Biomarkers In Inborn Errors Of Metabolism

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Biomarkers In Inborn Errors Of Metabolism

Author : Uttam Garg
ISBN : 9780128029183
Genre : Medical
File Size : 81.16 MB
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Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism Offers guidance on how to distinguish acquired causes from inborn errors of metabolism
Category: Medical

Biomarkers

Author : Vishal S. Vaidya
ISBN : 9780470452240
Genre : Science
File Size : 39.92 MB
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This book provides an introduction to the field of biomarkers, how they have been and can be used, and how different approaches can be used to identify, characterize, and monitor biomarkers. The book has chapters on topics including HIV, Cancer, Parkinson’s, vascular injury, environmental exposure. A following section discusses the technologies (diagnostics and assays) to detect biomarkers and authors have emphasized the preclinical and clinical manifestation of the injury/disease process.
Category: Science

Cardiac Biomarkers In Clinical Practice

Author : James L. Januzzi
ISBN : 9780763761615
Genre : Medical
File Size : 52.92 MB
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Cardiac Biomarkers in Clinical Practice was just honored with 4 Stars from Doody's Book Review! Cardiac Biomarkers in Clinical Practice presents a case based approach to biomarkers in heart diseases including heart failure, ischemic heart disease, and outpatient. Divided into six sections, this book provides physicians and other health care providers with a clear understanding of the role of biomarkers in clinical cardiovascular medicine.
Category: Medical

Targeted Biomarker Quantitation By Lc Ms

Author : Naidong Weng
ISBN : 9781119103066
Genre : Medical
File Size : 39.89 MB
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The first book to offer a blueprint for overcoming the challenges to successfully quantifying biomarkers in living organisms The demand among scientists and clinicians for targeted quantitation experiments has experienced explosive growth in recent years. While there are a few books dedicated to bioanalysis and biomarkers in general, until now there were none devoted exclusively to addressing critical issues surrounding this area of intense research. Targeted Biomarker Quantitation by LC-MS provides a detailed blueprint for quantifying biomarkers in biological systems. It uses numerous real-world cases to exemplify key concepts, all of which were carefully selected and presented so as to allow the concepts they embody to be easily expanded to future applications, including new biomarker development. Targeted Biomarker Quantitation by LC-MS primarily focuses on the assay establishment for biomarker quantitation—a critical issue rarely treated in depth. It offers comprehensive coverage of three core areas of biomarker assay establishment: the relationship between the measured biomarkers and their intended usage; contemporary regulatory requirements for biomarker assays (a thorough understanding of which is essential for producing a successful and defendable submission); and the technical challenges of analyzing biomarkers produced inside a living organism or cell. Covers the theory of and applications for state-of-the-art mass spectrometry and chromatography and their applications in biomarker analysis Features real-life examples illustrating the challenges involved in targeted biomarker quantitation and the innovative approaches which have been used to overcome those challenges Addresses potential obstacles to obtain effective biomarker level and data interpretation, such as specificity establishment and sample collection Outlines a tiered approach and fit-for-purpose assay protocol for targeted biomarker quantitation Highlights the current state of the biomarker regulatory environment and protocol standards Targeted Biomarker Quantitation by LC-MS is a valuable resource for bioanalytical scientists, drug metabolism and pharmacokinetics scientists, clinical scientists, analytical chemists, and others for whom biomarker quantitation is an important tool of the trade. It also functions as an excellent text for graduate courses in pharmaceutical, biochemistry, and chemistry.
Category: Medical

Laboratory Medicine In India An Issue Of Clinics In Laboratory Medicine E Book

Author : T. F. Ashavaid
ISBN : 9781455744121
Genre : Medical
File Size : 47.99 MB
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This issue of Clinics in Laboratory Medicine on the topic of Laboratory Medicine in India will be Guest Edited by Tester F. Ashavaid, PhD, FACB, CSCi, and include the following article topics: Tuberculosis; Malaria; STIs and Dengue; Visceral Leishmaniasis; Neglected Tropical Diseases; Hepatitis; HIV; Diabetes; Cardiovascular diseases; Stroke; HPV / Cervical screening; Multiple congenital anomalies; Down Syndrome/Thalessemia; Muscle dystrophy; Spinal muscular atrophy; Wilson Disease; Hemophilia; National and International Accreditation; Blood Banking regulations; Distant Testing; Clinical Trials; Medical Tourism; International Reference labs; and Diagnostics in diet.
Category: Medical

