Cassidy And Allanson S Management Of Genetic Syndromes

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Cassidy And Allanson S Management Of Genetic Syndromes

Author : John C. Carey
ISBN : 9781119432678
Genre : Science
File Size : 38.11 MB
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The most recent update to one of the most essential references on medical genetics Cassidy and Allanson's Management of Genetic Syndromes, 4th Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes for students, clinicians, and researchers in the field of medical genetics. The 4th edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Each, "expert authored", chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all health care professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Category: Science

Handbook Of Developmental Disabilities

Author : Samuel L. Odom
ISBN : 9781606232484
Genre : Psychology
File Size : 75.48 MB
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This authoritative handbook reviews the breadth of current knowledge about developmental disabilities: neuroscientific and genetic foundations; the impact on health, learning, and behavior; and effective educational and clinical practices. Leading authorities analyze what works in intervening with diverse children and families, from infancy through the school years and the transition to adulthood. Chapters present established and emerging approaches to promoting communication and language abilities, academic skills, positive social relationships, and vocational and independent living skills. Current practices in positive behavior support are discussed, as are strategies for supporting family adaptation and resilience.
Category: Psychology

Inborn Errors Of Development

Author : Charles J. Epstein
ISBN : 9780195145021
Genre : Medical
File Size : 54.49 MB
Format : PDF, ePub
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In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them.
Category: Medical

Signs And Symptoms Of Genetic Conditions

Author : Louanne Hudgins
ISBN : 9780199388691
Genre : Medical
File Size : 20.56 MB
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Connecting an abnormal physical exam to a possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist. Comprising 31 clinical protocols from the world's foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential diagnosis. To maximize clinical utility, this handbook features: · Prominent flow chart diagrams that graphically depict the diagnostic approach · Concise recommendations for laboratory and/or imaging studies · Health supervision and management strategies for the most common conditions associated with each presenting sign or symptom Whether for the student, resident, or seasoned clinician, Signs and Symptoms of Genetic Conditions will serve as a frontline resource for navigating differential diagnosis.
Category: Medical

Genetics Diagnosis Inborn Errors Of Metabolism And Newborn Screening An Update An Issue Of Clinics In Perinatology

Author : Michael J. Gambello
ISBN : 9780323356855
Genre : Medical
File Size : 47.28 MB
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Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.
Category: Medical

Neonatal Dermatology E Book

Author : Lawrence F. Eichenfield
ISBN : 9781437720778
Genre : Medical
File Size : 21.82 MB
Format : PDF
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Comprehensive and heavily illustrated, this is a unique reference for anyone involved in the diagnosis and treatment of dermatologic diseases in infants and newborns. In addition to over 500 superb photographs of normal and abnormal skin conditions, this latest edition also includes new algorithms, new tables, and new care plans. Simple to use text and tables for reference during daily practice. Comprehensive information on infant skin care and toxicology. Differential diagnosis aided by lists, text and images. Assists with work-up and management of common and rare conditions New Care Plan boxes help you to outline your diagnosis and treatment plan. Differential diagnosis algorithms guide you to more effective decision making. New illustrations and photos provide even more visual examples than before.
Category: Medical

Nord Guide To Rare Disorders

Author : National Organization for Rare Disorders
ISBN : 0781730635
Genre : Medical
File Size : 50.41 MB
Format : PDF
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NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Category: Medical

Medical Genetics E Book

Author : Lynn B. Jorde
ISBN : 9780323596534
Genre : Medical
File Size : 36.34 MB
Format : PDF, ePub, Mobi
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Read : 395

Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more – all designed to enhance effective learning and retention of complex material. Discusses current topics including polygenic risk scores and their potential applications for diabetes, cancer, and heart disease, and the latest sequencing technologies and their clinical application in genetic testing and diagnosis. Offers a completely updated discussion of genetic testing modalities and applications. Includes convenient concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment. Features Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated courses. Illustrates key concepts with disease examples to demonstrate relevance to medicine. Provides study questions for self-assessment, as well as 200 additional USMLE-style questions online. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
Category: Medical

Management Of Genetic Syndromes

Author : Suzanne B. Cassidy
ISBN : 9781118210673
Genre : Medical
File Size : 37.45 MB
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The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics
Category: Medical

Congenital Heart Defects

Author : Diego F. Wyszynski
ISBN : 9780195373882
Genre : Medical
File Size : 45.33 MB
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"Covering all aspects of CHDs, the chapters include important discussions on development, epidemiology, genetics, diagnosis, management, and prevention of these birth defects, as well as coverage of public health issues such as environmental risk factors and healthcare costs related to CHDs. This book will be of interest to geneticists, epidemiologists, cardiologists, pediatricians, graduate students, researchers, and others interested in the treatment of individuals' with CHDs." --Book Jacket.
Category: Medical

Merenstein Gardner S Handbook Of Neonatal Intensive Care E Book

Author : Sandra Lee Gardner
ISBN : 9780323570916
Genre : Medical
File Size : 35.49 MB
Format : PDF, ePub
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Co-authored by an interprofessional collaborative team of physicians and nurses, Merenstein & Gardner’s Handbook of Neonatal Intensive Care, 9th Edition is the leading resource for interprofessional, collaborative care of critically ill newborns. It offers comprehensive coverage with a unique interprofessional collaborative approach and a real-world perspective that make it a practical guide for both nurses and physicians. The new ninth edition features a wealth of expanded content on delivery-room care; new evidence-based care "bundles"; palliative care in the NICU; interprofessional collaborative care of parents with depression, grief, and complicated grief; and new pain assessment tools. Updated high-quality references have also been reintegrated into the book, making it easier for clinicians to locate research evidence and standards of care with minimal effort. These additions, along with updates throughout, ensure that clinicians are equipped with the very latest clinical care guidelines and practice recommendations — all in a practical quick-reference format for easy retrieval and review. UNIQUE! Core author team of two physicians and two nurses gives this internationally recognized reference a true interprofessional collaborative approach that is unmatched by any other resource. Consistent organization within clinical chapters include Physiology/Pathophysiology, Etiology, Prevention, Data Collection (History, Signs and Symptoms, and Laboratory Data), Treatment/Intervention, Complications, and Parent Teaching sections. UNIQUE! Color-highlighted point-of-care clinical content makes high-priority clinical content quick and easy to find. UNIQUE! Parent Teaching boxes outline the relevant information to be shared with a patient’s caregivers. Critical Findings boxes outline symptoms and diagnostic findings that require immediate attention to help the provider prioritize assessment data and steps in initial care. Case studies demonstrate how to apply essential content to realistic clinical scenarios for application-based learning. NEW! Updated content throughout reflects the latest evidence-based practice, national and international guidelines, and current protocols for interprofessional collaborative practice in the NICU. NEW! Up-to-date, high-quality references are now reintegrated into the text for quick retrieval, making it easier for clinicians to locate research evidence and standards of care with minimal effort. NEW! Expanded content on delivery-room care includes the impact of staffing on quality of care, delayed cord clamping, resuscitation, and more. NEW! Coverage of the new evidence-based care "bundles" keeps clinicians up to date on new guidelines that have demonstrated improved outcomes of very preterm infants. NEW! Coverage of new pain assessment tools equips NICU providers with essential resources for maintaining patient comfort. NEW! Expanded coverage of palliative care in the NICU provides the tools needed to ensure patient comfort. NEW! Expanded coverage of interprofessional collaborative care of parents with depression, grief, and complicated grief prepares clinicians for this essential area of practice.
Category: Medical

Medical Epigenetics

Author :
ISBN : 9780128243268
Genre : Medical
File Size : 72.89 MB
Format : PDF, ePub, Mobi
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Medical Epigenetics, Second Edition provides a comprehensive analysis of epigenetics in health management, across a broad spectrum of disease categories and specialties, and with a focus on human systems, epigenetic diseases that affect these systems, and evolving modes of epigenetic-based treatment. Here, more than 40 leading researchers examine how each human system is affected by epigenetic maladies, offering an all-in-one resource on medical epigenetics not only for those directly involved with health care, but investigators in life sciences, biotech companies, graduate students, and others who are interested in applied aspects of epigenetics. Incorporating both diagnostic and prognostic epigenetic approaches, this volume also fully supports the application of epigenetics in precision medicine. This second edition of Medical Epigenetics, a volume in the Translational Epigenetics series, has been fully revised to address recent advances in disease epigenetics and role of epigenetics in precision medicine, with all-new chapters on skin cancer epigenetics, network analysis in medical epigenetics, machine learning in epigenetic diseases, and clinical trials of epigenetics drugs. Features chapters from leading researchers and clinicians dedicated to the burgeoning role of epigenetics in medical practice Covers emerging topics, including twin epigenetics, as well as epigenetics of gastrointestinal disease, muscle disorders, endocrine disorders, ocular medicine, pediatric diseases, sports medicine, noncoding RNA therapeutics, pain management and regenerative medicine Organized from system disorders to multi-system disorders that involve epigenetic aberrations Examines the role of epigenetics in precision medicine
Category: Medical

Turner Syndrome

Author : Patricia Y. Fechner
ISBN : 9783030341503
Genre :
File Size : 45.70 MB
Format : PDF, Mobi
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Category:

Medical Genetics

Author : Lynn B. Jorde, PhD
ISBN : 9780323188357
Genre :
File Size : 44.8 MB
Format : PDF, Kindle
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Popular for its highly visual, clinical approach, Medical Genetics delivers an accessible yet thorough understanding of this active and fast-changing field. Key updates in this new edition cover the latest developments which are integrated with clinical practice to emphasize the central principles and how they apply to practice. Photographs, illustrations, and tables, along with boxes containing patient/family vignettes demonstrate clinical relevance and enhance visual impact of the material for easier and more effective learning and retention. Includes access to the complete text and images online at studentconsult.com along with 200 additional USMLE-style questions for self-assessment. Mini-summaries, study questions, suggested reading, and a detailed glossary supplement and reinforce what you learn from the text. More than 230 photographs, illustrations, and tables, along with patient/family vignettes clarify difficult concepts and demonstrate clinical significance. Clinical Commentary Boxes help demonstrate how the hard science of genetics has real applications to everyday patient problems and prepare you for problem-based integrated courses. The latest knowledge and research on gene identification, cancer genetics, gene testing and gene therapy, common disorders, ethical and social issues, and much more so you can keep up with current developments in genetics. Student Consult eBook version included with purchase. This enhanced eBook experience allows access to 200 additional USMLE questions, as well as new materials (outlined above) designed to produce a more rounded learning experience.
Category:

Growth Disorders 2e

Author : Chris Kelnar
ISBN : 9781444113730
Genre : Medical
File Size : 24.9 MB
Format : PDF, Docs
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Linear growth is a biological process of fundamental importance to the physical and psychological make-up of a child and adolescent but which can be subject to a number of interruptions and disorders. The management and treatment of patients with growth disorders constitues a major, and important, part of practice in clinical paediatrics, while in public health terms growth assessment remains one of the most useful indices of health and economic well being in both developed and the developing world. This book approaches growth and its disorders from both a physiological and pathophysiological standpoint. The book outlines in detail the fundamental biological mechanisms of normal and abnormal linear growth, how to assess growth accurately fundamental to the early detection of abnormality and, importantly, how to manage disorders leading to short and tall stature, and disorders of the timing of puberty. Throughout, emphasis is given on achieving a satisfactory outcome for the child and parent by keeping them fully informed as to what is possible from a particular treatment strategy. The result is a wide-ranging and balanced account of this challenging field drawing on the expertise of a team of international specialists from a variety of backgrounds.
Category: Medical

Congenital Anomalies

Author : Stefania Tudorache
ISBN : 9781789231144
Genre : Medical
File Size : 67.97 MB
Format : PDF
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Nowadays, nobody can imagine practicing obstetrics without using obstetrical ultrasound. Working in the prenatal diagnosis field requires dedication, patience, skills, experience, caution, and empathy. The concept of this book was guided by the desire to provide some help to the ultrasound operators. On a daily basis, they are confronted with the challenging task of ruling out or suspecting/confirming the diagnosis of fetal anomalies, either structural or chromosomal. The chapters of this book contain objective and exhaustive updated reviews of the pertinent literature, so that the reader would have a wide reference basis on each subject. Yet, many authors scan the fetus themselves or are directly involved with managing pregnancies with structural malformations or chromosomal anomalies. They kindly shared their personal experience and lessons learned over the years. This book is beneficial for all the professionals working in the prenatal diagnosis.
Category: Medical

