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Genetic Steroid Disorders

Genetic Steroid Disorders Book
Author : Perrin C. White
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128072814
Language : En, Es, Fr & De

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Book Description :

Humans have two isozymes with 11β-hydroxylase activity that are respectively required for cortisol and aldosterone synthesis. CYP11B1 (11β-hydroxylase) converts 11-deoxycortisol to cortisol and 11-deoxycorticosterone to corticosterone, is expressed at high levels and is regulated by ACTH. CYP11B2 (aldosterone synthase) is normally expressed at low levels and is regulated mainly by angiotensin II and potassium levels. The latter enzyme also has 18-hydroxylase and 18-oxidase activities and thus can synthesize aldosterone from deoxycorticosterone. Mutations in the CYP11B1 gene cause steroid 11β-hydroxylase deficiency, a form of congenital adrenal hyperplasia. Mutations in CYP11B2 result in aldosterone synthase deficiency, which can cause hyponatremia, hyperkalemia and hypovolemia in infancy. These are both recessive disorders. Unequal crossing over between the CYP11B genes can generate a duplicated chimeric gene, causing glucocorticoid-suppressible hyperaldosteronism, an autosomal dominant form of hypertension. Frequent polymorphisms in these genes can affect aldosterone secretion and risk of hypertension.

Genetic Steroid Disorders

Genetic Steroid Disorders Book
Author : Yves Morel,Florence Roucher,Ingrid Plotton,Jacques Simard,Mauricio Coll
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128072830
Language : En, Es, Fr & De

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Book Description :

The transformation of Δ5-3β-hydroxysteroids into the corresponding Δ4-3-keto-steroids is an essential step for the biosynthesis of all classes of active steroids: progesterone, mineralocorticoids, glucocorticoids, androgens, and estrogens. These steroid hormones play a crucial role in the differentiation, development, growth, and physiological function of most human tissues. The 3β-HSD deficiency (OMIM +201810), transmitted in an autosomic recessive disorder, is characterized by varying degrees of salt wasting; in genetic males, fetal testicular 3ß-HSD deficiency causes an undervirilized male genitalia (male pseudohermaphroditism); females exhibit either normal sexual differentiation or mild virilization.

Genetic Steroid Disorders

Genetic Steroid Disorders Book
Author : Richard J. Auchus
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128072849
Language : En, Es, Fr & De

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Book Description :

Steroid 17-hydroxylase 17,20-lyase (cytochrome P450c17, CYP17A1) occupies a critical position in the pathways of human steroidogenesis, regulating the classes of steroid hormones produced by cells of the adrenal glands and gonads. CYP17A1 catalyzes two major reactions: the 17-hydroxylase and 17,20-lyase reactions. Mutations that compromise all CYP17A1 activities cause combined 17-hydroxylase/17,20-lyase deficiency, which presents as hypertension, hypokalemia, and sexual infantilism. A few mutations selectively impair 17,20-lyase activity, and some mutations in cofactor proteins cytochrome P450-oxidoreductase and cytochrome b5 also selectively disrupt 17,20-lyase activity. This chapter reviews the genetics, clinical presentation, management, and history of these disorders.

Genetic Steroid Disorders

Genetic Steroid Disorders Book
Author : Maria I. New,Oksana Lekarev,Alan Parsa,Tony T. Yuen,Bert O'Malley,Gary D Hammer
Publisher : Academic Press
Release : 2013-08-22
ISBN : 0123914671
Language : En, Es, Fr & De

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Book Description :

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

Genetic Steroid Disorders

Genetic Steroid Disorders Book
Author : Jonathan F. Russell,Jenise C. Wong,Melvin M. Grumbach
Publisher : Elsevier Inc. Chapters
Release : 2013-08-22
ISBN : 0128072873
Language : En, Es, Fr & De

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Book Description :

