Medical Genetics

Medical Genetics

Author: G. Bradley Schaefer

Publisher: McGraw Hill Professional

Published: 2013-11-22

Total Pages: 385

ISBN-13: 0071819282

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A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.


Conservation Genetics in Mammals

Conservation Genetics in Mammals

Author: Jorge Ortega

Publisher: Springer Nature

Published: 2020-01-24

Total Pages: 374

ISBN-13: 3030333345

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This book focuses on the use of molecular tools to study small populations of rare and endangered mammals, and presents case studies that apply an evolutionary framework to address innovative questions in the emerging field of mammalian conservation genomics using a highly diverse set of novel molecular tools. Novel and more precise molecular technologies now allow experts in the field of mammology to interpret data in a more contextual and empirical fashion and to better describe the evolutionary and ecological processes that are responsible for the patterns they observe. The book also demonstrates how recent advances in genetic/genomic technologies have been applied to assess the impact of environmental/anthropogenic changes on the health of small populations of mammals. It examines a range of issues in the field of mammalian conservation genomics, such as the role that the genetic diversity of the immune system plays in disease protection and local adaptation; the use of noninvasive techniques and genomic banks as a resource for monitoring and restoring populations; the structuring of population by physical barriers; and genetic diversity. Further, by integrating research from a variety of areas – including population genetics, molecular ecology, systematics, and evolutionary and conservation biology – it enables readers to gain a deeper understanding of the conservation biology of mammals that are at increasing risk of extinction at local, regional and global scales. As such, it offers a unique resource for a broad readership interested in the conservation biology of mammals and conservation management strategies to better preserve biodiversity.


Biosocial Surveys

Biosocial Surveys

Author: National Research Council

Publisher: National Academies Press

Published: 2008-01-06

Total Pages: 429

ISBN-13: 0309108675

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Biosocial Surveys analyzes the latest research on the increasing number of multipurpose household surveys that collect biological data along with the more familiar interviewerâ€"respondent information. This book serves as a follow-up to the 2003 volume, Cells and Surveys: Should Biological Measures Be Included in Social Science Research? and asks these questions: What have the social sciences, especially demography, learned from those efforts and the greater interdisciplinary communication that has resulted from them? Which biological or genetic information has proven most useful to researchers? How can better models be developed to help integrate biological and social science information in ways that can broaden scientific understanding? This volume contains a collection of 17 papers by distinguished experts in demography, biology, economics, epidemiology, and survey methodology. It is an invaluable sourcebook for social and behavioral science researchers who are working with biosocial data.


Genes, Behavior, and the Social Environment

Genes, Behavior, and the Social Environment

Author: Institute of Medicine

Publisher: National Academies Press

Published: 2006-11-07

Total Pages: 384

ISBN-13: 0309133815

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Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.


PSYCHOLOGICAL SUPPORT BY COGNITIVE BEHAVIORAL THERAPY FOR SICKLE CELL DISEASE

PSYCHOLOGICAL SUPPORT BY COGNITIVE BEHAVIORAL THERAPY FOR SICKLE CELL DISEASE

Author: Edenilson Brandl

Publisher: Edenilson Brandl

Published:

Total Pages: 981

ISBN-13:

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Sickle Cell Disease (SCD) is a complex and multifaceted condition, not only in terms of its physical symptoms but also in the psychological and emotional toll it can take on those affected. Throughout my career and experiences with individuals navigating this illness, I have come to understand the profound impact that mental health has on managing chronic disease. This book, Psychological Support by Cognitive Behavioral Therapy for Sickle Cell Disease, is born from the desire to bridge the gap between medical treatment and psychological support for individuals living with SCD. Cognitive Behavioral Therapy (CBT) has long been recognized as an effective tool in managing psychological distress, particularly in chronic illness settings. By addressing the thoughts, feelings, and behaviors that arise from the experience of illness, CBT helps individuals reclaim a sense of control and empowerment in their daily lives. For those with Sickle Cell Disease, who often experience unpredictable episodes of pain, fatigue, and other physical symptoms, having a reliable psychological framework for managing these challenges is crucial. This book is designed to provide a comprehensive, accessible guide for individuals, caregivers, and mental health professionals. We explore the biological basis of SCD, alongside the genetic and hereditary aspects, to provide a solid understanding of the disease. But we also go beyond biology—delving into how trauma, mental health, and cognitive processes influence the overall experience of SCD. The tools of CBT are presented in a structured way, offering readers practical techniques to manage both the psychological and physical burdens of the disease. Additionally, we delve into various cognitive behavioral strategies that can be tailored to each individual’s needs, whether through personalized therapeutic approaches, pain management, or navigating the complexities of living with a genetic illness. The book also addresses specific challenges such as societal pressures, navigating medical bureaucracy, and the emotional impact on family dynamics. Ultimately, this book aims to provide hope and resilience, not only through scientific knowledge but also through practical strategies that foster mental and emotional strength. My hope is that, through the tools and approaches outlined here, individuals with Sickle Cell Disease will find support in their journey toward well-being.


