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Congenital Adrenal Hyperplasia: A Comprehensive Guide addresses how hydrocortisone works, what can go wrong, and how to correct it, also explaining why the timing of doses and measurement of cortisol from a dose is extremely important. The book provides an in-depth analysis of this disorder for pediatric endocrinologists and primary care providers, allowing them to help patients with an updated model of care and appropriate treatment. Patients and family members will benefit from the trend-forward information that will empower them to approach their healthcare providers with the expectation of receiving individualized care and treatment for this disorder. - Outlines the basics of congenital adrenal hyperplasia and its interrelation with hormones and bodily functions - Presents the known cognitive and emotional aspects of the disease - Reviews multidisciplinary management as well as post-treatment management of the disease
This book covers all forms of Congenital Adrenal Hyperplasia (CAH) and provides a comprehensive overview of accompanying reproductive problems. Affected individuals may exhibit low fecundability, infertility, recurrent miscarriages, painful sexual intercourse, sexual orientation changes, etc. If not diagnosed and treated properly, their children may also experience developmental disorders of the external genitalia. Depending on the defects in enzymes, severity of the mutations and residual enzymatic activities, the clinical presentation may differ from patient to patient. As these disorders are encountered relatively rarely, many cases are either undiagnosed or inappropriately treated. Given its scope, this book offers a valuable guide for gynecologists, endocrinologists, pediatricians, and professionals in reproductive medicine, as well as GPs, practicing physicians, medical students and residents.
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 of genetic steroid disorders in one reference work - Provides a common language for endocrinologists, geneticists, molecular pathologists, and genetic counselors to discuss and diagnose genetic steroid disorders Saves clinicians and researchers time in quickly accessing the very latest details on genetic tests and diagnoses as opposed to searching through thousands of journal articles - Highlights significant discoveries with clinical relevance, presenting 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
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Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders. The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias. - Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases - Teaches the essentials of the genetic basis of disease in each major endocrine organ system - Offers expert advice from genetic counselors on how to use genetic information in counseling patients - Includes new chapters on the genetics of lipid disorders and glycogen storage diseases, genetics of hypoglycemia, and whole genome/exome sequencing
This richly-illustrated book is a reader-friendly reference guide on pediatric gynecology covering both congenital and acquired conditions. Discussing a broad range of conditions from ovarian cysts and endometriosis to disorders of sexual development and breast disorders, this book presents the topics in a concise manner using a practical approach. Each chapter is divided into sections that cover all aspects of the topic including radiology, surgery and clinical aspects and the text is accompanied by ample images.The book will be of use to general surgeons, pediatricians, pediatric surgeons, pediatric endocrinologists, pediatric urologists, obstetricians and gynaecologists.
This book provides a comprehensive guide for nurses practicing in any area of endocrinology and at any level of expertise. Endocrinology Nursing is a fast-developing specialty with nurses performing advanced roles and expanding their practice to run independent nurse-led services. Supported by the European Society of Endocrinology (ESE) and edited by members of the ESE Nurses Working Group, this is the first book ever published specifically for endocrine nurses. It is also an excellent resource for endocrinology specialty trainees, general practitioners, medical and nursing students, expert patients and nurses working in specialties such as fertility, osteoporosis, oncology, obesity, urology and gynaecology, who look after patients with endocrine-related disorders. This volume includes 13 sections and 69 chapters providing a comprehensive overview of adult and paediatric endocrinology but also a section on advanced practice, role development and nursing research. It has been written by an international team of more than 100 eminent nurses, physicians, surgeons, psychologists and other healthcare professionals, which makes this book a valuable resource for any multidisciplinary team. Many patient advocacy groups have contributed with case studies which emphasises the close working relationships with patients.
This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.
Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.
This practical resource provides the latest evidence, management strategies and recommendations for the treatment of disorders of the adrenal glands, including related physiology, genetics and pharmacology. This book is divided into three thematic sections. The first covers adrenal physiology, presenting adrenal zonation and development, the regulation of steroidogenesis, and the pharmacology of glucocortisoids. Part two discusses the genetics and pathophysiology of a number of adrenal disorders, including autoimmune Addison’s disease, congenital adrenal hyperplasia, primary aldosteronism, adrenocortical tumors and hyperplasias, and pheochromocytomas and paragangliomas. The final section presents the latest diagnostic and management strategies for these disorders, addressing adrenal insufficiency, adrenal Cushing’s Syndrome and aldosteronism, among others. Over the past twenty years, our understanding of disorders of the adrenal glands has been altered and deepened. Providing a much-needed update to the literature, Adrenal Disorders: Physiology, Pathophysiology and Treatment will be an important resource for both academic and clinical endocrinologists working with the adrenal glands and managing patients with adrenal disorders.