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.

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 126 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.

Download or read book The Kidney written by Peter D. Vize and published by Elsevier. This book was released on 2003-03-14 with total page 534 pages. Available in PDF, EPUB and Kindle. Book excerpt: Organogenesis of the kidney has been intensely studied for over a century. In recent years advances in molecular techniques have not only made great inroads into exploring the genetic regulation of this complex process but also began to unravel the molecular basis of many forms of congenital kidney disease. This book is a comprehensive study on these findings and the only book available with such in depth coverage of the kidney. Hundreds of color figures depicting key events in all aspects of kidney development Full coverage of the genetic and cellular basis of kidney development Analysis of the genetic basis of the major congenital kidney diseases

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 Molecular Pathology written by William B. Coleman and published by Academic Press. This book was released on 2017-11-09 with total page 802 pages. Available in PDF, EPUB and Kindle. Book excerpt: As the molecular basis of human disease becomes better characterized, and the implications for understanding the molecular basis of disease becomes realized through improved diagnostics and treatment, Molecular Pathology, Second Edition stands out as the most comprehensive textbook where molecular mechanisms represent the focus. It is uniquely concerned with the molecular basis of major human diseases and disease processes, presented in the context of traditional pathology, with implications for translational molecular medicine. The Second Edition of Molecular Pathology has been thoroughly updated to reflect seven years of exponential changes in the fields of genetics, molecular, and cell biology which molecular pathology translates in the practice of molecular medicine. The textbook is intended to serve as a multi-use textbook that would be appropriate as a classroom teaching tool for biomedical graduate students, medical students, allied health students, and others (such as advanced undergraduates). Further, this textbook will be valuable for pathology residents and other postdoctoral fellows that desire to advance their understanding of molecular mechanisms of disease beyond what they learned in medical/graduate school. In addition, this textbook is useful as a reference book for practicing basic scientists and physician scientists that perform disease-related basic science and translational research, who require a ready information resource on the molecular basis of various human diseases and disease states. Explores the principles and practice of molecular pathology: molecular pathogenesis, molecular mechanisms of disease, and how the molecular pathogenesis of disease parallels the evolution of the disease Explains the practice of “molecular medicine and the translational aspects of molecular pathology Teaches from the perspective of “integrative systems biology Enhanced digital version included with purchase

Download or read book The Genetics of Renal Disease written by Frances Flinter and published by . This book was released on 2003 with total page 600 pages. Available in PDF, EPUB and Kindle. Book excerpt: Renal genetic disorders may become apparent at any time in life and recognition of specific renal disorders is important in allowing accurate genetic counselling. Active counselling requires knowledge about the natural history of the disorder, an understanding of the genetic component and mode of inheritance, risk of the disorder in other family members, information about patient attitudes towards family planning and the possibility of pre-natal diagnosis. The Genetics of Renal Disease covers these issues in detail. The book provides a comprehensive account of both the hereditary nephropathies and more generalised disorders which may affect the renal tract. It includes comprehensive guidelines from an international group of authors on renal function and development, choromosomal disorders, dysmorphic syndromes, inherited predisposition to kidney cancer and gene therapy for renal cancer. Specific chapters deal with individual renal tract disorders such as an extensive discussion of Alport's disease, cystic renal diseases, the Bardet-Biedl and Alstrom syndromes. Each section gives a brief description of the clinical and pathological features of a particular disorder, followed by a review of the genetics of the disorder including incidence, inheritance of familial occurrence, genetic linkage and gene assignment, and prenatal diagnosis and carrier detection. Original studies are extensively quoted and are referenced at the end of each section. There are a great many dysmorphic syndromes which involve the urinary tract. These are incorporated within the book. Aimed primarily at clinical and medical geneticists, this book will also appeal to researchers into genetic kidney disease and genetic counsellors as well as nephrologists with an interest in this area.

Download or read book Handbook of Life Course Health Development written by Neal Halfon and published by Springer. This book was released on 2017-11-20 with total page 667 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is open access under a CC BY 4.0 license. ​This handbook synthesizes and analyzes the growing knowledge base on life course health development (LCHD) from the prenatal period through emerging adulthood, with implications for clinical practice and public health. It presents LCHD as an innovative field with a sound theoretical framework for understanding wellness and disease from a lifespan perspective, replacing previous medical, biopsychosocial, and early genomic models of health. Interdisciplinary chapters discuss major health concerns (diabetes, obesity), important less-studied conditions (hearing, kidney health), and large-scale issues (nutrition, adversity) from a lifespan viewpoint. In addition, chapters address methodological approaches and challenges by analyzing existing measures, studies, and surveys. The book concludes with the editors’ research agenda that proposes priorities for future LCHD research and its application to health care practice and health policy. Topics featured in the Handbook include: The prenatal period and its effect on child obesity and metabolic outcomes. Pregnancy complications and their effect on women’s cardiovascular health. A multi-level approach for obesity prevention in children. Application of the LCHD framework to autism spectrum disorder. Socioeconomic disadvantage and its influence on health development across the lifespan. The importance of nutrition to optimal health development across the lifespan. The Handbook of Life Course Health Development is a must-have resource for researchers, clinicians/professionals, and graduate students in developmental psychology/science; maternal and child health; social work; health economics; educational policy and politics; and medical law as well as many interrelated subdisciplines in psychology, medicine, public health, mental health, education, social welfare, economics, sociology, and law.

