genome is unique. Measuring the unique features of a personal genome would help uncover the genetic basis of diseases and traits, and would be increasingly important in clinical diagnosis especially with the growing emphasis on personalized medicine. This thesis focuses on exploring the power of molecular counting to develop novel strategies that address the inadequacy of existing technologies in measuring the unique features of a human genome. The first focus of the thesis is aneuploidy detection, which has major application in prenatal diagnosis. While karyotyping of fetal cells is well-established for detecting aneuploi...
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.
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...
Fanaroff and Martin's Neonatal-Perinatal Medicine E-Book
Fanaroff and Martin’s Neonatal-Perinatal Medicine covers everything you need to improve the quality of life and long-term outcomes of your patients. Drs. Richard J. Martin, Avroy A. Fanaroff, and Michele C. Walsh, along with a multi-disciplinary team of contributors guide you through the sweeping developments in diagnosis and treatment of the mother fetus, and neonate. The completely updated 9th edition keeps you current on the late preterm infant, the fetal origins of adult disease, neonatal anemia, genetic disorders, and more. Get comprehensive guidance on treating patients through a dual focus on neonatology and perinatology. See nuances and details in over 800 illustrations that depict...
Epstein's Inborn Errors of Development
Preceded by: Inborn errors of development / edited by Charles J. Epstein, Robert P. Erickson, Anthony Wynshaw-Boris. 2nd ed. 2008.
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...
