Congenital Adrenal Hyperplasia Book

Congenital Adrenal Hyperplasia


  • Author : Peter C Hindmarsh
  • Publisher : Academic Press
  • Release Date : 2017-04-19
  • Genre: Medical
  • Pages : 504
  • ISBN 10 : 9780128114841

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Congenital Adrenal Hyperplasia Excerpt :

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

Congenital Adrenal Hyperplasia Book

Congenital Adrenal Hyperplasia


  • Author : C. Y. Hsu
  • Publisher : CHSR Enterprises, LLC
  • Release Date : 2005
  • Genre: Family & Relationships
  • Pages : 308
  • ISBN 10 : 1420806491

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Congenital Adrenal Hyperplasia Excerpt :

You too can use your experience and passion for photography to capture those special moments that will last a lifetime. This step by step book is designed to help you make be successful by giving you clear and specific steps to take in order to start and manage your business successfully. Timelines, strategies, planning, and tips are all included to increase your success and decrease costly mistakes. You'll learn: How to get started with little or no money even while working full time. What software to use in order to effectively automate your office. The right pricing structure in order to quickly become profitable. How to create an effective Business Plan. Marketing and advertising insights and which methods are most effective. 10 tips to win deals over the competition. How to build your Portfolio in order to get your first deal. How to choose the right equipment and at a fraction of the cost. What photographs sell the best and what shots not to miss. 5 secrets to handling any customer service issue. Understand the 5 point sales process and how to effectively control them. Includes: MS Project plan and detailed tasks to keep you on track. Includes forms such as standard contract, model release, competitive analysis, pricing guides, sales projections and many more. A full sales toolkit including the 4 buying motivators.

Fertility and Reproductive Outcomes in Different Forms of Congenital Adrenal Hyperplasia Book

Fertility and Reproductive Outcomes in Different Forms of Congenital Adrenal Hyperplasia


  • Author : M. Eda Ertorer
  • Publisher : Springer Nature
  • Release Date : 2021-10-30
  • Genre: Medical
  • Pages : 155
  • ISBN 10 : 9783030825911

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Fertility and Reproductive Outcomes in Different Forms of Congenital Adrenal Hyperplasia Excerpt :

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.

Cognitive and Behavioral Abnormalities of Pediatric Diseases Book

Cognitive and Behavioral Abnormalities of Pediatric Diseases


  • Author : Ruth Nass, MD
  • Publisher : Oxford University Press
  • Release Date : 2010-04-12
  • Genre: Medical
  • Pages : null
  • ISBN 10 : 9780199711574

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Cognitive and Behavioral Abnormalities of Pediatric Diseases Excerpt :

This book provides a detailed account of intellectual, other neuropsychological and behavioral manifestations of general pediatric diseases. The conditions discussed include the whole range of pediatric diseases - genetic syndromes, other congenital conditions, metabolic, endocrine, gastrointestinal, infectious, immunologic, toxic, trauma, and neoplastic, as well as sensory disabilities including deafness and blindness. Although the book is not intended to discuss cognitive and behavioral manifestations of conditions usually considered to be primary neurological disease, some of those, including cerebral palsy, muscular dystrophy, myotonic dystrophy and epilepsy, are included. Where possible, a "translational" approach is used, linking the behavioral and cognitive manifestations of these conditions, to the underlying structural, chemical or genetic abnormalities and their effect on the brain, and, in turn, on behavior and cognition. At the same time, included are significant psychosocial factors. Together, those factors have a major effect on patients' performance, including school performance, and on their families. This book is unique in its extensive coverage of the major pediatric conditions and of the detailed neurological, neuropsychological and behavioral aspects of each condition.

Genetic Steroid Disorders Book

Genetic Steroid Disorders


  • Author : Maria I. New
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Genre: Medical
  • Pages : 406
  • ISBN 10 : 9780128072769

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Genetic Steroid Disorders Excerpt :

This book demonstrates that each steroid disorder causing both clinical and biochemical abnormalities in patients now has a genetic basis. The genes for each step in steroidogenesis have been mapped and cloned, and the mutations in the gene causing the disorder have been described. In addition, the structural biology of the protein resulting from the mutation in the gene has been reported for many of the disorders.

