Author: Dr Kelsey M Finn Publisher: ISBN: Category : Languages : en Pages : 28
Book Description
This book tells the story of a mother who has Lynch Syndrome, a hereditary cancer condition, from the perspective of her two children. Lynch Syndrome affects 1 in every 279 people in the United States, and in turn, it affects many families. This book is intended to serve as a way to communicate with children about Lynch Syndrome, and help children understand what it means for both themselves and someone they know who is affected by Lynch Syndrome. This book also contains a section for parents of tips on how to talk with your child about Lynch Syndrome. This section is based on empirical, peer-reviewed research.
Author: Wendy R. Uhlmann Publisher: John Wiley & Sons ISBN: 1118210530 Category : Medical Languages : en Pages : 647
Book Description
The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.
Author: Ami McKay Publisher: Knopf Canada ISBN: 0345809467 Category : Biography & Autobiography Languages : en Pages : 322
Book Description
Weaving together family history, genetic discovery, and scenes from her life, Ami McKay tells the compelling, true-science story of her own family's unsettling legacy of hereditary cancer while exploring the challenges that come from carrying the mutation that not only killed many people you loved, but might also kill you. The story of Ami McKay's connection to a genetic disorder called Lynch syndrome begins over seventy years before she was born and long before scientists discovered DNA. In 1895 her great-great aunt, Pauline Gross, a seamstress in Ann Arbor, Michigan, confided to a pathology professor at the local university that she expected to die young, like so many others in her family. Rather than dismiss her fears, the pathologist chose to enlist Pauline in the careful tracking of those in her family tree who had died of cancer. Pauline's premonition proved true--she died at 46--but because of her efforts, her family (who the pathologist dubbed 'Family G') would become the longest and most detailed cancer genealogy ever studied in the world. A century after Pauline's confession, researchers would identify the genetic mutation responsible for the family's woes. Now known as Lynch syndrome, the genetic condition predisposes its carriers to several types of cancer, including colorectal, endometrial, ovarian and pancreatic. In 2001, as a young mother with two sons and a keen interest in survival, Ami McKay was among the first to be tested for Lynch syndrome. She had a feeling she'd test positive: her mother's side of the family was riddled with early deaths and her own mother was being treated for the disease. When the test proved her fears true, she began living in "an unsettling state between wellness and cancer," and she's been there ever since. Intimate, candid, and probing, her genetic memoir tells a fascinating story, teasing out the many ways to live with the hand you are dealt.
Author: John D. Potter Publisher: Springer ISBN: 9780387095677 Category : Medical Languages : en Pages : 309
Book Description
Genetic susceptibility refers to how variations in a person’s genes increase or decrease his or her susceptibility to environmental factors, such as chemicals, radiation and lifestyle (diet and smoking). This volume will explore the latest findings in the area of genetic susceptibility to gastrointestinal cancers, focusing on molecular epidemiology, DNA repair, and gene-environment interactions to identify factors that affect the incidence of GI cancers. Topics will include germline susceptibility, including Mendelian patterns of inheritance and gene-environment interactions that lead to cancer etiology.
Author: Kapil D. Sethi Publisher: Springer Nature ISBN: 3030537218 Category : Medical Languages : en Pages : 145
Book Description
This book addresses the challenges in the differential diagnosis and management of paroxysmal movement disorders. It provides the latest information on the genetics and pathophysiology, neurophysiology and neuroimaging of the core group of disorders in the field, namely the paroxysmal dyskinesias (PxD). Focused and concise, this guide features chapters that discuss other conditions that may be paroxysmal such as, episodic ataxia, startle syndromes and other more complicated groups of paroxysmal movement disorders such as ATP1A3 spectrum disorders. A chapter on secondary (acquired) paroxysmal dyskinesia highlights medical and other disorders that may result in paroxysmal dyskinesia. The book features a particularly nuanced chapter that discusses recent discoveries in the genetic aspects of PxD, relaying that paroxysmal dyskinesias are not channelpathies, but in fact are synaptophies and transportopathies. Additionally, expertly written chapters are supplemented by high quality images, tables, and videos. Paroxysmal Movement Disorders: A Practical Guide is primarily written to educate the reader on how to make a syndromic diagnosis of paroxysmal movement disorders and how to build the diagnostic work-up accordingly, as well as how to manage patients with paroxysmal movement disorders.
Author: Institute of Medicine Publisher: National Academies Press ISBN: 0309101115 Category : Medical Languages : en Pages : 425
Book Description
Clinical practice related to sleep problems and sleep disorders has been expanding rapidly in the last few years, but scientific research is not keeping pace. Sleep apnea, insomnia, and restless legs syndrome are three examples of very common disorders for which we have little biological information. This new book cuts across a variety of medical disciplines such as neurology, pulmonology, pediatrics, internal medicine, psychiatry, psychology, otolaryngology, and nursing, as well as other medical practices with an interest in the management of sleep pathology. This area of research is not limited to very young and old patientsâ€"sleep disorders reach across all ages and ethnicities. Sleep Disorders and Sleep Deprivation presents a structured analysis that explores the following: Improving awareness among the general public and health care professionals. Increasing investment in interdisciplinary somnology and sleep medicine research training and mentoring activities. Validating and developing new and existing technologies for diagnosis and treatment. This book will be of interest to those looking to learn more about the enormous public health burden of sleep disorders and sleep deprivation and the strikingly limited capacity of the health care enterprise to identify and treat the majority of individuals suffering from sleep problems.
