Download or read book Smith s Recognizable Patterns of Human Malformation written by Kenneth Lyons Jones and published by . This book was released on 1997 with total page 888 pages. Available in PDF, EPUB and Kindle. Book excerpt: This user-friendly 5th Edition provides concise but complete information on numerous common and rare disorders that cause human malformation. Includes an outline of the salient features of each condition, as well as material on natural history, etiology, and pathogenesis. The text is accompanied by helpful illustrations and reference lists. Organized to allow for easy access to essential information.
Download or read book Recognizable Patterns of Human Malformation written by David W. Smith and published by W.B. Saunders Company. This book was released on 1976 with total page 536 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Cassidy and Allanson s Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth 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 in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth 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. Written by experts, each 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 healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Download or read book Digital Gaming Re imagines the Middle Ages written by Daniel T. Kline and published by Routledge. This book was released on 2013-09-11 with total page 330 pages. Available in PDF, EPUB and Kindle. Book excerpt: Digital gaming’s cultural significance is often minimized much in the same way that the Middle Ages are discounted as the backward and childish precursor to the modern period. Digital Gaming Reimagines the Middle Ages challenges both perceptions by examining how the Middle Ages have persisted into the contemporary world via digital games as well as analyzing how digital gaming translates, adapts, and remediates medieval stories, themes, characters, and tropes in interactive electronic environments. At the same time, the Middle Ages are reinterpreted according to contemporary concerns and conflicts, in all their complexity. Rather than a distinct time in the past, the Middle Ages form a space in which theory and narrative, gaming and textuality, identity and society are remediated and reimagined. Together, the essays demonstrate that while having its roots firmly in narrative traditions, neomedieval gaming—where neomedievalism no longer negotiates with any reality beyond itself and other medievalisms—creates cultural palimpsests, multiply-layered trans-temporal artifacts. Digital Gaming Re-imagines the Middle Ages demonstrates that the medieval is more than just a stockpile of historically static facts but is a living, subversive presence in contemporary culture.
Download or read book Self assessment Questions for Clinical Molecular Genetics written by Haiying Meng and published by Academic Press. This book was released on 2019-05-28 with total page 818 pages. Available in PDF, EPUB and Kindle. Book excerpt: Review Questions of Clinical Molecular Genetics presents a comprehensive study guide for the board and certificate exams presented by the American College of Medical Genetics and Genomics (ACMG) and the American Board of Medical Genetics and Genomics (ABMGG). It provides residents and fellows in genetics and genomics with over 1,000 concise questions, ranging from topics in cystic fibrosis, to genetic counseling, to trinucleotide repeat expansion disorders. It puts key points in the form of questions, thus challenging the reader to retain knowledge. As board and certificate exams require knowledge of new technologies and applications, this book helps users meet that challenge. - Includes over 1,0000 multiple-choice, USMLE style questions to help readers prepare for specialty exams in Clinical Cytogenetics and Clinical Molecular Genetics - Designed to assist clinical molecular genetic fellows, genetic counselors, medical genetic residents and fellows, and molecular pathologist residents in preparing for their certification exam - Assists trainees on how to follow guidelines and put them in practice
Download or read book Gardner and Sutherland s Chromosome Abnormalities and Genetic Counseling written by R. J. McKinlay Gardner and published by Oxford University Press. This book was released on 2018 with total page 729 pages. Available in PDF, EPUB and Kindle. Book excerpt: Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
Download or read book Pediatric Nephrology written by Ellis D. Avner and published by Springer Science & Business Media. This book was released on 2009-08-20 with total page 2059 pages. Available in PDF, EPUB and Kindle. Book excerpt: Here is an extensive update of Pediatric Nephrology, which has become the standard reference text in the field. It is global in perspective and reflects the international group of editors, who are well-recognized experts in pediatric nephrology. Within this text, the development of kidney structure and function is followed by detailed and comprehensive chapters on all childhood kidney diseases.