Download or read book Genetic Anomalies in Kidney written by Zulkar Nain and published by Createspace Independent Publishing Platform. This book was released on 2016-08-31 with total page 62 pages. Available in PDF, EPUB and Kindle. Book excerpt: Being central to renal system, kidney plays the most important role in maintenance of homeostasis. The internal structure of kidney is very sophisticated and acts more like biological membrane which filtrates wastes from blood and discard into urine. Kidney maintain the constancy of water and solutes in the body so that the body can work without any hindrance. The evolution of excretory process was fundamental for living system to exist, which is highly organized into renal system in human. Unfortunately, kidney is neither divine nor fine-tuned, sometimes it undergo poor filtration and faulty regulation due to various dysfunctions and malformations. Dysfunctions of kidney may develop under the influence of external and internal factors which induce the mutation of genes associated with kidney. These dysfunctions and malformations lead to various kidney disease, eventually. Most kidney diseases are not genetically linked but some conditions are linked to genetic makeup of an individual. These genetic dysfunctions are mostly programmed before birth or sometimes, responsible gene could be altered by various factors during the lifetime of an individual. This book is intended to discuss some of the most prominent hereditary kidney diseases, such as Polycystic Kidney Disorder, Alport Syndrome, Bartter Syndrome, etc., on the basis of their inheritance and molecular genetics. Luckily, most of the kidney diseases are curable at present, not so promising though.

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.

Download or read book Kidney Development Disease Repair and Regeneration written by Melissa Helen Little and published by Academic Press. This book was released on 2015-08-06 with total page 614 pages. Available in PDF, EPUB and Kindle. Book excerpt: Kidney Development, Disease, Repair and Regeneration focuses on the molecular and cellular basis of kidney development, exploring the origins of kidney lineages, the development of kidney tissue subcompartments, as well as the genetic and environmental regulation of kidney development. Special coverage is given to kidney stem cells and possible steps towards kidney repair and regeneration. Emphasis is placed on the fetal origins of postnatal renal disease and our current understanding of the molecular basis of damage and repair. Biomedical researchers across experimental nephrology and developmental biology will find this a key reference for learning how the underlying developmental mechanisms of the kidney will lead to greater advances in regenerative medicine within nephrology. Offers researchers a single comprehensive resource written by leaders from both the developmental biology and the experimental nephrology communities Focuses on understanding the molecular basis of organogenesis in the kidney as well as how this can be affected both genetically and environmentally Explains the underlying developmental mechanisms which influence the kidney’s inherent repair capacity Demonstrates how a deeper understanding of mechanisms will lead to greater advances in regenerative medicine

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.

Download or read book Genetics for Pulmonologists written by Jordan Prutkin and published by Remedica. This book was released on 2002 with total page 207 pages. Available in PDF, EPUB and Kindle. Book excerpt: Our understanding of the relationship between genetics and pulmonary disorders is still evolving. In 1989 cloning of the gene that, when mutated, causes cystic fibrosis marked a great advance in the study of genetic diseases. Yet, over a decade later, understanding of how this genetic defect leads to colonization by bacteria and inflammation in the lung remains elusive.

Download or read book Epigenetics and Epigenomics written by Christopher J. Payne and published by BoD – Books on Demand. This book was released on 2014-04-29 with total page 222 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book aims to provide an overview of current knowledge regarding epigenetics and epigenomics. Included are reviews on the role of epigenetics in the development and pathogenesis of the vascular endothelium and nervous system, as well as our current understanding of the potential etiologies of Autism Spectrum Disorders. Additional chapters are devoted to DNA methylation, genomic imprinting and human reproduction. A discussion of the role of the epigenome in cancer prevention and polyphenols is also included. Authors provide research findings from both human data and animal model studies. This book will be of interest to scientists, physicians and lay readers wishing to review recent developments in the field of epigenetics and epigenomics.

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 2005 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.

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.

Download or read book Molecular Epidemiology written by Paul A. Schulte and published by Academic Press. This book was released on 2012-12-02 with total page 609 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book will serve as a primer for both laboratory and field scientists who are shaping the emerging field of molecular epidemiology. Molecular epidemiology utilizes the same paradigm as traditional epidemiology but uses biological markers to identify exposure, disease or susceptibility. Schulte and Perera present the epidemiologic methods pertinent to biological markers. The book is also designed to enumerate the considerations necessary for valid field research and provide a resource on the salient and subtle features of biological indicators.

Download or read book Replacement of Renal Function by Dialysis written by Walter H. Hörl and published by Springer Science & Business Media. This book was released on 2013-06-05 with total page 1640 pages. Available in PDF, EPUB and Kindle. Book excerpt: The leading Textbook on the subject. A completely rewritten and up-to-date fifth edition, based upon the highly respected fourth edition, edited by C. Jacobs, C.M. Kjellstrand, K.M. Koch and J.F. Winchester. This new edition is truly global in scope and features the contributions of the top experts from around the world.