Genomics of Rare Diseases

Genomics of Rare Diseases PDF Author: Claudia Gonzaga-Jauregui
Publisher: Academic Press
ISBN: 0128204362
Category : Medical
Languages : en
Pages : 318

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Book Description
Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians

Genomics of Rare Diseases

Genomics of Rare Diseases PDF Author: Claudia Gonzaga-Jauregui
Publisher: Academic Press
ISBN: 0128204362
Category : Medical
Languages : en
Pages : 318

Get Book Here

Book Description
Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians

Understanding Zoonotic Diseases

Understanding Zoonotic Diseases PDF Author: Janet Amundson Romich
Publisher: Veterinary Technology
ISBN: 9781418021030
Category : Medical
Languages : en
Pages : 701

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Book Description
Understanding Zoonotic Diseases is written for both animal and human healthcare professionals and students that will help them understand specific zoonotic diseases. Designed as a stand-alone book, it introduces the reader to microbes including bacteria, fungi, parasites, viruses, and prions, and describes specific diseases that can be transmitted from animals to humans. Extensive use of images, photographs, tables, and clinically relevant comments helps the reader understand the role of animals in causing diseases in humans. Review questions at the end of each chapter and online critical thinking questions help the learner gain a deeper understanding of the material and aid in retention.

Ending Discrimination Against People with Mental and Substance Use Disorders

Ending Discrimination Against People with Mental and Substance Use Disorders PDF Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
ISBN: 0309439124
Category : Social Science
Languages : en
Pages : 171

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Book Description
Estimates indicate that as many as 1 in 4 Americans will experience a mental health problem or will misuse alcohol or drugs in their lifetimes. These disorders are among the most highly stigmatized health conditions in the United States, and they remain barriers to full participation in society in areas as basic as education, housing, and employment. Improving the lives of people with mental health and substance abuse disorders has been a priority in the United States for more than 50 years. The Community Mental Health Act of 1963 is considered a major turning point in America's efforts to improve behavioral healthcare. It ushered in an era of optimism and hope and laid the groundwork for the consumer movement and new models of recovery. The consumer movement gave voice to people with mental and substance use disorders and brought their perspectives and experience into national discussions about mental health. However over the same 50-year period, positive change in American public attitudes and beliefs about mental and substance use disorders has lagged behind these advances. Stigma is a complex social phenomenon based on a relationship between an attribute and a stereotype that assigns undesirable labels, qualities, and behaviors to a person with that attribute. Labeled individuals are then socially devalued, which leads to inequality and discrimination. This report contributes to national efforts to understand and change attitudes, beliefs and behaviors that can lead to stigma and discrimination. Changing stigma in a lasting way will require coordinated efforts, which are based on the best possible evidence, supported at the national level with multiyear funding, and planned and implemented by an effective coalition of representative stakeholders. Ending Discrimination Against People with Mental and Substance Use Disorders: The Evidence for Stigma Change explores stigma and discrimination faced by individuals with mental or substance use disorders and recommends effective strategies for reducing stigma and encouraging people to seek treatment and other supportive services. It offers a set of conclusions and recommendations about successful stigma change strategies and the research needed to inform and evaluate these efforts in the United States.

Understanding Diseases

Understanding Diseases PDF Author: Lippincott Williams & Wilkins
Publisher: Lippincott Williams & Wilkins
ISBN: 9781582556659
Category : Medical
Languages : en
Pages : 740

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Book Description
The Nursing series of handbooks presents core nursing information in the clear, conversational, practical style of the award-winning Nursing journal. Each handbook features to-the-point bulleted text, explanatory illustrations, and icons that echo familiar column names in the journal. Understanding Diseases covers more than 450 diseases and disorders in body-system organization. Coverage of each disorder includes causes, signs and symptoms, diagnostic tests that may be performed, up-to-date treatment modalities, nursing actions and considerations, and more. Icons include Action Stat! for urgent interventions, Alert for important clinical facts, Do's & Don'ts for intervention advice, and Drug Challenge for critical drug information.

Understanding Kidney Diseases

Understanding Kidney Diseases PDF Author: Hugh C. Rayner
Publisher: Springer
ISBN: 9783030430269
Category : Medical
Languages : en
Pages : 398

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Book Description
This book combines the reference material of a nephrology textbook with the everyday relevance of a clinical handbook. This second edition develops and expands upon the success of the first. All the content has been updated and entirely new chapters on acid-base disorders and stone disease have been added. Understanding Kidney Diseases includes over 60 real-life case studies and is illustrated with over 200 figures. Readers can test their knowledge with a bank of multiple-choice questions and put it into practice by answering questions that patients frequently ask. The book provides all that students, residents and fellows need in order to approach a patient with a kidney problem with confidence.

