Feasibility of Newborn Screening for Congenital Adrenal Hyperplasia (21-hydroxylase Deficiency) PDF Download
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Author: Ruth M. Lebovitz
Publisher:
ISBN:
Category : Adrenalin metabolism
Languages : en
Pages : 210
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Book Description
Author: Ruth M. Lebovitz
Publisher:
ISBN:
Category : Adrenalin metabolism
Languages : en
Pages : 210
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Book Description
Author:
Publisher:
ISBN:
Category : Adrenogenital syndrome
Languages : en
Pages : 10
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Book Description
Author: Christine A. Brosnan
Publisher:
ISBN: 9780591061321
Category : Adrenogenital syndrome
Languages : en
Pages : 340
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Book Description
Congenital Adrenal Hyperplasia (CAH), due to 21-Hydroxylase deficiency, has an estimated incidence of 1:15,000 births and can result in death, salt-wasting crisis or impaired growth. It has been proposed that early diagnosis and treatment of infants detected from newborn screening for CAH will decrease the incidence of mortality and morbidity in the affected population. The Texas Department of Health (TDH) began mandatory screening for CAH in June, 1989 and Texas is one of fourteen states to provide neonatal screening for the disorder.
Author: Natasha Heather
Publisher: MDPI
ISBN: 3036509240
Category : Medical
Languages : en
Pages : 146
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Book Description
The aim of this Special Issue of the International Journal of Neonatal Screening on Newborn Screening for Congenital Adrenal Hyperplasia (CAH) is to describe the current state of CAH newborn screening around the world, with a focus on efforts to find solutions to obstacles and on successful strategies to improve the efficiency of CAH screening. It provides insight into the dilemma of optimal timing for specimen collection, successful strategies to reduce the relatively high screening false positive rate, as well as strategies to address limitations in clinical follow-up and the availability of treatment.
Author: Maria I. New
Publisher: Academic Press
ISBN: 0128214252
Category : Science
Languages : en
Pages : 470
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Book Description
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
Author: Erica A. Eugster
Publisher: Springer Science & Business Media
ISBN: 1592591566
Category : Medical
Languages : en
Pages : 721
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Book Description
Leading researchers comprehensively translate all the latest scientific information regarding endocrine physiology and development into an understanding of the clinical pathogenesis, diagnosis, and treatment of endocrine disease. Organized by endocrine system, each section of the book concisely describes the chronological development of the human organism, from the fetal/prenatal period through childhood, adolescence, and in some cases, into adulthood. The prenatal sections review recent discoveries concerning transcription factors, homeobox genes, and human molecular mutations-the basic processes governing prenatal development of the individual endocrine organs-and detail the pathophysiology, clinical characteristics, and treatment of pediatric endocrine disorders.
Author: Mary Ellen McCann
Publisher: Cambridge University Press
ISBN: 1107069777
Category : Medical
Languages : en
Pages : 465
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Book Description
A practical, comprehensive guide to the special needs of infants and neonates undergoing anesthesia.
Author: Geoffrey P. Redmond
Publisher: Raven Press (ID)
ISBN:
Category : Health & Fitness
Languages : en
Pages : 376
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Book Description
Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309047986
Category : Medical
Languages : en
Pages : 353
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Book Description
Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Author: Georg F. Hoffmann
Publisher: Springer Science & Business Media
ISBN: 3540747230
Category : Medical
Languages : en
Pages : 380
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Book Description
The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.
