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Molecular And Genetic Basis Of Renal Disease

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Molecular and Genetic Basis of Renal Disease

Molecular and Genetic Basis of Renal Disease Book
Author : David B. Mount,Martin R. Pollak
Publisher : Elsevier Health Sciences
Release : 2008
ISBN : 1416002529
Language : En, Es, Fr & De

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Book Description :

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.

Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease

Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease Book
Author : Roger N. Rosenberg,Juan M. Pascual
Publisher : Elsevier
Release : 2014-10-28
ISBN : 0124105491
Language : En, Es, Fr & De

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Book Description :

Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations

The Molecular and Genetic Basis of Neurologic and Psychiatric Disease

The Molecular and Genetic Basis of Neurologic and Psychiatric Disease Book
Author : Roger N. Rosenberg
Publisher : Lippincott Williams & Wilkins
Release : 2008
ISBN : 9780781769563
Language : En, Es, Fr & De

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Book Description :

Completely updated for its Fourth Edition, this book is the most comprehensive, current review of the molecular and genetic basis of neurologic and psychiatric diseases. More than 120 leading experts provide a fresh, new assessment of recent molecular, genetic, and genomic advances, offer new insights into disease pathogenesis, describe the newest available therapies, and explore promising areas of therapeutic development. This edition features an updated section on psychiatric disease and expanded, updated chapters on human genomics, gene therapy, and ethical issues. Six new chapters cover congenital myasthenic syndromes, hereditary spastic paraplegia, ion channel disorders, the phakomatoses, beta-galactosidase deficiency, and prion diseases. A Neurologic Gene Map describes the chromosome locus of all the genetic diseases and their gene product where known. The fully searchable online text will be available on a companion Website. (www.rosenbergneuroandpsychdisease.com)

The Kidney

The Kidney Book
Author : Peter D. Vize,Adrian S. Woolf,Jonathan B.L. Bard
Publisher : Elsevier
Release : 2003-03-14
ISBN : 9780080521541
Language : En, Es, Fr & De

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Book Description :

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

Small Molecule Therapy for Genetic Disease

Small Molecule Therapy for Genetic Disease Book
Author : Jess G. Thoene
Publisher : Cambridge University Press
Release : 2010-08-23
ISBN : 0521517818
Language : En, Es, Fr & De

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Book Description :

Thoene summarises the substantial work that has been accomplished in the treatment of inborn errors of metabolism with simple molecules. This handbook will enable interested clinician scientists to rapidly survey the field, thus ascertaining what has been done as well as future directions for therapeutic research. Its important introductory chapters discuss the infrastructure of the field. The book closely analyses the cofactors used to augment the function of defective enzymes and the compounds that are able to utilise an alternative pathway in order to avoid the consequences of the metabolic block present in the patient. Among other therapies, the authors discuss the use of zinc and tetrathiomolybdate to treat Wilson's disease and the use of cysteamine to treat nephropathic cystinosis.

Departments of Labor Health and Human Services Education and Related Agencies Appropriations for 1994

Departments of Labor  Health and Human Services  Education  and Related Agencies Appropriations for 1994 Book
Author : United States. Congress. House. Committee on Appropriations. Subcommittee on the Departments of Labor, Health and Human Services, Education, and Related Agencies
Publisher : Unknown
Release : 1993
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Departments of Labor Health and Human Services Education and Related Agencies Appropriations for 1994 book written by United States. Congress. House. Committee on Appropriations. Subcommittee on the Departments of Labor, Health and Human Services, Education, and Related Agencies, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Departments of Labor Health and Human Services and Education and Related Agencies Appropriations for Fiscal Year 1994

Departments of Labor  Health and Human Services  and Education  and Related Agencies Appropriations for Fiscal Year 1994 Book
Author : United States. Congress. Senate. Committee on Appropriations. Subcommittee on Departments of Labor, Health and Human Services, Education, and Related Agencies
Publisher : Unknown
Release : 1993
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Departments of Labor Health and Human Services and Education and Related Agencies Appropriations for Fiscal Year 1994 book written by United States. Congress. Senate. Committee on Appropriations. Subcommittee on Departments of Labor, Health and Human Services, Education, and Related Agencies, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Practical Renal Pathology A Diagnostic Approach E Book

Practical Renal Pathology  A Diagnostic Approach E Book Book
Author : Donna J. Lager,Neil Abrahams
Publisher : Elsevier Health Sciences
Release : 2012-11-07
ISBN : 1455737860
Language : En, Es, Fr & De

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Book Description :

Practical Renal Pathology helps you apply a systematic pattern recognition approach to achieve more accurate diagnoses of both neoplastic and non-neoplastic diseases of the kidneys. This volume in the Pattern Recognition Series helps you to efficiently and confidently evaluate even the most challenging histologic specimens. Consult this title on your favorite e-reader with intuitive search tools and adjustable font sizes. Elsevier eBooks provide instant portable access to your entire library, no matter what device you're using or where you're located. Compare your specimens to commonly seen patterns, categorize them accordingly, and turn directly to in-depth diagnostic guidance using the unique, pattern-based Visual Index at the beginning of the book. Assess key pathologic and clinical aspects of both neoplastic and non-neoplastic conditions with over 750 high-quality, full-color images that help you evaluate and interpret biopsy samples. Benefit from expert guidance in key areas such as renal biopsy interpretation, handling of nephrectomy specimens, pathology relevant to renal transplantation, and pathology of unusual renal neoplasms. Progress logically from the histologic pattern, through the appropriate workup, around the pitfalls, to the best diagnosis.

