Biomarkers in Inborn Errors of Metabolism

Biomarkers in Inborn Errors of Metabolism
Author: Uttam Garg,Laurie D. Smith
Publsiher: Elsevier
Total Pages: 476
Release: 2017-06-07
Genre: Medical
ISBN: 9780128029183

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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

Newborn Screening for Inborn Errors of Metabolism

Newborn Screening for Inborn Errors of Metabolism
Author: Mohamed A. Elmonem,Lambertus Petrus Van Den Heuvel
Publsiher: Frontiers Media SA
Total Pages: 135
Release: 2021-10-29
Genre: Science
ISBN: 9782889715671

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Fabry Disease

Fabry Disease
Author: Deborah Elstein,Gheona Altarescu,Michael Beck
Publsiher: Springer Science & Business Media
Total Pages: 512
Release: 2010-08-02
Genre: Medical
ISBN: 9789048190331

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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.

Physician s Guide to the Diagnosis Treatment and Follow Up of Inherited Metabolic Diseases

Physician s Guide to the Diagnosis  Treatment  and Follow Up of Inherited Metabolic Diseases
Author: Nenad Blau,Marinus Duran,K Michael Gibson,Carlo Dionisi Vici
Publsiher: Springer
Total Pages: 867
Release: 2014-07-08
Genre: Medical
ISBN: 9783642403378

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This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.

Genetics of Bone Biology and Skeletal Disease

Genetics of Bone Biology and Skeletal Disease
Author: Rajesh V. Thakker,Michael P. Whyte,John Eisman,Takashi Igarashi
Publsiher: Academic Press
Total Pages: 634
Release: 2012-12-31
Genre: Medical
ISBN: 9780123878304

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This book identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluations of treatments. The book is aimed at all students of bone biology and genetics, and with this in mind, it includes general introductory chapters on genetics and bone biology and more specific disease-orientated chapters, which comprehensively summarize the clinical, genetic, molecular genetic, animal model, functional and molecular pathology, diagnostic, counselling and treatment aspects of each disorder. Saves academic, medical, and pharma researchers time in quickly accessing the very latest details on a broad range of genetic bone issues, as opposed to searching through thousands of journal articles. Provides a common language for bone biologists and geneticists to discuss the development of bone cells and genetics and their interactions in the development of disease Researchers in all areas bone biology and genetics will gain insight into how clinical observations and practices can feed back into the research cycle and will, therefore, be able to develop more targeted genomic and proteomic assays For those clinical researchers who are also MDs, correct diagnosis (and therefore correct treatment) of bone diseases depends on a strong understanding of the molecular basis for the disease.

Metabolomics

Metabolomics
Author: Ron Wehrens,Reza Salek
Publsiher: CRC Press
Total Pages: 276
Release: 2019-08-19
Genre: Mathematics
ISBN: 9781498725279

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Metabolomics is the scientific study of the chemical processes in a living system, environment and nutrition. It is a relatively new omics science, but the potential applications are wide, including medicine, personalized medicine and intervention studies, food and nutrition, plants, agriculture and environmental science. The topics presented and discussed in this book are based on the European Molecular Biology Organization (EMBO) practical courses in metabolomics bioinformatics taught to those working in the field, from masters to postgraduate students, PhDs, postdoctoral and early PIs. The book covers the basics and fundamentals of data acquisition and analytical technologies, but the primary focus is data handling and data analysis. The mentioning and usage of a particular data analysis tool has been avoided; rather, the focus is on the concepts and principles of data processing and analysis. The material has been class-tested and includes lots of examples, computing and exercises. Key Features: Provides an overview of qualitative /quantitative methods in metabolomics Offers an introduction to the key concepts of metabolomics, including experimental design and technology Covers data handling, processing, analysis, data standards and sharing Contains lots of examples to illustrate the topics Includes contributions from some of the leading researchers in the field of metabolomics with extensive teaching experiences

Pattern Recognition in Bioinformatics

Pattern Recognition in Bioinformatics
Author: Madhu Chetty,Alioune Ngom,Shandar Ahmad
Publsiher: Springer Science & Business Media
Total Pages: 472
Release: 2008-09-29
Genre: Science
ISBN: 9783540884347

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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.

Inborn Metabolic Diseases

Inborn Metabolic Diseases
Author: K. Tada,N.R.M. Buist,John Fernandes,Jean-Marie Saudubray,Georges van den Berghe
Publsiher: Springer Science & Business Media
Total Pages: 443
Release: 2013-03-14
Genre: Medical
ISBN: 9783662031476

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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.

Inherited Metabolic Diseases

Inherited Metabolic Diseases
Author: Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan
Publsiher: Springer Science & Business Media
Total Pages: 386
Release: 2009-11-21
Genre: Medical
ISBN: 9783540747239

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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.

