Molecular and Genetic Basis of Renal Disease

Molecular and Genetic Basis of Renal Disease
Author: David B. Mount,Martin R. Pollak
Publsiher: Elsevier Health Sciences
Total Pages: 604
Release: 2008-01-01
ISBN: 1416002529
Category: Medical
Language: EN, FR, DE, ES & NL

Molecular and Genetic Basis of Renal Disease 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.

The Molecular and Genetic Basis of Neurologic and Psychiatric Disease

The Molecular and Genetic Basis of Neurologic and Psychiatric Disease
Author: Roger N. Rosenberg
Publsiher: Lippincott Williams & Wilkins
Total Pages: 930
Release: 2008
ISBN: 9780781769563
Category: Medical
Language: EN, FR, DE, ES & NL

The Molecular and Genetic Basis of Neurologic and Psychiatric Disease Book Excerpt:

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)

Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease

Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease
Author: Roger N. Rosenberg,Juan M. Pascual
Publsiher: Elsevier
Total Pages: 1464
Release: 2014-10-28
ISBN: 0124105491
Category: Medical
Language: EN, FR, DE, ES & NL

Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease Book Excerpt:

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 Kidney

The Kidney
Author: Peter D. Vize,Adrian S. Woolf,Jonathan B. L. Bard
Publsiher: Unknown
Total Pages: 519
Release: 2003
ISBN: 9780127224411
Category: Medical
Language: EN, FR, DE, ES & NL

The Kidney 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. Key Features * 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
Author: Jess G. Thoene
Publsiher: Cambridge University Press
Total Pages: 239
Release: 2010-08-23
ISBN: 0521517818
Category: Medical
Language: EN, FR, DE, ES & NL

Small Molecule Therapy for Genetic Disease Book Excerpt:

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
Author: United States. Congress. House. Committee on Appropriations. Subcommittee on the Departments of Labor, Health and Human Services, Education, and Related Agencies
Publsiher: Unknown
Total Pages: 1188
Release: 1993
ISBN: 1928374650XXX
Category: United States
Language: EN, FR, DE, ES & NL

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

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
Author: United States. Congress. Senate. Committee on Appropriations. Subcommittee on Departments of Labor, Health and Human Services, Education, and Related Agencies
Publsiher: Unknown
Total Pages: 1152
Release: 1993
ISBN: 1928374650XXX
Category: United States
Language: EN, FR, DE, ES & NL

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

Genetics of Endocrine Diseases and Syndromes

Genetics of Endocrine Diseases and Syndromes
Author: Peter Igaz,Attila Patócs
Publsiher: Springer Nature
Total Pages: 473
Release: 2019-10-06
ISBN: 3030259056
Category: Science
Language: EN, FR, DE, ES & NL

Genetics of Endocrine Diseases and Syndromes Book Excerpt:

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.

Practical Renal Pathology A Diagnostic Approach E Book

Practical Renal Pathology  A Diagnostic Approach E Book
Author: Donna J. Lager,Neil Abrahams
Publsiher: Elsevier Health Sciences
Total Pages: 401
Release: 2012-11-07
ISBN: 1455737860
Category: Medical
Language: EN, FR, DE, ES & NL

Practical Renal Pathology A Diagnostic Approach E Book Book Excerpt:

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.

Genetics of Bone Biology and Skeletal Disease

Genetics of Bone Biology and Skeletal Disease
Author: Rajesh V. Thakker,Michael P. Whyte,John Eisman,Takashi Igarashi
Publsiher: Academic Press
Total Pages: 878
Release: 2017-10-31
ISBN: 0128041986
Category: Medical
Language: EN, FR, DE, ES & NL

Genetics of Bone Biology and Skeletal Disease Book Excerpt:

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

Departments of Labor Health and Human Services and Education and Related Agencies Appropriations for Fiscal Year 1994 Action Corporation for Public Broadcasting Dept 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  Dept  of Health and Human Services
Author: United States. Congress. Senate. Committee on Appropriations. Subcommittee on Departments of Labor, Health and Human Services, Education, and Related Agencies
Publsiher: Unknown
Total Pages: 1158
Release: 1993
ISBN: 1928374650XXX
Category: United States
Language: EN, FR, DE, ES & NL

Departments of Labor Health and Human Services and Education and Related Agencies Appropriations for Fiscal Year 1994 Action Corporation for Public Broadcasting Dept of Health and Human Services Book Excerpt:

Genetic Manipulation of the Kidney

Genetic Manipulation of the Kidney
Author: Masanori Kitamura
Publsiher: S Karger Ag
Total Pages: 69
Release: 1997
ISBN: 9783805564809
Category: Medical
Language: EN, FR, DE, ES & NL

Genetic Manipulation of the Kidney Book Excerpt:

Progress in gene transfer technology has established the scientific basis for molecular approaches to human diseases. The first trial of somatic cell gene transfer in the kidney was reported in 1991, and several strategies have been developed during the past five years. Gene delivery into specific renal structures allows for evaluation of in vivo effects of specific molecules on particular functions of the kidney. It will ultimately also be useful for intervention in renal diseases by introducing therapeutically relevant genes into the affected sites. Towards achieving these goals, experimental approaches have utilized liposomes, viral vectors, and cell vector systems. In vivo gene delivery into certain renal structures is feasible using these gene transfer vectors. Germ line manipulation, including generation of 'transgenic' and 'knockout' animals, is also becoming a promising and reliable tool. This publication is the first to review the current status of gene transfer approaches to the kidney. Leading experts in this new research field summarize knowledge to date, consider potential applications, and discuss progress and problems.

