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Clinical Dna Variant Interpretation

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Clinical DNA Variant Interpretation

Clinical DNA Variant Interpretation Book
Author : Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle
Publisher : Academic Press
Release : 2020-11-01
ISBN : 0128205202
Language : En, Es, Fr & De

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Book Description :

We live in a very exciting time in the field of human genetics; NGS technology is generating enormous amounts of data for classifying genetic variants. However, defining the role of these variants in human health and disease can be difficult, especially when a variant’s mechanism of action or the phenotype associated with a genetic mutation are not well defined. Work in multidisciplinary teams and development of multifactorial algorithms, including artificial intelligence and machine learning approaches, are integral to streamlining variant classification. Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, brings more than thirty international experts together to compile variant interpretation best practices and approaches in a single volume, covering foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians, and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature; international consensus guidelines; population allele frequency; functional evidence transcripts for RNA, proteins, and enzymes; somatic mutations and somatic profiling; CNV interpretation; quantitative modeling; machine learning approaches; genomic data sharing; genetic testing in clinical practice; and holistic case-level interpretation. Biomedical specialties of relevance include internal medicine, medical genetics, oncology, psychiatry, neurology, and immunology, and those driving implementation of precision medicine and personalized treatments. Compiles best practices, methods, and sound evidence for DNA variant classification in one, applied volume Features chapter contributions from international leaders in the field Includes practical examples of variant classification for common and rare disorders and across clinical phenotypes

Clinical Genomics

Clinical Genomics Book
Author : Shashikant Kulkarni,John Pfeifer
Publisher : Academic Press
Release : 2014-11-10
ISBN : 0124051731
Language : En, Es, Fr & De

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Book Description :

Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing. Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigm Tried and tested practice-based analysis for precision diagnosis and treatment plans Specific pipelines and meta-analysis for full range of clinically important variants

Medical and Health Genomics

Medical and Health Genomics Book
Author : Dhavendra Kumar,Stylianos Antonarakis
Publisher : Academic Press
Release : 2016-06-04
ISBN : 0127999221
Language : En, Es, Fr & De

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Book Description :

Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems

Clinical Immunology E Book

Clinical Immunology E Book Book
Author : Robert R. Rich,Thomas A. Fleisher,William T. Shearer,Harry W. Schroeder Jr.,Anthony J. Frew,Cornelia M. Weyand
Publisher : Elsevier Health Sciences
Release : 2018-01-13
ISBN : 0702070394
Language : En, Es, Fr & De

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Book Description :

Keep abreast of the latest advances in this complex field with the 5th Edition of Clinical Immunology: Principles and Practice. This substantially revised edition by Drs. Robert R. Rich, Thomas A. Fleisher, William T. Shearer, Harry W. Schroeder, Jr., Anthony J. Frew, and Cornelia M. Weyand, offers authoritative guidance from some of the most respected global leaders in immunology, helping you navigate today’s latest knowledge and evidence-based practices that result in improved patient care. This trusted resource features sweeping content updates, rewritten chapters, a highly clinical perspective, and an easy-to-use organization designed to enhance your diagnosis and management skills in daily practice. Includes new chapters on the Microbiota in Immunity and Inflammation, Immune Responses to Fungi, and Genetics and Genomics of Immune Response. Features extensive revisions to many chapters, including the Major Histocompatibility Complex, Multiple Sclerosis, Diabetes and Related Autoimmune Diseases, Biologic Modifiers of Inflammation and Tumor Immunotherapy. Covers hot topics such as the role of genetics and genomics in immune response and immunologic disease, atherosclerosis, recurrent fever syndromes, aging and deficiencies of innate immunity, the role of microbiota in normal immune system development and the pathogenesis of immunologic and inflammatory diseases, and novel therapeutics. Addresses notable advances in key areas such as the importance of the microbiota to normal immune system development and to the pathogenesis of immunologic and inflammatory diseases; relationships between the innate and adaptive immune systems; progress in rapid and cost-effective genomics; cell signaling pathways and the structure of cell-surface molecules; and many more. Summarizes promising research and development anticipated over the next 5-10 years with "On the Horizon" boxes and discussion of translational research.