Biomarkers

Biomarkers
Author: Vishal S. Vaidya,Joseph V. Bonventre
Publsiher: John Wiley & Sons
Total Pages: 632
Release: 2010-10-05
Genre: Science
ISBN: 9780470452240

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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.

Advances in Nephropathy

Advances in Nephropathy
Author: Thomas Rath
Publsiher: BoD – Books on Demand
Total Pages: 214
Release: 2018-10-24
Genre: Medical
ISBN: 9781789842357

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Chronic kidney disease (CKD) is a world-wide known disease affecting up to 4% of the population with increasing figures in developing countries. Life expectancy of patients affected by CKD is shortened compared to the overall population and only a minority of patients reach end stage renal disease (ESRD) with the need for dialysis or renal transplantation; death overtakes dialysis. In nine chapters, this book focuses on different aspects related to the pathophysiology and clinical aspects of CKD, providing interesting insights into new and old biomarkers, allowing us to increase diagnostic and prognostic meaningfulness. In addition, chapters deal with new developments in glomerulopathies, but also aspects of the "tubulocentric" shift will be beneficial for the open-minded reader. Nevertheless, new insights into chronic kidney disease (CKD) and acute kidney injury (AKI) are provided.

Chagas Disease

Chagas Disease
Author: Jaime Marcelo Altcheh,Hector Freilij
Publsiher: Springer Nature
Total Pages: 356
Release: 2019-09-09
Genre: Science
ISBN: 9783030000547

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Chagas disease is a potentially life threatening condition that was historically mainly endemic to Latin America. Over the last decade, however, the disease has spread to and is increasingly prevalent in other continents such as North America and Europe, with an estimated 7 million people infected worldwide. It is primarily transmitted by insect vectors that carry the parasite Trypanosoma cruzi, the disease agent. In areas where there is vector control and in non-endemic countries, it is mainly transmitted via congenital infection. Cardiac and gastrointestinal complications are common in untreated individuals. This book offers a comprehensive overview of Chagas disease, including its vectorial and congenital transmission, and molecular diagnosis, which is essential for screening, and developing and providing timely, effective anti-trypanosomal treatment. Written by experts working with infected patients on a daily basis, it discusses the pathogenesis of congenital, cardiac, gastrointestinal and oral Chagas disease, as well as its treatment and the pharmacological aspects of drug development in this area. Chapter "Chagas Disease Treatment Efficacy Biomarkers: Myths and Realities" is available open access under a via link.springer.com.

Accurate Results in the Clinical Laboratory

Accurate Results in the Clinical Laboratory
Author: Amitava Dasgupta,Jorge L. Sepulveda
Publsiher: Elsevier
Total Pages: 510
Release: 2019-07-20
Genre: Medical
ISBN: 9780128137772

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Accurate Results in the Clinical Laboratory: A Guide to Error Detection and Correction, Second Edition, provides a comprehensive review of the factors leading to errors in all areas of clinical laboratory testing. This trusted guide addresses interference issues in all laboratory tests, including patient epigenetics, processes of specimen collection, enzymes and biomarkers. Clinicians and laboratory scientists will both benefit from this reference that applies discussions to both accurate specimen analysis and optimal patient care. Hence, this is the perfect reference for clinical laboratorians, from trainees, to experienced pathologists and directors. Provides comprehensive coverage across endocrine, oncology, hematology, immunohistochemistry, immunology, serology, microbiology, and molecular testing Includes new case studies that highlight clinical relevance and errors to avoid Highlights the best titles published within a variety of medical specialties Reviewed by medical librarians and content specialists, with key selections compiled in their annual list

Targeted Biomarker Quantitation by LC MS

Targeted Biomarker Quantitation by LC MS
Author: Naidong Weng,Wenying Jian
Publsiher: John Wiley & Sons
Total Pages: 464
Release: 2017-07-31
Genre: Medical
ISBN: 9781119103066

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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.

Biochemical Testing

Biochemical Testing
Author: Anonim
Publsiher: BoD – Books on Demand
Total Pages: 172
Release: 2020-04-29
Genre: Science
ISBN: 9781789850857

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Clinical Correlation and Diagnosis highlights the improvements in methodological approaches for the purposes of disease diagnosis and health research. Chapters cover such topics as serum protein electrophoresis, urinary iodine measurement, blood collection tubes, semi-solid phase assay and advancement in analytical and bioanalytical techniques, and serological diagnostic tools for Zika virus, among other subjects. All these will not be possible without a proper laboratory management where this book also includes the Tissue Bank ATMP Production as a model. The chapters are expected to provide a new perspective in health science which may trigger a further exploration into the diagnostic and research field.