Current Strategies For The Biochemical Diagnosis And Monitoring Of Mitochondrial Disease
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Current Strategies For The Biochemical Diagnosis And Monitoring Of Mitochondrial Disease
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Author : Iain P. Hargreaves
language : en
Publisher: MDPI
Release Date : 2018-10-16
Current Strategies For The Biochemical Diagnosis And Monitoring Of Mitochondrial Disease written by Iain P. Hargreaves and has been published by MDPI this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-10-16 with Electronic books categories.
This book is a printed edition of the Special Issue "Current Strategies for the Biochemical Diagnosis and Monitoring of Mitochondrial Disease" that was published in JCM
Current Strategies For The Biochemical Diagnosis And Monitoring Of Mitochondrial Disease
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Author : Iain Hargreaves
language : en
Publisher:
Release Date : 2018
Current Strategies For The Biochemical Diagnosis And Monitoring Of Mitochondrial Disease written by Iain Hargreaves and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018 with categories.
Mitochondrial disease constitutes a complex and heterogeneous group of disorders resulting from a defect in mitochondrial respiratory chain (MRC) enzyme activity. In view of the dual regulation of the MRC, exercised by both the mitochondrial and nuclear genome, mutations in either mitochondrial or nuclear DNA can result in a MRC deficiency. Whilst a single organ can be affected, MRC disorders often result in a multi-organ system presentation with prominent neurological and myopathic features. The diagnosis of MRC disorders can be complex, and requires a coordinated interplay of a number of disciplines. However, biochemical determination of metabolites in blood, cerebral spinal fluid (CSF) and/or urine are generally considered to be first-line investigations for the diagnosis of these disorders, although they lack sensitivity and specificity. Furthermore, there is a lack of consensus on the overall utility of monitoring other biochemical parameters, which may be of diagnostic value. For example, although oxidative stress may contribute to the pathogenesis of mitochondrial disorders, few centers monitor this as part of their diagnostic repertoire. Therefore, the purpose of this Special Issue was to highlight potential biomarkers of mitochondrial disease and to discuss the appropriateness of biochemical markers to monitor disease progression and therapeutic intervention.
Clinical Mitochondrial Medicine
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Author : Patrick F. Chinnery
language : en
Publisher: Cambridge University Press
Release Date : 2018-05-17
Clinical Mitochondrial Medicine written by Patrick F. Chinnery and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-05-17 with Medical categories.
This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.
Mitochondrial Medicine
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Author : Salvatore DiMauro
language : en
Publisher: CRC Press
Release Date : 2006-04-19
Mitochondrial Medicine written by Salvatore DiMauro and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2006-04-19 with Medical categories.
Mitochondrial dysfunction is increasingly being recognized as the basis of a wide variety of human diseases. Providing an authoritative update on our current knowledge of mitochondrial medicine, this text draws together world authorities from various fields to present general therapeutic strategies, as well as the treatments presently available in different specialties - thus making it essential reading for clinicians involved with the management of patients with mitochondrial diseases. A unique work, this text covers a range of specialties, including cardiology, ophthalmology, otology, nephrology, gastroenterology, hematology-oncology, and reproductive medicine, and does not focus exclusively on the more commonly known neurologic conditions. An accessible, user-friendly text, it also presents translational concepts of mitochondrial biogenesis and genetics in vignettes related to specific questions raised by the disease under discussion, rather than concentrating on basic science, which can often intimidate clinicians. This pioneering work is primarily directed to a clinical audience who are interested in the diverse and diagnostically challenging clinical presentations of mitochondrial diseases and their pathophysiology.
Mitochondrial Dysfunction
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Author : Lawrence H. Lash
language : en
Publisher: Elsevier
Release Date : 2013-10-22
Mitochondrial Dysfunction written by Lawrence H. Lash and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-10-22 with Science categories.
Methods in Toxicology, Volume 2: Mitochondrial Dysfunction provides a source of methods, techniques, and experimental approaches for studying the role of abnormal mitochondrial function in cell injury. The book discusses the methods for the preparation and basic functional assessment of mitochondria from liver, kidney, muscle, and brain; the methods for assessing mitochondrial dysfunction in vivo and in intact organs; and the structural aspects of mitochondrial dysfunction are addressed. The text also describes chemical detoxification and metabolism as well as specific metabolic reactions that are especially important targets or indicators of damage. The methods for measurement of alterations in fatty acid and phospholipid metabolism and for the analysis and manipulation of oxidative injury and antioxidant systems are also considered. The book further tackles additional methods on mitochondrial energetics and transport processes; approaches for assessing impaired function of mitochondria; and genetic and developmental aspects of mitochondrial disease and toxicology. The text also looks into mitochondrial DNA synthesis, covalent binding to mitochondrial DNA, DNA repair, and mitochondrial dysfunction in the context of developing individuals and cellular differentiation. Microbiologists, toxicologists, biochemists, and molecular pharmacologists will find the book invaluable.
