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Inherited Disorders Of The Kidney
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Book Synopsis Genetic Diseases of the Kidney by : Richard P. Lifton
Download or read book Genetic Diseases of the Kidney written by Richard P. Lifton and published by Academic Press. This book was released on 2009-02-25 with total page 895 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic approaches have revolutionized our understanding of the fundamental causes of human disease by permitting the identification of specific genes in which variation causes or contributes to susceptibility to, or protection from, disease. More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine. Genetic Diseases of the Kidney offers expert insight into the role of genetic abnormalities in the pathogenesis of abnormal kidney function and kidney disease. Genetic abnormalities are carefully presented within the appropriate physiologic context so that readers will understand not only which genes are linked to which diseases but also which pathways lead from a genetic "disturbance to the systemic appearance of disease. - Lays the essential foundation of mammalian genetics principles for medical professionals with little or no background in genetics - Analyzes specific renal diseases – both monogenic disorders confined to the kidney and systemic diseases with renal involvement – and explains their genetic causes - World-renowned editors and authors offer expert frameworks for understanding the links between genes and complex clinical disorders (i.e., lupus, diabetes, HIV, and hypertension)
Download or read book Cystogenesis written by Jong Hoon Park and published by Springer. This book was released on 2016-10-12 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a highly prevalent hereditary renal disorder in which fluid-filled cysts are appeared in both kidneys. Main causative genes of ADPKD are PKD1 and PKD2, encoding for polycystin-1 (PC1) and polycystin-2 (PC2) respectively. Those proteins are localized on primary cilia and function as mechanosensor in response to the fluid flow, translating mechanistic stimuli into calcium signaling. With mutations either of PKD1 or PKD2, hyper-activated renal tubular epithelial cell proliferation is observed, followed by disrupted calcium homeostasis and aberrant intracellular cyclic AMP (cAMP) accumulation. Increased cell proliferation with fluid secretion leads to the development of thousands of epithelial-lined, fluid-filled cysts in kidneys. It is also accompanied by interstitial inflammation, fibrosis, and finally reaching end-stage renal disease (ESRD). In human ADPKD, the age at which renal failure typically occurs is later in life, however no specific targeted medications are available to cure ADPKD. Recently, potential therapeutic targets or surrogate diagnostic biomarkers for ADPKD are proposed with the advances in the understanding of ADPKD pathogenesis, and some of them were attempted for clinical trials. Herein, we will summarize genetic and epi-genetic molecular mechanisms in ADPKD progression, and overview the currently available biomarkers or potential therapeutic reagents suggested.
Book Synopsis Molecular and Genetic Basis of Renal Disease by : David B. Mount
Download or read book Molecular and Genetic Basis of Renal Disease written by David B. Mount and published by Elsevier Health Sciences. This book was released on 2008-01-01 with total page 604 pages. Available in PDF, EPUB and Kindle. Book excerpt: This companion to Brenner and Rector's The Kidney offers a state-of-the-art summary of the most recent advances in renal genetics. Molecular and Genetic Basis for Renal Disease provides the nephrologist with a comprehensive look at modern investigative tools in nephrology research today, and reviews the molecular pathophysiology of the nephron as well as the most common genetic and acquired renal diseases. A comprehensive clinical review of Medelian renal disease is also be included. Detailed review of the molecular anatomy and pathophysiology of the nephron that provides relevant basic science to consider when diagnosing and managing patients with these disorders.
Book Synopsis Pediatric Nephrology by : Ellis D. Avner
Download or read book Pediatric Nephrology written by Ellis D. Avner and published by Springer Science & Business Media. This book was released on 2009-08-20 with total page 2059 pages. Available in PDF, EPUB and Kindle. Book excerpt: Here is an extensive update of Pediatric Nephrology, which has become the standard reference text in the field. It is global in perspective and reflects the international group of editors, who are well-recognized experts in pediatric nephrology. Within this text, the development of kidney structure and function is followed by detailed and comprehensive chapters on all childhood kidney diseases.
Book Synopsis Disease Control Priorities in Developing Countries by : Dean T. Jamison
Download or read book Disease Control Priorities in Developing Countries written by Dean T. Jamison and published by World Bank Publications. This book was released on 2006-04-02 with total page 1449 pages. Available in PDF, EPUB and Kindle. Book excerpt: Based on careful analysis of burden of disease and the costs ofinterventions, this second edition of 'Disease Control Priorities in Developing Countries, 2nd edition' highlights achievable priorities; measures progresstoward providing efficient, equitable care; promotes cost-effectiveinterventions to targeted populations; and encourages integrated effortsto optimize health. Nearly 500 experts - scientists, epidemiologists, health economists,academicians, and public health practitioners - from around the worldcontributed to the data sources and methodologies, and identifiedchallenges and priorities, resulting in this integrated, comprehensivereference volume on the state of health in developing countries.
