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Cassidy and Allanson's Management of Genetic Syndromes

Cassidy and Allanson's Management of Genetic Syndromes
Author: John C. Carey
Publisher: John Wiley & Sons
Total Pages: 1104
Release: 2021-01-27
Genre: Science
ISBN: 1119432677

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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.


Fetal MRI

Fetal MRI
Author: Daniela Prayer
Publisher: Springer Science & Business Media
Total Pages: 531
Release: 2011-02-15
Genre: Medical
ISBN: 3540732713

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This is the most comprehensive book to be written on the subject of fetal MRI. It provides a practical hands-on approach to the use of state-of-the-art MRI techniques and the optimization of sequences. Fetal pathological conditions and methods of prenatal MRI diagnosis are discussed by organ system, and the available literature is reviewed. Interpretation of findings and potential artifacts are thoroughly considered with the aid of numerous high-quality illustrations. In addition, the implications of fetal MRI are explored from the medico-legal and ethical points of view. This book will serve as a detailed resource for radiologists, obstetricians, neonatologists, geneticists, and any practitioner wanting to gain an in-depth understanding of fetal MRI technology and applications. In addition, it will provide a reference source for technologists, researchers, students, and those who are implementing a fetal MRI service in their own facility.


Ultrasound of Congenital Fetal Anomalies

Ultrasound of Congenital Fetal Anomalies
Author: Dario Paladini
Publisher: CRC Press
Total Pages: 515
Release: 2018-03-29
Genre: Medical
ISBN: 1466598972

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The most frequently asked questions that confront the fetal medicine trainee/expert on a daily basis are “Is the finding real or merely an artifact?” and “Is the diagnosis correct?”. However, to be able to find the description of an abnormal ultrasound finding in a textbook, one generally has to search by the definite diagnosis, which has not been done as yet. This uneasy feeling was the first factor that directed the layout of Ultrasound of Congenital Fetal Anomalies: Differential Diagnosis and Prognostic Indicators, Second Edition. Copiously illustrated, the book displays fetal anomalies by scanning view and descriptions of all major ultrasound planes, detailing what can be considered a normal view and what cannot. See What’s New in the Second Edition: Early detection of fetal anomalies (1214 weeks) Ultrasound in fetal infections and in twins The nuchal translucency issue, the newest intracranial translucency as well as the range of congenital anomalies detectable at this gestational age Expanded coverage of heart anomalies, including arrhythmias and early fetal echocardiography The author’s mission continues to be to provide guidance on how to quickly recognize and diagnose congenital fetal anomalies, beginning at the beginning with ultrasound sigh all the way through to final diagnosis.


Genetic Instabilities and Neurological Diseases

Genetic Instabilities and Neurological Diseases
Author: Robert D. Wells
Publisher: Elsevier
Total Pages: 783
Release: 2011-10-13
Genre: Science
ISBN: 0080463770

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Genetic Instabilities and Neurological Diseases covers DNA repeat instability and neurological disorders, covering molecular mechanisms of repeat expansion, pathogenic mechanisms, clinical phenotype, parental gender effects, genotype-phenotype correlation, and diagnostic applications of the molecular data. This updated edition provides updates of these repeat expansion mutations, including the addition of many new chapters, and old chapters rewritten as extensions of the previous edition. This book is an invaluable reference source for neuroscientists, geneticists, neurologists, molecular biologists, genetic counsellors and students. Contributions by most of the principal research teams in the area, edited by world-renowned leaders Lays the background for future investigations on related diseases


Management of Genetic Syndromes

Management of Genetic Syndromes
Author: Suzanne B. Cassidy
Publisher: John Wiley & Sons
Total Pages: 1678
Release: 2011-09-20
Genre: Medical
ISBN: 1118210670

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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


Perinatal Neuropathology

Perinatal Neuropathology
Author: Mirna Lechpammer
Publisher:
Total Pages:
Release: 2021
Genre: Nervous system
ISBN: 9781316671863

