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CAH Screening

Author : Natasha Heather

Publisher : MDPI

Page : 146 pages

File Size : 31,94 MB

Release : 2021-04-28

Category : Medical

ISBN : 3036509240

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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.



Genetic Steroid Disorders

Author : Maria I. New

Publisher : Academic Press

Page : 470 pages

File Size : 14,84 MB

Release : 2023-06-14

Category : Science

ISBN : 0128214252

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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



Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies

Author : Stephan Lobitz

Publisher : MDPI

Page : 160 pages

File Size : 16,90 MB

Release : 2019-10-07

Category : Medical

ISBN : 3039216147

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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.



Ethics and Newborn Genetic Screening

Author : Mary Ann Baily

Publisher :

Page : 384 pages

File Size : 39,50 MB

Release : 2009-06-15

Category : Medical

ISBN :

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Book Description

D., University of Washington--Mary Anderlik Majumder, Baylor College of Medicine "American Journal of Human Genetics"



Fertility and Reproductive Outcomes in Different Forms of Congenital Adrenal Hyperplasia

Author : M. Eda Ertorer

Publisher : Springer Nature

Page : 157 pages

File Size : 13,85 MB

Release : 2021-09-28

Category : Medical

ISBN : 3030825914

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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.



Pediatric Gynecology

Author : Ahmed H. Al-Salem

Publisher : Springer Nature

Page : 482 pages

File Size : 40,15 MB

Release : 2020-09-29

Category : Medical

ISBN : 3030499847

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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.



Endocrine Hypertension

Author : Karel Pacak

Publisher :

Page : 0 pages

File Size : 46,10 MB

Release : 2002

Category : Adrenal Gland Neoplasms

ISBN : 9781573314183

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Book Description

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.



Newborn Screening for Pompe Disease

Author : Wuh-Liang Hwu

Publisher : MDPI

Page : 146 pages

File Size : 21,99 MB

Release : 2021-09-02

Category : Science

ISBN : 3036505806

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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.



Cases in Pediatric Acute Care

Author : Andrea Kline-Tilford

Publisher : John Wiley & Sons

Page : 528 pages

File Size : 33,40 MB

Release : 2020-03-30

Category : Medical

ISBN : 111956820X

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Book Description

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.



Developmental Endocrinology

Author : Erica A. Eugster

Publisher : Springer Science & Business Media

Page : 721 pages

File Size : 40,15 MB

Release : 2002-03-04

Category : Medical

ISBN : 1592591566

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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.