Advances in Molecular Pathology E Book 2019

Advances in Molecular Pathology  E Book 2019 Book
Author : Gregory J. Tsongalis
Publisher : Elsevier Health Sciences
Release : 2019-11-06
ISBN : 0323709516
Language : En, Es, Fr & De

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Book Description :

This issue of Advances in Molecular Pathology will provide a comprehensive review of the most current practices, trends, and developments in the field of Molecular Pathology. Publishing on an annual basis, the volume will be divided into 7 sections: Genetics, Hematopathology, Infectious Disease, Pharmacogenomics, Informatics, Solid tumors, and Identity/HLA. Led by Dr. Gregory Tsongalis of Dartmouth University, a team of experienced pathologists from institutions across the country oversee annual topic and expert author selection.

Precision Medicine in Practice Molecular Diagnosis Enabling Precision Therapies An Issue of the Clinics in Laboratory Medicine EBook

Precision Medicine in Practice  Molecular Diagnosis Enabling Precision Therapies  An Issue of the Clinics in Laboratory Medicine  EBook Book
Author : Ryan J. Schmidt
Publisher : Elsevier Health Sciences
Release : 2020-06-21
ISBN : 0323758460
Language : En, Es, Fr & De

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Book Description :

This issue of Clinics in Laboratory Medicine will cover Precision Medicine in Practice: Molecular Diagnosis Enabling Precision Therapies. Curated by Dr. Ryan J. Schmidt, this issue is one of four selected each year by the series Consulting Editor, Milenko Tanasijevic. The volume will include articles on: Features of a Comprehensive Precision Medicine Program for Constitutional Genetic Disorders, Establishing a Precision Medicine Center of Excellence for Rare Disease, High-throughput DNA Sequencing for Rare Disease Diagnosis, Enhancing Diagnosis through RNA Sequencing, Interpretation of Rare Genetic Variants, Clinical Bioinformatics, Precision Therapies for Retinal Dystrophy, Precision Therapies for Muscular Dystrophy, Therapeutic Gene Editing, High Throughput Functional Studies of Genetic Variants, and Patient-specific Disease Models.

Essentials of Cancer Genomic Computational Approaches and Precision Medicine

 Essentials of Cancer Genomic  Computational Approaches and Precision Medicine Book
Author : Nosheen Masood,Saima Shakil Malik
Publisher : Springer Nature
Release : 2020-03-20
ISBN : 9811510679
Language : En, Es, Fr & De

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Book Description :

This book concisely describes the role of omics in precision medicine for cancer therapies. It outlines our current understanding of cancer genomics, shares insights into the process of oncogenesis, and discusses emerging technologies and clinical applications of cancer genomics in prognosis and precision-medicine treatment strategies. It then elaborates on recent advances concerning transcriptomics and translational genomics in cancer diagnosis, clinical applications, and personalized medicine in oncology. Importantly, it also explains the importance of high-performance analytics, predictive modeling, and system biology in cancer research. Lastly, the book discusses current and potential future applications of pharmacogenomics in clinical cancer therapy and cancer drug development.

Cytogenetic Abnormalities

Cytogenetic Abnormalities Book
Author : Susan Mahler Zneimer
Publisher : John Wiley & Sons
Release : 2014-08-21
ISBN : 1118412567
Language : En, Es, Fr & De

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Book Description :

This guide discusses chromosomal abnormalities and how best to report and communicate lab findings in research and clinical settings. Providing a standard approach to writing cytogenetic laboratory reports, the guide further covers useful guidance on implementing International System for Human Cytogenetic Nomenclature in reports. Part one of the guide explores chromosomal, FISH, and microarray analysis in constitutional cytogenetic analyses, while part two looks at acquired abnormalities in cancers. Both sections provide illustrative examples of chromosomal abnormalities and how to communicate these findings in standardized laboratory reports.

Ferri s Clinical Advisor 2014 E Book

Ferri s Clinical Advisor 2014 E Book Book
Author : Fred F. Ferri
Publisher : Elsevier Health Sciences
Release : 2013-06-19
ISBN : 0323084311
Language : En, Es, Fr & De

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Book Description :

