biomarkers in inborn errors of metabolism

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Biomarkers in Inborn Errors of Metabolism
Author : Uttam Garg,Laurie D. Smith
Publisher : Elsevier
Release Date : 2017-06-07
ISBN 10 : 0128029188
Pages : 476 pages

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

Inborn Metabolic Diseases
Author : John Fernandes,Jean-Marie Saudubray,Georges van den Berghe
Publisher : Springer Science & Business Media
Release Date : 2013-03-14
ISBN 10 : 3662031477
Pages : 443 pages

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.

Laboratory Diagnosis
Author : Uttam Garg,Laurie D. Smith,Bryce A. Heese
Publisher : AACC Press
Release Date : 2012
ISBN 10 : 9781594251405
Pages : 252 pages

Author : Jeevan Prasain
Publisher : BoD – Books on Demand
Release Date : 2016-12-28
ISBN 10 : 9535128531
Pages : 216 pages

Metabolomics: Fundamentals and Applications authoritatively presents the basic principles and applications of metabolomics. Topics covered in this book range from the analysis of metabolites from different biological sources and their data processing and statistical analysis. This book serves as a basic guide for a wide range of audiences from less familiar with metabolomics techniques to more experienced researchers seeking to understand complex biological systems from the systems biology approach.

Examining Special Nutritional Requirements in Disease States
Author : National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Food and Nutrition Board
Publisher : National Academies Press
Release Date : 2018-09-22
ISBN 10 : 0309478375
Pages : 150 pages

The amount of nutrients required by an individual is determined by a number of physiological processes, including absorption, metabolism, stability, and bio-activation. These processes determine nutrient needs and provide variations in requirements in the population. All have modifiers and sensitizers, such as sex, genetics, pregnancy, age, pharmaceuticals, toxins, food matrix, and epigenetics. Disease can also be a major modifier of these processes. In April 2018, the National Academies of Science, Engineering and Medicine convened a workshop in order to explore the evidence for special nutritional requirements in disease states and the medical conditions that cannot be met with a normal diet. Participants explored the impact a disease state can have on nutrient metabolism and nutritional status, and attempted to close informational gaps. This publication summarizes the presentations and discussions from the workshop.

Clinical Metabolomics
Author : Martin Giera
Publisher : N.A
Release Date : 2018
ISBN 10 : 9781493975921
Pages : 389 pages

This detailed volume presents a comprehensive compendium of clinical metabolomics protocols covering LC-MS, GC-MS, CE-MS, and NMR-based clinical metabolomics as well as bioinformatics and study design considerations. The methodologies explored here form the core of several very promising initiatives evolving around personalized health care and precision medicine, which can be seen as complimentary to the field of clinical chemistry and aid the aforementioned field with novel disease markers and diagnostic patterns. Written for the highly successful Methods in Molecular Biology series, chapters include brief introductions to their topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls.uthoritative and practical, Clinical Metabolomics: Methods and Protocols aims to serve as the basis for successful communication between scientists from several fields, including chemists, biologist, bioinformaticians, and clinicians, ultimately leading to effective study design and completion.

Fabry Disease
Author : Deborah Elstein,Gheona Altarescu,Michael Beck
Publisher : Springer Science & Business Media
Release Date : 2010-08-02
ISBN 10 : 9789048190331
Pages : 512 pages

Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader.

Clinical Chemistry, Immunology and Laboratory Quality Control
Author : Amitava Dasgupta,Amer Wahed
Publisher : Academic Press
Release Date : 2013-12-02
ISBN 10 : 0124079350
Pages : 504 pages

All pathology residents must have a good command of clinical chemistry, toxicology, immunology, and laboratory statistics to be successful pathologists, as well as to pass the American Board of Pathology examination. Clinical chemistry, however, is a topic in which many senior medical students and pathology residents face challenges. Clinical Chemistry, Immunology and Laboratory Quality Control meets this challenge head on with a clear and easy-to-read presentation of core topics and detailed case studies that illustrate the application of clinical chemistry knowledge to everyday patient care. This basic primer offers practical examples of how things function in the pathology clinic as well as useful lists, sample questions, and a bullet-point format ideal for quick pre-Board review. While larger textbooks in clinical chemistry provide highly detailed information regarding instrumentation and statistics, this may be too much information for students, residents, and clinicians. This book is designed to educate senior medical students, residents, and fellows, and to "refresh" the knowledge base of practicing clinicians on how tests are performed in their laboratories (i.e., method principles, interferences, and limitations). Takes a practical and easy-to-read approach to understanding clinical chemistry and toxicology Covers all important clinical information found in larger textbooks in a more succinct and easy-to-understand manner Covers essential concepts in instrumentation and statistics in such a way that fellows and clinicians understand the methods without having to become specialists in the field Includes chapters on drug-herb interaction and pharmacogenomics, topics not covered by textbooks in the field of clinical chemistry or laboratory medicine