Transition of Care Book

Transition of Care


  • Author : M. Polak
  • Publisher : Karger Medical and Scientific Publishers
  • Release Date : 2018-06-11
  • Genre: Medical
  • Pages : 164
  • ISBN 10 : 9783318061437

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Transition of Care Excerpt :

Pediatricians face many questions and challenges during patients’ transition from childhood to adulthood. Chronic diseases justify long-term medical, psychological, educational, and social management. The establishment of networks with adult endocrinologists is, therefore, very important to achieving optimal conditions for a successful transition period. In this book, leading experts discuss major public health issues such as diabetes and obesity. They also review genetic diseases, including Turner syndrome and congenital adrenal hyperplasia. All clinical cases are presented in a focused way to highlight any issues which might be discussed by the doctor with patients and family. Psychological approaches are debated as are proposals for defining specific tools to encourage autonomy during this life period. This book is a valuable tool and will be helpful in answering many questions for endocrinologists, adult and pediatric, dedicated to the long-term management of patients with chronic diseases.

Genetic Diagnosis of Endocrine Disorders Book

Genetic Diagnosis of Endocrine Disorders


  • Author : Roy E. Weiss
  • Publisher : Academic Press
  • Release Date : 2015-10-09
  • Genre: Medical
  • Pages : 472
  • ISBN 10 : 9780128011348

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Genetic Diagnosis of Endocrine Disorders Excerpt :

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

The Metabolic   Molecular Bases of Inherited Disease Book

The Metabolic Molecular Bases of Inherited Disease


  • Author : Charles R. Scriver
  • Publisher : New York ; Montreal : McGraw-Hill
  • Release Date : 2001
  • Genre: Genetic disorders
  • Pages : 6338
  • ISBN 10 : 007136319X

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The Metabolic Molecular Bases of Inherited Disease Excerpt :

Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Pediatric Gynecology Book

Pediatric Gynecology


  • Author : Ahmed H. Al-Salem
  • Publisher : Springer Nature
  • Release Date : 2020-09-29
  • Genre: Medical
  • Pages : 478
  • ISBN 10 : 9783030499846

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Pediatric Gynecology Excerpt :

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.

Hyperandrogenism in Women Book

Hyperandrogenism in Women


  • Author : R. Pasquali
  • Publisher : Karger Medical and Scientific Publishers
  • Release Date : 2019-09-09
  • Genre: Medical
  • Pages : 192
  • ISBN 10 : 9783318064711

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Hyperandrogenism in Women Excerpt :

Hyperandrogenism profoundly affects women’s lives from lowering self-esteem to changing cognition and affective motivation. The polycystic ovary syndrome (PCOS) is the most common androgen excess disorder worldwide. While it is not the focus of this book, some aspects are discussed. The aim of this book is to improve understanding of androgen excess and its impact on several conditions. Topics include development of adipose tissue in females, insulin sensitivity, congenital adrenal hyperplasia, and Cushing’s disease/syndrome. There is also a discussion of PCOS with emphasis on in utero origins and specific genetic and epigenetic factors. This book provides a wealth of relevant information for every endocrinologist and gynecologist who wants to broaden their knowledge of androgens in various conditions.

Congenital Adrenal Hyperplasia Book

Congenital Adrenal Hyperplasia


  • Author : M.I. New
  • Publisher : Springer Science & Business Media
  • Release Date : 2012-12-06
  • Genre: Medical
  • Pages : 90
  • ISBN 10 : 9783642820113

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Congenital Adrenal Hyperplasia Excerpt :

Congenital adrenal hyperplasia (CAH) consists of a group of disorders of adrenal steroidogenesis. Each disorder results from an inherited deficiency of one of the several enzymes necessary for normal steroid synthesis. The different enzyme deficiencies produce characteristic patterns of hormonal abnormalities; the clinical symptoms of the different forms of CAH depend on the particular hormones that are deficient or that are produced in excess. The earliest documented description of CAH was by DeCrecchio in 1865 (DeCrecchio 1865). This Neapolitan anatomist described a cadaver having a penis with first degree hypospadias but no externally palpable gonads. Dis section revealed a vagina, uterus, fallopian tubes, ovaries, and markedly enlarged adrenals. It is interesting that the subject suffered a confusion of sex assignment, being declared a female at birth and a male 4 years later. He conducted himself as a male sexually and socially. Since the original descrip tion of this case, investigators have unravelled the pathophysiology of the inborn errors of steroidogenesis. 1 Steroidogenesis and Enzymatic Conversions of Adrenal Steroid Hormones A. Steroidogenesis The adrenal synthesizes three main classes of hormones: mineralocorticoids (17-deoxy pathway), glucocorticoids (17-hydroxy pathway), and sex steroids.

