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MTHFR Polymorphisms and Disease

MTHFR Polymorphisms and Disease PDF Author: Per Magne Ueland
Publisher: CRC Press
ISBN: 1498713882
Category : Medical
Languages : en
Pages : 225

Book Description
Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme in both folate and homocysteine metabolism. It first achieved medical recognition in 1972 with the report of severe deficiency of MTHFR in a patient with homocystinuria, an inborn error of metabolism characterized by marked elevation of homocyst(e)ine in plasma and urine. Although the majority of cases of homocystinuria are due to a deficiency of the first enzyme in the transsulfuration pathway for homocysteine metabolism, cystathionine-ß-synthase (CBS), disruption of homocysteine remethylation to methionine can also result in homocystinuria. With the identification of additional patients with severe MTHFR deficiency, the heterogeneity of this disorder became manifest. This book covers many of the complex traits that have been reported to be influenced by the well-characterized 677C→T variant; there is less information on the 1298A→C variant, but it is discussed where appropriate. It is quite surprising, and unique, that a single variant should influence such a wide variety of clinical conditions.

MTHFR Polymorphisms and Disease

MTHFR Polymorphisms and Disease PDF Author: Per Magne Ueland
Publisher: CRC Press
ISBN: 1498713882
Category : Medical
Languages : en
Pages : 225

Book Description
Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme in both folate and homocysteine metabolism. It first achieved medical recognition in 1972 with the report of severe deficiency of MTHFR in a patient with homocystinuria, an inborn error of metabolism characterized by marked elevation of homocyst(e)ine in plasma and urine. Although the majority of cases of homocystinuria are due to a deficiency of the first enzyme in the transsulfuration pathway for homocysteine metabolism, cystathionine-ß-synthase (CBS), disruption of homocysteine remethylation to methionine can also result in homocystinuria. With the identification of additional patients with severe MTHFR deficiency, the heterogeneity of this disorder became manifest. This book covers many of the complex traits that have been reported to be influenced by the well-characterized 677C→T variant; there is less information on the 1298A→C variant, but it is discussed where appropriate. It is quite surprising, and unique, that a single variant should influence such a wide variety of clinical conditions.

The Metabolic & Molecular Bases of Inherited Disease

The Metabolic & Molecular Bases of Inherited Disease PDF Author: Charles R. Scriver
Publisher: New York ; Montreal : McGraw-Hill
ISBN: 9780071363198
Category : Genetic disorders
Languages : en
Pages : 6338

Book Description
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

UV Radiation in Global Climate Change

UV Radiation in Global Climate Change PDF Author: Wei Gao
Publisher: Springer Science & Business Media
ISBN: 364203313X
Category : Science
Languages : en
Pages : 565

Book Description
Numerous studies report that ultraviolet (UV) radiation is harmful to living organisms and detrimental to human health. Growing concerns regarding the increased levels of UV-B radiation that reach the earth's surface have led to the development of ground- and space-based measurement programs. Further study is needed on the measurement, modeling, and effects of UV radiation. The chapters of this book describe the research conducted across the globe over the past three decades in the areas of: (1) current and predicted levels of UV radiation and its associated impact on ecosystems and human health, as well as economic and social implications; (2) new developments in UV instrumentation, advances in calibration (ground- and satellite-based), measurement methods, modeling efforts, and their applications; and (3) the effects of global climate change on UV radiation. Dr. Wei Gao is a Senior Research Scientist and the Director of the USDA UV-B Monitoring and Research Program, Natural Resource Ecology Laboratory, Colorado State University. Dr. Gao is a SPIE fellow and serves as the Editor-in-Chief for the Journal of Applied Remote Sensing. Dr. Daniel L. Schmoldt is the National Program Leader for instrumentation and sensors at the National Institute of Food and Agriculture (NIFA) of the U.S. Department of Agriculture. Dr. Schmoldt served as joint Editor-in-Chief of the journal, Computers & Electronics in Agriculture, from 1997 to 2004. Dr. James R. Slusser retired in 2007 from the USDA UV-B Monitoring and Research Program at Colorado State University. He was active in the Society of Photo-Optical Instrumentation Engineers, the American Geophysical Union, and the American Meteorological Society. Dr. Slusser is currently pursuing his interests in solar energy and atmospheric transmission.

Homocysteine in Health and Disease

Homocysteine in Health and Disease PDF Author: Ralph Carmel
Publisher: Cambridge University Press
ISBN: 9780521653190
Category : Medical
Languages : en
Pages : 558

Book Description
This is an unusually comprehensive 2001 account of the broad range of medical implications of homocysteine.

