Download or read book Hereditary Tyrosinemia written by Robert M. Tanguay and published by Springer. This book was released on 2017-07-27 with total page 247 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hereditary tyrosinemia type 1 (HT1), the most severe inborn error of the tyrosine degradation pathway, is due to a deficiency in fumarylacetoacetate hydrolase (FAH). The worldwide frequency of HT1 is one per 100,000 births, but some regions have a significantly higher incidence (1:1,800). The FAH defect results in the accumulation of toxic metabolites, mainly in the liver. If left untreated, HT1 is usually fatal before the age of two. HT1 patients develop several chronic complications including cirrhosis with a high risk of hepatocellular carcinoma (HCC) and neuropsychological impairment. Treatment comprises an inhibitor of the pathway, Nitisinone, a strict dietary treatment or liver transplantation. Early treatment is important to avoid HCC. The book includes the latest developments on the molecular basis of HT1, its pathology, screening and diagnosis and management of the disease written by leading scientists, geneticists, hepatologists and clinicians in the field.

Download or read book Liver Disease in Children written by Frederick J. Suchy and published by Cambridge University Press. This book was released on 2007-05-07 with total page 995 pages. Available in PDF, EPUB and Kindle. Book excerpt: Completely revised new edition of the premier reference on pediatric liver disease. Liver Disease in Children, 3rd Edition provides authoritative coverage of every aspect of liver disease affecting infants, children, and adolescents. The book offers an integrated approach to the science and clinical practice of pediatric hepatology and charts the substantial progress in understanding and treating these diseases. Chapters are written by international experts and address the unique pathophysiology, manifestations, and management of these disorders in the pediatric population. The third edition has been thoroughly updated and features new contributions on liver development, cholestatic and autoimmune disorders, fatty liver disease, and inborn errors of metabolism. With the continued evolution of pediatric hepatology as a discipline, this text remains an essential reference for all physicians involved in the care of children with liver disease.

Download or read book Inborn Metabolic Diseases written by K. Tada and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.

Download or read book The Metabolic Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.

Download or read book Physician s Guide to the Treatment and Follow Up of Metabolic Diseases written by Nenad Blau and published by Springer Science & Business Media. This book was released on 2006-01-16 with total page 404 pages. Available in PDF, EPUB and Kindle. Book excerpt: This reference provides concise information on the treatment and management of inherited metabolic diseases for the clinician. World experts cover all commonalities of therapy giving practical advice and guidance for daily practice. All established treatment protocols in this quickly developing area of medicine are clearly described, including follow-up protocols and monitoring. Alternative and experimental therapies are also described and evaluated. Numerous tables, figures, and several indices (symptom, disease name, tests, etc.) allow rapid access to specific details. This book is invaluable to anyone dealing with patients with inherited metabolic diseases, pediatricians, internists, neurologists, and clinical geneticists.

Download or read book Genome Editing in Neurosciences written by Rudolf Jaenisch and published by . This book was released on 2020-10-08 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: Innovations in molecular biology are allowing neuroscientists to study the brain with unprecedented resolution, from the level of single molecules to integrated gene circuits. Chief among these innovations is the CRISPR-Cas genome editing technology, which has the precision and scalability to tackle the complexity of the brain. This Colloque Médecine et Recherche has brought together experts from around the world that are applying genome editing to address important challenges in neuroscience, including basic biology in model organisms that has the power to reveal systems-level insight into how the nervous system develops and functions as well as research focused on understanding and treating human neurological disorders. This work was published by Saint Philip Street Press pursuant to a Creative Commons license permitting commercial use. All rights not granted by the work's license are retained by the author or authors.