Aromatase is a cytochrome P450 enzyme that catalyzes a critical step in the conversion of androgens (C19 steroids) to estrogens (C18 steroids). Mutations in the aromatase gene (CYP19A1) can result in a lack of aromatase activity and, as a consequence, impairment in estrogen biosynthesis. The functional consequences of this deficiency begin in utero owing to the inability of the placenta to convert androgens to estrogens. This disorder is termed aromatase deficiency (AD). Upon the initial identification of patients with AD, certain clinical findings, such as virilization of the pregnant mother and 46,XX fetus, were easily understood based on the known effects of placental aromatase on the conversion of C19 androgens and androgen precursors to estrogens. However, the discovery that the lack of estrogens in both females and males with AD leads to the absence of a pubertal growth spurt, delayed bone age, delayed epiphyseal fusion, and decreased accrual of bone mass in the male (not only in the female) has transformed our understanding of the role of estrogen on the male skeleton. It is now established that in both females and males, estrogen induces the pubertal growth spurt and mediates epiphyseal fusion. In this chapter we summarize the clinical characteristics, pathophysiology, differential diagnosis, and treatment of human AD. The implications of AD for the clinical use of aromatase inhibitors are reviewed.

Exam Prep for Genetic Steroid Disorders

Exam Prep for  Genetic Steroid Disorders Book
Author : Anonim
Publisher : Unknown
Release : 2020-12-03
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Exam Prep for Genetic Steroid Disorders book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Endocrinology Adult and Pediatric E Book

Endocrinology  Adult and Pediatric E Book Book
Author : J. Larry Jameson,Leslie J. De Groot
Publisher : Elsevier Health Sciences
Release : 2015-02-25
ISBN : 032332195X
Language : En, Es, Fr & De

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Book Description :

Considered the definitive source in its field for over 35 years, Endocrinology: Adult and Pediatric, has been thoroughly updated to reflect today's recent advances in adult and pediatric endocrinology. Unique perspectives from a team of trusted, world-renowned experts ensure this medical reference book remains the most highly-regarded text in the field. Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. Locate information quickly, while still getting the complete coverage you expect. Expanded coverage for key topics such as pediatric endocrinology and obesity mechanisms and treatment, in addition to today's hot topics in endocrinology, including endocrine disruptors, bariatric surgery, androgen deficiency, genetic causes of obesity, endocrine rhythms, and the use of tyrosine kinase inhibitors in thyroid cancer. New content addressing the latest advances in testosterone and estrogen replacement, as well as the new causes of calcium and phosphate disorders, new molecular causes of endocrine cancers, new genetic causes of reproductive disorders, and more. Updated clinical guidelines for diabetes, lipid disorders, obesity management, osteoporosis, and more, as well as essential treatment updates for the medical management of acromegaly, Cushing's Disease, hypercalcemia, and diabetes mellitus. New Key Points provide snapshots of what to expect in each chapter, or serve as a refresher of what you just read. Consult this title on your favorite e-reader.

Steroid Receptors in Health and Disease

Steroid Receptors in Health and Disease Book
Author : Virinder Moudgil
Publisher : Springer Science & Business Media
Release : 2013-03-09
ISBN : 1468455419
Language : En, Es, Fr & De

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Book Description :

During the last two decades, progress in steroid hormone research has resulted in the development of new approaches to contraception as well as diagnosis and treatment of endocrine disorders and cancers. Although significant advances have been made in the purification, characterization, immunochemistry and molecular biology of steroid receptors, the precise molecular mechanism of steroid hormone action has remained obscure. This book captures the detailed presentations made at the first conference on Steroid Receptors in Health and Disease held at Meadow Brook Hall, Oakland University in the fall of 1987. The purpose of this international con ference was to facilitate scientific exchange toward a better understand ing of the mode of action of steroid hormones. The scientific sessions consisted of poster presentations and state-of-the-art lectures, the latter of which make up this volume. The first chapter is meant to provide the reader with a more general background of the topics covered in the book, as well as to discuss certain theme-related issues that are either not yet well-established or accepted or are in the stage of infancy. It is hoped that this volume will serve as a useful treatise for students and investigators interested in basic and clinical aspects of biological regulation by steroid hormones. A task of this magnitude could not have been undertaken without the encouragement, advice and continued generous assistance of the members of the scientific committee. I am gratefully indebted to Drs.