Ferri's Clinical Advisor is the fastest, most effective way to access current diagnostic and therapeutic information on more than 700 common medical conditions. Dr. Fred Ferri’s popular "5 books in 1" format provides quick guidance on menorrhagia, Failure to Thrive (FTT), Cogan’s syndrome, and much more. Now featuring expanded online components, it makes the answers you need for your family practice even easier to find - anytime, anywhere. Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets, tables, boxes, and algorithms to expedite reference. Review normal values and interpret results for more than 200 lab tests. Get the insurance billing codes you require, including ICD-9-CM codes, to expedite insurance reimbursements. Improve your family healthcare practice’s efficiency with cost-effective referral and consultation guidelines. Identify and treat a broader range of disorders, including renal and epidural abscess and cardio-renal syndrome, with 23 new topics in the Diseases & Disorders section. Improve your interpretation of presenting symptoms with 39 new topics in the Differential Diagnosis section, and optimize patient care with 12 new tables in the Clinical Practice Guidelines section. Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets, tables, boxes, and algorithms to expedite reference. Get the insurance billing codes you require for your family healthcare practice with ICD-9-CM codes, to expedite insurance reimbursements. Access full-color images and 65 online-only topics at Expert Consult, as well as online-only contents including EBMs, Suggested Reading, Patient Teaching Guides, and additional algorithms.

Clinical Reproductive Medicine and Surgery E Book

Clinical Reproductive Medicine and Surgery E Book Book
Author : Tommaso Falcone,William Hurd
Publisher : Elsevier Health Sciences
Release : 2007-04-26
ISBN : 0323076599
Language : En, Es, Fr & De

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Book Description :

Clinical Reproductive Medicine and Surgery is the new, definitive resource in reproductive medicine. This unique text offers detailed discussion on both the medical and surgical management of reproductive disorders, as well as coverage of associated imaging modalities. Included are chapters on Reproductive Genetics, Management of Endometriosis (including interventional radiology), Ultrasonography and Sonohysterography, Preservation of Fertility, and Recurrent Pregnancy Loss. A resource every practitioner interested in Reproductive Endocrinology and Infertility needs! Offers detailed discussion of medical and surgical management of reproductive disorders ... No other text offers coverage of both medical and surgical management in one resource. Covers gynecologic disorders that impact fertility--an important aspect of identifying fertility issues, not included in major competition Section on basic reproductive biology ... Not overly detailed -- Written for a clinician to understand how to practice reproductive medicine Section on reproductive imaging ... Unique to this text - includes US and MRI of the reproductive organs Algorithm in each chapter ... 4-color throughout ... Demonstrates the appropriate clinical investigation and management ... Offers attractive layout and best views of surgical procedures

Cardiac Sodium Channel Disorders An Issue of Cardiac Electrophysiology Clinics

Cardiac Sodium Channel Disorders  An Issue of Cardiac Electrophysiology Clinics  Book
Author : Hugues Abriel
Publisher : Elsevier Health Sciences
Release : 2015-09-01
ISBN : 0323326412
Language : En, Es, Fr & De

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Book Description :

The sodium channel, a ubiquitous member of the cardiac, neural, and muscular conduction systems, has been implicated in the pathogenesis of an array of human diseases. Mutations associated with the cardiac sodium channel are responsible for a wide spectrum of disorders. The cardiac sodium channel and associated disorders are comprehensively examined in this issues of the Cardiac Electrophysiology Clinics.

Medical Sciences E Book

Medical Sciences E Book Book
Author : Jeannette Naish,Denise Syndercombe Court
Publisher : Elsevier Health Sciences
Release : 2014-05-02
ISBN : 0702052493
Language : En, Es, Fr & De

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Book Description :

An integrated approach to teaching basic sciences and clinical medicine has meant that medical students have been driven to a range of basic science textbooks to find relevant information. Medical Sciences is designed to do the integration for you. In just one book, the diverse branches of medical science are synthesised into the appropriate systems of the human body, making this an invaluable aid to approaching the basics of medicine within in a clinical context. . An integrated approach to teaching basic sciences and clinical medicine has meant that medical students have been driven to a range of basic science textbooks to find relevant information. Medical Sciences does the integration for you. In just one book, the diverse branches of medical science are synthesised into the appropriate systems of the human body, making this an invaluable aid to approaching the basics of medicine within in a clinical context. Eleven new contributors. Completely new chapters on Biochemistry and cell biology, Genetics, The nervous system, Bones, muscle and skin, Endocrine and reproductive systems, The cardiovascular system, The renal system and Diet and nutrition. Completely revised and updated throughout with over 35 new illustrations . Expanded embryology sections with several new illustrations.