Replacement of Renal Function by Dialysis

Replacement of Renal Function by Dialysis
Author: Walter H. Hörl,Karl-Martin Koch,Robert M. Lindsay,C. Ronco,J.F. Winchester
Publsiher: Springer Science & Business Media
Total Pages: 1604
Release: 2013-06-05
ISBN: 1402022751
Category: Medical
Language: EN, FR, DE, ES & NL

Replacement of Renal Function by Dialysis 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.

Biomedical Index to PHS supported Research

Biomedical Index to PHS supported Research
Author: Anonim
Publsiher: Unknown
Total Pages: 864
Release: 1990
ISBN: 1928374650XXX
Category: Medicine
Language: EN, FR, DE, ES & NL

Biomedical Index to PHS supported Research Book Excerpt:

Brenner and Rector s The Kidney E Book

Brenner and Rector s The Kidney E Book
Author: Alan S. L. Yu,Glenn M. Chertow,Valerie Luyckx,Philip A. Marsden,Karl Skorecki,Maarten W. Taal
Publsiher: Elsevier Health Sciences
Total Pages: 3585
Release: 2015-10-25
ISBN: 0323262597
Category: Medical
Language: EN, FR, DE, ES & NL

Brenner and Rector s The Kidney E Book Book Excerpt:

Overcome the toughest clinical challenges in nephrology with Brenner & Rector’s The Kidney -- the most well-known nephrology resource in the world. A diverse team of more than 200 international contributors brings you the latest knowledge and best practices on every front in nephrology worldwide. From basic science and pathophysiology to clinical best practices, Brenner & Rector’s The Kidney is your go-to resource for any stage of your career. Review of the basic science that underpins clinical nephrology, comprehensive selection of the most important bibliographical sources in nephrology, and Board Review-style questions help you prepare for certification or recertification. Coverage of kidney health and disease from pre-conception through fetal and infant health, childhood, adulthood, and into old age. Expanded sections and chapter on global perspective and ethical considerations. Uniform terminology and nomenclature in line with emerging consensus in world kidney community. More than 700 full-color high-quality photographs as well as carefully chosen figures, algorithms, and tables to illustrate essential concepts, nuances of clinical presentation and technique, and decision making provide a visual grasp and better understanding of critical information. Internationally diverse, trusted guidance and perspectives from a team of well-respected global contributors . An editorial team headed by Dr. Skorecki and handpicked by Dr. Brenner ensures the ongoing adherence to previous standards of excellence. All chapters have been extensively updated or entirely rewritten by authorities in their respective fields. The latest clinical information including recent clinical trials, genetic causes of kidney disease, cardiovascular and renal risk prediction in chronic kidney disease, new paradigms in fluid and electrolyte management, and pediatric kidney disease, keep you current with the rapid development of care and research worldwide.

Molecular Genetic Testing in Surgical Pathology

Molecular Genetic Testing in Surgical Pathology
Author: John D. Pfeifer
Publsiher: Lippincott Williams & Wilkins
Total Pages: 530
Release: 2006
ISBN: 9780781747486
Category: Medical
Language: EN, FR, DE, ES & NL

Molecular Genetic Testing in Surgical Pathology Book Excerpt:

Written by experts from Washington University School of Medicine, this text is a thorough review of the specific molecular genetic techniques that can provide diagnostically useful molecular genetic information on tissue samples—including cytogenetics, fluorescence in situ hybridization (FISH), PCR, electrophoresis and hybridization analysis, DNA sequence analysis, and microarrays. The first part of the book describes each technique, indicates its advantages, disadvantages, capabilities, and limitations, and systematically addresses sensitivity and specificity issues. Subsequent chapters, organized by organ system, detail the specific applications of these tests in surgical pathology. More than 150 full-color and black-and-white illustrations complement the text.

Genetics of Obesity Syndromes

Genetics of Obesity Syndromes
Author: Philip R. Beales,I. Sadaf Farooqi,Stephen O'Rahilly
Publsiher: Oxford University Press
Total Pages: 304
Release: 2008-08-29
ISBN: 0199719861
Category: Medical
Language: EN, FR, DE, ES & NL

Genetics of Obesity Syndromes Book Excerpt:

Obesity is one of the most important contributing factors to disease throughout the world and is an area of great current interest among researchers and clinicians. The genetics of common obesity is complex, and an important thread through this labyrinth is the study of genetic syndromes in which obesity is a major component. By examining the genetic mechanisms of obesity in these syndromes, the authors will shed new light on the genetics of common obesity. This is the first book on this important and exciting new area and addreses both the molecular and clinical features of the obesity syndromes, providing hard-core information for researchers and practical guidelines for clinicians caring for obese patients. The book is divided into three sections: the first covers approaches for assessing and investigating the obese individual; the second describes nondysmorphic, monogenic forms of obesity; and the third documents key, multisystem obesity syndromes with various genetic etiologies. It is as much a reference book as it is a manual and will appeal to clinical geneticists, obesity researchers, endocrinologists, nutritionists, and medical biologists.

