Download or read book Bone Dysplasias of Infancy written by B. J. Cremin and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 236 pages. Available in PDF, EPUB and Kindle. Book excerpt: The tremendous expansion of medical knowledge during the last few decades, together with the introduction of many new diagnostic techniques, has demanded such a degree of specialisation that no single individual can be conversant with all the information available. More and more emphasis, therefore, has been placed on the importance of teamwork and close collaboration between associated disciplines. The bone dysplasias of infancy represent a classical example of this concept. Only a few years ago these heritable conditions were divided into a relatively small number of entities, for many of which "atypical variants" were accepted. More recent studies have resulted in appreciation and early recognition of a large number of these disorders, thanks to co-operation between paediatricians, radiologists, geneticists and biochemists. Not only maya reasonably accurate prognosis be offered for the affected child in many instances, but, almost of greater value, genetic counselling concerning the chance of subsequent offspring being similarly affected has become available to parents. Most radiologists have little opportunity of becoming familiar with this rapidly widening field of diagnosis, so that the occasional case which may be encountered is likely to engender diagnostic difficulty. This Atlas should facilitate greatly the solution of the problem. It has been prepared by Professor CREMIN, an outstanding paediatric radiologist whose work has been known and admired by me for many years, in close collaboration with his colleague Professor BEIGHTON, a geneticist of great distinction.
Download or read book Pediatric Bone written by Francis H. Glorieux and published by Academic Press. This book was released on 2011-09-28 with total page 885 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pediatric osteology, a medical specialty that has come of age, has contributed to the understanding of adult bone diseases as well. This second edition reference updates the 2003 edition with more emphasis on management as well as new and revised contributions. Thirty chapters present basic information regarding bone development, tools and techniques for evaluation (including a new chapter on radiographic imaging), and the specifics of various diseases. The three editors are affiliated as follows: Francis H. Glorieux (McGill U., Canada), John M. Pettifor (Chir Hani Baragwanath Hospital, South Africa), and Harald Juppner (Harvard Medical School, US). Academic Press is an imprint of Elsevier. Annotation ©2012 Book News, Inc., Portland, OR (booknews.com).
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 Questions from NeoReviews written by Henry C. Lee and published by . This book was released on 2020 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Enhance your knowledge of neonatal-perinatal medicine and/or study for Neonatal-Perinatal Medicine board certification or recertification with this new study guide from the editors of NeoReviews. This new guide includes more than 1,200 questions previously published in NeoReviews from January 2007 to December 2017. Each question is followed by a short explanation of the correct answer with references, including the original article. Chapters include Cardiology Dermatology Endocrinology ENT and Ophthalmology Fluids, Electrolytes, Nutrition Gastrointestinal Genetics and Inborn Errors of Metabolism Hematology/Oncology Immunology Infectious Diseases Maternal-Fetal Medicine Neonatal Resuscitation Neurology Renal Respiratory Statistics, Research, Health Services, and Ethics
Download or read book Acetabular Dysplasia written by Ulrich H. Weil and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 319 pages. Available in PDF, EPUB and Kindle. Book excerpt: Readers of the first volume of Progress in Orthopaedic Surgery may remember the introductory remarks of Drs. Wagner and Hungerford. It is the intention of the editors of this publication to familiarize English - speaking orthopaedists with articles published in the European literature which, because of language barriers, would otherwise be inaccessible to them. Most articles in this second volume also are translations of papers originally printed in Der Orthopiide. The purpose of this German medical journal is to disseminate the newest experiences of orthopaedic problems in a form that is of particular value to the practising orthopaedic surgeon. In 1973 eight articles were published on acetabular dysplasia. In his fore word to this issue Dr. Wagner stated some of the reasons why such an indepth study was deemed necessary. He was of the opinion that the shallowness and increase in acclivity of the acetabulum was of such central importance in the development and treatment of hip dysplasias that a volume dealing with this subject was fully justified. Another reason for this collection of papers was the advances made in correcting the results of a dysplastic acetabulum by surgical means and thereby improving hip joint function in later years, or at least pre venting its early deterioration.
Download or read book Musculoskeletal Diseases 2021 2024 written by Juerg Hodler and published by Springer Nature. This book was released on 2021 with total page 293 pages. Available in PDF, EPUB and Kindle. Book excerpt: This open access book focuses on imaging of the musculoskeletal diseases. Over the last few years, there have been considerable advances in this area, driven by clinical as well as technological developments. The authors are all internationally renowned experts in their field. They are also excellent teachers, and provide didactically outstanding chapters. The book is disease-oriented and covers all relevant imaging modalities, with particular emphasis on magnetic resonance imaging. Important aspects of pediatric imaging are also included. IDKD books are completely re-written every four years. As a result, they offer a comprehensive review of the state of the art in imaging. The book is clearly structured with learning objectives, abstracts, subheadings, tables and take-home points, supported by design elements to help readers easily navigate through the text. As an IDKD book, it is particularly valuable for general radiologists, radiology residents, and interventional radiologists who want to update their diagnostic knowledge, and for clinicians interested in imaging as it relates to their specialty.
