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Neonatal Screening
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Book Synopsis Neonatal Screening for Inborn Errors of Metabolism by : H. Bickel
Download or read book Neonatal Screening for Inborn Errors of Metabolism written by H. Bickel and published by Springer. This book was released on 2011-11-15 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Although neonatal screening was begun only 20 years ago, and is consequently still in its early stages, it is already a classic example of efficient preventive pediatrics. At present, routine neonatal screening covering a satisfactory percentage of newborn babies is carried out in only a small part ofthe world. For some five diseases enough infants have been screened to give reasonably reliable information about the frequency of these diseases in various populations. Interesting differences are beginning to appear in popula tions of different ethnic and racial background. The medical importance of neonatal screening is especially obvious in metabolic diseases that are not too rare and for which effective treatment depends upon an early diagnosis, such as phenylketonuria, galactosemia, and - a more recent screening pro gram - hypothyroidism. About 1 of 4000 newborns is affected with hypothyroidism and can receive timely substitution with thyroid hormone. Of 34.5 million babies tested for phenylketonuria, 3000 cases have been diagnosed in time to prevent mental retardation by means of dietary therapy.
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 Inborn Errors of Metabolism by : Brendan Lee
Download or read book Inborn Errors of Metabolism written by Brendan Lee and published by Oxford Monographs on Medical G. This book was released on 2014-10-13 with total page 393 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this book includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases.
Book Synopsis Saving Babies? by : Stefan Timmermans
Download or read book Saving Babies? written by Stefan Timmermans and published by University of Chicago Press. This book was released on 2015-05-06 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: Introduction: the consequences of newborn screening -- The expansion of newborn screening -- Patients-in-waiting -- Shifting disease ontologies -- Is my baby normal? -- The limits of prevention -- Does expanded newborn screening save lives? -- Conclusion: the future of expanded newborn screening
Book Synopsis Prevention of Thalassaemias and Other Haemoglobin Disorders by : Galanello Renzo
Download or read book Prevention of Thalassaemias and Other Haemoglobin Disorders written by Galanello Renzo and published by . This book was released on 2003 with total page 190 pages. Available in PDF, EPUB and Kindle. Book excerpt: Volume 1 of the Prevention Book presents the principles of a programme for the prevention of the thalassaemia and other haemoglobin disorders, including a description of the various types of disorders requiring prenatal diagnosis, the strategies used for carrier screening, and a number of annexes listing upto date epidemiological and mutation data on thalassaemia. This book was written for use in combination with Volume 2, which describes many of the laboratory protocols in great detail.
Book Synopsis Examination of the Newborn by : Anne Lomax
Download or read book Examination of the Newborn written by Anne Lomax and published by John Wiley & Sons. This book was released on 2015-08-17 with total page 265 pages. Available in PDF, EPUB and Kindle. Book excerpt: A practical, evidence-based guide for students and practitioners to undertake safe and effective neonatal examination Revised and updated throughout in line with current national and Nursing and Midwifery Council guidelines Full colour photographs and illustrations, as well as clinical case studies at the end of each chapter to help guide and illustrate good practice A new companion website (available at: www.wiley.com/go/lomax/newborn) contains a wealth of information on all aspects of examining the newborn, including safeguarding, early warning systems, and tongue tie, as well as interactive multiple choice questions, and links to videos
Book Synopsis Newborn Screening for Pompe Disease by : Wuh-Liang Hwu
Download or read book Newborn Screening for Pompe Disease written by Wuh-Liang Hwu and published by MDPI. This book was released on 2021-09-02 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis WHO Guidelines on Drawing Blood by : Neelam Dhingra
Download or read book WHO Guidelines on Drawing Blood written by Neelam Dhingra and published by . This book was released on 2010 with total page 109 pages. Available in PDF, EPUB and Kindle. Book excerpt: Phlebotomy uses large, hollow needles to remove blood specimens for lab testing or blood donation. Each step in the process carries risks - both for patients and health workers. Patients may be bruised. Health workers may receive needle-stick injuries. Both can become infected with bloodborne organisms such as hepatitis B, HIV, syphilis or malaria. Moreover, each step affects the quality of the specimen and the diagnosis. A contaminated specimen will produce a misdiagnosis. Clerical errors can prove fatal. The new WHO guidelines provide recommended steps for safe phlebotomy and reiterate accepted principles for drawing, collecting blood and transporting blood to laboratories/blood banks.
