Clinical Genomics: Practical Applications for Adult Patient Care

Clinical Genomics: Practical Applications for Adult Patient Care

Author: Michael F. Murray (Physician)

Publisher: McGraw Hill Professional

Published: 2014

Total Pages: 960

ISBN-13: 0071622446

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The first book on the clinical application of genetics in primary care medicine, Clinical Genomics focuses on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. Unlike traditional textbooks on medical genetics and dysmorphology, this is a clinical reference that covers many of the common diseases seen in everyday medical practice. Features: endorsed by the American College of Physicians; addresses the genetic basis of common chronic diseases, not just the classic diseases of dysmorphology.


Implementing and Evaluating Genomic Screening Programs in Health Care Systems

Implementing and Evaluating Genomic Screening Programs in Health Care Systems

Author: National Academies of Sciences, Engineering, and Medicine

Publisher: National Academies Press

Published: 2018-05-16

Total Pages: 151

ISBN-13: 0309473446

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Genomic applications are being integrated into a broad range of clinical and research activities at health care systems across the United States. This trend can be attributed to a variety of factors, including the declining cost of genome sequencing and the potential for improving health outcomes and cutting the costs of care. The goals of these genomics-based programs may be to identify individuals with clinically actionable variants as a way of preventing disease, providing diagnoses for patients with rare diseases, and advancing research on genetic contributions to health and disease. Of particular interest are genomics- based screening programs, which will, in this publication, be clinical screening programs that examine genes or variants in unselected populations in order to identify individuals who are at an increased risk for a particular health concern (e.g., diseases, adverse drug outcomes) and who might benefit from clinical interventions. On November 1, 2017, the National Academies of Sciences, Engineering, and Medicine hosted a public workshop to explore the challenges and opportunities associated with integrating genomics-based screening programs into health care systems. This workshop was developed as a way to explore the challenges and opportunities associated with integrating genomics-based programs in health care systems in the areas of evidence collection, sustainability, data sharing, infrastructure, and equity of access. This publication summarizes the presentations and discussions from the workshop.


Geriatric Notes

Geriatric Notes

Author: Jamie W. Smith

Publisher: Jones & Bartlett Learning

Published: 2018-08-21

Total Pages: 436

ISBN-13: 1284153827

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Geriatric Notes is an essential quick reference for the advanced practice provider (APP) who provides care to elders in the outpatient setting, such as nursing homes, family practice, or home health. With a practical, accessible, and concise approach, it offers an easy to understand overview of the most common diagnoses, topics, and symptoms encountered in the aging population. Designed to offer access to the basics, this guide provides tables and bullet points for easy reference. Sections include health promotion, neurology and psychiatry, cardiovascular, pulmonary, gastroenterology, genitourinary, rheumatology, dermatology, endocrinology, labs, Beers list, and common presentations.


Goldman-Cecil Medicine E-Book

Goldman-Cecil Medicine E-Book

Author: Lee Goldman

Publisher: Elsevier Health Sciences

Published: 2019-08-16

Total Pages: 4602

ISBN-13: 0323550878

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To be the best doctor you can be, you need the best information. For more than 90 years, what is now called Goldman-Cecil Medicine has been the authoritative source for internal medicine and the care of adult patients. Every chapter is written by acclaimed experts who, with the oversight of our editors, provide definitive, unbiased advice on the diagnosis and treatment of thousands of common and uncommon conditions, always guided by an understanding of the epidemiology and pathobiology, as well as the latest medical literature. But Goldman-Cecil Medicine is not just a textbook. Throughout the lifetime of each edition, periodic updates continually include the newest information from a wide range of journals. Furthermore, Goldman-Cecil Medicine is available for all users of ClinicalKey, Elsevier's full library of subspecialty textbooks that can be accessed by readers who may want even more in-depth information. - More than 400 chapters authored by a veritable "Who's Who" of modern medicine - A practical, templated organization with an emphasis on evidence-based references - Thousands of algorithms, figures, and tables that make its information readily accessible - Supplemented by over 1500 board-style questions and answers to help you prepare for certification and recertification examinations