Download or read book Fetal and Neonatal Lung Development written by Alan H. Jobe and published by Cambridge University Press. This book was released on 2016-04-18 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Lung disease affects more than 600 million people worldwide. While some of these lung diseases have an obvious developmental component, there is growing appreciation that processes and pathways critical for normal lung development are also important for postnatal tissue homeostasis and are dysregulated in lung disease. This book provides an authoritative review of fetal and neonatal lung development and is designed to provide a diverse group of scientists, spanning the basic to clinical research spectrum, with the latest developments on the cellular and molecular mechanisms of normal lung development and injury-repair processes, and how they are dysregulated in disease. The book covers genetics, omics, and systems biology as well as new imaging techniques that are transforming studies of lung development. The reader will learn where the field of lung development has been, where it is presently, and where it is going in order to improve outcomes for patients with common and rare lung diseases.
Download or read book Human Genetics and Genomics written by Bruce R. Korf and published by John Wiley & Sons. This book was released on 2012-11-19 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.
Download or read book Visual Guide to Neonatal Cardiology written by Ernerio T. Alboliras and published by John Wiley & Sons. This book was released on 2018-04-30 with total page 528 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Visual Guide to Neonatal Cardiology is a comprehensive, highly illustrated, reference covering the evaluation, diagnosis and management of cardiac disease in the newborn. Contains over 900 color illustrations, including patient photographs, chest roentgenograms, electrocardiograms, echocardiograms, angiocardiograms, 3D computed tomogramphy, magnetic resonance imaging, pathologic specimens, and other relevant visual aids Discusses the natural history of fetal heart disease and the rationale, indications, technique, and impact of fetal cardiac intervention Reviews the anatomy and physiology of the neonatal cardiovascular system, including differences within the fetal, transitional, neonatal, child and adult circulatory system Highlights key steps for taking a patient history, including detailed discussion of the cardiac examination (inspection, palpation and auscultation of heart sounds and murmurs) Presents over 35 morphologic conditions with sections covering introduction, epidemiology, etiology with accepted or postulated embryogenesis, pathophysiology, clinical presentation, physical examination findings, diagnostic evaluation, management, and prognosis Includes a neonatal formulary reviewing selected medications currently used for treatment of perioperative low cardiac output, congestive heart failure, pulmonary hypertension, sedation, pain and anticoagulation in neonates
Download or read book Avery MacDonald s Neonatology written by James Boardman and published by Lippincott Williams & Wilkins. This book was released on 2021-05-18 with total page 3087 pages. Available in PDF, EPUB and Kindle. Book excerpt: For more than 45 years, Avery & MacDonald’s Neonatology has been the premier text on the pathophysiology and management of both preterm and full-term neonates, trusted by neonatologists, neonatology fellows, pediatricians, neonatal nurse practitioners, and ob/gyn practitioners worldwide. Continuing the tradition of excellence established by Drs. Gordon B. Avery and Mhairi G. MacDonald, this fully revised eighth edition features three new lead editors, numerous new chapters, reorganized and updated content, and an increased focus on global neonatology.