Download or read book Liver Anesthesiology and Critical Care Medicine written by Gebhard Wagener and published by Springer. This book was released on 2018-04-11 with total page 536 pages. Available in PDF, EPUB and Kindle. Book excerpt: Providing anesthesiology for liver surgery and especially liver transplantation is highly complex and requires profound expertise in the physiology and pathophysiology of liver disease. This new edition incorporates the latest information in the field and remains the only available book on the topic. It focuses on the practical aspect of liver anesthesiology and critical care, while providing a comprehensive and in depth summary of the knowledge in this field. Most liver transplant centers now have dedicated teams providing anesthesia care during liver transplantations. In the last years there has been a substantial increase in knowledge and improvement in techniques in anesthesiology and critical care of patients undergoing liver surgery and transplant patients. Liver Anesthesiology and Critical Care Medicine, 2nd Edition includes new chapters on chronic liver failure and hepatic cirrhosis, preoperative risk assessment, evidence in liver anesthesiology, the splanchnic and systemic circulation in liver disease and a special focus on analgesia for liver resection including regional techniques. Written for anesthesiologists and critical care physicians caring for patients undergoing liver surgery and transplantation, this book proves to be an essential companion and review book as the number of liver surgeries with higher complexity continue to increase.

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 Albinism in Africa written by Jennifer Kromberg and published by Academic Press. This book was released on 2018-01-02 with total page 362 pages. Available in PDF, EPUB and Kindle. Book excerpt: Albinism in Africa: Historical, Geographic, Medical, Genetic, and Psychosocial Aspects provides the first in-depth reference for understanding and treating patients of human albinism in Africa. Leading international contributors examine the historical, geographic, psychosocial, genetic and molecular considerations of importance in effectively and sensitively managing this genetic disorder. Foundational chapters covering the historical and psychosocial aspects of albinism are supplemented by discussions of the pathobiology of the disease, as well as a thorough analysis of the genetics of skin pigmentation, eye pigmentation, hair pigmentation, and incidents of skin cancer involved in the manifestations of this disorder. New prenatal diagnostics and genetic testing methods, genetic risk assessment for individuals, families, and communities, and novel genetic markers that may be used for developing new therapeutics for treating albinism are also discussed in detail. The book provides care management approaches that may be applied to instances of albinism in other regions, along with guiding principles for treating rare genetic disorders and stigmatized patient populations across the globe. - Includes contributions from leading international contributors who examine the historical, geographic, psychosocial, genetic and molecular aspects of importance in sensitively managing albinism in Africa - Discusses recent advances in our understanding of the pathobiology of albinism, while also offering a thorough analysis of the genetics of skin pigmentation, eye pigmentation, hair pigmentation, and rates of skin cancer - Highlights new prenatal diagnostics and genetic testing methods and approaches to genetic risk assessment for individuals, families and communities

Download or read book Atlas of Metabolic Diseases Second edition written by William Nyhan and published by CRC Press. This book was released on 2005-08-26 with total page 801 pages. Available in PDF, EPUB and Kindle. Book excerpt: In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The second edition of this highly regarded book, auth

Download or read book Mechanisms of Genome Protection and Repair written by Dmitry O. Zharkov and published by Springer Nature. This book was released on 2020-05-07 with total page 230 pages. Available in PDF, EPUB and Kindle. Book excerpt: DNA is under constant challenge from environmental and endogenous metabolic assaults. Several layers of defence and repair systems allow cells to maintain stable genomes; in humans, dysfunction of these systems leads to cancer, neurodegeneration, and other pathologies. At the same time, recently it had emerged that targeted and regulated DNA damage and repair is a mechanism underlying several important cellular processes such as epigenetic demethylation and immunoglobulin gene diversification. The present collection of papers is aimed to cover new developments in the area of protective and regulatory mechanisms associated with DNA damage. The mechanisms ruling the recognition of damaged nucleotides against the vast background of normal ones are reviewed. The role of extended non-catalytic domains that are often found in eukaryotic DNA repair proteins in contrast to their downsized, catalytic-only bacterial counterparts is discussed. Among the proposed subjects are the regulatory functions of bulky covalent modifications such as poly(ADP)ribosylation and ubiquitylation in DNA damage response, especially in the context of chromatin remodelling. As opposed to DNA repair, damage tolerance allows cells to replicate with lesions in the genome; the enzymes responsible are also covered. Finally, we present examples of modern multilevel understanding of the cell function and malfunction in the wake of genotoxic assaults such as oxidative stress, abiotic environmental stress, and DNA-damaging plant toxins.

