Download or read book New insights into creatine transporter deficiency written by Angelo Molinaro and published by Firenze University Press. This book was released on 2020 with total page 118 pages. Available in PDF, EPUB and Kindle. Book excerpt: Creatine (Cr) transporter deficiency (CCDS1) is a very rare and severe condition due to impaired energetic metabolism. In this work we showed for the first time the following facts: this diseases is a progressive neurodegenerative disorder in which a set of maladaptive compensatory mechanisms leads to a progressive damage of brain functions; cell energy metabolism and mitochondria seem strongly involved in the pathogenesis and they could represent useful potential targets for therapeutic interventions; inflammation seems to play an important part in this progressive damage, and this observation can pave the way to treatment strategies; neural circuits disruption involving inhibitory systems could give a huge contribute to many of the clinical aspects observed in patients, as epilepsy and cognitive impairment, since the excitatory/inhibitory balance is fundamental for the normal function of neural circuits. Factors outside the CNS are important in the pathogenesis of at least some aspects of the disorder, since the conditional KO model show difference in the timing of onset of some cognitive defects and in the presence of stereotypies.
Download or read book New insights into creatine transporter deficiency written by angela molinaro and published by . This book was released on 2020 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Creatine (Cr) transporter deficiency (CCDS1) is a very rare and severe condition due to impaired energetic metabolism. In this work we showed for the first time the following facts: this diseases is a progressive neurodegenerative disorder in which a set of maladaptive compensatory mechanisms leads to a progressive damage of brain functions; cell energy metabolism and mitochondria seem strongly involved in the pathogenesis and they could represent useful potential targets for therapeutic interventions; inflammation seems to play an important part in this progressive damage, and this observation can pave the way to treatment strategies; neural circuits disruption involving inhibitory systems could give a huge contribute to many of the clinical aspects observed in patients, as epilepsy and cognitive impairment, since the excitatory/inhibitory balance is fundamental for the normal function of neural circuits. Factors outside the CNS are important in the pathogenesis of at least some aspects of the disorder, since the conditional KO model show difference in the timing of onset of some cognitive defects and in the presence of stereotypies.
Download or read book Creatine and Creatine Kinase in Health and Disease written by Gajja S. Salomons and published by Springer Science & Business Media. This book was released on 2007-10-16 with total page 359 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume places emphasis on the intricate interplay between creatine and creatine kinase function on one hand and proper brain function, neurodegenerative disease and/or neuroprotection on the other. The book, compiled by outstanding experts, provides a key reference summarizing the state-of-the-art in creatine and creatine kinase research. It is a must-read for understanding the links between creatine metabolism and neuroprotection as well as neurodegenerative disease.
Download or read book Guanidino Compounds in Biology and Medicine written by Joseph F. Clark and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 186 pages. Available in PDF, EPUB and Kindle. Book excerpt: Guanidino compounds comprise Creatine, Arginine, and the Guanidines. In the past two years there have been over 2000 published articles with the names of these compounds in the title. One can go to any nutrition or health food store and buy these as supplements because it is believed they improve health and athletic performance. This volume includes an up to date summary of the scientific and clinical aspects of essentially all the biologically active Guanidino Compounds. The articles summarize the current scientific knowledge of these compounds with reference to relevant clinical conditions, and discuss the chemical, biological, and clinical functions of these compounds.
Download or read book Metabolic Diseases New Insights for the Healthcare Professional 2012 Edition written by and published by ScholarlyEditions. This book was released on 2012-12-10 with total page 43 pages. Available in PDF, EPUB and Kindle. Book excerpt: Metabolic Diseases: New Insights for the Healthcare Professional / 2012 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Metabolic Diseases in a concise format. The editors have built Metabolic Diseases: New Insights for the Healthcare Professional / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Metabolic Diseases 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 Metabolic Diseases: 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/.
Download or read book Mental Retardation New Insights for the Healthcare Professional 2011 Edition written by and published by ScholarlyEditions. This book was released on 2012-01-09 with total page 80 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mental Retardation: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Mental Retardation in a concise format. The editors have built Mental Retardation: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Mental Retardation 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 Mental Retardation: New Insights for the Healthcare Professional: 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/.
Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
Download or read book Mental Retardation New Insights for the Healthcare Professional 2012 Edition written by and published by ScholarlyEditions. This book was released on 2012-12-10 with total page 62 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mental Retardation: New Insights for the Healthcare Professional / 2012 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Mental Retardation in a concise format. The editors have built Mental Retardation: New Insights for the Healthcare Professional / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Mental Retardation 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 Mental Retardation: 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/.
Download or read book Physician s Guide to the Laboratory Diagnosis of Metabolic Diseases written by N. Blau and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 732 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are three indices to make the book as user-friendly as possible.