Book Synopsis Silva's Diagnostic Renal Pathology by : Xin J. Zhou
Download or read book Silva's Diagnostic Renal Pathology written by Xin J. Zhou and published by Cambridge University Press. This book was released on 2017-03-02 with total page 691 pages. Available in PDF, EPUB and Kindle. Book excerpt: An algorithmic approach to interpreting renal pathology, updated in light of recent advances in understanding and new classification schemes.
Book Synopsis Polycystic Kidney Disease by : Jinghua Hu
Download or read book Polycystic Kidney Disease written by Jinghua Hu and published by CRC Press. This book was released on 2019-10-24 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume focuses on the investigatory methods applied to autosomal dominant polycystic kidney disease (ADPKD), one of the most common human genetic diseases. ADPKD is caused by mutations in PKD1 and TRPP2, two integral membrane proteins that function as receptor/ion channels in primary cilia of tubular epithelial cells. Thus, ADPKD belongs to ciliopathies, a group of disorders caused by abnormal cilia formation or function. This proposed book will cover the state-of-the-art methods ranging from molecular biology, biochemistry, electrophysiology, to tools in model animal studies. Key Features Explores the role of cilia in polycystic kidney disease Focuses on myriad state-of-the-art methods and techniques Reviews specific mutations integral to this autosomal genetic disease Includes discussions of model systems
Book Synopsis Understanding Kidney Diseases by : Hugh C. Rayner
Download or read book Understanding Kidney Diseases written by Hugh C. Rayner and published by Springer. This book was released on 2020-07-15 with total page 398 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book combines the reference material of a nephrology textbook with the everyday relevance of a clinical handbook. This second edition develops and expands upon the success of the first. All the content has been updated and entirely new chapters on acid-base disorders and stone disease have been added. Understanding Kidney Diseases includes over 60 real-life case studies and is illustrated with over 200 figures. Readers can test their knowledge with a bank of multiple-choice questions and put it into practice by answering questions that patients frequently ask. The book provides all that students, residents and fellows need in order to approach a patient with a kidney problem with confidence.
Download or read book Podocytopathy written by Z.-H. Liui and published by Karger Medical and Scientific Publishers. This book was released on 2014-05-16 with total page 274 pages. Available in PDF, EPUB and Kindle. Book excerpt: The podocyte is a key cell that forms the last barrier of the kidney filtration unit. One of the most exciting developments in the field of nephrology in the last decade has been the elucidation of its biology and its role in the pathophysiology of inherited and acquired glomerular disease, termed podocytopathy. In this publication, world-renowned experts summarize the most recent findings and advances in the field: they describe the unique biological features and injury mechanisms of the podocyte, novel techniques used in their study, and diagnosis and potential therapeutic approaches to glomerular diseases. Due to its broad scope, this publication is of great value not only for clinical nephrologists and researchers, but also for students, residents, fellows, and postdocs.
Book Synopsis Oxford Textbook of Clinical Nephrology by : Neil N. Turner
Download or read book Oxford Textbook of Clinical Nephrology written by Neil N. Turner and published by Oxford University Press. This book was released on 2015-10-29 with total page 3045 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fourth edition of the Oxford Textbook of Clinical Nephrology builds on the success and international reputation of the publication as an important resource for the practising clinician in the field. It provides practical, scholarly, and evidence-based coverage of the full spectrum of clinical nephrology, written by a global faculty of experts. The most relevant and important reference to clinical nephrology, this is an authoritative and comprehensive textbook combining the clinical aspects of renal disease essential to daily clinical practice with extensive information about the underlying basic science and current evidence available. Each section of the textbook has been critically and comprehensively edited under the auspices of a leading expert in the field. This new edition has been significantly expanded and reapportioned to reflect developments and new approaches to topics, and includes treatment algorithms to aid and enhance patient care where possible. The fourth edition offers increased focus on the medical aspects of transplantation, HIV-associated renal disease, and infection and renal disease, alongside entirely new sections on genetic topics and clinical and physiological aspects of fluid/electrolyte and tubular disorders. The emphasis throughout is on marrying advances in scientific research with clinical management. Richly illustrated throughout in full colour, this is a truly modern and attractive edition which reinforces the Oxford Textbook of Clinical Nephrology's position as an indispensable reference work of consistent quality and reliability. Enriched and refined by careful revision, this new edition continues the tradition of excellence. This print edition of The Oxford Textbook of Clinical Nephrology comes with a year's access to the online version on Oxford Medicine Online. By activating your unique access code, you can read and annotate the full text online, follow links from the references to primary research materials, and view, enlarge and download all the figures and tables. Oxford Medicine Online is mobile optimized for access when and where you need it.