Case Studies in Geriatric Primary Care & Multimorbidity Management

Case Studies in Geriatric Primary Care & Multimorbidity Management

Author: Karen Dick

Publisher: Elsevier Health Sciences

Published: 2019-01-29

Total Pages: 691

ISBN-13: 0323479936

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Awarded first place in the 2019 AJN Book of the Year Awards in the Gerontologic Nursing category second place in the Advanced Practice Nursing category. Gain expert primary care of older adults with a case-based approach to geriatric primary care and multimorbidity management Written by two leading academic and clinical experts in geriatric primary care, Case Studies in Geriatric Primary Care and Multimorbidity Management, 1st Edition uses detailed Exemplar Case Studies and Practice case studies to teach you how to think like an expert geriatric clinician. Because most older adults have more than one condition when seeking care, both Exemplar and Practice Case Studies place a strong emphasis on "multimorbidity" management, (the management of patients with a host of complex, interacting conditions). To provide extensive practice in learning how to think like an expert, case studies reflect the reality that care does not necessarily begin or end in the primary care setting, cases move fluidly from primary care to acute care to inpatient rehabilitation to assisted living to long-term care. Building on foundational introductory chapters, cases also call on you to develop interprofessional collaboration skills and reflect the diversity of today's older adults, in terms of age (young-old to old-old), gender, culture, ethnicity, sexuality, socioeconomic status, and more! As you work through both basic-level and advanced Practice Case Studies, you can make extensive notes in the printed book and then go online to submit answers for grading and receive expert feedback for self-reflection. - NEW! Introductory unit on the core principles of caring for older adults gives you a strong foundation in the principles of geriatric primary care and multimorbidity management. - NEW! and UNIQUE! Exceptionally detailed, unfolding Exemplar Case Studies demonstrate how an expert advanced practitioner "thinks clinically" to provide care to older adults with multiple conditions. - NEW and UNIQUE! Exceptionally detailed, unfolding Practice Case Studies emphasize patient diversity and multimorbidity management across healthcare settings to help you develop advanced clinical reasoning skills for geriatric primary care. - NEW and UNIQUE! Strong emphasis on multimorbidity management focuses on caring for older adults with multiple chronic conditions. - NEW! Emphasis on the continuum of care across settings reflects the reality that care does not necessarily begin or end in the primary care setting but can move from primary care to acute care to inpatient rehabilitation to assisted living to long-term care, and so forth. - NEW! Online answer submission for grading and expert feedback for self-reflection. - NEW! Emphasis on patient diversity reflects the makeup of today's older adult, population in terms of age (young-old to old-old), gender, culture, ethnicity, sexuality, socioeconomic status, and more. - NEW! Emphasis on interprofessional collaboration use Exemplar Case Studies and Practice Case Studies to allow you to demonstrate your interprofessional collaboration skills.


Handbook of Clinical Adult Genetics and Genomics

Handbook of Clinical Adult Genetics and Genomics

Author: Shweta Dhar

Publisher: Academic Press

Published: 2020-04-10

Total Pages: 530

ISBN-13: 0128173459

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Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. - Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders - Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics - Features chapter contributions from authors at leading adult genetics institutions in the US and abroad


Retinitis Pigmentosa

Retinitis Pigmentosa

Author: Stephen H. Tsang

Publisher: Springer Nature

Published: 2022-12-08

Total Pages: 402

ISBN-13: 1071626515

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This volume details the history of Retinitis Pigmentosa and current treatment options. Chapters guide readers through CRISPR, gene therapy, stem cell therapy, next-generation sequencing methods, gene editing, and translational applications of other therapies to the treatment of Retinitis Pigmentosa. Written in the 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 protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Retinitis Pigmentosa aims to be a useful practical guide to researches to help further their study in this field.


Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics

Author: Reed E. Pyeritz

Publisher: Elsevier

Published: 2024-10-23

Total Pages: 1227

ISBN-13: 0128152354

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For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for students, health providers, and researchers involved in the care of patients with genetic conditions, and increasingly, all areas of health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals related to the applications of medical genetics and genomics across the full spectrum of inherited disorders and applications to medicine more broadly. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to developmental disorders, as well as genetic conditions that affect hearing and vision. Here genetic researchers, students, and health professionals will find new and fully revised chapters on human developmental genetics, disorders affecting craniofacial development, chromosomal abnormalities, including aneuploidies and structural abnormalities, hereditary hearing impairment, and various genetic conditions of the eye. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. · Thoroughly introduces genetic researchers, students, and healthcare professionals to the principles of human developmental genetics · Examines a wide range of developmental disorders, including craniofacial development as well as disorders affecting hearing and vision · Includes color images supporting identification, concept illustration, and method processing · Features contributions by leading international researchers and practitioners of medical genetics


Genomic Medicine

Genomic Medicine

Author: Dhavendra Kumar

Publisher: Oxford Monographs on Medical G

Published: 2014-10-15

Total Pages: 853

ISBN-13: 019989602X

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Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.