Author: Siddhartha Mukherjee Publisher: Simon and Schuster ISBN: 1439170916 Category : Health & Fitness Languages : en Pages : 624
Book Description
Winner of the Pulitzer Prize and a documentary from Ken Burns on PBS, this New York Times bestseller is “an extraordinary achievement” (The New Yorker)—a magnificent, profoundly humane “biography” of cancer—from its first documented appearances thousands of years ago through the epic battles in the twentieth century to cure, control, and conquer it to a radical new understanding of its essence. Physician, researcher, and award-winning science writer, Siddhartha Mukherjee examines cancer with a cellular biologist’s precision, a historian’s perspective, and a biographer’s passion. The result is an astonishingly lucid and eloquent chronicle of a disease humans have lived with—and perished from—for more than five thousand years. The story of cancer is a story of human ingenuity, resilience, and perseverance, but also of hubris, paternalism, and misperception. Mukherjee recounts centuries of discoveries, setbacks, victories, and deaths, told through the eyes of his predecessors and peers, training their wits against an infinitely resourceful adversary that, just three decades ago, was thought to be easily vanquished in an all-out “war against cancer.” The book reads like a literary thriller with cancer as the protagonist. Riveting, urgent, and surprising, The Emperor of All Maladies provides a fascinating glimpse into the future of cancer treatments. It is an illuminating book that provides hope and clarity to those seeking to demystify cancer.
Author: J. Kim Penberthy Publisher: Routledge ISBN: 1000281531 Category : Psychology Languages : en Pages : 248
Book Description
Living Mindfully Across the Lifespan: An Intergenerational Guide provides user-friendly, empirically supported information about and answers to some of the most frequently encountered questions and dilemmas of human living, interactions, and emotions. With a mix of empirical data, humor, and personal insight, each chapter introduces the reader to a significant topic or question, including self-worth, anxiety, depression, relationships, personal development, loss, and death. Along with exercises that clients and therapists can use in daily practice, chapters feature personal stories and case studies, interwoven throughout with the authors’ unique intergenerational perspectives. Compassionate, engaging writing is balanced with a straightforward presentation of research data and practical strategies to help address issues via psychological, behavioral, contemplative, and movement-oriented exercises. Readers will learn how to look deeply at themselves and society, and to apply what has been learned over decades of research and clinical experience to enrich their lives and the lives of others.
Author: Catherine Maurice Publisher: Ballantine Books ISBN: 0449906647 Category : Family & Relationships Languages : en Pages : 401
Book Description
She was a beautiful doelike child, with an intense, graceful fragility. In her first year, she picked up words, smiled and laughed, and learned to walk. But then Anne-Marie began to turn inward. And when her little girl lost some of the words she had acquired, cried inconsolably, and showed no interest in anyone around her, Catherine Maurice took her to doctors who gave her a devastating diagnosis: autism. In their desperate struggle to save their daughter, the Maurices plunged into a medical nightmare of false hopes, "miracle cures," and infuriating suggestions that Anne-Marie's autism was somehow their fault. Finally, Anne-Marie was saved by an intensive behavioral therapy. Let Me Hear Your Voice is a mother's illuminating account of how one family triumphed over autism. It is an absolutely unforgettable book, as beautifully written as it is informative. "A vivid and uplifting story . . . Offers new strength to parents who refuse to give up on their autistic children." -- Kirkus Reviews "Outstanding . . . Heartfelt . . . A lifeline to families in similar circumstances." -- Library Journal
Author: Donna M. McDonald-McGinn Publisher: Academic Press ISBN: 0128160489 Category : Medical Languages : en Pages : 526
Book Description
The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology, prognosis, and recurrence risk associated with the chromosome 22q11.2 deletion syndrome. Leading international contributors cover the background, genetics, testing methods, and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in every applicable subspecialty, such as, cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology, neurology, and psychiatry, among other fields. This book presents an authoritative resource with full color images that enhance concept illustration and aid in real-time decision-making. As 22q11.2 deletion syndrome has become a model for understanding rare and frequent anomalies, numerous medical issues, cognitive and behavioral phenotypes, and later onset conditions, this text will become the go to resource for clinicians, researchers, trainees, and motivated family members, in gaining a full understanding of this complex chromosomal disorder. - Provides a complete description of 22q11.2 deletion syndrome for healthcare professionals, researchers, trainees, and families affected by this common condition - Presents diagnostic and treatment strategies to help tackle this complex and often undiagnosed and therefore undertreated condition - Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest clinical experience and research in the field - Features leading international contributors in numerous sub-specialties, representing the multisystem nature of this condition - Includes full color figures, flow charts, tables, and patient images to guide real-time decision-making
Author: Dr Kelsey M Finn
Author: Wendy R. Uhlmann
Author: Ami McKay
Author: John D. Potter
Author: Kapil D. Sethi
Author: Institute of Medicine
Author: Siddhartha Mukherjee
Author: J. Kim Penberthy
Author: Catherine Maurice
Author: Donna M. McDonald-McGinn