Inborn Errors Of Metabolism New Insights For The Healthcare Professional 2012 Edition

Author :
ISBN : 9781464989568
Genre : Medical
File Size : 53.47 MB
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Inborn Errors of Metabolism: New Insights for the Healthcare Professional / 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Inborn Errors of Metabolism in a compact format. The editors have built Inborn Errors of Metabolism: New Insights for the Healthcare Professional / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Inborn Errors of Metabolism in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Inborn Errors of Metabolism: New Insights for the Healthcare Professional / 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Category: Medical

Application Of Biomarkers In Cancer Epidemiology

Author : P. Toniolo
ISBN : UCSD:31822023126550
Genre : Medical
File Size : 39.82 MB
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Biomarkers have many useful applications in cancer prevention and public health; particularly in the monitoring of exposure to hazardous substances in identifying individuals at increased risk of dsease and in risk assessment at the population level. Th
Category: Medical

Advances In Inborn Errors Amino Acid Metabolism Research And Treatment 2011 Edition

Author :
ISBN : 9781464955808
Genre : Medical
File Size : 81.75 MB
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Advances in Inborn Errors Amino Acid Metabolism Research and Treatment: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Inborn Errors Amino Acid Metabolism in a compact format. The editors have built Advances in Inborn Errors Amino Acid Metabolism Research and Treatment: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Inborn Errors Amino Acid Metabolism in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Advances in Inborn Errors Amino Acid Metabolism Research and Treatment: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Category: Medical

Pattern Recognition In Bioinformatics

Author : Madhu Chetty
ISBN : 9783540884347
Genre : Science
File Size : 25.93 MB
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In the post-genomic era, a holistic understanding of biological systems and p- cesses,inalltheircomplexity,is criticalincomprehendingnature’schoreography of life. As a result, bioinformatics involving its two main disciplines, namely, the life sciences and the computational sciences, is fast becoming a very promising multidisciplinary research ?eld. With the ever-increasing application of lar- scalehigh-throughputtechnologies,suchasgeneorproteinmicroarraysandmass spectrometry methods, the enormous body of information is growing rapidly. Bioinformaticians are posed with a large number of di?cult problems to solve, arising not only due to the complexities in acquiring the molecular infor- tion but also due to the size and nature of the generated data sets and/or the limitations of the algorithms required for analyzing these data. Although the ?eld of bioinformatics is still in its embryonic stage, the recent advancements in computational and information-theoretic techniques are enabling us to c- ductvariousinsilicotestingandscreeningofmanylab-basedexperimentsbefore these are actually performed in vitro or in vivo. These in silico investigations are providing new insights for interpretation and establishing a new direction for a deeper understanding. Among the various advanced computational methods currently being applied to such studies, the pattern recognition techniques are mostly found to be at the core of the whole discovery process for apprehending the underlying biological knowledge. Thus, we can safely surmise that the - going bioinformatics revolution may, in future, inevitably play a major role in many aspects of medical practice and/or the discipline of life sciences.
Category: Science

Biomarkers Genetics And Cancer

Author : Hoda Anton-Guirgis
ISBN : UOM:39015009579973
Genre : Biochemical markers
File Size : 28.11 MB
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Category: Biochemical markers

Development Of Biochemical Assays For The Screening Diagnosis And Prognosis Of Treatable Inborn Errors Of Metabolism

Author : Xinying Hong
ISBN : OCLC:1196344117
Genre :
File Size : 23.10 MB
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Inborn errors of metabolism (IEM) are a phenotypically and genetically heterogenous group of disorders caused by defective enzymes, cofactors or transporters in metabolic pathways, which lead to dysfunctional metabolism and/or the accumulation of toxic intermediate metabolites. Although individually rare, they are common as a group with a combined incidence rate of 1 in 800. A subset of these disorders have viable treatments and novel therapies are being developed at rapid pace for an increasing number of IEM. However, to achieve the optimal therapeutic outcome, it is essential to initiate treatments prior to the onset of irreversible symptoms. Therefore, treatable inborn errors of metabolism are excellent candidates for newborn screening program, which is a broad public health prevention program that aims at identifying a number of conditions for which early intervention can reduce premature mortality and morbidity. Tandem mass spectrometry (MS/MS) is the most comprehensive platform for quantifying enzymatic function and biomarkers in dried blood spots (DBS), which are the sample specimens used in newborn screening programs. An enormous effort has been made to develop high-throughput and robust MS/MS-based biochemical assays for newborn screening. Herein, we report (1) a liquid chromatography MS/MS (LC-MS/MS) assay to improve the current screening test for classic galactosemia; (2) a multiplexed ultra-performance liquid chromatography MS/MS (UPLC-MS/MS) assay for the screening of 18 IEM; (3) a large-scale study to investigate the feasibility of newborn screening of metachromatic leukodystrophy (MLD). Apart from these biochemical assays for screening purposes, a high-performance diagnostic test for MLD was developed. To better understand the clinical outcomes of the MLD-related variants, a transient gene expression system was designed to study these variants systematically.
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Pediatric Endocrinology And Inborn Errors Of Metabolism