Genes in Medicine

Genes in Medicine Book
Author : I. Rasko,C.S. Downes
Publisher : Springer Science & Business Media
Release : 1994-09-30
ISBN : 9780412373404
Language : En, Es, Fr & De

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Book Description :

This stimulating book bridges the gap between molecular biology and human genetics. Specifically written for medical students and human geneticists, it is a valuable guide to a rapidly moving field.

Genetics of Steroid Biosynthesis and Function

Genetics of Steroid Biosynthesis and Function Book
Author : J.I. Mason
Publisher : CRC Press
Release : 2002-05-23
ISBN : 0203301498
Language : En, Es, Fr & De

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Book Description :

Steroids are among the most widely prescribed drugs for humans, and steroid signaling pathways are present in vertebrates, plants, insects and fungi, presenting new avenues for biotechnological intervention. Genetics of Steroid Biosynthesis and Function focuses on the genetic and cellular aspects of mammalian steroid hormones with particular attent

Emery s Elements of Medical Genetics E Book

Emery s Elements of Medical Genetics E Book Book
Author : Peter D Turnpenny,Sian Ellard
Publisher : Elsevier Health Sciences
Release : 2011-03-04
ISBN : 0702045055
Language : En, Es, Fr & De

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Book Description :

Master the genetics you need to know with the updated 14th Edition of Emery’s Elements of Medical Genetics by Drs. Peter Turnpenny and Sian Ellard. Review the field’s latest and most important topics with user-friendly coverage designed to help you better understand and apply the basic principles of genetics to clinical situations. Learning is easy with the aid of clear, full-color illustrative diagrams, a wealth of clinical photographs of genetic diseases, multiple-choice and case-based review questions, and end-of-chapter summaries. With this highly visual, award-winning classic in your hands, you have all the genetics knowledge you need for exams or practice. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. Get a broad view of medical genetics with a unique three-part structure that looks at the Principles of Human Genetics, Genetics in Medicine, and Clinical Genetics. Visualize the appearance of genetic disorders with a fantastic art program that presents many clinical photos of genetic diseases, and work through complicated ideas with an array of full-color illustrative diagrams. Master the material you need to know with a title preferred by faculty and students alike over the last three decades and awarded the British Medical Association Medial Student Textbook of the Year in 2008. Access to www.studentconsult.com, including 150 USMLE-style multiple choice questions to aid study and self-testing. Apply the latest research with chapters on developmental genetics, cancer genetics, prenatal testing and reproduction genetics, ‘clonal’ sequencing, and more. Understand complex concepts with the help of an increased number of diagrams. Be fully aware of social, ethical, and counseling issues by reviewing an improved section on these topics.

Clinical Neurophysiology E Book

Clinical Neurophysiology   E Book Book
Author : U. K Misra
Publisher : Elsevier Health Sciences
Release : 2012-06-07
ISBN : 8131231518
Language : En, Es, Fr & De

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Book Description :

Clinical Neurophysiology is aimed at bedside clinical application of neurophysiological tests, with emphasis on clinical problem solving. Highly illustrated format including line diagrams, clinical photographs, CT scan and MRI pictures with corresponding neurophysiological findings is a special feature of this book. Clinical Neurophysiology is written by clinicians for fellow clinicians. This book will be useful to all those ordering, conducting or interpreting electrodiagnostic tests, especially students and clinicians in the areas of neurology, neurosurgery, and pediatrics. The exposition is systematically organized into the following three parts: Nerve Conduction: It discusses the basis of electrodiagnostic signals and their measurements. The techniques of performing nerve conduction tests of various nerves have been illustrated with a series of simple line diagrams. Electromyography: It deals with the basis of EMG signals, their recording and interpretation. The application of myography in various myopathies and neurogenic disorders has been discussed in detail. A review of single fiber electromyography is included. Evoked Potentials: This covers visual, brainstem, somatosensory and motor evoked potentials. New to this Edition Three chapters: Electrodiagnosis in Pediatric Practice, Cognitive Evoked Potential, and Role of Clinical Neurophysiology in Prognosis of Neuromuscular Disorders. Updation of all chapters in the light of recent advances in genetics, immunology, molecular diagnosis, and neurophysiology. Extensive revision of Electromyography, Clinical Application of Electromyography and Nerve Conduction, and Repetitive Nerve Stimulation. Many additional illustrations highlighting the clinical applications of various tests.

