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.
"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.
Skeletal dysplasias are rare, they may be genetic, sporadic or environmentally determined conditions, affecting bone and cartilage growth and development. The genetic mutations continue to exert their influence throughout the life of the affected individual. This unique, full colour atlas features 132 conditions with 2300 images of over 500 patients. It brings together the wide-ranging clinical disciplines involved in pre and postnatal care and diagnosis and presents perinatal images of rare skeletal disorders to include skeletal dysplasias and malformation syndromes on a case-by-case basis. It presents the most up-to-date information on the individual conditions to include the mode of inheritance (autosomal dominant or recessive, or non-genetic), the Mendelian Inheritance in Man number (MIM) for further reference reading, the locus (the chromosome number and position on the affected chromosome), the mutated gene and the affected protein. Each condition has a brief summary including synonyms, incidence, genetics, age at presentation, clinical, prenatal ultrasound and postnatal radiological features, bone histology, prognosis and differential diagnosis. Images are presented with each case illustrating different imaging modalities and with gross and/or histopathology findings. Brief clinical findings are also given where available. It is of great value to all clinicians and technicians working in fetal medicine and neonatal care. It greatly assists in diagnostic accuracy and provides clinicians and affected families with the information needed to make informed management decisions.
A comprehensive reference, this book covers all uses of ultrasound in obstetrics and gynecology. It is written by both radiologists and ob/ gyns, giving each specialty the perspective of the other. The text in cludes coverage of ultrasound diagnosis of prenatal anomalies as well as a complete atlas of hysterosalpinography. This new edition include s chapters on color Doppler sonography in pelvic pain, sonosalpinograp hy, ultrasound mini PACS, telesonography, and reporting systems.
The first edition of Color Atlas of Fetal and Neonatal Histology was an important step in updating the histology texts available to practicing pathologists and pathology trainees who perform fetal autopsy and/or participate in research involving fetal tissues. It was a well-received volume that filled a major gap in pathology references related to normal histology and provided a comprehensive, state-of-the art review of fetal and neonatal histology. While the basics of fetal histology have changed little in the intervening years since publication of the first edition, this successor edition provides new insights and a fresh perspective. This book contains six new chapters including: blood vessels and lymphatics, external genitalia, eye, ear, skin, and maceration changes. Many existing chapters have also been expanded to address a greater breadth of fetal and neonatal histology such as postnatal testis development and the cardiac conduction system. The “Special Considerations” sections were also expanded in many chapters to address particularly problematic issues within individual organ systems. The book reviews the histology of the major organ systems in the fetus and neonate and provides detailed images, up-to-date references, and practical guidelines for identifying tissues across all gestational ages of development. The second edition of Color Atlas of Fetal and Neonatal Histology serves as the ultimate go-to resource for pathologists and researchers dealing with, and interested in, fetal and neonatal histology. It provides a comprehensive summary of the current status of the field with excellent and extensive illustrative examples that help guide the clinical study of fetal and neonatal histology and stimulate investigative efforts with fetal tissue.
Master the effective evaluation, analysis and management of placental-fetal growth restriction (PFGR), reducing the risk of perinatal mortality and morbidity in patients worldwide. Extensively researched by international experts, this manual provides practitioners with a detailed, hands-on approach to the practical 'pearls' for direct patient management. This authoritative volume advises on matters such as the correct evaluation and management of high-risk patients in danger of PFGR through to delivery. Extensive and wide-ranging, this book is an invaluable companion to the developing research interest and clinical applications in PFGR, including developmental outcomes in early childhood. Featuring a critical evaluation of a variety of abnormal conditions, such as fetal hypoxia, which are clearly displayed through extensive illustrations. This essential toolkit ensures that practitioners of all levels can effectively limit the risk of mortality and morbidity, and reach the correct diagnosis, first-time.
The most comprehensive evidence-based guide to both obstetrics and gynecology Aimed at practicing obstetricians, gynecologists, and trainees in the specialty, Evidence-based Obstetrics and Gynecology concentrates on the clinical practice areas of diagnosis, investigation and management. The first section of the book discusses evidence-based medicine methodology in the context of the two specialties. The second and third sections cover all the major conditions in obstetrics and gynecology, with each chapter reviewing the best available evidence for management of the particular condition. The chapters are structured in line with EBM methodology, meaning the cases generate the relevant clinical questions. Evidence-based Obstetrics and Gynecology provides in-depth chapter coverage of abnormal vaginal bleeding; ectopic pregnancy; pelvic pain; lower genital tract infections; contraception and sterilization; breast diseases; urogynecology; endocrinology and infertility; puberty and precocious puberty; cervical dysplasia and HPV; cervical, vaginal, vulvar, uterine, and ovarian cancer; preconception care; prenatal care and diagnosis; drugs and medications in pregnancy; maternal complications; chronic hypertension; diabetes mellitus; thyroid disease; neurologic disease; psychiatric disease; postterm pregnancy; fetal complications; preeclampsia; and more. First book to address evidence-based practice for obstetrics and gynecology combined EBM is a highly relevant approach for this high risk specialty Edited by leading US specialist involved in the evidence-based medicine movement Evidence-Based Obstetrics and Gynecology is an important text for obstetricians and gynecologists in practice and in training, as well as for specialist nurses.
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