Book Synopsis Neonatal Screening for Critical Congenital Heart Defects by : Andrew Ewer
Download or read book Neonatal Screening for Critical Congenital Heart Defects written by Andrew Ewer and published by MDPI. This book was released on 2019-06-14 with total page 98 pages. Available in PDF, EPUB and Kindle. Book excerpt: Critical congenital heart defects (CCHDs) are potentially life-threatening malformations that remain a significant cause of neonatal mortality and morbidity. Failure to diagnose these conditions shortly after birth may result in acute cardiovascular collapse and death. The identification of CCHDs by routine newborn clinical examination is routine in many countries, but consistently misses over a third of cases, and, although antenatal ultrasound screening can be very effective in early diagnosis, the provision and accuracy of ultrasound screening is highly variable. As most CCHDs present with mild cyanosis (hypoxaemia), which is frequently clinically undetectable, pulse oximetry is a rapid, simple, painless method of accurately identifying hypoxaemia, which has gained popularity as a screen for CCHD. This Special Issue of the International Journal of Neonatal Screening, devoted to "Neonatal Screening for Critical Congenital Heart Defects (CCHDs)", will consider the evidence for CCHD screening with pulse oximetry, the acceptability and cost-effectiveness of this intervention, the additional non-cardiac conditions which it may also identify, and international experiences of introducing CCHD screening across the globe.
Book Synopsis The Oxford Handbook of Public Health Ethics by : Anna C. Mastroianni
Download or read book The Oxford Handbook of Public Health Ethics written by Anna C. Mastroianni and published by Oxford University Press. This book was released on 2019-07-23 with total page 939 pages. Available in PDF, EPUB and Kindle. Book excerpt: Natural disasters and cholera outbreaks. Ebola, SARS, and concerns over pandemic flu. HIV and AIDS. E. coli outbreaks from contaminated produce and fast foods. Threats of bioterrorism. Contamination of compounded drugs. Vaccination refusals and outbreaks of preventable diseases. These are just some of the headlines from the last 30-plus years highlighting the essential roles and responsibilities of public health, all of which come with ethical issues and the responsibilities they create. Public health has achieved extraordinary successes. And yet these successes also bring with them ethical tension. Not all public health successes are equally distributed in the population; extraordinary health disparities between rich and poor still exist. The most successful public health programs sometimes rely on policies that, while improving public health conditions, also limit individual rights. Public health practitioners and policymakers face these and other questions of ethics routinely in their work, and they must navigate their sometimes competing responsibilities to the health of the public with other important societal values such as privacy, autonomy, and prevailing cultural norms. This Oxford Handbook provides a sweeping and comprehensive review of the current state of public health ethics, addressing these and numerous other questions. Taking account of the wide range of topics under the umbrella of public health and the ethical issues raised by them, this volume is organized into fifteen sections. It begins with two sections that discuss the conceptual foundations, ethical tensions, and ethical frameworks of and for public health and how public health does its work. The thirteen sections that follow examine the application of public health ethics considerations and approaches across a broad range of public health topics. While chapters are organized into topical sections, each chapter is designed to serve as a standalone contribution. The book includes 73 chapters covering many topics from varying perspectives, a recognition of the diversity of the issues that define public health ethics in the U.S. and globally. This Handbook is an authoritative and indispensable guide to the state of public health ethics today.
Book Synopsis Examination of the Newborn by : Helen Baston
Download or read book Examination of the Newborn written by Helen Baston and published by Routledge. This book was released on 2010-06-23 with total page 256 pages. Available in PDF, EPUB and Kindle. Book excerpt: Newborn babies are examined within the first 6 to 72 hours after their birth to rule out major congenital abnormalities and reassure the parents that their baby is healthy. This practical text is a step-by-step guide for all practitioners who undertake this clinical examination. It is particularly valuable for midwives and nurses taking Examination of the Newborn modules as well as a useful reference work for those already performing this role. It provides midwives and other practitioners with a comprehensive guide to the holistic examination of the newborn infant. Examination of the Newborn encourages the reader to view each mother and baby as unique, taking into account their experiences preconceptually, antenatally and through childbirth. The text covers: role of the first examination as a screening tool normal fetal development parents' concerns and how to respond to them the impact of antenatal diagnostic screening the events of labour and birth the clinical examination of the neonate the identification and management of congenital abnormalities accountability and legal issues. This new edition is thoroughly revised throughout to meet current Nursing and Midwifery Council (NMC) and National Screening Committee standards. It includes a new chapter on the context and effectiveness of the examination and increased coverage of the impact of intrapartum management on the newborn, including fetal monitoring, place of birth, mode of birth and pain relief. Case scenarios, model answers, questions and further reading help the reader to apply the content to their own practice.
Book Synopsis Equine Reproductive Procedures by : John Dascanio
Download or read book Equine Reproductive Procedures written by John Dascanio and published by John Wiley & Sons. This book was released on 2014-06-23 with total page 578 pages. Available in PDF, EPUB and Kindle. Book excerpt: Equine Reproductive Procedures is a user-friendly guide to reproductive management, diagnostic techniques, and therapeutic techniques on stallions, mares, and foals. Offering detailed descriptions of 161 procedures ranging from common to highly specialized, the book gives step-by-step instructions with interpretative information, as well as useful equipment lists and references for further reading. Presented in a highly portable spiral-bound format, Equine Reproductive Procedures is a practical resource for daily use in equine practice. Divided into sections on the non-pregnant mare, the pregnant mare, the postpartum mare, the stallion, and the newborn foal, the book is well-illustrated throughout with clinical photographs demonstrating procedures. Equine Reproductive Procedures provides practical guidance for performing basic and advanced techniques associated with the medical management of horses.
Book Synopsis Inborn Metabolic Diseases by : K. Tada
Download or read book Inborn Metabolic Diseases written by K. Tada and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.
Book Synopsis Early-onset Neonatal Sepsis by : Karen D. Fairchild
Download or read book Early-onset Neonatal Sepsis written by Karen D. Fairchild and published by . This book was released on 2010 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Neonatal Thyroid Screening by : Gerard N. Burrow
Download or read book Neonatal Thyroid Screening written by Gerard N. Burrow and published by Raven Press (ID). This book was released on 1980 with total page 346 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Screening of Newborns for Congenital Hypothyroidism by : Bradford L. Therrell
Download or read book Screening of Newborns for Congenital Hypothyroidism written by Bradford L. Therrell and published by IAEA. This book was released on 2005 with total page 144 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Pediatric Endocrinology and Inborn Errors of Metabolism by : Kyriakie Sarafoglou
Download or read book Pediatric Endocrinology and Inborn Errors of Metabolism written by Kyriakie Sarafoglou and published by McGraw Hill Professional. This book was released on 2012-09-01 with total page 966 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fast, crystal-clear guidance on managing both pediatric endocrine disorders and inborn errors of metabolism A Doody's Core Title for 2011! New England Journal of Medicine Review! "...an inspiring learning tool....Sarafoglou and colleagues have combined their expertise to create an informative and timely textbook in which the explanations of underlying mechanisms guide the structure of each chapter. It is a unique book that is pleasing to the eye, nurturing for the mind, and instructive for a broad readership."--New England Journal of Medicine 4 STAR DOODY'S REVIEW! "The book covers various pathophysiologic aspects of each endocrine organ and its interaction with other endocrine and nonendocrine systems. Disorders of thyroid and adrenal glands, pituitary, reproductive organs, and endocrine neoplasia are extensively covered. Most large groups of metabolic diseases are reviewed as well. Concise, pertinent information is provided on mitochondrial and fatty-acid oxidation, urea cycle and glycogen storage disorders, as well as organic acidurias and amino acidopathies. The most useful and user-friendly areas are the 1-to-2-page "at-a-glance" sections in each chapter which provide concise yet pertinent information about the disorders within a particular group of endocrine disturbances or IEM. This is a well written book and the multiple visual aids greatly assist in comprehension and memorization of the material...I strongly recommend this book without reservation." -- Doody's In one practical, user-friendly tutorial, a team of international contributors delivers the latest information and clinical insights you need to confidently diagnose and manage pediatric patients. This full-color resource guides you through the etiology, pathophysiology, presenting signs and symptoms, diagnostic laboratory examinations, and treatments regimens of each disorder. Features: Full-color presentation with numerous photos, illustrations, diagnostic algorithms, tables, and text boxes that summarize key concepts and assist in the decision-making process At-a-Glance feature beginning each disease-based chapter summarizes all the clinical information you need to differentiate between disorder sub-types in one easy-to-find place All-inclusive coverage encompasses the full spectrum of critical topics Emergency assessment and treatment chapter gives you fast, clear guidance on acute presentations of endocrine and metabolic disorders Chapter on newborn screening walks you through an abnormal screening result to follow-up diagnostic testing Complete and detailed information on all laboratory and radiographic testing used to diagnose disorders in both disciplines