Genetic Steroid Disorders Book

Genetic Steroid Disorders


  • Author : Maria I. New
  • Publisher : Elsevier Inc. Chapters
  • Release Date : 2013-08-22
  • Genre: Medical
  • Pages : 406
  • ISBN 10 : 9780128072783

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Genetic Steroid Disorders Excerpt :

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. The first two forms are classical forms of the disease where the hallmark finding is ambiguity of the genitalia in affected female newborns. Patients with the non-classical form have normal genitalia, yet may present with signs of early sexual development and other symptoms of hyperandrogenemia such as short stature, hirsutism, acne, and impaired fertility. Hormonal testing is important in making the diagnosis of 21-hydroxylase deficiency, yet genetic testing is crucial to secure the diagnosis. More than 100 mutations have been identified caused by gene conversions, large scale gene deletions, and de novo mutations, and novel mutations are continuously being identified. Genotype–phenotype non-concordance is observed in a significant number of patients.

Consults in Obstetric Anesthesiology Book

Consults in Obstetric Anesthesiology


  • Author : Suzanne K. W. Mankowitz
  • Publisher : Springer
  • Release Date : 2018-11-15
  • Genre: Medical
  • Pages : 699
  • ISBN 10 : 9783319596808

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Consults in Obstetric Anesthesiology Excerpt :

This text addresses the need for a book specifically aimed at obstetric anesthesia and covers topics such as pulmonary, cardiac renal, hepatic, hematologic, neurologic, endocrine and other diseases. The real anesthetic challenge arises when patients present to Labor and Delivery with unusual or complicated medical problems and, in recent years, a few of the larger institutions have developed an Obstetric Anesthesiology Consultation Service to prepare for the management of these patients. While most pregnant women who present to Labor and Delivery require anesthetic intervention, they typically meet the anesthesiologist for the first time in labor. Since the majority of laboring women are healthy without significant comorbidities, this does not present much of a challenge to the anesthesiologist and the anesthetic management tends to be straight-forward with favorable outcomes. However, using this new model, the anesthesiologist has the opportunity to discuss the various treatment modalities and potentially suggest diagnostic testing to be performed prior to delivery, similar to the pre-operative testing that is done in other surgical environments.

Neonatology  Clinical Practice and Procedures Book

Neonatology Clinical Practice and Procedures


  • Author : Philip Sunshine
  • Publisher : McGraw-Hill Education / Medical
  • Release Date : 2015-05-15
  • Genre: Medical
  • Pages : 1440
  • ISBN 10 : 0071763767

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Neonatology Clinical Practice and Procedures Excerpt :

Publisher's Note: Products purchased from Third Party sellers are not guaranteed by the publisher for quality, authenticity, or access to any online entitlements included with the product. Understand the fundamental principles of neonatology and learn evidence-based care strategies With coverage that strikes the perfect balance between proven management approaches and fundamental principles, this unique resource combines the benefits of a comprehensive neonatology textbook with a practical procedural guide. You will get a detailed step-by-step instruction on diagnosis, management, and treatment of acute problems of the newborn as organized by organ system, based on the highest level of evidence available, along with a thorough review of topics such as epidemiology, ethics, legal issues in the NICU, monitoring devices, fluid requirements, and enteral nutrition. Features A full-color presentation that includes hundreds of figures and tables An emphasis on proven care strategies for improved outcomes Detailed procedural instruction An organ-system approach when discussing neonatal disorders A practical approach to all topics with detailed management approaches and procedures Neonatology: Clinical Practice and Procedures will prove to be an outstanding refresher for any clinician involved in the diagnosis and management of newborn infants and a valuable instructional guide for junior staff and residents.