What You Need to Know about Infectious Disease

What You Need to Know about Infectious Disease PDF Author: Madeline Drexler
Publisher:
ISBN:
Category :
Languages : en
Pages :

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Book Description


ICPC, International Classification of Primary Care

ICPC, International Classification of Primary Care PDF Author: Henk Lamberts
Publisher: Oxford University Press, USA
ISBN:
Category : Language Arts & Disciplines
Languages : en
Pages : 228

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Book Description
Intended for family physicians and others in primary care delivery. Compatible with International classification of diseases, 9th ed.

Rare Diseases and Orphan Drugs

Rare Diseases and Orphan Drugs PDF Author: Jules J. Berman
Publisher: Academic Press
ISBN: 0124200095
Category : Medical
Languages : en
Pages : 407

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Book Description
Rare Diseases and Orphan Drugs shows that much of what we now know about common diseases has been achieved by studying rare diseases. It proposes that future advances in the prevention, diagnosis, and treatment of common diseases will come as a consequence of our accelerating progress in the field of rare diseases. Understanding the complex steps in the development of common diseases, such as cancer, cardiovascular disease, and metabolic diseases, has proven a difficult problem. Rare diseases, however, are often caused by aberrations of a single gene. In rare diseases, we may study how specific genetic defects can trigger a series of events that lead to the expression of a particular disease. Often, the disease process manifested in a certain rare disease is strikingly similar to the disease process observed in a common disease. This work ties the lessons learned about rare diseases to our understanding of common ones. Chapters covering the number of common diseases are minimized, while rare diseases are introduced as single diseases or as members of diseases classes. After reading this book, readers will appreciate how further research into the rare diseases may lead to new methods for preventing, diagnosing, and treating all diseases, rare or common. - Makes rare diseases relevant to clinicians and researchers by tying lessons learned about the rare diseases to our understanding of the common diseases - Stresses basic pathologic mechanisms that account for human disease (e.g., disorders of cell development, replication, maintenance, function and structure), that can be understood without prior training in pathology - Discusses advanced concepts in molecular biology and genetics in a simple, functional context appropriate for medical trainees and new researchers - Offers insights into how further research into rare diseases may lead to new methods for preventing, diagnosing, and treating all diseases

Understanding Diseases of the Human Body and Spirit

Understanding Diseases of the Human Body and Spirit PDF Author: Dr. Hak Fai Chiu
Publisher: WestBow Press
ISBN: 1490895825
Category : Religion
Languages : en
Pages : 211

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Book Description
Understanding Diseases of the Human Body and Spirit explores the congruence between the physical and spiritual dimensions of diseases. Illnesses are caused by genetic aberrations, environmental agents, pathogenic microbes, circulatory disturbances, unregulated tumor growths or abnormal immune reactions. The author, an experienced pathologist and life-long student of the Bible, explains how correlating factors are operative in producing humankinds spiritual infirmities. Narratives of pathological events in the body aptly illustrate and enhance understanding of scriptural teachings regarding the broken relationship of sinful humanity with God, the restoration of this relationship through salvation in Jesus Christ, the believers continual growth in spiritual health through the indwelling Holy Spirit, and the real hope of glorious transformation of their bodies in the hereafter. Dr. Chiu also contributes unique insights into subject matters which have engaged and troubled the minds of the sick, their loved ones, as well as theologians, pastors, bioethicists, lay-Christian workers and healthcare providers. These include the relationship between sin and disease, the perception of injustice when disease strikes (why me?), the significance of a persons life-history and value-systems to the experience of disease, the meaning of the biblical promise of healing, as well as homosexuality and the Bible, and the place of miracle cures. Take better care of your health by understanding the nature of diseases. Be inspired to pursue spiritual health in Christ which transcends illnesses and death.

An Epidemic of Absence

An Epidemic of Absence PDF Author: Moises Velasquez-Manoff
Publisher: Simon and Schuster
ISBN: 1439199396
Category : Biography & Autobiography
Languages : en
Pages : 416

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Book Description
A controversial, revisionist approach to autoimmune and allergic disorders considers the perspective that the human immune system has been disabled by twentieth-century hygiene and medical practices.