Download or read book Physical Assessment of the Newborn written by Ellen P. Tappero, DNP, RN, NNP-BC and published by Springer Publishing Company. This book was released on 2014-09-01 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: Physical Assessment of the Newborn, 5th Edition, is a comprehensive text with a wealth of detailed information on the assessment of the newborn. This valuable and essential resource illustrates the principles and skills needed to gather assessment data systematically and accurately, and also provides a knowledge base for interpretation of this data. Coverage addresses: gestational assessment, neurologic assessment, neonatal history, assessment of the dysmorphic infant, and systemic evaluation of individual body systems, as well as key information on behavioral and pain assessment, including the use of specific tools with various groups ranging from term to extremely preterm infants. Numerous tables, figures, illustrations, and photos, many of them in full color, are a major strength that enhances the book’s usefulness as a clinical resource. The text is an excellent teaching tool and resource for anyone who performs newborn examinations including nurses, neonatal and pediatric nurse practitioners, nurse-midwives, physicians and therapists. It can also serve as a core text for any program preparing individuals for advanced practice roles in neonatal care. KEY FEATURES: An authoritative and renowned text that comprehensively addresses all key aspects of newborn assessment Provides a well-ordered evaluation of individual body systems. Assists the practitioner in identifying infant state, behavioral clues, and signs of pain, facilitating individualized care. Comprehensively addresses the tremendous range of variation among newborns of different gestational ages. The content is amplified by numerous photos and illustrations, many in full color Includes Power Point slides and an Image Bank
Download or read book Oxford Desk Reference written by Helen V. Firth and published by Oxford University Press, USA. This book was released on 2005 with total page 708 pages. Available in PDF, EPUB and Kindle. Book excerpt: Judith G. Hall is a 2011 Fellow of The Royal Society of Canada. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.
Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Problems of Birth Defects written by T.V.N. Persaud and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 395 pages. Available in PDF, EPUB and Kindle. Book excerpt: Surprisingly, the beginning of a modern approach This collection of articles and commentaries is an to the problems of birth defects is relatively recent integration of information from many disciplines, and dates from Gregg's classical report in 1941 that and presents a comprehensive survey of both recent mothers who contracted rubella during the first tri and previously reported work related to the major mester of pregnancy gave birth to infants with severe aspects of birth defects. In particular, an attempt multiple anomalies. For the first time, an environ has been made to provide a critical assessment of mental agent was found to be teratogenic in man current concepts and to identify areas in need of and was documented in a thoroughly convincing further investigation. manner. Since then, many important discoveries The scope of this volume and space limitations and significant developments have been made, par precluded discussion of and reference to all papers ticularly in the areas of environmental teratogenesis, of relevance or importance: a work of the present hereditary mechanisms, and prenatal diagnosis. nature must necessarily be selective. Some good In recent years, there has been an impressive papers have been left out or given relatively little surge of interest in the causes and prevention of consideration. It is my hope that the list of Further birth defects. Undoubtedly this resulted not only References will be consulted and should compensate from the thalidomide tragedy, but also from the for this lack of completeness.
Download or read book American Academy of Pediatrics Textbook of Pediatric Care written by Jane Meschan Foy and published by . This book was released on 2016-03-31 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive manual of pediatric medicine - completely updated with 75 new chapters and e-book access.
Download or read book Smith s Recognizable Patterns of Human Malformation E Book written by Kenneth Lyons Jones and published by Elsevier Health Sciences. This book was released on 2021-03-02 with total page 1091 pages. Available in PDF, EPUB and Kindle. Book excerpt: Long known as the go-to resource for superbly illustrated, up-to-date coverage in this complex field, Smith's Recognizable Patterns of Human Malformation, 8th Edition, provides a wealth of information on malformation syndromes of environmental and genetic etiology, recognizable disorders of unknown cause, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of disorders. This award-winning reference is indispensable for clinicians in pediatrics, neonatology, family medicine, and genetics, as well as nurse practitioners and physician assistants—anyone who needs a complete, authoritative, and easy-to-read guide to help accurately diagnose human disorders, establish prognoses, and provide appropriate management and genetic counseling. - Includes an easy-to-read description of each condition: Common and occasional abnormalities, natural history, etiology, and references. Opposing pages contain descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality. - Contains new coverage of Hennekam Syndrome, Parkes Weber Syndrome, KBG Syndrome, Kosaki Overgrowth, Malan Syndrome, and much more. - Arranges disorders based on similarity in overall features, so you can easily navigate to the correct section and compare/contrast similar disorders. - Features more than 1,500 full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones, and others from multiple international collaborators. - Provides summarized information in order to understand basic mechanisms of morphogenesis and birth defects and key concepts in genetics and genetic testing—necessary information for counseling patients and parents. - 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.
