Download or read book Abnormal Skeletal Phenotypes written by Alessandro Castriota-Scanderbeg and published by Springer Science & Business Media. This book was released on 2006-03-20 with total page 970 pages. Available in PDF, EPUB and Kindle. Book excerpt: Taking a symptom-oriented approach, this book focuses on the radiographic changes of malformation syndromes and skeletal dysplasias. Its clear structure makes it an essential, practical guide for radiologists, geneticists, and pediatricians.
Download or read book Bone Dysplasias written by Jürgen W. Spranger and published by Oxford University Press. This book was released on 2018-10-25 with total page 976 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs "Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.
Download or read book Connective Tissue and Its Heritable Disorders written by Peter M. Royce and published by John Wiley & Sons. This book was released on 2003-04-14 with total page 1201 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Second Edition of Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects is the definitive reference text in its field, with over 40% more pages on the nature, diagnosis, and treatment of disease than its predecessor. Collecting new research on disorders detailed in the first edition as well as on those previously excluded, editors Peter Royce and Beat Steinmann provide the most up-to-date clinical and scientific information for medical specialists treating affected individuals. Features of this revised and updated volume include detailed reviews of the clinical diagnosis, mode of inheritance, risk of recurrence, and prenatal diagnosis of each inherited connective tissue disorder; a thorough description of the morphology of connective tissues; a completely updated and revised section on the biology of the extracellular matrix; and the addition of syndromes such as craniosyntosis, and disorders of sulfate metabolism.
Download or read book Bone Dysplasias written by Jürgen W. Spranger and published by Oxford University Press, USA. This book was released on 2002 with total page 306 pages. Available in PDF, EPUB and Kindle. Book excerpt: Many advances have been made in understanding skeletal dysplasias since the first edition of this classic text appeared in 1974. The diagnostic process has been refined, many new disorders have been recognized, and the molecular aspects in many cases have been elucidated. The second edition has been completely renovated, with the help of two new co-authors, to incorporate these advances. The book's format is similar to the original but the number of conditions covered has almost doubled and molecular information has been added wherever available. The number of figures has been increased to the limit of economic wisdom. As in the first edition, the illustrations have been selected and sequenced to illustrate both the degree of variability of a given disorder and its changs with age. This book is designed for physicians involved in the evaluation and treatment of patients with skeletal dysplasias, including radiologists, medical geneticists, pediatricians, and orthopedic surgeons. Its main goal is to assist in the diagnosis of specific conditions and the care of affected individuals. Though mutations of specific genes can produce dysplasias with very different phenotypes and prognoses, the primarily clinical aim of this book dictated a phenotypic classification in general, with compromises on etiologic grounds where necessary. Since the attempt to diagnose a skeletal dysplasia from single signs, alone or in cominations, is fraught with errors, the authors focus on basic patterns of skeletal abnormalities.
Download or read book Pathology of Bone and Joint Disorders Print and Online Bundle written by Edward F. McCarthy and published by Cambridge University Press. This book was released on 2014-11-20 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fully updated new edition covering all aspects of bone and joint diseases in one easily readable volume. Color illustrations throughout.
Download or read book Radiology of Syndromes Metabolic Disorders and Skeletal Dysplasias written by Hooshang Taybi and published by Mosby Incorporated. This book was released on 1996 with total page 1135 pages. Available in PDF, EPUB and Kindle. Book excerpt: Intended for the practitioner and student, this clinical radiologic reference is one of the most widely used by pediatric radiologists today. This edition features an expanded Gamuts section, which presents differential diagnoses of various clinical and radiologic symptoms and signs. Genetic information on syndromes and disorders is also included.