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"1 Clinical history, clinical correlations with placental pathology and prematurity The initial steps in the process of perinatal nervous system evaluation, namely the planning of the optimal approach and choice of samples to be obtained, are driven by the clinical context. Of key importance are the following data: a. Gestational age at time of demise (if stillborn); or gestational age and postnatal age (if liveborn), for comparison with normative standards of development (see Appendix); b. State of maternal health (age, parity, pre-existing medical conditions or ones appearing during gestation or around the time of delivery, exposure to medications/toxins/infections), and of health of siblings or other family members: - Concerns for inherited (i.e., genetic) conditions, metabolic disorders, congenital infections, etc., may indicate the need for special testing; c. Details of prenatal course, including any imaging, amniocentesis, or monitoring: - Prenatal imaging modalities most commonly consist of transabdominal ultrasonography, generally done at the time of the first prenatal visit (to confirm pregnancy) or more usually in the mid-second-trimester for detection of fetal or placental anomalies"--


Volpe's Neurology of the Newborn E-Book

Volpe's Neurology of the Newborn E-Book
Author: Joseph J. Volpe
Publisher: Elsevier Health Sciences
Total Pages: 1526
Release: 2017-09-13
Genre: Medical
ISBN: 0323508650

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A clear, engaging writing style, hundreds of full-color images, and new information throughout make Volpe’s Neurology of the Newborn, 6th Edition, an indispensable resource for those who provide care for neonates with neurological conditions. World authority Dr. Joseph Volpe, along with Dr. Terrie E. Inder and other distinguished editors, continue the unparalleled clarity and guidance you’ve come to expect from the leading reference in the field – keeping you up to date with today’s latest advances in diagnosis and management, as well as the many scientific and technological advances that are revolutionizing neonatal neurology. Features a brand new, full-color design with hundreds of new figures, tables, algorithms, and micrographs. Includes two entirely new chapters: Neurodevelopmental Follow-Up and Stroke in the Newborn; a new section on Neonatal Seizures; and an extensively expanded section on Hypoxic-Ischemia and Other Disorders. Showcases the experience and knowledge of a new editorial team, led by Dr. Joseph Volpe and Dr. Terrie E. Inder, Chair of the Department of Pediatric Newborn Medicine at Brigham and Women’s Hospital, all of whom bring a wealth of insight to this classic text. Offers comprehensive updates from cover to cover to reflect all of the latest information regarding the development of the neural tube; prosencephalic development; congenital hydrocephalus; cerebellar hemorrhage; neuromuscular disorders and genetic testing; and much more. Uses an improved organization to enhance navigation.


Pediatric Neurology, Part I

Pediatric Neurology, Part I
Author: Olivier Dulac
Publisher: Newnes
Total Pages: 893
Release: 2013-04-24
Genre: Medical
ISBN: 0444626980

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The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology – not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults. Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research. Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed – brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology International list of contributors including the leading workers in the field Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care


Pediatric Neuroimaging

Pediatric Neuroimaging
Author: A. James Barkovich
Publisher: Lippincott Williams & Wilkins
Total Pages: 3865
Release: 2012-02-20
Genre: Medical
ISBN: 1451153864

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The thoroughly updated Fifth Edition of Pediatric Neuroimaging is a highly illustrated text-reference that describes and illustrates the full range of pediatric disorders diagnosable by modern neuroimaging. Covering the diagnosis of brain, spinal, and head and neck disorders in the pediatric patient, the text is rooted in the principle that the proper interpretation of studies requires the acquisition of high-quality images and an understanding of the basic concepts of neuroembryology, normal development, and pathophysiology. Much coverage is given to the disorders seen in everyday practice. The emphasis is on CT and MRI, which are the optimal imaging modalities in children. The first two chapters describe useful imaging techniques in this patient population and the imaging manifestations of normal development, to distinguish that from manifestations of disease. The final ten chapters of the book are divided by groups of diseases, with numerous drawings and images that illuminate the underlying pathologic and embryologic/genetic bases of each disorder. The goal is provide a basic approach to groups of diseases, then offer detailed information about the clinical manifestations, underlying biochemistry, molecular biology, genetics and/or pathology of specific disorders. The book incorporates the essential concepts for obtaining good images and understanding normal development, which helps the reader to distinguish normal developmental changes from disease


Imaging of Fetal Brain and Spine

Imaging of Fetal Brain and Spine
Author: B. S. Rama Murthy
Publisher: Springer
Total Pages: 330
Release: 2019-06-29
Genre: Medical
ISBN: 9811358443

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This book systematically covers the anatomy and pathology of the fetal brain and spine. It features a veritable treasure trove of ultrasound images illustrating every common finding, as well as rare lesions that are encountered in clinical practice. Wherever possible, it also includes 3D ultrasound and fetal MRI correlations.