Molecular and Genetic Basis of Renal Disease

Molecular and Genetic Basis of Renal Disease
Author: David B. Mount
Publisher: Elsevier Health Sciences
Total Pages: 604
Release: 2008-01-01
Genre: Medical
ISBN: 1416002529

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.

Molecular and Genetic Basis of Renal Disease E-Book

Molecular and Genetic Basis of Renal Disease E-Book
Author: David B. Mount
Publisher: Elsevier Health Sciences
Total Pages: 606
Release: 2007-10-25
Genre: Medical
ISBN: 1437710379

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.

Genetics of Bone Biology and Skeletal Disease

Genetics of Bone Biology and Skeletal Disease
Author: Rajesh V. Thakker
Publisher: Academic Press
Total Pages: 880
Release: 2017-10-31
Genre: Science
ISBN: 0128041986

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

Kidney Development, Disease, Repair and Regeneration

Kidney Development, Disease, Repair and Regeneration
Author: Melissa Helen Little
Publisher: Academic Press
Total Pages: 615
Release: 2015-08-06
Genre: Science
ISBN: 012800438X

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

Molecular Pathology

Molecular Pathology
Author: William B. Coleman
Publisher: Academic Press
Total Pages: 805
Release: 2017-11-09
Genre: Medical
ISBN: 0128027878

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

Cystogenesis

Cystogenesis
Author: Jong Hoon Park
Publisher: Springer
Total Pages: 128
Release: 2016-10-12
Genre: Medical
ISBN: 9811020418

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.

National Kidney Foundation Primer on Kidney Diseases E-Book

National Kidney Foundation Primer on Kidney Diseases E-Book
Author: Scott Gilbert
Publisher: Elsevier Health Sciences
Total Pages: 687
Release: 2013-07-02
Genre: Medical
ISBN: 0323186505

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.

Nutritional Management of Renal Disease

Nutritional Management of Renal Disease
Author: Joel D. Kopple
Publisher: Academic Press
Total Pages: 833
Release: 2012-12-31
Genre: Technology & Engineering
ISBN: 0123919355

This translational text offers in-depth reviews of the metabolic and nutritional disorders that are prevalent in patients with renal disease. Chapter topics address the growing epidemic of obesity and metabolic syndrome. Each chapter integrates basic and clinical approaches, from cell biology and genetics to diagnosis, patient management and treatment. Chapters in sections 4-7 include new illustrative case reports, and all chapters emphasize key concepts with chapter-ending summaries. New features also include the latest National Kidney Foundation Clinical Practice Guidelines on Nutrition in Chronic Renal Failure, the most recent scientific discoveries and the latest techniques for assessing nutritional status in renal disease, and literature reviews on patients who receive continuous veno-venous hemofiltration with or without dialysis. - Provides a common language for nephrologists, nutritionists, endocrinologists, and other interested physicians to 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 - Correct diagnosis (and therefore correct treatment) of renal, metabolic, and nutritional disorders depends on a strong understanding of the molecular basis for the disease – both nephrologists and nutritionists will benefit - Nephrologists and nutritionists will gain insight into which treatments, medications, and diets to use based on the history, progression, and genetic make-up of a patient - Case Reports will offer an added resource for fellows, nutritionists, and dieticians who need a refresher course

Practical Renal Pathology, A Diagnostic Approach E-Book

Practical Renal Pathology, A Diagnostic Approach E-Book
Author: Donna J. Lager
Publisher: Elsevier Health Sciences
Total Pages: 401
Release: 2012-11-07
Genre: Medical
ISBN: 1455737860

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.

Biochemical and Molecular Basis of Pediatric Disease

Biochemical and Molecular Basis of Pediatric Disease
Author: Edward C.C. Wong
Publisher: Academic Press
Total Pages: 1172
Release: 2021-05-13
Genre: Science
ISBN: 0128179635

Biochemical and Molecular Basis of Pediatric Disease, Fifth Edition has been a well-respected reference in the field for decades. This revision continues the strong focus on understanding the pathogenesis of pediatric disease, emphasizing not only the important role of the clinical laboratory in defining parameters that change with the disease process, but also the molecular basis of many pediatric diseases. - Provides a fully-updated resource with more color illustrations - Focuses on the biochemical and molecular basis of disease as well as the analytical techniques - Defines important differences in the pathophysiology of diseases, comparing childhood with adult