Download or read book Spine Phenotypes written by Dino Samartzis and published by Academic Press. This book was released on 2022-07-08 with total page 418 pages. Available in PDF, EPUB and Kindle. Book excerpt: The era of big data and personalized spine care has arrived. Within that, imaging and clinical phenotypes are key in establishing personalized algorithms for patient care. This is particularly important in developing novel diagnostics and therapeutics as well as predicting outcomes and establishing preventative measures for various spinal disorders. Spine Phenotypes is a comprehensive resource that outlines phenotype descriptions, their imaging measurements and classifications, and provides an in-depth discussion regarding spine pathology and its clinical relevance. Multiauthored, with multidisciplinary contributions from world leaders in the field of imaging, spine research, and clinical practice, each chapter is rich in visual depiction of imaging phenotypes, providing examples of some established phenotypic measurements with a range of normal and pathologic images and their clinical implications. Spine Phenotypes will be a first of its kind reference for spine researchers, clinicians, and industry. Book chapters devoted to specific imaging phenotypes with discussion of their clinical correlates Imaging phenotypes provided with examples of established phenotypic measurements and a range of normal and pathologic images Multiauthor, multidisciplinary contributions comprising world leaders in the field of spine imaging, research, and clinical practice
Download or read book Sclerosing Bone Dysplasias written by P. Beighton and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 193 pages. Available in PDF, EPUB and Kindle. Book excerpt: Much confusion exists in the accurate identification and classification of the many disorders in infancy which affect the skeleton by producing sclerosing lesions throughout the entire skeleton or in selected areas. A scholarly effort to bring order into this confusing field must be welcomed. Professors Beighton and Cremin have skillfully defined the problem and concisely yet thoroughly have identified the various sclerosing dysplasias. They bring to this task a wealth of clinical experience in their many years in the Departments of Radiology at the University of Cape Town Medical School and the Groote Schuur and Red Cross Children's Hospitals in Cape Town, South Africa. The authors also have had available data from the University of Cape Town Skeletal Dysplasia Registry. Professors Beighton and Cremin have used as a basis for their treatise the Paris Nomenclature (the modified version of 1977). This monograph is a felicitous combination of a working atlas and a scholarly exposition of the various sclerosing bone dysplasias, considering in detail eighteen major entities adopted from the Paris classification. Other disorders which present with osteosclerosis are also described. These include Caffey disease, oculodento-osseous dysplasia, central osteosclerosis with bamboo hair, fluorosis, osteosclerosis associated with renal disease and mastocytosis.
Download or read book Human Malformations and Related Anomalies written by Roger E. Stevenson and published by Oxford University Press. This book was released on 2005-10-27 with total page 1510 pages. Available in PDF, EPUB and Kindle. Book excerpt: This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. When known, the molecular or other pathogenetic basis for the malformation is given. Most anomalies are illustrated by photographs or drawings. Specific malformations are linked to syndromes through the extensive use of differential diagnosis tables. Over a decade has passed since the first edition of this book was published, and the revised edition fully incorporates the advances made in the field during the intervening years.. It reflects new understanding of human developmental biology that has emerged from molecular, cytogenetic, and biochemical studies; new observations by clinicians as well as enhanced diagnostic and prevention capacities; and more accurate and comprehensive epidemiology. By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. Stevenson and Hall and their contributors have managed to update the book while reducing its size to that of a single volume. All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.
Download or read book Oxford Textbook of Clinical and Biochemical Disorders of the Skeleton written by Roger Smith and published by Oxford University Press. This book was released on 2016-01-05 with total page 449 pages. Available in PDF, EPUB and Kindle. Book excerpt: Oxford Textbook of Clinical and Biochemical Disorders of the Skeleton 2 is a definitive reference providing comprehensive coverage of common polygenic and rare monogenic disorders, emphasizing new advances in bone cell biology and human skeletal disease. With an up-to-date account of common and rare metabolic disorders of the skeleton, including their causes, clinical aspects, and treatment, this book offers the reader clarity in the complex field of the molecular biology of the skeleton. Topics covered include bone biology and investigation, osteoporosis, osteomalacia and rickets, parathyroid bone disease, Paget disease, and the effects of malignancy on the skeleton. Newer metabolic bone disorders are also included, along with chapters on osteogenesis imperfecta, skeletal dysplasias, osteopetrosis and osteosclerosis, Marfan syndrome, Ehlers-Danlos syndrome, fibrous dysplasia, and ectopic mineralisation. Essential for postgraduates and clinicians, this accessible and highly illustrated book provides a clear authoritative account of metabolic bone diseases in their widest sense. Bringing together considerable advances in the field, it discusses molecular causes and personal experiences of all disorders, ensuring a comprehensive and didactic reference. Enriched with over 100 new illustrations and revised chapters to reflect a rapidly developing field, this second edition will be indispensable for those who look after patients with metabolic bone disease, including general physicians, rheumatologists, endocrinologists, and orthopaedic surgeons, along with paediatricians and geneticists. This print edition of The Oxford Textbook of Clinical and Biochemical Disorders of the Skeleton comes with a year's access to the online version on Oxford Medicine Online. By activating your unique access code, you can read and annotate the full text online, follow links from the references to primary research materials, and view, enlarge and download all the figures and tables. Oxford Medicine Online is mobile optimized for access when and where you need it.
