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Genetic Steroid Disorders
This is a comprehensive book addressing steroid disorders from hormonal, genetic, psychological, and surgical perspectives. It is meant to educate adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It will assist these specialists in the diagnosis and treatment of steroid disorders. The book is written for postgraduate and faculty-level physicians. The content consists of steroid disorders, genetic bases for the disorder and case presentations of each disorder. Provides a common language for professionals to discuss and diagnose genetic steroid disorders Includes the very latest details on genetic tests and diagnoses Offers a strong understanding of the molecular basis for the diseases and therefore correct diagnosis and treatment of steroid disorders Presents 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
Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology: Proceedings of the 2nd World Conference
Proceedings of the 2nd World Conference – Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology. The meeting took place at The Eden Roc Hotel in Miami Beach, Florida, 1/15/10 – 1/17-10. Endocrinology and more specifically, the area of sexual differentiation disorders is an evolving field of medicine. The diagnosis and treatment of Disorders of Sex Development (DSD) is multi-faceted.
Thyroid Nodules
Utilizing the most current evidence, this practical book is the first publication of its kind to focus exclusively on the clinical and laboratory evaluation and therapy of thyroid nodules, including advances in evaluation and controversies in management. Opening with chapters presenting the epidemiology, history, laboratory and clinical evaluation of thyroid nodules, the use of radioactive isotope ultrasound and CT scanning in diagnosis is then described. The interpretation of thyroid cytology following fine needle aspiration (FNA) biopsies and the use of molecular markers are discussed in detail, as is the controversial use of thyroxine therapy. Following a presentation of the common and minimally invasive surgical approaches to thyroid nodules, chapters on multinodal goiters, incidentalomas and thyroid nodules in children round out the presentation. Written and edited by leading US and international thyroidologists, Thyroid Nodules is a useful, state-of-the-art text for endocrinologists, surgeons, and primary care physicians.
Mastopexy and Breast Reduction
This comprehensive guide covers all aspects of mastopexy and breast reduction, ranging from anatomy to the variety of procedures in mastopexy, mastopexy/breast reduction, and breast reduction, preoperative care, complications, breast tumors (benign and malignant), and medicolegal aspects.
The Thyroid and Its Diseases
This book is an up-to-date and comprehensive guide to all the common thyroid disorders that may be seen by internists, endocrinologists, nuclear medicine physicians, and endocrine surgeons. While the fundamentals of thyroid hormone function and regulation in health and disease are well covered, the primary focus is on the clinical approach to thyroid disease, with detailed coverage of both initial diagnosis and management and the role of imaging. Because most endocrine diseases are chronic and lifelong, special emphasis is placed on long-term management and the common pitfalls that may be encountered by the clinician. The editors are internationally acknowledged leaders in the field of thyroid disease and have gathered an outstanding team of authors, all of whom are also highly expert in their respective areas, but who, equally importantly, write in a clear and lucid style. The numerous isotope scan and ultrasonographic images ensure that the book will serve as a valuable reference atlas to which the physician will return again and again.
Genetic Steroid Disorders
Adrenal disorders that are caused by specific genetic alterations comprise a heterogeneous group of diseases with mostly low incidence that can affect patients from birth to adulthood. These conditions include failure of proper adrenal development resulting in adrenal agenesis or, conversely, adrenal tumorigenesis. Furthermore, deficiencies of adrenal steroidogenesis result in a lack or a shift of adrenal steroid production that can cause a specific clinical phenotype. For functional studies of gene products, mouse models remain to be intensively utilized as an experimental system owing to the similarity to humans with respect to genome organization, development, and physiology. For the majority of adrenal genetic disorders, mouse models exist that in most instances resemble the clinical phenotype observed in affected patients. Here we provide an overview of these models that allows for both mechanistic and therapeutically relevant investigations that will eventually translate into improved patient care.
Genetic Steroid Disorders
Adrenocortical tumors (ACT) are common neoplasms, with a prevalence that increases with age, reaching a peak of 6% after 60 years. Most are benign cortical adenomas (ACA). Their malignant counterparts, adrenocortical carcinomas (ACC), are rare and are usually associated with a dismal prognosis. The genetic basis of adrenocortical tumorigenesis is not completely understood, but is thought to be a multistep process. Over the past two decades many molecular aspects of ACT tumorigenesis have been uncovered, especially after the elucidation of the molecular basis of genetic syndromes of which ACTs are a feature. More recently, genome-wide expression profiles and animal models have provided new insights into the explanation of this complex process. Many of the key genes and pathways have been elucidated and are the current focus of therapeutic intervention. Integrated pangenomic and other global analyses will be done in the coming years and promise to advance our understanding of adrenocortical tumorigenesis to a higher level.
Genetic Steroid Disorders
A 46,XY DSD is a condition in which a child has a 46,XY genotype but in whom gonadal, or anatomical, sex is atypical. A 46,XY DSD can be caused by multiple etiologies, most commonly involving disruption in both androgen production and/or action.
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...
Genetic Steroid Disorders
Apparent mineralocorticoid excess (AME) is a rare inherited form of hypertension caused by 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD) deficiency. The disorder was first described biochemically and hormonally in 1977 by New et al. in a Native American girl with severe hypertension. AME defined an important “pre-receptor” pathway in steroid hormone action and their specificities to the receptor. The exploration of the pathogenesis of AME opened a new area in receptor biology as a result of the demonstration that the specificity of the mineralocorticoid receptor function depends on a metabolic enzyme (11β-HSD2) rather than the receptor itself. The clinical manifestations of AME mimic those of excessive mineralocorticoid activity, but plasma levels of aldosterone and other known mineralocorticoids are not elevated. Affected patients may present with low birthweight, failure to thrive, severe hypertension, hypercalciuria and renal failure. The hypertension is severe, with onset in early childhood.