Neuromuscular Disease Management and Rehabilitation Part II Specialty Care and Therapeutics an Issue of Physical Medicine and Rehabilitation Clinics E Book

Neuromuscular Disease Management and Rehabilitation  Part II  Specialty Care and Therapeutics  an Issue of Physical Medicine and Rehabilitation Clinics  E Book Book
Author : Nanette C. Joyce,Craig M. McDonald
Publisher : Elsevier Health Sciences
Release : 2012-11-15
ISBN : 1455753335
Language : En, Es, Fr & De

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Book Description :

Neuromuscular disease is a broad term that encompasses many diseases and ailments that either directly or indirectly impair the function of the body’s muscle system, via the nerves. This issue of PMR will provide an overview of current treatments and therapies for a variety of diseases. The GEs have gone through every issue published since 1998, and these 23 chapters will be meant to fill the numerous gaps in PMR’s coverage of the field over the past decade. The issue will include chapters on different treatment techniques, such as exercises, stretches, and nutrition. It will also provide chapters focusing on specific areas of the body, specific conditions, and an update on mobility technology for those with NMDs.

Thompson Thompson Genetics in Medicine E Book

Thompson   Thompson Genetics in Medicine E Book Book
Author : Robert L. Nussbaum,Roderick R. McInnes,Huntington F Willard
Publisher : Elsevier Health Sciences
Release : 2007-08-01
ISBN : 1437700934
Language : En, Es, Fr & De

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Book Description :

Through six editions, Thompson & Thompson's Genetics in Medicine has been a well-established favorite textbook on this fascinating and rapidly evolving field, integrating the classic principles of human genetics with modern molecular genetics to help you understand a wide range of genetic disorders. The 7th edition incorporates the latest advances in molecular diagnostics, the Human Genome Project, and much more. More than 240 dynamic illustrations and high-quality photos help you grasp complex concepts more easily. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. Acquire the state-of-the-art knowledge you need on the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, and bio-informatics. Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies. Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included.

Clinical Reproductive Medicine and Surgery E Book

Clinical Reproductive Medicine and Surgery E Book Book
Author : Tommaso Falcone,William Hurd
Publisher : Elsevier Health Sciences
Release : 2007-04-26
ISBN : 0323076599
Language : En, Es, Fr & De

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Book Description :

Clinical Reproductive Medicine and Surgery is the new, definitive resource in reproductive medicine. This unique text offers detailed discussion on both the medical and surgical management of reproductive disorders, as well as coverage of associated imaging modalities. Included are chapters on Reproductive Genetics, Management of Endometriosis (including interventional radiology), Ultrasonography and Sonohysterography, Preservation of Fertility, and Recurrent Pregnancy Loss. A resource every practitioner interested in Reproductive Endocrinology and Infertility needs! Offers detailed discussion of medical and surgical management of reproductive disorders ... No other text offers coverage of both medical and surgical management in one resource. Covers gynecologic disorders that impact fertility--an important aspect of identifying fertility issues, not included in major competition Section on basic reproductive biology ... Not overly detailed -- Written for a clinician to understand how to practice reproductive medicine Section on reproductive imaging ... Unique to this text - includes US and MRI of the reproductive organs Algorithm in each chapter ... 4-color throughout ... Demonstrates the appropriate clinical investigation and management ... Offers attractive layout and best views of surgical procedures

Williams Textbook of Endocrinology E Book

Williams Textbook of Endocrinology E Book Book
Author : Shlomo Melmed,Kenneth S. Polonsky,P. Reed Larsen,Henry M. Kronenberg
Publisher : Elsevier Health Sciences
Release : 2011-05-12
ISBN : 1437736009
Language : En, Es, Fr & De

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Book Description :

