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Cah Screening
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Download or read book CAH Screening written by Natasha Heather and published by MDPI. This book was released on 2021-04-28 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Genetic Steroid Disorders by : Maria I. New
Download or read book Genetic Steroid Disorders written by Maria I. New and published by Elsevier Inc. Chapters. This book was released on 2013-08-22 with total page 406 pages. Available in PDF, EPUB and Kindle. Book 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.
Book Synopsis Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies by : Stephan Lobitz
Download or read book Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies written by Stephan Lobitz and published by MDPI. This book was released on 2019-10-07 with total page 160 pages. Available in PDF, EPUB and Kindle. Book excerpt: Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies is a Special Issue of the International Journal of Neonatal Screening. Sickle cell disease is one of the most common inherited blood disorders, with a huge impact on health care systems due to high morbidity and high mortality associated with the undiagnosed disease. Newborn screening helps to make the diagnosis early and to prevent fatal complications and diagnostic odysseys. This book gives an overview of diagnostic standards in newborn screening for sickle cell disease and examples of existing newborn screening programs.
Book Synopsis Pediatric Gynecology by : Ahmed H. Al-Salem
Download or read book Pediatric Gynecology written by Ahmed H. Al-Salem and published by Springer Nature. This book was released on 2020-09-29 with total page 482 pages. Available in PDF, EPUB and Kindle. Book 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.
Book Synopsis Feasibility of Newborn Screening for Congenital Adrenal Hyperplasia (21-hydroxylase Deficiency) by : Ruth M. Lebovitz
Download or read book Feasibility of Newborn Screening for Congenital Adrenal Hyperplasia (21-hydroxylase Deficiency) written by Ruth M. Lebovitz and published by . This book was released on 1981 with total page 210 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Endocrine Hypertension by : Karel Pacak
Download or read book Endocrine Hypertension written by Karel Pacak and published by . This book was released on 2002 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Several genetic, biochemical and radiologic discoveries have impacted the management of endocrine hypertension, while surgical procedures have revolutionized treatment of patients with endocrine hypertension. This text contains the proceedings of a 2001 workshop on the topic.
Book Synopsis Fertility and Reproductive Outcomes in Different Forms of Congenital Adrenal Hyperplasia by : M. Eda Ertorer
Download or read book Fertility and Reproductive Outcomes in Different Forms of Congenital Adrenal Hyperplasia written by M. Eda Ertorer and published by Springer Nature. This book was released on 2021-09-28 with total page 157 pages. Available in PDF, EPUB and Kindle. Book 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.
Book Synopsis Recent advances in diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by : Serkan Yener
Download or read book Recent advances in diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency written by Serkan Yener and published by Frontiers Media SA. This book was released on 2023-12-13 with total page 112 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Hyperandrogenism in Women by : R. Pasquali
Download or read book Hyperandrogenism in Women written by R. Pasquali and published by Karger Medical and Scientific Publishers. This book was released on 2019-09-09 with total page 201 pages. Available in PDF, EPUB and Kindle. Book 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.
Book Synopsis Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia by : G.M. Addison
Download or read book Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia written by G.M. Addison and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 346 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Textbook of Clinical Pediatrics by : H. A. Harfi
Download or read book Textbook of Clinical Pediatrics written by H. A. Harfi and published by Springer Science & Business Media. This book was released on 2012-01-10 with total page 4213 pages. Available in PDF, EPUB and Kindle. Book excerpt: The new edition of this classic reference offers a problem-based approach to pediatric diseases. It encompasses almost all pediatric subspecialties and covers every pediatric disease and organ system. It includes case studies and over 750 lavish illustrations.
Book Synopsis Congenital Adrenal Hyperplasia by : C. Y. Hsu
Download or read book Congenital Adrenal Hyperplasia written by C. Y. Hsu and published by CHSR Enterprises, LLC. This book was released on 2005 with total page 314 pages. Available in PDF, EPUB and Kindle. Book 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.
Book Synopsis Advanced Practice in Endocrinology Nursing by : Sofia Llahana
Download or read book Advanced Practice in Endocrinology Nursing written by Sofia Llahana and published by Springer. This book was released on 2019-02-26 with total page 1337 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Newborn Screening for Inborn Errors of Metabolism by : Mohamed A. Elmonem
Download or read book Newborn Screening for Inborn Errors of Metabolism written by Mohamed A. Elmonem and published by Frontiers Media SA. This book was released on 2021-10-29 with total page 131 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author :United States. Congress. Senate. Committee on Health, Education, Labor, and Pensions. Subcommittee on Children and Families Publisher : ISBN 13 : Total Pages :80 pages Book Rating :4.0/5 (9 download)
Book Synopsis Newborn screening by : United States. Congress. Senate. Committee on Health, Education, Labor, and Pensions. Subcommittee on Children and Families
Download or read book Newborn screening written by United States. Congress. Senate. Committee on Health, Education, Labor, and Pensions. Subcommittee on Children and Families and published by . This book was released on 2002 with total page 80 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Cases in Pediatric Acute Care by : Andrea Kline-Tilford
Download or read book Cases in Pediatric Acute Care written by Andrea Kline-Tilford and published by John Wiley & Sons. This book was released on 2020-03-30 with total page 528 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cases in Pediatric Acute Care presents over 100 real-world pediatric acute care cases, each including a brief patient history, a detailed history of present illness, presenting signs and symptoms, vital signs, and physical examination findings. Ideal for developing a systematic approach to diagnosis, evaluation, and treatment, this resource provides students and advanced practitioners with the tools required to deliver comprehensive care to acute, chronic and critically ill children. The cases encompass a wide range of body systems, medical scenarios, professional issues and general pediatric concerns, and feature laboratory data, radiographic images and information on case study progression and resolution. Develops the essential skills necessary to provide the best possible pediatric acute care Discusses the most appropriate differential diagnoses, diagnostic evaluation, and management plans for each case Presents cases related to pulmonary, cardiac, neurologic, endocrine, metabolic, musculoskeletal, and other body systems Highlights key points in each case to quickly identify critical information Cases in Pediatric Acute Care is an excellent resource for advanced practice provider students and pediatric healthcare providers managing acutely ill children.
Book Synopsis Genetics of Endocrine Diseases and Syndromes by : Peter Igaz
Download or read book Genetics of Endocrine Diseases and Syndromes written by Peter Igaz and published by Springer Nature. This book was released on 2019-10-06 with total page 476 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