PSYCHOLOGICAL SUPPORT BY COGNITIVE BEHAVIORAL THERAPY FOR KLINEFELTER SYNDROME

PSYCHOLOGICAL SUPPORT BY COGNITIVE BEHAVIORAL THERAPY FOR KLINEFELTER SYNDROME

Author: Edenilson Brandl

Publisher: Edenilson Brandl

Published:

Total Pages: 1479

ISBN-13:

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Klinefelter Syndrome (KS) is one of the most common genetic conditions, yet it remains a relatively underrecognized aspect of health and wellness. Characterized by the presence of an extra X chromosome in males, this syndrome can lead to a variety of physical, psychological, and emotional challenges that impact individuals and their families. The complexities of Klinefelter Syndrome extend far beyond its biological implications, as those affected often navigate a landscape marked by unique struggles related to identity, self-esteem, and interpersonal relationships. In this book, we aim to bridge the gap between genetic understanding and psychological support by emphasizing the vital role of Cognitive Behavioral Therapy (CBT) in the management and treatment of Klinefelter Syndrome. Our goal is to provide a comprehensive guide that integrates scientific insights from genetics and psychology, offering practical tools and strategies for both individuals with KS and their healthcare providers. The journey through Klinefelter Syndrome can often feel isolating, laden with societal pressures and misconceptions. Many individuals with KS grapple with feelings of inadequacy, trauma, and confusion regarding their identities and futures. By employing the principles of CBT, we can help facilitate a shift in perspective, empowering individuals to reframe their experiences, develop resilience, and embrace their unique identities. Throughout the chapters, we will explore a wide range of topics, from the biological underpinnings of Klinefelter Syndrome to the psychological tools that can foster healing and growth. Each section is designed to build upon the last, weaving together insights from genetics, trauma, mental health, and therapeutic practices. We delve into the specific challenges faced by those with KS, offering targeted strategies to cope with pain, anxiety, stigma, and the emotional toll of living with a genetic condition. It is my hope that this book serves as a resource not only for individuals affected by Klinefelter Syndrome but also for family members, healthcare professionals, and educators seeking to better understand the complexities of this condition. By fostering a supportive and informed community, we can enhance the quality of life for those with KS, helping them navigate their unique journeys with confidence and hope. Thank you for joining me on this important exploration of Klinefelter Syndrome and the profound impact of psychological support through Cognitive Behavioral Therapy. Together, we can work towards a future where individuals with KS are empowered to lead fulfilling lives, unencumbered by stigma or limitation.


Genetics of Colorectal Cancer

Genetics of Colorectal Cancer

Author: John D. Potter

Publisher: Springer

Published: 2008-12-08

Total Pages: 309

ISBN-13: 9780387095677

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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.


PSYCHOLOGICAL SUPPORT BY COGNITIVE BEHAVIORAL THERAPY FOR FRAGILE X SYNDROME

PSYCHOLOGICAL SUPPORT BY COGNITIVE BEHAVIORAL THERAPY FOR FRAGILE X SYNDROME

Author: Edenilson Brandl

Publisher: Edenilson Brandl

Published:

Total Pages: 1381

ISBN-13:

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Fragile X Syndrome (FXS) is the most common inherited form of intellectual disability and is associated with a wide range of developmental, behavioral, and emotional challenges. The impact of this condition is felt not only by individuals diagnosed with FXS but also by their families and caregivers who must navigate the complexities of daily life with a genetic disorder. As research in genetics and psychology advances, new therapeutic strategies are emerging to address the emotional and psychological aspects of living with a condition like FXS. In this book, "Psychological Support by Cognitive Behavioral Therapy for Fragile X Syndrome," I aim to provide a comprehensive guide that merges knowledge of FXS with practical Cognitive Behavioral Therapy (CBT) tools. This manual is designed to serve individuals with FXS, their families, and mental health professionals, offering insights into how CBT techniques can be adapted to meet the unique needs of those affected by this genetic condition. The book begins with a foundational understanding of FXS, its genetic background, and its biological and psychological impact. We explore essential topics such as trauma, hereditary and genetic diseases, and epigenetics, providing readers with a solid base in both the science and the lived experience of those with FXS. These topics set the stage for understanding the behavioral challenges often encountered and offer a gateway into the therapeutic strategies that follow. Cognitive Behavioral Therapy has long been recognized as an effective tool for managing emotional and psychological difficulties, especially in the context of chronic illness. In this book, I have dedicated significant space to CBT principles, practices, and specialized approaches tailored for those with Fragile X Syndrome. From basic techniques like cognitive restructuring and behavioral activation to advanced strategies such as mindfulness and schema therapy, the goal is to equip both professionals and families with the resources necessary to foster emotional resilience, improve mental health, and manage the day-to-day challenges that come with FXS. Pain management, both physical and emotional, is another central theme of the book. Individuals with FXS often experience a variety of physical discomforts tied to their condition, such as back pain, joint pain, and issues stemming from developmental or genetic abnormalities. This book not only addresses the cognitive strategies for dealing with emotional pain but also includes practical approaches for managing chronic physical pain that individuals with FXS may endure. I also emphasize the importance of personalized therapeutic approaches. Every person with Fragile X Syndrome experiences the condition differently, and their treatment should reflect that individuality. By providing an array of CBT tools and practices, this book encourages a tailored approach, where therapists, caregivers, and families can choose the strategies that best meet their needs. Ultimately, this book is a resource designed to empower. Whether you are a mental health professional, a caregiver, or an individual directly impacted by Fragile X Syndrome, it is my hope that this guide provides not only practical tools but also inspiration for fostering a better quality of life and psychological well-being.


Juvenile Delinquency: An Integrated Approach

Juvenile Delinquency: An Integrated Approach

Author: James Burfeind

Publisher: Jones & Bartlett Publishers

Published: 2011-01-28

Total Pages: 406

ISBN-13: 1449654339

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Juvenile Delinquency: An Integrated Approach, Second Edition offers a comprehensive introduction to juvenile delinquency. Now in a more concise and accessible format, this text cultivates an understanding of juvenile delinquency by examining and linking key sociological and criminological theories and research. Biological and psychological apporaches to delinquency are covered, as well as responses to deliquent behavior includuing prevention, early intervention, and contemporary juvenile justice.


PSYCHOLOGICAL SUPPORT BY COGNITIVE BEHAVIORAL THERAPY FOR DUCHENNE MUSCULAR DYSTROPHY

PSYCHOLOGICAL SUPPORT BY COGNITIVE BEHAVIORAL THERAPY FOR DUCHENNE MUSCULAR DYSTROPHY

Author: Edenilson Brandl

Publisher: Edenilson Brandl

Published:

Total Pages: 1256

ISBN-13:

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Duchenne Muscular Dystrophy (DMD) is a life-altering genetic disorder that affects the physical, emotional, and psychological well-being of individuals and their families. It brings with it a range of physical challenges, from progressive muscle weakness to chronic pain, but also a host of emotional and mental health issues, such as depression, anxiety, and feelings of loss or inadequacy. As advances in medical science allow individuals with DMD to live longer, the importance of addressing their mental health becomes increasingly evident. This book aims to bridge the gap between the physical and psychological care of those affected by DMD, offering practical tools through Cognitive Behavioral Therapy (CBT) to help manage the emotional and psychological effects of living with this chronic condition. By combining insights into the biology and genetics of DMD with CBT techniques, this book offers a holistic approach to addressing both the physical and mental health challenges that accompany the disorder. The topics within this book range from an introduction to the basics of genetics and epigenetics to specific CBT tools designed to help individuals and their families navigate the emotional complexities of living with DMD. Whether you are a healthcare provider, caregiver, or someone affected by Duchenne Muscular Dystrophy, this resource will provide you with strategies for coping with the psychological impacts, fostering resilience, and improving overall well-being. By focusing on both the scientific and therapeutic aspects of DMD, we hope to offer a well-rounded approach to the treatment and support of those living with this condition. This book is designed to be a practical guide, filled with actionable steps, coping mechanisms, and a deep understanding of the cognitive and emotional needs that arise from living with a degenerative condition. We believe that with the right psychological support, it is possible to manage not just the physical aspects of DMD, but also to foster emotional strength and mental resilience. This is not just about surviving with DMD; it is about thriving, finding hope, and cultivating a life filled with meaning and purpose despite the challenges. We sincerely hope that this book will serve as a valuable resource for those affected by DMD and for professionals seeking to enhance their understanding and care for this community.