The latest edition of Williams Textbook of Endocrinology edited by Drs. Shlomo Melmed, Kenneth S. Polonsky, P. Reed Larsen, and Henry M. Kronenberg, helps you diagnose and treat your patients effectively with up-to-the minute, practical know-how on all endocrine system disorders. Comprehensive yet accessible, this extensively revised 12th Edition updates you on diabetes, metabolic syndrome, obesity, thyroid disease, testicular disorders, and much more so you can provide your patients with the most successful treatments. Find scientific insight and clinical data interwoven in every chapter, reflecting advances in both areas of this constantly changing discipline, and presented in a truly accessible format. You’ll also access valuable contributions from a dynamic list of expert authors and nearly 2.000 full-color images to help you with every diagnosis. This title has everything you need to manage any and all the clinical endocrinopathies you may encounter. Rely on the one reference that integrates rapidly evolving basic and clinical science in a cohesive, user-friendly format, definitively addresses every topic in the field, and has remained a standard for more than half a century. Update your know-how and skills to diagnose and treat your patients most effectively with exhaustively revised content on diabetes, metabolic disease, thyroid cancer, fertility problems, testicular problems, weight issues, and much more. Apply reliable guidance on endocrine conditions of growing interest like hypothyroidism and testicular disorders, with dedicated new chapters that expound on the latest research findings. Overcome any clinical challenge with comprehensive and easy-to-use coverage of everything from hormone activity, diagnostic techniques, imaging modalities, and molecular genetics, to total care of the patient. Apply the latest practices with guidance from expert authors who contribute fresh perspectives on every topic.

Nuclear Receptors and Genetic Disease

Nuclear Receptors and Genetic Disease Book
Author : Thomas P. Burris,Edward R.B. McCabe
Publisher : Academic Press
Release : 2000-09-06
ISBN : 0080917143
Language : En, Es, Fr & De

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Book Description :

Nuclear Receptors and Genetic Disease provides the first compilation of the role of nuclear hormones in health and disease and incorporates the latest breakthroughs in the field. It provides comprehensive reviews of the major receptors prepared by the acknowledged experts in each area. Each chapter provides information on the history, physiology, structure, mechanism of action, genetics, pathophysiology, disease diagnosis, and disease treatment for a particular nuclear receptor. Each chapter also includes a table showing all the known mutations of the respective nuclear receptor with the corresponding clinical disorder. Receptors included in this book are: * The Nuclear Receptor Superfamily * Thyroid Hormone Receptors * Estrogen and Progesterone Receptors * The Androgen Receptor * DAX-1 and Related Orphan Receptors * The Vitamin D Receptor * Retinoid Receptors * Mineralocorticoid and Glucocorticoid Receptors * Hepatocyte Nuclear Factor 4 α * Peroxisome Proliferator Activated Receptors * Coactivators and Corepressors

Cardiovascular Diseases

Cardiovascular Diseases Book
Author : Y. Robert Li
Publisher : John Wiley & Sons
Release : 2015-02-25
ISBN : 1118889916
Language : En, Es, Fr & De

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Book Description :

Written in an accessible style and consistent format, the bookcovers both the fundamentals and advances in the pharmacology ofcardiovascular drugs, as well as their integrated applications inthe management of individual cardiovascular diseases. • Integrates fundamentals and recentadvances regarding cardiovascular drugs, blending basic andclinical sciences needed to effectively understand and treatcardiovascular diseases • Facilitates understanding of drug actionand mechanism by covering physiology / pathophysiology andpharmacology • Includes guidelines and algorithms forpharmacotherapeutic management of cardiovascular diseases • Uses case presentations and studyquestions to enhance understanding of the material • Serves as a resource for pharmaceuticaland medical students and researchers interested in cardiovascularissues

Essentials of Nephrology 2 e

Essentials of Nephrology  2 e Book
Author : kasi Visveswaran
Publisher : BI Publications Pvt Ltd
Release : 2009
ISBN : 9788172253233
Language : En, Es, Fr & De

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Book Description :

Download Essentials of Nephrology 2 e book written by kasi Visveswaran, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Genetic Variation in Hormone Systems

Genetic Variation in Hormone Systems Book
Author : J. G. M. Shire
Publisher : CRC PressI Llc
Release : 1979
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Genetic Variation in Hormone Systems book written by J. G. M. Shire, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.