Genetic Epidemiology of Cancer
Author : Henry T. Lynch,Takeshi Hirayama
Publisher : CRC Press
Release Date : 1989-06-30
ISBN 10 : 9780849367564
Pages : 376 pages

This multi-authored book provides a unique accounting of the cancer problem from the standpoint of those primary genetic factors which may be interacting with myriad environmental exposures in cancer etiology. It provides a comprehensive coverage of cancer of all anatomical sites in conjunction with a genetic/environmental thrust. It includes a survey chapter dealing with the role of primary genetic factors in cancer of differing anatomic sites and a similar comprehensive survey chapter tracing the history of epidemiology, with focus upon multiple anatomic sites, including classical epidemiologic cancer models such as cigarette smoking, asbestos, vinyl chloride, and uranium exposure. Chapters are devoted to tumor biomarkers and their applicability to cancer of multiple anatomic sites. Clinical correlation will involve surveillance/management programsand focus on high-risk groups-such as those involving primary genetic or environmental factors and/or their interaction. The development of registries involving families with differing hereditary cancer syndromes are considered. Also, many chapters are devoted to environmental protective measures, as well as the need for more responsibility for coverage of patients at inordinately high risk for cancer by third party carriers. Other chapters address segregation and linkage analysis, oncogenes, cytogenetics, and other biomarkers. This book will be of interest to general clinicians, oncologists, surgeons, geneticists, and carcinogenesis investigators.

Inborn Errors of Metabolism
Author : Brendan Lee,Fernando Scaglia
Publisher : Oxford University Press (UK)
Release Date : 2014-10-13
ISBN 10 : 0199797587
Pages : 366 pages

Texts on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of Metabolism is an expansion on this model, 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 volume includes coverage of newborn screenings and an overarching treatment of IEMs as complex diseases -- how basic alterations can lead to complex secondary and tertiary effects in metabolism that contribute to increasingly recognized natural histories of disease.

Author : Vladimir Kalinin
Publisher : BoD – Books on Demand
Release Date : 2016-10-12
ISBN 10 : 9535126989
Pages : 278 pages

Epilepsy seems to represent one of the most frequent neurological diseases and occurs in about 1% of the general population. Although epilepsy is known since antiquity, the precise data on its pathogenesis and effective treatment are still collected and nowadays represents an interest for neurologists and psychiatrists. Being a neurological disease, epilepsy is characterized by a broad palette of comorbid psychiatric disorders (affective and anxiety disorders, psychoses) that reduce the quality of life. Moreover, the risk of suicidal attempts in persons with epilepsy is much higher than in general population that once again increases the actuality of epilepsy research in many aspects. The book contains 13 chapters written by different authors from all over the world on different topics, including phenomenology, pathogenesis, and treatment in epilepsy. The modern data on these topics may be helpful for many specialists in the domain of epileptology.

Liver Disease in Children
Author : Frederick J. Suchy,Ronald J. Sokol,William F. Balistreri
Publisher : Cambridge University Press
Release Date : 2014-02-20
ISBN 10 : 1107729092
Pages : 752 pages

The fourth edition of this authoritative text covers every aspect of liver disease affecting infants, children and adolescents. As in the previous editions, it offers an integrative approach to the science and clinical practice of pediatric hepatology and charts the substantial progress in understanding and treating these diseases. All of the chapters are written by international experts and address the unique pathophysiology, manifestations and management of these disorders. This edition of the landmark text features extended coverage of viral hepatitis, metabolic liver disease, fatty liver disease and liver transplantation, including a new chapter on post-transplant care and outcomes. All of the chapters have been updated to reflect changing epidemiology and recent advances in molecular medicine and genomics. With the continued evolution of pediatric hepatology as a discipline, this text remains an essential reference for all physicians involved in the care of children with liver disease.