Download or read book General Methods in Biomarker Research and their Applications written by Victor R. Preedy and published by Springer. This book was released on 2015-08-14 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the past decade there has been a major sea change in the way disease is diagnosed and investigated due to the advent of high throughput technologies, such as microarrays, lab on a chip, proteomics, genomics, lipomics, metabolomics etc. These advances have enabled the discovery of new and novel markers of disease relating to autoimmune disorders, cancers, endocrine diseases, genetic disorders, sensory damage, intestinal diseases etc. In many instances these developments have gone hand in hand with the discovery of biomarkers elucidated via traditional or conventional methods, such as histopathology or clinical biochemistry. Together with microprocessor-based data analysis, advanced statistics and bioinformatics these markers have been used to identify individuals with active disease or pathology as well as those who are refractory or have distinguishing pathologies. New analytical methods that have been used to identify markers of disease and is suggested that there may be as many as 40 different platforms. Unfortunately techniques and methods have not been readily transferable to other disease states and sometimes diagnosis still relies on single analytes rather than a cohort of markers. There is thus a demand for a comprehensive and focused evidenced-based text and scientific literature that addresses these issues. Hence the formulation of Biomarkers in Disease. The series covers a wide number of areas including for example, nutrition, cancer, endocrinology, cardiology, addictions, immunology, birth defects, genetics and so on. The chapters are written by national or international experts and specialists.
Download or read book Atlas of Inherited Metabolic Diseases written by William L Nyhan and published by CRC Press. This book was released on 2020-07-14 with total page 871 pages. Available in PDF, EPUB and Kindle. Book excerpt: In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis. Key Features • Fully updated to incorporate all new developments in the field • Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others • Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management • Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability The fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide.
Download or read book Diet Brain Connections written by Mark Paul Mattson and published by Springer Science & Business Media. This book was released on 2002-08-31 with total page 284 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Diet - Brain Connections fills a void between the fields of nutrition, behavior and cellular and molecular neurosciences by providing an integrated collection of articles that critically dissect the link between what we eat and how the brain develops and functions in health and disease ... This book provides an unprecedented resource for scientists in academia and government labs as well as in the pharmaceutical, nutraceutical and food industries" -- Back cover.
Download or read book Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development written by Dalila De Vita and published by Firenze University Press. This book was released on 2022 with total page 68 pages. Available in PDF, EPUB and Kindle. Book excerpt: Malformations of cortical development (MCDs) result from a disruption in the process of the human brain cortex formation: currently, there are no pharmacological treatments for diffuse MCDs. Next-generation sequencing has accelerated the identification of MCDs causing genes: in some cases, functional studies are needed to clarify the role of genetic variants. The aim of this PhD project has been to apply a multidisciplinary approach to identify causative mutations in patients with MCDs, validate the pathogenic role of the identified mutations, and assess the effectiveness of novel in vitro treatment for mTOR pathway related MCDs.
Download or read book Nutrition and Traumatic Brain Injury written by Institute of Medicine and published by National Academies Press. This book was released on 2011-07-01 with total page 444 pages. Available in PDF, EPUB and Kindle. Book excerpt: Traumatic brain injury (TBI) accounts for up to one-third of combat-related injuries in Iraq and Afghanistan, according to some estimates. TBI is also a major problem among civilians, especially those who engage in certain sports. At the request of the Department of Defense, the IOM examined the potential role of nutrition in the treatment of and resilience against TBI.
Download or read book The Causes of Epilepsy written by Simon Shorvon and published by Cambridge University Press. This book was released on 2019-05-02 with total page 1013 pages. Available in PDF, EPUB and Kindle. Book excerpt: Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.
Download or read book Advanced Ground Based Real and Synthetic Aperture Radar written by Lapo Miccinesi and published by Firenze University Press. This book was released on 2022 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ground-based/terrestrial radar interferometry (GBRI) is a scientific topic of increasing interest in recent years. The GBRI is used in several field as remote sensing technique for monitoring natural environment (landslides, glacier, and mines) or infrastructures (bridges, towers). These sensors provide the displacement of targets by measuring the phase difference between sending and receiving radar signal. If the acquisition rate is enough the GBRI can provide the natural frequency, e.g. by calculating the Fourier transform of displacement. The research activity, presented in this work, concerns design and development of some advanced GBRI systems. These systems are related to the following issue: detection of displacement vector, Multiple Input Multiple Output (MIMO) and radars with 3D capability.
Download or read book Cell Signaling and Neural Circuits in Chronic Diseases of the Central Nervous System written by Francesco Ferraguti and published by Frontiers Media SA. This book was released on 2021-12-30 with total page 234 pages. Available in PDF, EPUB and Kindle. Book excerpt:
