Clinical Genetics and Genomics of Aging

 Genetics  Comments Off on Clinical Genetics and Genomics of Aging
May 122020
 

The world population is rapidly aging―it is estimated that by 1950, around 17% of the population will be elderly. In this context, aging involves several physiological, psychological and highly complex social processes that vary from one person to another. For a long time, medical care for older adults has focused on treating chronic, age-related diseases and their associated consequences. Recently, biomedical research brings a novel point of view to develop more effective interventions by targeting the aging process itself rather than separate conditions. There is a growing number of reports indicating that aging is driven by several interconnected mechanisms and biological components referred to as the molecular pillars of aging. Interfering with these mechanisms could help to treat, prevent, and understand the development of age-related diseases and associated syndromes. This book provides a clinical perspective and general update on biomedical and genetic research in aging, moving from an update in the molecular pillars of aging to a perspective of the most recent pharmacological, clinical, and diagnostic applications using genomic approaches and techniques. While this book focuses on the specifics of genetics and genomics, it also adopts a clinical perspective of geroscience, which seeks to understand the genetic, molecular and cellular mechanisms that make aging an important risk factor and, sometimes, a determining factor in the diseases and common chronic conditions of older people. Additionally, Clinical Genetics and Genomics of Aging is a significant contribution to support aging research, as it shows that collaboration across disciplines is relevant to progress in the field. As more and more people benefit from increased longevity, clinician and researchers will be empowered by this knowledge to contribute to the progress of aging research.

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Genetics for Oncologists: The Molecular Genetic Basis of Oncologic Disorders (Remedica Genetics)

 Genetics, Oncology  Comments Off on Genetics for Oncologists: The Molecular Genetic Basis of Oncologic Disorders (Remedica Genetics)
May 112020
 

During the past decade enormous progress has been made in our understanding of the molecular genetic basis of many oncological disorders, and such information is already beginning to impact on clinical practice. This book provides oncologists with a concise summary of what is presently known about the genetic basis of monogenic and polygenic oncologic disorders. The glossary provides a thorough grounding in the fundamentals of genetic terminology and techniques. With its quick reference format, “Genetics for Oncologists” is designed for use by busy practitioners.
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Genomic Medicine: A Practical Guide

 Genetics  Comments Off on Genomic Medicine: A Practical Guide
May 112020
 

The field of Molecular Diagnostics is rapidly evolving and molecular characterization of neoplasms is becoming an increasingly important part of the pathologic work up and diagnosis of many tumor types. This work provides a high-yield reference book that compiles critical information related to molecular biomarkers for various solid tumor and hematologic malignancy subtypes.
It is succinct yet comprehensive enough to be suitable for fellows in training and medical professionals with an interest in molecular pathology and biomarkers. The book covers many aspects of molecular diagnostics, from techniques to applications and comprehensive summaries of the current molecular biomarkers of critical importance in solid and liquid tumors. Attention is also specifi cally devoted to bioinformatics and next generation sequencing, as well as pre-analytical issues that must be considered for accurate interpretation of molecular results in the context of overall patient care.
This text focuses on clinical utility and validity and serves as an “owner’s manual” in Genomic Diagnostics for the practicing pathologist, pathology fellows and residents and other health care providers. Physicians will find this book invaluable as a quick reference for current molecular testing modalities and guidelines, tumor board preparation, deciding which test to order and interpreting genomic laboratory results. In addition, it is an accessible for trainees as a board review preparation reference.

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Reverse Genetics of RNA Viruses: Applications and Perspectives

 Genetics, Microbiology  Comments Off on Reverse Genetics of RNA Viruses: Applications and Perspectives
Apr 052020
 

Reverse genetics, the genetic manipulation of RNA viruses to create a wild-type or modified virus, has led to important advances in our understanding of viral gene function and interaction with host cells. Since many severe viral human and animal pathogens are RNA viruses, including those responsible for polio, measles, rotaviral diarrhoea and influenza infections, it is also an extremely powerful technique with important potential application for the prevention and control of a range of human and animal viral diseases.

Reverse Genetics of RNA Viruses provides a comprehensive account of the very latest developments in reverse genetics of RNA viruses through a wide range of applications within each of the core virus groups including; positive sense, negative sense and double stranded RNA viruses. Written by a team of international experts in the field, it provides a unique insight into how the field has developed, what problems are being addressed now and where applications may lead in the future. It will prove invaluable to bioscience, medical and veterinary students, those starting research in this area as well as other researchers and teachers needing to update their knowledge of this fast-moving field.

