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American Academy of Pediatrics Textbook of Pediatric Care
Author: Jane Meschan Foy
Publisher:
Published: 2016-03-31
Total Pages: 0
ISBN-13: 9781581109665
DOWNLOAD EBOOK →The definitive manual of pediatric medicine - completely updated with 75 new chapters and e-book access.
Unexplained Pediatric Deaths
Author: Elizabeth Bundock
Publisher:
Published: 2019-11-08
Total Pages:
ISBN-13: 9780998904320
DOWNLOAD EBOOK →This publication reviews medicolegal investigation of sudden, unexpected pediatric deaths, focusing on systems and procedures in the United States and those deaths which remain incompletely understood or entirely unexplained. It discusses the evolution of our understanding and practice in the area of sudden, unexpected pediatric death investigation, covering the changing philosophies and medical theories as to causation and changing investigative and certification strategies. Procedural guidance for investigation, autopsy and ancillary testing, certification and reporting, and key considerations for prevention, research and working with family members and other professional team members are provided.The path to production of this publication began in 2016 when the National Association of Medical Examiners received a scientific grant from the SUDC Foundation called "Sudden Death in Pediatrics: Consensus for Investigation, Certification, Research Direction and Family Needs" to convene, in collaboration with the American Academy of Pediatrics, an expert panel to identify and discuss the diverse issues and limitations surrounding these deaths and build a foundation for national consensus. The combined effort of a panel of medical examiners, pediatricians, and federal agency representatives, representing the diverse interests of death investigation, autopsy performance, certification, clinical subspecialties (pediatrics, neurology, cardiology, child abuse, injury prevention, infectious diseases, genetics, and metabolic diseases), family needs, prevention, and epidemiology, culminated in this publication.
Inherited Metabolic Diseases
Author: Georg F. Hoffmann
Publisher: Springer Science & Business Media
Published: 2009-11-21
Total Pages: 380
ISBN-13: 3540747230
DOWNLOAD EBOOK →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.
Saving Babies?
Author: Stefan Timmermans
Publisher: University of Chicago Press
Published: 2015-05-06
Total Pages: 320
ISBN-13: 022627361X
DOWNLOAD EBOOK →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
Genetic Screening for Inborn Errors of Metabolism
Inborn Errors of Metabolism
Author: Brendan Lee
Publisher: Oxford Monographs on Medical G
Published: 2014-10-13
Total Pages: 393
ISBN-13: 0199797587
DOWNLOAD EBOOK →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.
Challenges and Opportunities in Using Residual Newborn Screening Samples for Translational Research
Author: Institute of Medicine
Publisher: National Academies Press
Published: 2010-11-23
Total Pages: 85
ISBN-13: 0309177138
DOWNLOAD EBOOK →Newborn screening samples are used to test more than 4 million infants each year for life-threatening diseases that are treatable if found at birth. These specimens also represent a potentially invaluable resource for public health and biomedical research. The IOM held a workshop to examine issues surrounding the use of residual specimens for translational research.
Newborn Screening for Inborn Errors of Metabolism
Author: Mohamed A. Elmonem
Publisher: Frontiers Media SA
Published: 2021-10-29
Total Pages: 131
ISBN-13: 2889715671
DOWNLOAD EBOOK →Neonatal Screening for Inborn Errors of Metabolism
Author: H. Bickel
Publisher: Springer Science & Business Media
Published: 2012-12-06
Total Pages: 354
ISBN-13: 3642674887
DOWNLOAD EBOOK →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.