Ultrasound Imaging in Acute and Chronic Kidney Disease

Ultrasound Imaging in Acute and Chronic Kidney Disease Book
Author : M. Meola,I. Petrucci,C. Ronco
Publisher : Karger Medical and Scientific Publishers
Release : 2016-05-13
ISBN : 331805884X
Language : En, Es, Fr & De

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Book Description :

Ultrasound imaging techniques are an indispensable complement to physical examination, which is often frustrating, if not useless, for diagnosing kidney problems. The application of ultrasound techniques in clinical routine helps clinicians to rule out, at first glance, some serious pathological conditions and to concentrate on the accurate diagnosis of the patient. Moreover, sonography can extend the spectrum of diagnostic criteria in acute kidney diseases. It makes it possible to determine morphological parameters without potentially toxic contrast media while exploring functional aspects with contrast enhanced or Doppler ultrasound techniques. This publication meets a growing demand for current information among physicians and nurses in the field. With a focus on the daily practice of diagnosing kidney disease, it is an important resource for both beginner and advanced users of ultrasound imaging techniques.

National Kidney Foundation Primer on Kidney Diseases E Book

National Kidney Foundation Primer on Kidney Diseases E Book Book
Author : Scott Gilbert,Daniel E. Weiner
Publisher : Elsevier Health Sciences
Release : 2013-07-02
ISBN : 0323186505
Language : En, Es, Fr & De

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Book Description :

The National Kidney Foundation Primer on Kidney Diseases is your ideal companion in clinical nephrology! From anatomy, histology, and physiology, through the diagnosis and management of kidney disease, fluid and electrolyte disorders, hypertension, dialysis, and kidney transplantation, this trusted manual from Elsevier and the National Kidney Foundation provides an accessible, efficient overview of kidney diseases that’s perfect for residency, fellowship, clinical practice, and board review. Incorporate the latest NKF Kidney/ Outcome Quality Initiative guidelines on chronic kidney disease staging and management. Review the basics with a current and practical review of the anatomy, physiology, pathophysiology, diagnosis, and management of kidney disease, fluid and electrolyte disorders, hypertension, dialysis, and renal transplantation.

Absolute Nephrology Review

Absolute Nephrology Review Book
Author : Alluru S. Reddi
Publisher : Springer Nature
Release : 2022-01-27
ISBN : 3030859584
Language : En, Es, Fr & De

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Book Description :

Written in a succinct question and answer format, this comprehensive book is a resource on all areas of nephrology and common clinical scenarios. The updated volume covers the basic physiology of fluids, electrolytes and acid-base problems, renal disorders and management, chronic kidney disease, hypertension, and other essential subjects. The nearly 1000 detailed questions and answers prepare readers for nephrology and internal medicine boards and provide a better understanding of nephrology as a whole. This new edition of Absolute Nephrology Review features the latest evidence and guidelines needed by nephrology fellows, practicing nephrologists, and clinicians.

Genetics for Rheumatologists

Genetics for Rheumatologists Book
Author : Matthew A. Brown,Matthew Brown,Julia L. Newton,B. Paul Wordsworth
Publisher : Remedica
Release : 2002
ISBN : 1901346315
Language : En, Es, Fr & De

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Book Description :

Annotation Trainee and practicing rheumatologists The study of disease genetics arguably began in rheumatology, with the description of the hereditary basis of alkaptonuria by Garrod in 1902, and the introduction of the concept of in-born errors of metabolism. A large proportion of the diseases seen by rheumatologists have genetic influences. The dissection of the genetic basis of rheumatic diseases has moved rapidly over the past 15 years. Increasingly, rheumatologists are being asked the question "How likely is it that my children will develop the disease I have?', and about the utility of genetic testing for those diseases. This book is not a hefty tome full of genetics jargon, but a quick reference source for doctors written to help answer those questions.