Book Synopsis Chronic Kidney Disease by : Thomas Rath
Download or read book Chronic Kidney Disease written by Thomas Rath and published by BoD – Books on Demand. This book was released on 2018-02-21 with total page 307 pages. Available in PDF, EPUB and Kindle. Book excerpt: Known worldwide, chronic kidney disease (CKD) is a disease that affects up to 4% of the population with increasing figures also in the 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 the 13 chapters, this book sheds light on the different aspects related to pathophysiology and clinical aspects of CKD, providing interesting insights into not only inflammation and cardiovascular risk but also the interplay of hormones and the functional aspects of endothelial function. In addition, chapters dealing with genetic aspects of polycystic kidney disease and also the clinical handling of patients with CKD and peritoneal dialysis will be beneficial for the open-minded reader.
Book Synopsis Genomic Disorders by : James R. Lupski
Download or read book Genomic Disorders written by James R. Lupski and published by Springer Science & Business Media. This book was released on 2007-11-10 with total page 419 pages. Available in PDF, EPUB and Kindle. Book excerpt: A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.
Book Synopsis Phosphate Metabolism by : Shaul Massry
Download or read book Phosphate Metabolism written by Shaul Massry and published by Springer Science & Business Media. This book was released on 2013-11-21 with total page 611 pages. Available in PDF, EPUB and Kindle. Book excerpt: We present to our readers the proceedings of the Second International Workshop on Phosphate. A short account of the history of the effort led to the Phosphate Workshops is appro priate and can be of interest to the reader. The idea for Phosphate Workshops was born in the early days of November, 1974. One of us (S. G. M. ) suggested the thought to a group of scientists gathered for a luncheon in one of the attrac tive small restaurants in Weisbaden, Germany. The purpose of the workshop was to bring together interested scientists to discuss the newer developments and the recent advances in the field of phosphate metabolism and the other related minerals. An Organizing Committee made of Shaul G. Massry (USA), Louis V. Avioli (USA), Philippe Bordier (France), Herbert Fleisch (Switzerland), and Eduardo Slatopolsky (USA) was formed. The First Workshop was held in Paris during June 5-6, 1975 and was hosted by Dr. Philippe Bordier. Its proceeding was already published. The Second Workshop took place in Heidelberg during June 28-30, 1976 and was hosted by Dr. Eberhard Ritz. Both of these workshops were extremely successful scientific endeavors, and the need for them was demonstrated by the great interest they generated among the scientific community. The Or ganizing Committee, therefore, decided to continue with the tradi tion to hold additional Workshops annually or every other year.
Author :Charles R. Scriver Publisher :New York ; Montreal : McGraw-Hill ISBN 13 :9780071363198 Total Pages :6338 pages Book Rating :4.3/5 (631 download)
Book Synopsis The Metabolic & Molecular Bases of Inherited Disease by : Charles R. Scriver
Download or read book The Metabolic & Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Book Synopsis Pediatric Kidney Disease by : Denis F. Geary
Download or read book Pediatric Kidney Disease written by Denis F. Geary and published by Springer. This book was released on 2017-02-16 with total page 1968 pages. Available in PDF, EPUB and Kindle. Book excerpt: The new edition of this valuable clinical resource offers a state of the art, comprehensive review on every clinical condition encountered in pediatric nephrology. International experts present the latest knowledge on epidemiology, diagnosis, management, and prognosis in one concise, clinically focused text, in which care has been taken to couple just the right amount of "need-to-know" basic science with practical clinical guidance that will enable the reader to make efficient, informed decisions. The topics covered include: disorders of renal development, glomerular disorders, the kidney and systemic disease, renal tubular disorders, tubulointerstitial disease, urinary tract disorders, acute kidney injury, hypertension, chronic and end-stage renal disease, and renal replacement therapy. The full-color, highly visual, meticulously crafted format will ensure that the practitioner is able to source and apply information with remarkable ease.
Book Synopsis Mitochondrial Dysfunction by : Lawrence H. Lash
Download or read book Mitochondrial Dysfunction written by Lawrence H. Lash and published by Elsevier. This book was released on 2013-10-22 with total page 527 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Hereditary Kidney Diseases by : A. Sessa
Download or read book Hereditary Kidney Diseases written by A. Sessa and published by Karger Medical and Scientific Publishers. This book was released on 1997-01-01 with total page 234 pages. Available in PDF, EPUB and Kindle. Book excerpt: I would recommend this slim volume for geneticists with an interest in hereditary kidney diseases who would appreciate well written and referenced, up to date papers on the specific conditions included.' Journal of Medical Genetics