Author : Kyriakie Sarafoglou
ISBN : NWU:35558005684457
Genre : Medical
File Size : 54.46 MB
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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
Category: Medical

The Handbook Of Metabonomics And Metabolomics

Author : John C. Lindon
ISBN : 0080468004
Genre : Science
File Size : 24.75 MB
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Molecular biology operates at three levels – genes, proteins and metabolites. This book is unique in that it provides a comprehensive description of an approach (metabonomics) to characterise the endogenous metabolites in a living system, complementing gene and protein studies (genomics and proteomics). These "omics" methods form the basis for understanding biology at a systems level. The Handbook of Metabonomics and Metabolomics aims to be the definitive work on the rapidly expanding subjects of metabolic profiling, metabolite and biomarker identification, encompassing the fields of metabonomics and metabolomics. It covers the principles of the subject, the analytical and statistical techniques used and the wide variety of applications. * comprehensive description of an approach (metabonomics) to characterise the endogenous metabolites in a living system, complementing gene and protein studies * aims to be the definitive work on the rapidly expanding subjects of metabolic profiling, metabolite and biomarker identification * covers the principles of the subject, the analytical and statistical techniques used and the wide variety of applications.
Category: Science

Pharmacology And Physiology For Anesthesia E Book

Author : Hugh C. Hemmings
ISBN : 9781455737932
Genre : Medical
File Size : 33.73 MB
Format : PDF, Kindle
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Better understand the complexities of pharmacology and physiology relevant to your practice with the brand-new medical reference book, Pharmacology and Physiology for Anesthesia. Drs. Hugh Hemmings and Talmage Egan provide the clinical insights you need to effectively administer anesthesia, ensuring patient safety and the most optimal outcomes. Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. Access comprehensive, continually updated research on the physiology of organ systems and clinical topics in the pharmacology of anesthetic drugs. Quickly and easily reference the information you need through user-friendly tables, figures, and algorithms, all presented in lavish full color throughout. Understand the molecular mechanism of drug actions and identify key drug interactions that may complicate anesthesia with dedicated sections on these key areas.
Category: Medical

Imaging Of White Matter An Issue Of Radiologic Clinics Of North America

Author : Sangam Kanekar
ISBN : 9780323287210
Genre : Medical
File Size : 29.80 MB
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White matter lesions have been always challenging for general as well as neuroradiologits. Any disease process in the brain or body can affect white matter, making it very difficult to pinpoint the diagnosis. However the application of the proper algorithmic approach, pattern of distribution, and study of the morphology of these lesions makes it possible to limit the differential diagnosis and, many times, pinpoint specific diagnosis. Advancement of various imaging techniques predominately in MR (MR spectroscopy, MR perfusion, diffusion tensor imaging (DTI). functional MR) along with PET has further improved our understanding of these disease processes. However, most of these techniques are new and not well understood by every physician. This issue will cover the topics necessary to master these techniques.
Category: Medical

Methodologies For Metabolomics

Author : Norbert W. Lutz
ISBN : 9781139619059
Genre : Medical
File Size : 28.21 MB
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Metabolomics, the global characterisation of the small molecule complement involved in metabolism, has evolved into a powerful suite of approaches for understanding the global physiological and pathological processes occurring in biological organisms. The diversity of metabolites, the wide range of metabolic pathways and their divergent biological contexts require a range of methodological strategies and techniques. Methodologies for Metabolomics provides a comprehensive description of the newest methodological approaches in metabolomic research. The most important technologies used to identify and quantify metabolites, including nuclear magnetic resonance and mass spectrometry, are highlighted. The integration of these techniques with classical biological methods is also addressed. Furthermore, the book presents statistical and chemometric methods for evaluation of the resultant data. The broad spectrum of topics includes a vast variety of organisms, samples and diseases, ranging from in vivo metabolomics in humans and animals to in vitro analysis of tissue samples, cultured cells and biofluids.
Category: Medical