CAH Screening PDF Download
Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download CAH Screening PDF full book. Access full book title CAH Screening by Natasha Heather. Download full books in PDF and EPUB format.
Author: Natasha Heather
Publisher: MDPI
ISBN: 3036509240
Category : Medical
Languages : en
Pages : 146
Get Book Here
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: Natasha Heather
Publisher: MDPI
ISBN: 3036509240
Category : Medical
Languages : en
Pages : 146
Get Book Here
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: Stephan Lobitz
Publisher: MDPI
ISBN: 3039216147
Category : Medical
Languages : en
Pages : 160
Get Book Here
Book Description
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.
Author: M. Polak
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318061433
Category : Medical
Languages : en
Pages : 170
Get Book Here
Book Description
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.
Author: Maria I. New
Publisher: Academic Press
ISBN: 0128214252
Category : Science
Languages : en
Pages : 470
Get Book Here
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: Mary Ann Baily
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 384
Get Book Here
Book Description
D., University of Washington--Mary Anderlik Majumder, Baylor College of Medicine "American Journal of Human Genetics"
Author: Philip Sunshine
Publisher: McGraw-Hill Education / Medical
ISBN: 9780071763769
Category : Medical
Languages : en
Pages : 0
Get Book Here
Book Description
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.
Author: M. Eda Ertorer
Publisher: Springer Nature
ISBN: 3030825914
Category : Medical
Languages : en
Pages : 157
Get Book Here
Book Description
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.
Author: Wuh-Liang Hwu
Publisher: MDPI
ISBN: 3036505806
Category : Science
Languages : en
Pages : 146
Get Book Here
Book Description
Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease.
Author: Ahmed H. Al-Salem
Publisher: Springer Nature
ISBN: 3030499847
Category : Medical
Languages : en
Pages : 482
Get Book Here
Book Description
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.
Author: Bradford L. Therrell
Publisher: IAEA
ISBN:
Category : Medical
Languages : en
Pages : 144
Get Book Here
Book Description
Congenital hypothyroidism, when undiagnosed or if there is a lack of proper treatment management, results in an unnecessary health, economic and social burden. Formalized screening programs to detect congenital hypothyroidism in newborn infants, and its timely treatment, can prevent lifelong human suffering caused by severe mental retardation. With the involvement of the IAEA, such screening programs have been introduced successfully in a large number of countries. However, in many other countries such programs have not yet been established. This publication is intended to assist these countries in establishing and sustaining a comprehensive screening system for newborns, and draws on experience gained over more than a decade. It provides information for making sound screening policy decisions and describes how a newborn screening system should be set up, offering guidance on assessing the quality of the system. The intended result is that more successful programs will be established, bringing about a significant improvement in child health care worldwide.--Publisher's description.