– An authoritative, comprehensive overview of reverse genetics in RNA Viruses.

– Includes numerous examples of cutting- edge applications of reverse genetics within each of the RNA viral groups.

– Written by a team of international experts, including some of the leading researchers in the field.

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Syndromes of the Head and Neck (Oxford Monographs on Medical Genetics, No. 42)

 Genetics  Comments Off on Syndromes of the Head and Neck (Oxford Monographs on Medical Genetics, No. 42)
Mar 072020
 

This classic text, one of the true anchors of our clinical genetics publishing program, covers over 700 different genetic syndromes involving the head and neck, and it has established itself as the definitive, comprehensive work on the subject. The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. The authors are recognized leaders in the field, and their vast knowledge and strong clinical judgment will help readers make sense of this complex and burgeoning field. Dr. Gorlin retires as editor in this edition and co-editor Raoul Hennekam takes over. Dr. Hennekam is regarded as one of the top dysmorphologists–and indeed one of the top clinical geneticists–in the world. Judith Allanson is new to the book but is a veteran OUP author and a widely respected geneticist, and Ian Krantz at Penn is a rising star in the field. Dr. Gorlin’s name has always been closely associated with the book, and it has now become part of the title. As in all fields of genetics, there has been an explosion in the genetics of dysmorphology syndromes, and the author has undertaken a complete updating of all chapters in light of the discoveries of the Human Genome Project and other ongoing advances, with some chapters requiring complete rewriting. Additional material has been added both in terms of new syndromes and in updating information on existing syndromes. The book will appeal to clinical geneticists, pediatricians, neurologists, head and neck surgeons, otolarynologists, and dentists. The 4th edition, which published in 2001, has sold 2,600 copies.
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The Genetics and Development of Scoliosis

 Genetics  Comments Off on The Genetics and Development of Scoliosis
Mar 042020
 

The Genetics and Development of Scoliosisedited by Kenro Kusumi, Ph.D.Table of Contents: Genetic Regulation of Somite and Early Spinal Patterning Kenro Kusumi, Ph.D., Walter Eckalbar, Olivier Pourquie, Ph.D. Development and Functional Anatomy of the Spine J. Alan Rawls, PhD and Rebecca E. Fisher, PhD Environmental Factors and Axial Skeletal Dysmorphogenesis Peter G. Alexander, Ph.D. and Rocky Tuan, Ph.D.Overview and Comparison of Idiopathic, Neuromuscular, and Congenital Forms of Scoliosis Benjamin Alman, M.D.Abnormal Vertebral Segmentation (or Segmentation Defects of the Vertebrae) and the Spondylocostal Dysostoses Peter D. Turnpenny, M.B.Ch.B.Spondylothoracic Dysostosis in Puerto Rico Alberto Santiago Cornier, M.D., Ph.D.Progress in Understanding Genetic Contributions in Syndromic and Non-Syndromic Disorders Associated with Congenital, Neuromuscular, and Idiopathic Scoliosis Philip F. Giampietro, M.D., Ph.D.Genetics and Functional Pathology of Idiopathic Scoliosis Nancy Hadley Miller, M.D.Current Understanding of Genetic Factors in Idiopathic Scoliosis Carol A. Wise, Ph.D. and Swarkar Sharma, Ph.D.Conclusion: Trends and Predictions for Genetic and Developmental Biological Research on Scoliosis Kenro Kusumi, Ph.D.
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Principles of Psychiatric Genetics

 Genetics, Psychiatry  Comments Off on Principles of Psychiatric Genetics
Feb 262020
 

Disorders of behavior represent some of the most common and disabling diseases affecting humankind; however, despite their worldwide distribution, genetic influences on these illnesses are often overlooked by families and mental health professionals. Psychiatric genetics is a rapidly advancing field, elucidating the varied roles of specific genes and their interactions in brain development and dysregulation. Principles of Psychiatric Genetics includes 22 disorder-based chapters covering, amongst other conditions, schizophrenia, mood disorders, anxiety disorders, Alzheimer’s disease, learning and developmental disorders, eating disorders and personality disorders. Supporting chapters focus on issues of genetic epidemiology, molecular and statistical methods, pharmacogenetics, epigenetics, gene expression studies, online genetic databases and ethical issues. Written by an international team of contributors, and fully updated with the latest results from genome-wide association studies, this comprehensive text is an indispensable reference for psychiatrists, neurologists, psychologists and anyone involved in psychiatric genetic studies.

