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Genetic Steroid Disorders
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 ...
Genetic Steroid Disorders
Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21OHD) is a disorder of adrenal steroidogenesis, which causes virilization of external genitalia in females affected with the severe form of the disease. However, genital ambiguity is preventable with prenatal treatment with dexamethasone during the first trimester. While prenatal treatment has remained largely unchanged since its institution, prenatal diagnosis of CAH has witnessed a number of advancements in the past 50 years. The first successful prenatal diagnosis utilized hormonal measurements of the amniotic fluid. Elevated levels of 17α-hydroxyprogesterone in the amniotic fluid became diagnostic for a fetus affe...
Integrating Omics Data
In most modern biomedical research projects, application of high-throughput genomic, proteomic, and transcriptomic experiments has gradually become an inevitable component. Popular technologies include microarray, next generation sequencing, mass spectrometry and proteomics assays. As the technologies have become mature and the price affordable, omics data are rapidly generated, and the problem of information integration and modeling of multi-lab and/or multi-omics data is becoming a growing one in the bioinformatics field. This book provides comprehensive coverage of these topics and will have a long-lasting impact on this evolving subject. Each chapter, written by a leader in the field, introduces state-of-the-art methods to handle information integration, experimental data, and database problems of omics data.
Colitis
This revised and updated second edition explains how to analyze endoscopic mucosal biopsies of the ileum and colon. As in the first edition, the diagnosis and follow up of colitis in general and inflammatory bowel diseases in particular is covered and this edition also includes new chapters on ileitis and optimal biopsy procedures. The basic lesions are described using multiple drawings together with an explanatory text and endoscopic and histological photographs. A review of various differential diagnostic issues and types of colitis is also included. Colitis: A Practical Approach to Colon and Ileum Biopsy Interpretation is aimed at general pathologists and pathologists in training and also gastroenterologists to help them understand how a precise diagnosis can be reached.
Genetic Steroid Disorders
Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive genetic disorders that arise from defective steroidogenesis. The 21-hydroxylase deficiency (21OHD) is the most common form of CAH, accounting for more than 90% of cases. It is the most common disorder of sexual development (DSD) in females. The gene is encoded by CYP21A2, which is located on the short arm of chromosome 6 (6p21.3). The activity of the enzyme 21-hydroxylase, encoded by the CYP21A2 gene, is deficient, leading to an accumulation of 17-hydroxyprogesterone (17-OHP) and subsequent elevation of androgens. The three forms of 21OHD are the salt-wasting form, simple-virilizing form, and non-classical form. Th...
Bayesian Theory and Applications
This volume guides the reader along a statistical journey that begins with the basic structure of Bayesian theory, and then provides details on most of the past and present advances in this field.
Consultative Hemostasis and Thrombosis E-Book
A unique clinical focus makes Consultative Hemostasis and Thrombosis, 3rd Edition your go-to guide for quick, practical answers on managing the full range of bleeding and clotting disorders. Emphasizing real-world problems and solutions, Dr. Craig S. Kitchens, Dr. Barbara A. Konkle, and Dr. Craig M. Kessler provide all the clinical guidance you need to make optimal decisions on behalf of your patients and promote the best possible outcomes. Consult this title on your favorite e-reader with intuitive search tools and adjustable font sizes. Elsevier eBooks provide instant portable access to your entire library, no matter what device you're using or where you're located. Efficiently look up con...
Everyone's Universe
Grice provides strategies and resources to remove barriers and make astronomysessions welcoming and accessible for people of all abilities.
OECD Framework for Regulatory Policy Evaluation
This publication provides countries with a Framework for Regulatory Policy Evaluation, an overview of evaluation practices in OECD countries and concrete examples.
The Meaning of Fossils
"An absorbing history of changing views of what fossils are and how they contribute to an understanding of the history of the earth. Rudwick makes ample use of primary sources ranging in time from the first book with illustrations of fossils (1565) to O.C. Marsh's study of horse evolution in the 1870s. He documents the first attempts to collect groups of fossils, determine whether they were the remains of organisms, relate the fossils to their surrounding rock strata, and integrate fossil evidence into the concept of evolution"--Back cover.