Primer on Kidney Diseases E Book

Primer on Kidney Diseases E Book Book
Author : Arthur Greenberg
Publisher : Elsevier Health Sciences
Release : 2009-02-18
ISBN : 1437721109
Language : En, Es, Fr & De

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Book Description :

This official publication of the National Kidney Foundation (NKF) covers all aspects of adult and pediatric kidney diseases and is ideal for nephrologists and non-nephrologists alike. The full-color design, high-quality photographs, and outstanding graphs and tables make information easy to access and understand. The latest management techniques and pearls from leading clinical experts—including international contributors—offer practical and authoritative guidance. Edited by Dr. Arthur Greenberg and members of the NKF Scientific Advisory Board, this state-of-the-art primer provides consistent depth of coverage, balanced discussion of controversy, and a uniform focus of information. Incorporates the latest NKF Kidney/Outcome Quality Initiative (K/DOQI) guidelines on chronic kidney disease staging and management. Features a current and practical review of the anatomy, physiology, pathophysiology, diagnosis, and management of kidney disease, fluid and electrolyte disorders, hypertension, dialysis, and renal transplantation. Covers the whole field of nephrology in concise and well-illustrated, four-color chapters. Puts complex material and the latest developments into perspective for in-depth, yet succinct summaries in every area. Includes high-quality photographs, as well as outstanding graphs and tables for a varied approach to the subject matter. new chapters on Disorders of Magnesium Homeostasis and Thombotic Microangiopathies to reflect advances in management. Includes the most up-to-date management guidelines and pearls of wisdom to provide you with best practices. Presents new ideas and perspectives through 25% new contributing clinical experts.

Genetics of Endocrine Diseases and Syndromes

Genetics of Endocrine Diseases and Syndromes Book
Author : Peter Igaz,Attila Patócs
Publisher : Springer Nature
Release : 2019-10-06
ISBN : 3030259056
Language : En, Es, Fr & De

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Book Description :

This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.

Genetics for Pulmonologists

Genetics for Pulmonologists Book
Author : Jordan Prutkin,Joel Moss
Publisher : Remedica
Release : 2002-01-01
ISBN : 1901346455
Language : En, Es, Fr & De

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Book Description :

Our understanding of the relationship between genetics and pulmonary disorders is still developing. 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. This is proving to be an engaging area of investigation for many medical professionals, with research into the effects of these genetic variations on various diseases in progress. Genetics for Pulmonologists provides an overview of lung diseases for which the genetic defect has been defined as of June 2001. It is an easy-to-use manual with concise reviews of genetic diseases that a pulmonologist might encounter.

Departments of Labor Health and Human Services and Education and Related Agencies Appropriations for Fiscal Year 1994 Action Corporation for Public Broadcasting Department of Health and Human Services

Departments of Labor  Health and Human Services  and Education  and Related Agencies Appropriations for Fiscal Year 1994  Action  Corporation for Public Broadcasting  Department of Health and Human Services Book
Author : United States. Congress. Senate. Committee on Appropriations. Subcommittee on Departments of Labor, Health and Human Services, Education, and Related Agencies
Publisher : Unknown
Release : 1993
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

Download Departments of Labor Health and Human Services and Education and Related Agencies Appropriations for Fiscal Year 1994 Action Corporation for Public Broadcasting Department of Health and Human Services book written by United States. Congress. Senate. Committee on Appropriations. Subcommittee on Departments of Labor, Health and Human Services, Education, and Related Agencies, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Genetics of Bone Biology and Skeletal Disease

Genetics of Bone Biology and Skeletal Disease Book
Author : Rajesh V. Thakker,Michael P. Whyte,John Eisman,Takashi Igarashi
Publisher : Academic Press
Release : 2017-10-31
ISBN : 0128041986
Language : En, Es, Fr & De

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Book Description :

Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder

Primer on Kidney Diseases

Primer on Kidney Diseases Book
Author : Arthur Greenberg,Alfred K. Cheung
Publisher : Elsevier Health Sciences
Release : 2005
ISBN : 1416023127
Language : En, Es, Fr & De

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Book Description :

An official publication of the National Kidney Foundation (NKF), the book provides a current overview of the pathophysiology, diagnosis, and management of kidney diseases, fluid and electrolyte disorders, hypertension, dialysis, and kidney transplantation. Includes new chapters on pathogenesis and pathophysiology of diabetic nephropathy and genetic basis of glomerular and structural kidney disorders.

Replacement of Renal Function by Dialysis

Replacement of Renal Function by Dialysis Book
Author : Walter H. Hörl,Karl-Martin Koch,Robert M. Lindsay,C. Ronco,J.F. Winchester
Publisher : Springer Science & Business Media
Release : 2013-06-05
ISBN : 1402022751
Language : En, Es, Fr & De

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Book Description :

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.

Genetic Diseases of the Kidney

Genetic Diseases of the Kidney Book
Author : Richard P. Lifton,Stefan Somlo,Gerhard H. Giebisch,Donald W. Seldin
Publisher : Academic Press
Release : 2009-02-25
ISBN : 9780080924274
Language : En, Es, Fr & De

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Book Description :

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)