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Molecular Genetics of Liver Neoplasia

 Genetics  Comments Off on Molecular Genetics of Liver Neoplasia
Feb 252020
 

Cancer is a genetic disease and cancer research is a broad discipline embracing investigators and clinicians with diverse backgrounds. This new edition of Molecular Genetics of Liver Neoplasia intends to provide a comprehensive view on genetics and a mechanistic understanding of liver cancer. The book covers from molecular pathogenesis and cellular origin to translational genomics of liver cancer. The leading experts in the field of liver cancer have thoroughly summarized the latest developments and have provided current viewpoints and novel concepts. This cutting-edge volume is a vital resource for today’s basic cancer researchers, graduate students, medical students and clinicians interested in hepatocarcinogenesis.
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Muscular Dystrophy : I’m Grateful I’ve Proved Them Wrong

 Genetics  Comments Off on Muscular Dystrophy : I’m Grateful I’ve Proved Them Wrong
Feb 162020
 

This book presents muscular dystrophy (MD) as a group of genetic diseases with a worldwide occurrence of about 1 in 3,500 births that causes muscle wasting and weakening.

It describes Duchenne MD as the most common type of MD, almost exclusively affecting males at a rate of about 1 in 5,000 boys, and eight rarer types of MD that are categorized by age of onset, muscles affected, disease progression, severity of symptoms, and health complications. The author describes how physical examination, muscle biopsy, medical imaging, and genetic testing is used to diagnose MD He further explains the underlying causes of the various types of MD as mutations in genes that encode proteins needed for the development, function, maintenance, and replacement of muscle cells and illustrates patterns by which they are inherited.

There is no treatment that can reverse the progressive deterioration of muscles caused by MD, but the book offers insight into drug treatments and physical therapies that help maintain muscle strength and reduce health complications. It concludes with explanations of promising new ways to treat or perhaps cure MD, including experimental drugs, stem cell therapy, and gene therapy.

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Lashley’s Essentials of Clinical Genetics in Nursing Practice, Second Edition

 Genetics, Nursing  Comments Off on Lashley’s Essentials of Clinical Genetics in Nursing Practice, Second Edition
Feb 102020
 

Today’s nurses must be able to “think genetically” to help individuals and families who are affected by genetic disease or contemplating genetic testing. This book is a classic resource for nursing students and practitioners at all levels who need to acquire the knowledge and skills for using genomics in their practice. This completely updated second edition encompasses the many recent advances in genetic research and knowledge, providing essential new information on the science, technology, and clinical application of genomics. It focuses on the provision of individualized patient care based on personal genetics and dispositions. The second edition is designed for use by advanced practice nursing programs, as well as undergraduate programs. It pinpoints new developments in prenatal, maternity, and pediatric issues and supplies new information on genomics-based personal drug therapy, environmental susceptibilities, genetic therapies, epigenetics, and ethics.

The text features a practical, clinically oriented framework in line with the core competencies defined by the AACN. It delivers information according to a life-span approach used in the practice setting. The second edition continues to provide basic information on genomics, its impact on health care, and genetic disorders. It covers prevention, genetic counseling and referral, neuropsychiatric nursing, and public health. The core of the text presents information on a variety of diseases that affect patients throughout the life span, with specific guidance on the nursing role. Also included are tests for a variety of diseases and information on pharmacogenomics, which enable health care providers to select the best drugs for treatment based on a patient’s genetic makeup. Plentiful case study examples support the information throughout. Additionally, an instructor’s package of PowerPoint slides and a test bank are provided.

New to the Second Edition:

– Completely updated

– Personal drug therapy based on genomics

– Environmental susceptibilities

– Prenatal detection and diagnosis

– Newborns and genetic screening

– Reproductive technologies

– Ethical issues

– Genetic therapies

– Epigenetics

– Includes content for graduate-level programs

– PowerPoint slides and a test bank for all student levels

Key Features:

– Encompasses state-of-the-art genomics from a nursing perspective

– Provides a practical, clinically oriented life-span approach

– Covers science, technology, and clinical application of genomics

– Addresses prevention, genetic testing, and treatment methods

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