Jan 032017
 

Signs and Symptoms of Genetic Conditions: A Handbook


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.

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Dec 172016
 

A Practical Guide To End Of Life Care (UK Higher Education Humanities & Social Sciences Health & Social Welfare)


Covers palliative care and end of life skills needed by health care workers.
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Dec 032016
 

Organogenetic Gene Networks: Genetic Control of Organ Formation


All animals, including humans, derive from a single cell, which possesses all the genetic instructions needed to define how the animal will look like. However, during development, the millions of cells that derive from the zygote will only select part of this genetic information to give rise to the various organs of the body. The coordination of different cell behaviours during development results in the formation of specialized tissues and organs giving rise to highly adapted animals.  This book provides an overview of how this diversification is achieved during organ formation and how it may have evolved.  Conserved cellular processes are presented using examples from selected vertebrate and invertebrate species that illustrate how developmental biologists are solving the complex puzzle of organ formation. This volume is aimed to students, researchers and medical doctors alike who want to find a simple but rigorous introduction on how gene networks control organ formation.<
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Dec 022016
 

Muscle Gene Therapy: Methods and Protocols (Methods in Molecular Biology)


Features: Used Book in Good Condition

Gene therapy offers many conceptual advantages to treat muscle diseases, especially various forms of muscular dystrophies; however, it faces a number of unique challenges, including the need to deliver a therapeutic vector to all muscles throughout the body. In Muscle Gene Therapy: Methods and Protocols, expert researchers in the field present a collection of techniques aimed at bridging the translational gap in muscle gene therapy between the prevalent rodent models and vitally important larger animal models. Divided into three sections, this volume examines basic protocols for optimizing the muscle gene expression cassette and for evaluating the therapeutic outcomes, new developments in muscle gene therapy technology such as adeno-associated viral vector (AAV), oligonucleotide-mediated exon-skipping, and novel RNA-based strategies, and step-by-step guidance on muscle gene delivery in swine, ovine, canine, and non-human primates. Written in the highly successful Methods in Molecular Biology™ series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, detailed, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Muscle Gene Therapy: Methods and Protocols serves as an invaluable resource for graduate students, post-doctoral fellows, and principle investigators pursuing the crucial advancement of muscle disease gene therapy in the hope of someday curing these debilitating disorders.
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Dec 022016
 

The Age of Genomes: Tales from the Front Lines of Genetic Medicine


By (author): Steven Monroe Lipkin, Jon Luoma

A leading geneticist explores what promises to be one of the most transformative advances in health and medicine in history

Almost every week, another exciting headline appears about new advances in the field of genetics. Genetic testing is experiencing the kind of exponential growth once seen with the birth of the Internet, while the plummeting cost of DNA sequencing makes it increasingly accessible for individuals and families.

Steven Lipkin and Jon Luoma posit that today’s genomics is like the last century’s nuclear physics: a powerful tool for good if used correctly, but potentially dangerous nonetheless. DNA testing is likely the most exciting advance in a long time for treating serious disease, but sequencing errors, complex biology, and problems properly interpreting genetic data can also cause life-threatening misdiagnoses of patients with debilitating and fatal genetic diseases. DNA testing can also lead to unnecessary procedures and significantly higher health-care costs. And just around the corner is the ability to cure genetic diseases using powerful gene-editing technologies that are already being used in human embryo research. Welcome to the Age of Genomes!

The Age of Genomes immerses readers in true stories of patients on the frontier of genomic medicine and explores both the transformative potential and risks of genetic technology. It will inform anxious parents increasingly bombarded by offers of costly new prenatal testing products, and demonstrate how genetic technology, when deployed properly, can significantly improve the lives of patients who have devastating neurological diseases, cancer, and other maladies. Dr. Lipkin explains the science in depth, but in terms a layperson can follow.

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Nov 302016
 

DNA Methyltransferases – Role and Function (Advances in Experimental Medicine and Biology)


DNA methyltransferases are important enzymes in a broad range of organisms. Dysfunction of DNA methyltransferases in humans leads to many severe diseases, including cancer. This book focuses on the biochemical properties of these enzymes, describing their structures and mechanisms in bacteria, humans and other species, including plants, and also explains the biological processes of reading of DNA methylation and DNA demethylation. It covers many emerging aspects of the biological roles of DNA methylation functioning as an essential epigenetic mark and describes the role of DNA methylation in diseases. Moreover, the book explains modern technologies, like targeted rewriting of DNA methylation by designed DNA methyltransferases, as well as technological applications of DNA methyltransferases in DNA labelling. Finally, the book summarizes recent methods for the analysis of DNA methylation in human DNA. Overall, this book represents a comprehensive state-of-the-art- work and is a must-have for advanced researchers in the field of DNA methylation and epigenetics.
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Nov 272016
 

Normative and Pragmatic Dimensions of Genetic Counseling: Negotiating Genetics and Ethics (Philosophy and Medicine)