Download or read book Behavioural Phenotypes written by Gregory O'Brien and published by Cambridge University Press. This book was released on 1995 with total page 236 pages. Available in PDF, EPUB and Kindle. Book excerpt: A timely distillation of current thinking on the presentation of behavioural disorders and their origins.
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 NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Essentials of Anesthesia for Infants and Neonates written by Mary Ellen McCann and published by Cambridge University Press. This book was released on 2018-02-22 with total page 465 pages. Available in PDF, EPUB and Kindle. Book excerpt: A practical, comprehensive guide to the special needs of infants and neonates undergoing anesthesia.
Download or read book Fetal Medicine written by Zarko Alfirevic and published by Cambridge University Press. This book was released on 2023-05-31 with total page 521 pages. Available in PDF, EPUB and Kindle. Book excerpt: Evidence-based clinical guidelines are designed to provide systematically developed recommendations to assist clinicians and their patients in making decisions about appropriate treatment for specific conditions. While these may often be widely available, nowhere are they collated into a single, practical text. This book will fill this need for those working in maternal-fetal medicine, comprehensively covering the conditions, diagnostic and therapeutic challenges faced by those working in fetal care. Presented in highly illustrated, algorithm format with fetograms and autopsy correlations included, this book will aid in the diagnosis, investigation, counselling and therapeutic options for the management of fetal abnormalities and disorders.
Download or read book Atlas of Genodermatoses written by Ruggero Caputo and published by CRC Press. This book was released on 2005-12-12 with total page 448 pages. Available in PDF, EPUB and Kindle. Book excerpt: A lavishly illustrated guide to almost 200 inherited diseases of the skin, hair, and nails. Each entry includes synonyms, age of onset, clinical findings, complications, course, laboratory findings, diagnosis, therapy, and key references, adding up to far more than just a collection of photographs. In addition to being a clinical primer, this is also a work of scientific research and contains the first printed description of two new syndromes. The fast-moving world of genetic research means that the latest genetic correlations, included here, render previous texts out of date. All specialists in Dermatology and Pediatrics should find this an invaluable front-line resource in the clinic.
Download or read book Genetic Steroid Disorders written by Maria I. New and published by Academic Press. This book was released on 2023-06-14 with total page 470 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on "Gonadotropins, Obesity and Bone" and new research on non-invasive prenatal diagnosis with cell-free DNA. Chapters are thoroughly updated covering steroid disorders, the genetic bases for the disorder and case presentations, This definitive reference belongs in every medical library! Presents a comprehensive, translational look at all aspects of genetic steroid disorders in one reference work Provides a common language for endocrinologists, geneticists, molecular pathologists, and genetic counselors to discuss and diagnose genetic steroid disorders Saves clinicians and researchers time in quickly accessing the very latest details on genetic tests and diagnoses as opposed to searching through thousands of journal articles Highlights significant discoveries with clinical relevance, presenting insight into which medications to use based on the genetic makeup of a patient Teaches the best strategies and most effective use of genetic information in the patient counseling setting