Myopathology
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Author : Balan Louis Gaspar
language : en
Publisher: Springer
Release Date : 2018-09-24
Myopathology written by Balan Louis Gaspar and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-09-24 with Medical categories.
This book covers all aspects of basic, essential, recent advances and controversies in myopathology. The major emphasis is on diagnostic myopathology of muscular dystrophies, inflammatory myopathies, mitochondrial myopathies, metabolic myopathies, congenital myopathies, myopathies of miscellaneous etiology, neurogenic and neuromuscular junction disorders, the goal being to broaden readers’ understanding of individual disease subgroups. The book also contains all the essential details needed to establish a neuromuscular lab, making it especially relevant for laboratory technical staff and research scholars.
Mitochondrial Dysfunction In Ageing And Diseases
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Author : Jaime M. Ross
language : en
Publisher: MDPI
Release Date : 2018-09-28
Mitochondrial Dysfunction In Ageing And Diseases written by Jaime M. Ross and has been published by MDPI this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-09-28 with Electronic book categories.
This book is a printed edition of the Special Issue "Mitochondrial Dysfunction in Ageing and Diseases" that was published in IJMS
Molecular Diagnostics Promises And Possibilities
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Author : Mousumi Debnath
language : en
Publisher: Springer Science & Business Media
Release Date : 2010-01-29
Molecular Diagnostics Promises And Possibilities written by Mousumi Debnath and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-01-29 with Medical categories.
A rapid development in diverse areas of molecular biology and genetic engineering resulted in emergence of variety of tools. These tools are not only applicable to basic researches being carried out world over, but also exploited for precise detection of abnormal conditions in plants, animals and human body. Although a basic researcher is well versed with few techniques used by him/her in the laboratory, they may not be well acquainted with methodologies, which can be used to work out some of their own research problems. The picture is more blurred when the molecular diagnostic tools are to be used by physicians, scientists and technicians working in diagnostic laboratories in hospitals, industry and academic institutions. Since many of them are not trained in basics of these methods, they come across several gray areas in understanding of these tools. The accurate application of molecular diagnostic tools demands in depth understanding of the methodology for precise detection of the abnormal condition of living body. To meet the requirements of a good book on molecular diagnostics of students, physicians, scientists working in agricultural, veterinary, medical and pharmaceutical sciences, it needs to expose the reader lucidly to: Give basic science behind commonly used tools in diagnostics Expose the readers to detailed applications of these tools and Make them aware the availability of such diagnostic tools The book will attract additional audience of pathologists, medical microbiologists, pharmaceutical sciences, agricultural scientists and veterinary doctors if the following topics are incorporated at appropriate places in Unit II or separately as a part of Unit-III in the book. Molecular diagnosis of diseases in agricultural crops Molecular diagnosis of veterinary diseases. Molecular epidemiology, which helps to differentiate various epidemic strains and sources of disease outbreaks. Even in different units of the same hospital, the infections could be by different strains of the same species and the information becomes valuable for infection control strategies. Drug resistance is a growing problem for bacterial, fungal and parasitic microbes and the molecular biology tools can help to detect the drug resistance genes without the cultivation and in vitro sensitivity testing. Molecular diagnostics offers faster help in the selection of the proper antibiotic for the treatment of tuberculosis, which is a major problem of the in the developing world. The conventional culture and drug sensitivity testing of tuberculosis bacilli is laborious and time consuming, whereas molecular diagnosis offers rapid drug resistant gene detection even from direct clinical samples. The same approach for HIV, malaria and many more diseases needs to be considered. Molecular diagnostics in the detection of diseases during foetal life is an upcoming area in the foetal medicine in case of genetic abnormalities and infectious like TORCH complex etc. The book will be equally useful to students, scientists and professionals working in the field of molecular diagnostics.
Assessing Genetic Risks
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Author : Institute of Medicine
language : en
Publisher: National Academies Press
Release Date : 1994-01-01
Assessing Genetic Risks written by Institute of Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 1994-01-01 with Medical categories.
Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Physician S Guide To The Diagnosis Treatment And Follow Up Of Inherited Metabolic Diseases
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Author : Nenad Blau
language : en
Publisher: Springer
Release Date : 2014-07-08
Physician S Guide To The Diagnosis Treatment And Follow Up Of Inherited Metabolic Diseases written by Nenad Blau and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-07-08 with Medical categories.
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.