By (author): Joseph B. Fanning

This book provides an elaboration and evaluation of the dominant conceptions of genetic counseling as they are accounted for in three different models: the teaching model; the psychotherapeutic model; and the responsibility model. The elaboration of these models involves an identification of the larger traditions, visions and theories of communication that underwrite them; the evaluation entails an assessment of each model’s theses and ultimately a comparison of their adequacy in response to two important concerns in genetic counseling: the contested values of non-directiveness and the recognition of differences across perspectives, with special focus on how religious and spiritual beliefs of patients are coordinated with the networks of meaning in genetics. Several insights are made explicit in this project through the work of Robert Brandom. Brandom’s deontic scorekeeping model demonstrates how dialogue is at the root of grasping a conceptual content. Against this backdrop, professional communications such as genetic counseling can be seen as late developments in linguistic practices that have structural challenges. Brandom’s model reminds us that the professional needs the client’s understanding to grasp conceptual content in a particular context.  
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Nov 252016
 

Recent Advances in Stem Cells: From Basic Research to Clinical Applications (Stem Cell Biology and Regenerative Medicine)


This volume explores recent advances in the use of pluripotent stem cells (PSCs) and adult stem cells (ASCs) in basic and clinical applications.  The chapters discuss use of PSCs for drug screening, genome editing, modeling of kidney, motor neuron diseases, and diabetes as well as their application in cancer;  ASCs are discussed in the contexts of banking of umbilical cord stem cells, use of multipotential stromal cells (MSCs) for bone repair, cellular interactions during fracture repair stages, and therapeutic applications of neural crest stem cells and lung stem cells. The text is organized by sections dealing with PSCs and ASCs specifically, presenting the reader with a comprehensive examination of both these forms of stem cells.
Expertly authored and drawing from a wealth of international perspectives, Recent Advances in Stem Cells: From Basic Research to Clinical Applications presents a succinct yet detailed review of cutting-edge research in this rapidly expanding field. This installment of Springer’s Stem Cell Biology and Regenerative Medicine series is essential reading for academics, researchers, and clinicians in the fields of cell biology, genetics, nephrology, osteology, oncology, and pulmonology.
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Nov 182016
 

Immunonutrition: Interactions of Diet, Genetics, and Inflammation


The interaction of immune function and nutrition underlies the low-grade chronic inflammation involved in the etiology of many common obesity-associated and age-related chronic disease conditions. This close interaction is the genesis of the term immunonutrition, which represents a new interdisciplinary field of nutritional and medical research. Immunonutrition: Interactions of Diet, Genetics, and Inflammation introduces the breadth of this field, which implicates nutrition in both immune function and in the etiology, prevention, and treatment of common diseases influenced by inflammation and immune imbalance, including obesity, diabetes, heart disease, asthma, autoimmune diseases, and common forms of cancer.

The book begins by reviewing the basic mechanisms of immunity and cellular mechanisms of cytokine activation. It discusses the effects of dietary fat intake and changes in Western diet and lifestyle linked to inflammation. It also describes the interaction of genetics and environment in the modulation of immune function and inflammation, and addresses exercise and skeletal muscle as an endocrine and immune organ. The book reviews the entire spectrum of inflammation and cancer from causation to its role in tumor therapy. It examines abdominal obesity and metabolic diseases, interactions between nutrition and autoimmunity in systemic lupus erythematosus and rheumatoid arthritis, and inflammation associated with type 2 diabetes, heart disease, kidney disease, Alzheimer’s disease, and asthma.

Considering potential nutrition-based treatments, the book explores approaches for reducing abdominal obesity, anti-inflammatory effects of phytochemicals, practical strategies for increasing fruit and vegetable intake, and anti-inflammatory properties of spice phytonutrients. In addition, it explores how uninformed food choices related to fats and oils create a balance of tissue-selective signals that produce harmful health outcomes and how to restore a healthy balance.

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Nov 122016
 

Genotyping: Methods and Protocols (Methods in Molecular Biology)


This volume explores a broad range of different genotyping techniques. Genotyping: Methods and Protocols consists of chapters that cover numerous topics such as: an overview of multiplexed microsatellite analysis; High Resolution Melt analysis and TaqMan-based assays; in situ analysis of variants in single RNA molecules; the MassARRAY system and Molecular Inversion Probes; Pulsed Field Gel Electrophoresis, Paralogue Ratio Test, and Multiplex Ligation-Dependent Probe Amplification; long-range PCR combined with PacBio sequencing; Targeted Locus Amplification; Multilocus Sequence Typing and rapid SNP detection with pyrosequencing; and genotyping-by-sequencing for plant analysis. Finally, the volume concludes with a summary of pertinent points to describe genetic variation. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls.

Thorough and practical, Genotyping: Methods and Protocols is a valuable resource for anyone interested in learning more about the diverse field of genotyping.

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