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 Taybi and Lachman s Radiology of Syndromes Metabolic Disorders and Skeletal Dysplasias written by Ralph S. Lachman and published by Mosby. This book was released on 2007 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Revised to reflect the latest advances, the 5th edition of this book: brings you new and expanded coverage of CT, MRI, and ultrasonographic manifestations; provides several illustrative examples of the evolution of a syndrome from infancy to adult life; includes more than 100 new skeletal dysplasias, covering everything from their frequency and clinical and radiological manifestations ... to modes of inheritance and differential diagnosis; presents genetic information on syndromes and disorders, while also covering a number of non-genetic entities; features an expanded Chromosome disorders section that includes guidance on when to test for these conditions; includes a section on Gamuts that helps you look up conditions based on individual traits; and offers an updated Brachydactyly section for the latest guidance in addressing these isolated disorders." "Short, concise descriptions of entities help you glean the most information in the least time, and an alphabetical organization expedites access to the specific information you need for common and uncommon conditions."--Résumé de l'éditeur.
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 2000 CDC Growth Charts for the United States written by and published by . This book was released on 2002 with total page 208 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genetics of Bone Biology and Skeletal Disease written by Rajesh V. Thakker and published by Academic Press. This book was released on 2017-10-31 with total page 878 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder
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 The Bedside Dysmorphologist written by William Reardon and published by Oxford University Press, USA. This book was released on 2015-10-14 with total page 409 pages. Available in PDF, EPUB and Kindle. Book excerpt: Dysmorphology is the study of congenital malformations and is one of the core areas of clinical genetics. Often the first professional seeing these birth defects is a pediatrician, who notices, for example, that the ears may be rather low set. While in itself minor, this physical sign may indicate a malformation that will be accompanied by other serious genetic disorders. Does the sign, or does it not, indicate an underlying syndrome? That question is often quite difficult to answer, and the texts that may aid in diagnosis are highly sophisticated and rather daunting for the practicing pediatrician. The aim of Reardon's new text is to provide a practical solution to this situation.
Download or read book Pediatric Orthopedics written by Amr Abdelgawad and published by Springer Science & Business Media. This book was released on 2013-09-24 with total page 589 pages. Available in PDF, EPUB and Kindle. Book excerpt: Topics in pediatric orthopedics routinely surface in general pediatrics and primary care, whether on board exams or in clinical practice. From birth injuries to musculoskeletal infections, there are many conditions and presenting complaints that must be addressed by the primary care physician or pediatrician. This concise and targeted handbook contains just the need to know conditions, injuries, and diseases necessary for residents and even seasoned clinicians to brush up on pediatric orthopedic topics with ease. Information is contained within themed chapters (like neuromuscular diseases or musculoskeletal infections) and also by anatomical region (hip, knee foot, spine, etc.). This book gives readers the basic knowledge to be able to identify common orthopedic conditions, indications to either treat these conditions or refer patient to an orthopedist, and covers the entire required curriculum needed to answer musculoskeletal questions on the pediatrics board exam.
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 Calcium and Bone Disorders in Children and Adolescents written by J. Allgrove and published by Karger Medical and Scientific Publishers. This book was released on 2015-06-11 with total page 434 pages. Available in PDF, EPUB and Kindle. Book excerpt: There has been a rapid expansion of knowledge in the field of paediatric calcium and bone disorders over the past twenty years. Advances have been made in the underlying genetic basis for many conditions in conjunction with progress in bone density and geometry imaging and the development of new treatment options. The 2nd revised edition of ‘Calcium and Bone Disorders in Children and Adolescents’ presents up-to-date information on many aspects included in the 1st edition such as the physiology, pathology, diagnosis and management of numerous conditions including a chapter of case histories illustrating clinical aspects. New chapters on skeletal dysplasias, the genetics of osteoporosis, radiological imaging of bone and a practical approach to a child with recurrent fractures are included. Providing a comprehensive update, this book is a useful clinical resource for paediatricians and specialists in endocrinology, metabolic bone disease, nephrology, rheumatology, radiology, orthopaedics and clinical genetics who may be faced with a child with a calcium and/or bone disorder.
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.