Noonan Syndrome And Related Disorders

Author : Martin Zenker
ISBN : 9783805586535
Genre : Medical
File Size : 50.66 MB
Format : PDF, Docs
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In this book, internationally recognized experts review the most important advances regarding the group of human developmental disorders caused by constitutive dysregulation of the Ras-MAPK signalling pathway, including Noonan, cardiofaciocutaneous, LEOPARD and Costello syndromes. A historical overview given by Jacqueline Noonan is followed by chapters dedicated to comprehensive clinical summaries of each condition and up-to-date reviews on associated gene mutations and molecular pathomechanisms. Genotypephenotype correlations are outlined. Further topics include the characterization and underlying mechanisms of common abnormalities in these syndromes such as growth failure, heart defects, and tumor risk. Animal models and the relation to neurofibromatosis type 1 are discussed. The final chapter covers the critical area of treatment including prospects emerging from an improved understanding of the pathophysiology of these disorders. Providing a concise overview of a very rapidly developing field and suggesting ways how to integrate the latest findings from basic molecular research into clinical practice, this book will be of interest to clinical geneticists, pediatricians, pediatric cardiologists, and pediatric endocrinologists, as well as to human molecular geneticists and other basic researchers working on the RAS pathway.
Category: Medical

Obstetrics

Author : Steven G. Gabbe
ISBN : 9781437719352
Genre : Medical
File Size : 44.42 MB
Format : PDF, ePub, Mobi
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Highly readable, well illustrated, and easy to understand, Obstetrics: Normal and Problem Pregnancies remains your go-to choice for authoritative guidance on managing today's obstetric patient. Reflecting the expertise of internationally recognized authorities, this bestselling obstetrics reference has been thoroughly revised to bring you up to date on everything from ultrasound assessment of fetal anatomy and growth, to medical complications in pregnancy, to fetal therapy...and much more! 'An excellent reference for residents and fellows in training alike' Reviewed by: Obstetrics and Prenatal Diagnosis Unit, Landspitali University Hospital/University of Iceland Date: December 2014 Benefit from the knowledge and experience of international experts in obstetrics. Gain a new perspective on a wide range of today's key issues - all evidence-based and easy to read. Stay current with new coverage of fetal origins of adult disease, evidence-based medicine, quality assessment, nutrition, global obstetric practices, and much more. Find the information you need quickly with bolded key statements, additional tables, flow diagrams, and bulleted lists for easy reference. Zero in on "Key Points" in every chapter - now made more useful than ever with the inclusion of related statistics. View new ultrasound nomograms in the Normal Values in Pregnancy appendix. Access the complete contents online, plus exclusive references, tables, and images, at www.expertconsult.com.
Category: Medical

Obstetrics Normal And Problem Pregnancies E Book

Author : Steven G. Gabbe
ISBN : 9781455733958
Genre : Medical
File Size : 89.42 MB
Format : PDF, Kindle
Download : 916
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Highly readable, well illustrated, and easy to understand, Obstetrics: Normal and Problem Pregnancies remains your go-to choice for authoritative guidance on managing today’s obstetric patient. Reflecting the expertise of internationally recognized authorities, this bestselling obstetrics reference has been thoroughly revised to bring you up to date on everything from ultrasound assessment of fetal anatomy and growth, to medical complications in pregnancy, to fetal therapy...and much more! Consult this title on your favorite e-reader with intuitive search tools and adjustable font sizes. Elsevier eBooks provide instant portable access to your entire library, no matter what device you're using or where you're located. Benefit from the knowledge and experience of international experts in obstetrics. Gain a new perspective on a wide range of today’s key issues - all evidence based and easy to read. Stay current with new coverage of fetal origins of adult disease, evidence-based medicine, quality assessment, nutrition, and global obstetric practices. Find the information you need quickly with bolded key statements, additional tables, flow diagrams, and bulleted lists for easy reference. Zero in on "Key Points" in every chapter - now made more useful than ever with the inclusion of related statistics. View new ultrasound nomograms in the Normal Values in Pregnancy appendix.
Category: Medical