Nutrigenomics and the Future of Nutrition

Nutrigenomics and the Future of Nutrition PDF Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
ISBN: 0309477670
Category : Medical
Languages : en
Pages : 155

Book Description
On December 5, 2017, the National Academies of Sciences, Engineering, and Medicine hosted a public workshop titled Nutrigenomics and the Future of Nutrition in Washington, DC, to review current knowledge in the field of nutrigenomics as it relates to nutrition. Workshop participants explored the influence of genetic and epigenetic expression on nutritional status and the potential impact of personalized nutrition on health maintenance and chronic disease prevention. This publication summarizes the presentations and discussions from the workshop.

Folate in Health and Disease

Folate in Health and Disease PDF Author: Lynn B. Bailey
Publisher: CRC Press
ISBN: 1420071254
Category : Medical
Languages : en
Pages : 604

Book Description
During the fifteen years since the bestselling first edition of Folate in Health and Disease was published, there have been thousands of new research studies related to folate and its role in health and disease. The second edition of the book uniquely bridges the gap between basic science and public health/clinical medicine.Presents Groundbreaking

Translational Research in Traumatic Brain Injury

Translational Research in Traumatic Brain Injury PDF Author: Daniel Laskowitz
Publisher: CRC Press
ISBN: 1498766579
Category : Medical
Languages : en
Pages : 388

Book Description
Traumatic brain injury (TBI) remains a significant source of death and permanent disability, contributing to nearly one-third of all injury related deaths in the United States and exacting a profound personal and economic toll. Despite the increased resources that have recently been brought to bear to improve our understanding of TBI, the developme

GI Epidemiology

GI Epidemiology PDF Author: Nicholas J. Talley
Publisher: John Wiley & Sons
ISBN: 047069145X
Category : Medical
Languages : en
Pages : 289

Book Description
Authoritative new text from the experts in GI populationstudies This book covers both key methodological issues and the mostimportant information in the field, disease by disease. It focuseson population-based information and studies looking at principlesand approaches to diagnosis and treatment of diseases. GI Epidemiology brings together world authorities inmultiple disciplines for the very first time, to create one clearand comprehensive source. The bulk of the chapters are divided intotwo parts, covering methodological issues and the epidemiology ofspecific GI diseases. Each chapter begins with a list of keypoints, followed by a review written in a clear and simplestyle. The methodologic chapters cover evidence-based medicine,meta-analysis, systematic reviews, genetic and molecularepidemiology, clinical trials, questionnaire design, and healtheconomics. The disease-specific chapters note the current gaps inknowledge and suggest areas for further study. GI Epidemiology serves as both a useful refresher and areliable reference on the methods and techniques used inepidemiological studies for consultants and researchers ingastroenterology. It is also an invaluable tool for fellows/trainees ingastroenterology, candidates for recertification in the combineddisciplines of gastroenterology, pediatric gastroenterology andcolorectal surgery, and anyone completing MPH training.

Textbook of Personalized Medicine

Textbook of Personalized Medicine PDF Author: Kewal K. Jain
Publisher: Humana Press
ISBN: 1493925539
Category : Medical
Languages : en
Pages : 762

Book Description
Advances in the technology used in personalized medicine and increased applications for clinical use have created a need for this expansion and revision of Kewal K. Jain’s Textbook of Personalized Medicine. As the first definitive work on this topic, this book reviews the fundamentals and development of personalized medicine and subsequent adoptions of the concepts by the biopharmaceutical industry and the medical profession. It also discusses examples of applications in key therapeutic areas, as well as ethical and regulatory issues, providing a concise and comprehensive source of reference for those involved in healthcare management, planning and politics. Algorithms are included as a guide to those involved in the management of important diseases where decision-making is involved due to the multiple choices available. Textbook of Personalized Medicine, Second Edition will serve as a convenient source of information for physicians, scientists, decision makers in the biopharmaceutical and healthcare industries and interested members of the public.

Integrative Preventive Medicine

Integrative Preventive Medicine PDF Author: Richard H. Carmona
Publisher: Oxford University Press
ISBN: 019024125X
Category : Medical
Languages : en
Pages : 585

Book Description
For most clinicians, the science and evidence for many integrative therapies is largely unknown or considered suspect. Most physicians don't have time to learn integrative approaches and aren't sure what to recommend or which approaches have merit or improved outcomes. In Integrative Preventive Medicine, clinicians have easy access to the best practices in integrative medicine and expectations for outcomes. The current state of the science is also presented. Authors are leaders in their fields, with decades of expertise and leadership in their fields.