Cardiovascular Genetics and Genomics in Clinical Practice

Cardiovascular Genetics and Genomics in Clinical Practice Book
Author : Donna K. Arnett, PhD,Sanjiv J. Shah, MD
Publisher : Demos Medical Publishing
Release : 2014-11-10
ISBN : 1617051780
Language : En, Es, Fr & De

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Book Description :

Weighted Numerical Score: 100 - 5 Stars! This is a systematic guide to cardiovascular genetics and genomics from basic concepts to clinical application. It organizes a large volume of information from an active area of research, which holds promise for future discovery. --Doody's Reviews Cardiovascular Genetics and Genomics in Clinical Practice presents clinical cases to illuminate basic concepts of cardiovascular genetics and genomics as practitioners encounter them in day-to-day practice. The unique use of real-world case discussions facilitates the memorization and understanding of basic principles, which can be more readily applied to actual cases. Cardiovascular Genetics and Genomics in Clinical Practice features a step-by-step learning process that begins with an easy-to-understand "primer" of basic scientific concepts regarding cardiovascular genetics and genomics followed by state-of-the-art research and applications for treatment of cardiovascular disorders. Expert clinicians and researchers describe illustrative cases for each topic along with detailed discussions of current scientific understanding and its application in current disease management and treatment. Summaries, key teaching points, and illustrations are highlighted to facilitate quick recall and review. The book will be useful for cardiovascular clinicians in training, board preparation, or as a review for those already in clinical practice. Cardiovascular Genetics and Genomics in Clinical Practice features: Clinical case scenarios to illuminate the basic concepts of cardiovascular genetics and genomics as they are used in daily practice Explanation of fundamental concepts as a foundation for more in-depth understanding Detailed discussions of current scientific knowledge and clinical management The expertise of renowned clinician-scientists in the field Real practical insight for practice

Tietz Textbook of Clinical Chemistry and Molecular Diagnostics E Book

Tietz Textbook of Clinical Chemistry and Molecular Diagnostics   E Book Book
Author : Carl A. Burtis,Edward R. Ashwood,David E. Bruns
Publisher : Elsevier Health Sciences
Release : 2012-10-14
ISBN : 1455759422
Language : En, Es, Fr & De

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Book Description :

As the definitive reference for clinical chemistry, Tietz Textbook of Clinical Chemistry and Molecular Diagnostics, 5th Edition offers the most current and authoritative guidance on selecting, performing, and evaluating results of new and established laboratory tests. Up-to-date encyclopedic coverage details everything you need to know, including: analytical criteria for the medical usefulness of laboratory procedures; new approaches for establishing reference ranges; variables that affect tests and results; the impact of modern analytical tools on lab management and costs; and applications of statistical methods. In addition to updated content throughout, this two-color edition also features a new chapter on hemostasis and the latest advances in molecular diagnostics. Section on Molecular Diagnostics and Genetics contains nine expanded chapters that focus on emerging issues and techniques, written by experts in field, including Y.M. Dennis Lo, Rossa W.K. Chiu, Carl Wittwer, Noriko Kusukawa, Cindy Vnencak-Jones, Thomas Williams, Victor Weedn, Malek Kamoun, Howard Baum, Angela Caliendo, Aaron Bossler, Gwendolyn McMillin, and Kojo S.J. Elenitoba-Johnson. Highly-respected author team includes three editors who are well known in the clinical chemistry world. Reference values in the appendix give you one location for comparing and evaluating test results. NEW! Two-color design throughout highlights important features, illustrations, and content for a quick reference. NEW! Chapter on hemostasis provides you with all the information you need to accurately conduct this type of clinical testing. NEW! Six associate editors, Ann Gronowski, W. Greg Miller, Michael Oellerich, Francois Rousseau, Mitchell Scott, and Karl Voelkerding, lend even more expertise and insight to the reference. NEW! Reorganized chapters ensure that only the most current information is included.

Exome Sequence Analysis and Interpretation

Exome Sequence Analysis and Interpretation Book
Author : Vinod Scaria,Sridhar Sivasubbu
Publisher : Research in Genomics
Release : 2015-02-11
ISBN :
Language : En, Es, Fr & De

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Book Description :

A concise handbook on exome sequencing for clinicians and clinical geneticists.

