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 Congenital Anomalies of the Kidney and Urinary Tract written by Amin J. Barakat and published by Springer. This book was released on 2016-06-08 with total page 368 pages. Available in PDF, EPUB and Kindle. Book excerpt: This comprehensive, easy to read reference addresses the clinical implications of congenital anomalies of the kidney and urinary tract (CAKUT) in children. Authored by a panel of internationally recognized pediatric nephrologists and urologists, chapters discuss clinical presentation, workup, interpretation of imaging studies, genetics, prenatal diagnosis, prevention and treatment of various anomalies to help the practitioner understand, diagnose and manage CAKUT. Tables, figures, algorithms and an extensive appendix listing conditions and syndromes associated with CAKUT are featured to assist physicians in the differential diagnosis and workup of different conditions.

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 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 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 in Genetic Disease written by Amin Y. Barakat and published by . This book was released on 1986 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Congenital Anomalies written by Stefania Tudorache and published by BoD – Books on Demand. This book was released on 2018-05-02 with total page 546 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nowadays, nobody can imagine practicing obstetrics without using obstetrical ultrasound. Working in the prenatal diagnosis field requires dedication, patience, skills, experience, caution, and empathy. The concept of this book was guided by the desire to provide some help to the ultrasound operators. On a daily basis, they are confronted with the challenging task of ruling out or suspecting/confirming the diagnosis of fetal anomalies, either structural or chromosomal. The chapters of this book contain objective and exhaustive updated reviews of the pertinent literature, so that the reader would have a wide reference basis on each subject. Yet, many authors scan the fetus themselves or are directly involved with managing pregnancies with structural malformations or chromosomal anomalies. They kindly shared their personal experience and lessons learned over the years. This book is beneficial for all the professionals working in the prenatal diagnosis.

Download or read book Inheritance of Kidney and Urinary Tract Diseases written by Adrian Spitzer and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic disorders have emerged as a prominent cause of morbidity and mor tality among infants and adults. As many as 10% to 20% of hospital admis sions and at least 10% of the mortality in this age group are due to inherited diseases. There are at least two factors that have brought genetic disorders into the forefront of pediatrics. One is a great reduction in childhood mortality due to infections and nutritional deficiency states, and the other is the rapid progress made in the identification of genetic defects. Amniocentesis, chorionic villus sampling, and recombinant DNA technology have already had a tremendous impact on the practice of medicine. This is why the first two chapters of this volume are dedicated to general principles of molecular genetics and to a description of the techniques used to diagnose genetic disorders at the DNA level. The relevance of this new area of science to the study of inherited renal diseases is reflected in the large body of knowledge that has been generated regarding the association between various glomerular nephritides and genetic markers such as the HLA system, and even more impressively in the direct or indirect identification of abnormal genes or gene products in Alport's syn drome, autosomal dominant polycystic kidney disease, and Lowe's syndrome. These discoveries figure prominently in the pages of this book. Yet, the progress we have made has barely scratched the surface of the problem.

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 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 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.

Download or read book Normal and Abnormal Development of the Kidney written by Edith Louise Potter and published by . This book was released on 1972 with total page 328 pages. Available in PDF, EPUB and Kindle. Book excerpt:

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.

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 Handbook of Fetal Medicine written by Sailesh Kumar and published by Cambridge University Press. This book was released on 2010-07-01 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Handbook of Fetal Medicine provides a concise and practical guide to the modern management of normal pregnancy and the at-risk fetus. Comprehensive in scope, in an easy-to-use format, the book provides guidance on a wide range of conditions, best practice management strategies and treatment options in maternal-fetal medicine. Each system-based chapter has a brief introduction on embryology and discusses the key genetic developments and relevant developmental abnormalities. The book begins by addressing genetic disorders such as Down syndrome, and goes on to consider skeletal and bodily system abnormalities. All key management points are highlighted and data on long-term outcomes are provided. This book will appeal to maternal-fetal medicine specialists, subspecialty trainees, obstetricians and midwives as a useful practical reference tool in daily practice. It is particularly suitable for trainees in Obstetrics & Gynaecology preparing for the post graduate examinations.

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 Hereditary Hearing Loss and Its Syndromes written by Helga V. Toriello and published by Oxford University Press. This book was released on 2013-06-20 with total page 576 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular diagnosis and on genetic susceptibility to ototoxic factors have been added. As in previous editions, the syndromes are grouped by system (visual, metabolic, cardiologic, neurologic, musculoskeletal, endocrine, etc.), with each chapter written by a recognized expert in the field. Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and for researchers in the hearing sciences.