Nutritional Management of Renal Disease

Nutritional Management of Renal Disease
Author: Joel D. Kopple,Shaul G Massry,Kamyar Kalantar-Zadeh,Denis Fouque
Publsiher: Academic Press
Total Pages: 1040
Release: 2021-10-08
ISBN: 0128185414
Category: Health & Fitness
Language: EN, FR, DE, ES & NL

Nutritional Management of Renal Disease Book Excerpt:

Nutritional Management of Renal Disease, Fourth Edition, offers in-depth reviews of the metabolic and nutritional disorders prevalent in patients with renal disease and serves as an in-depth reference source concerning nutrition and kidney disease. This classic translational reference provides correct diagnosis - and therefore correct treatment - of renal, metabolic, and nutritional disorders. Nephrologists, diebetologists, endocrinologists, dieticians, and nutritionists depend on a strong understanding of the molecular basis for the disease. This fourth edition includes thorough new case reports, offering expert advice on how to use the latest research and clinical findings in counseling patients about dietary and lifestyle options. Readers gain insight into which treatments, medications, and diets to use based on the history, progression, and genetic make-up of a patient. Includes the latest comprehensive KDOQI clinical practice guidelines for the nutritional management of kidney disease from the National Kidney Foundation and the Academy of Nutrition and Dietetics, covering recommendations for each essential nutrient, as well as for some nonessential nutrients Presents a comprehensive, translational look at all aspects of metabolic and nutritional disorders in one reference Provides a common language for nephrologists, nutritionists, endocrinologists, and other interested physicians to assimilate information and discuss the underlying research and translation of best practices for the nutritional management and prevention of renal disease Saves clinicians and researchers time in quickly accessing the very latest details on nutritional practice as opposed to searching through thousands of journal articles. ~

A Short History of Medical Genetics

A Short History of Medical Genetics
Author: Peter S. Harper
Publsiher: Oxford University Press
Total Pages: 576
Release: 2008-10-24
ISBN: 0199720134
Category: Medical
Language: EN, FR, DE, ES & NL

A Short History of Medical Genetics Book Excerpt:

An eminent geneticist, veteran author, OMMG Series Editor, and noted archivist, Peter Harper presents a lively account of how our ideas and knowledge about human genetics have developed over the past century from the perspective of someone inside the field with a deep interest in its historical aspects. Dr. Harper has researched the history of genetics and has had personal contact with a host of key figures whose memories and experiences extend back 50 years, and he has interviewed and recorded conversations with many of these important geneticists. Thus, rather than being a conventional history, this book transmits the essence of the ideas and the people involved and how they interacted in advancing- and sometimes retarding- the field. From the origins of human genetics; through the contributions of Darwin, Mendel, and other giants; the identification of the first human chromosome abnormalities; and up through the completion of the Human Genome project, this Short History is written in the author's characteristic clear and personal style, which appeals to geneticists and to all those interested in the story of human genetics.

Molecular Mechanisms and Their Clinical Application in Malignancies

Molecular Mechanisms and Their Clinical Application in Malignancies
Author: Daniel E. Bergsagel,Tak W. Mak
Publsiher: Elsevier
Total Pages: 292
Release: 2013-10-22
ISBN: 148326209X
Category: Health & Fitness
Language: EN, FR, DE, ES & NL

Molecular Mechanisms and Their Clinical Application in Malignancies Book Excerpt:

Molecular Mechanisms and their Clinical Application in Malignancies is a collection of manuscripts presented at the 12th Annual Bristol-Myers Squibb Symposium on Cancer Research, held in Toronto, Canada on September 26-27, 1989. This symposium reviews the current understanding of the mechanisms of malignant transformation and the application of several technologies to the diagnosis, evaluation, and treatment of malignancies. This book is divided into 14 chapters. The opening chapters deal with the genetic basis of neoplasia and the molecular biology of oncogenes, the regulation of transcription, and the rearrangement of T- and B-cell genes during development and in malignancies. The subsequent chapters focus on the genetic abnormalities detected in specific tumors, such as retinoblastoma, colorectal carcinoma, and lung cancer. These chapters also examine the retinoid and thyroid hormone receptors. Other chapters explore the genetic basis of the cellular response to therapy, drug resistance, cachectin-tumor necrosis factor in the biology of disease, acute myelogenous leukemia, and the stages in tumor progression. The final chapters look into the application of molecular biology to clinical treatment in the form of receptor specific intoxication on tumor cells, the molecular genetic analysis of the phakomycoses, and the structural design of antitumor compounds. This book will prove useful to oncologists, molecular biologists, clinicians, and researchers.