Comprehensive Pediatric Nephrology E Book

Comprehensive Pediatric Nephrology E Book Book
Author : Denis F. Geary,Franz Schaefer
Publisher : Elsevier Health Sciences
Release : 2008-05-16
ISBN : 0323070965
Language : En, Es, Fr & De

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Book Description :

This new clinical resource brings you a state-of-the-art comprehensive review on every clinical condition encountered in pediatric nephrology in one concise, clinically focused text. International experts provide you with the latest on epidemiology, diagnosis, investigations, management, and prognosis for a full range of pediatric kidney disorders. A full-color, highly visual, meticulously crafted format, makes this material remarkably easy for you to access and apply. Comprehensive Pediatric Nephrology also serves as an ideal resource for board review study for the ABP subspecialty boards in pediatric nephrology. Just the right amount of "need-to-know" basic science coupled with practical clinical guidance for every disorder helps you make efficient, informed decisions. The book provides a much needed update on the genetic origins of pediatric kidney disorders. Chapters about glomerulonephritis, nephrotic syndrome, and tubular disorders provide an orientation in the pathophysiology, differential diagnosis, and treatment of these heterogeneous disease entities. Disease specific chapters include diagnostic work-up, laboratory evaluation, and management of disorders and complications, making this necessary information readily accessible. The prevention and management of pediatric chronic renal failure and its complications are comprehensively covered in many detailed chapters. Four chapters devoted to childhood hypertension offer you insights into an increasingly prevalent condition among pediatric patients so you can treat them more effectively. A chapter on the role of the interventional radiologist in pediatric nephrology keeps you apprised of the latest advances in a key area in the field. The function of complementary and alternative medicine in patients with renal disease is reviewed for the first time in a standard pediatric nephrology textbook. A consistent organization throughout and a full-color layout lets you find diagnostic guidance quickly.

Molecular Pathology in Clinical Practice

Molecular Pathology in Clinical Practice Book
Author : Debra G.B. Leonard
Publisher : Springer Science & Business Media
Release : 2007-11-25
ISBN : 0387332278
Language : En, Es, Fr & De

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Book Description :

This authoritative textbook embodies the current standard in molecular testing for practicing pathologists, and residents and fellows in training. The text is organized into eight sections: genetics, inherited cancers, infectious disease, neoplastic hematopathology, solid tumors, HLA typing, identity testing, and laboratory management. Discussion of each diagnostic test includes its clinical significance, available assays, quality control and lab issues, interpretation, and reasons for testing. Coverage extends to HIV, hepatitis, developmental disorders, bioterrorism, warfare organisms, lymphomas, breast cancer and melanoma, forensics, parentage, and much more. Includes 189 illustrations, 45 in full-color. This textbook is a classic in the making and a must-have reference.

Genetic Association Studies Background Conduct Analysis Interpretation

Genetic Association Studies  Background  Conduct  Analysis  Interpretation Book
Author : Mehmet Tevfik Dorak
Publisher : Garland Science
Release : 2016-09-28
ISBN : 1351806432
Language : En, Es, Fr & De

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Book Description :

Genetic Association Studies is designed for students of public health, epidemiology, and the health sciecnes, covering the main principles of molecular genetics, population genetics, medical genetics, epidemiology and statistics. It presents a balanced view of genetic associations with coverage of candidate gene studies as well as genome-wide association studies. All aspects of a genetic association study are included, from the lab to analysis and interpretation of results, but also bioinformatics approaches to causality assessment. The role of the environment in genetic disease is also highlighted. Genetic Association Studies will enable readers to understand and critique genetic association studies and set them on the way to designing, executing, analyzing, interpreting, and reporting their own.

Difficult Decisions in Clinical Electrophysiology A Case Based Approach An Issue of Cardiac Electrophysiology Clinics E Book

Difficult Decisions in Clinical Electrophysiology   A Case Based Approach  An Issue of Cardiac Electrophysiology Clinics   E Book Book
Author : Mark C. Haigney,Adam Strickberger
Publisher : Elsevier Health Sciences
Release : 2012-10-01
ISBN : 1455745634
Language : En, Es, Fr & De

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Book Description :

This issue consists of 17 case studies, each involving a difficult decision that has to be made in the catheterization laboratory. Reading about the cases and seeing the ECGs will help cardiac electrophysiologists sharpen their clinical skills. The cases are also useful reading for those studying for board certification.