Download or read book Dorland s Dictionary of Medical Acronyms and Abbreviations written by Dorland and published by Elsevier Health Sciences. This book was released on 2015-07-24 with total page 481 pages. Available in PDF, EPUB and Kindle. Book excerpt: Medical acronyms and abbreviations offer convenience, but those countless shortcuts can often be confusing. Now a part of the popular Dorland's suite of products, this reference features thousands of terms from across various medical specialties. Its alphabetical arrangement makes for quick reference, and expanded coverage of symbols ensures they are easier to find. Effective communication plays an important role in all medical settings, so turn to this trusted volume for nearly any medical abbreviation you might encounter. - Symbols section makes it easier to locate unusual or seldom-used symbols. - Convenient alphabetical format allows you to find the entry you need more intuitively. - More than 90,000 entries and definitions. - Many new and updated entries including terminology in expanding specialties, such as Nursing; Physical, Occupational, and Speech Therapies; Transcription and Coding; Computer and Technical Fields. - New section on abbreviations to avoid, including Joint Commission abbreviations that are not to be used. - Incorporates updates suggested by the Institute for Safe Medication Practices (ISMP).

Download or read book Tumors and Tumor Like Lesions of the Hepatobiliary Tract written by Arthur Zimmermann and published by Springer. This book was released on 2016-11-02 with total page 3517 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book covers all liver tumors and lesions that clinically and radiologically mimic liver tumors. It provides readers with a comprehensive overview of this complex and rapidly evolving field. All aspects of surgical pathology are addressed, supplemented by detailed presentations of the lesions’ cell-biologic and molecular features. In addition, the methods employed for diagnosis and diagnostic algorithms are discussed. It appeals to pathologists and hepatologists and serves as an invaluable aid to diagnosis.The field of liver tumors and tumor-like lesions in adults and children has experienced tremendous advances in recent years. Specifically, the recognition of novel entities, deepened insights into known tumors, and refinement of classifications have necessitated continual updates and reappraisals. In addition, previous understanding of hepatic carcinogenesis and tumor progression has been transformed by the very rapid evolution of our understanding of cell biology, genomics, signaling pathways, cell interactions, and mechanisms of invasion and spread of hepatic tumor cells. These general pathology issues must be combined with surgical pathology if a comprehensive understanding of liver tumor pathology is to be achieved.

Download or read book Science in Society 61 written by Dr. Mae-Wan Ho and published by Institute of Science in Soc. This book was released on 2014-02-17 with total page 52 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this issue: From the Editors - Political Correct Science for the Masses No Nuclear Fukushima Crisis Goes Global Congenital Hypothyroidism & Fukushima Fallout in the US UK Government’s Great Nuclear Blunder SiS Commentary Caution Needed for the Precautionary Principle Safeguarding Science for Public Good Thousands Condemn Retraction & Pledge Elsevier Boycott Open Letter on Retraction and Pledge to Boycott Elsevier Chorus of Condemnation on Seralini Retraction Worldwide Retracting Séralini Study Violates Science & Ethics Ban GMOs GMO Labelling & Non-GMO Labelling a Win-Win Hawaii’s Big Island Leads the Way in Banning GMOs Don’t Grow Bt Brinjal Resource Depletion Alert Phosphorus Starvation Threatens the World ISIS News ISIS Director Wins Science Award Food & Agriculture New European Seed Legislation: Winners and Losers New Science of Water Large Structured Water Clusters Caught on Camera New Science of the Organism Natural Gene Therapy for Precision and Safety Philosophy and Science The Gospel According to Popper Holistic Health The Forgotten Organ – The Human Microbiota How Microbes Influence our Minds ISIS Interview Mae-Wan Ho Answers 10 (actually 11) Questions on GMOs, Science, & Life Technology Watch New Hazards in GMOs from Synonymous Mutations

Download or read book Inborn Metabolic Diseases written by Jean-Marie Saudubray and published by Springer Science & Business Media. This book was released on 2011-11-16 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: Being up to Date: Status Quo and Trends of Treatment For those involved in the identification and management of patients with inborn errors of metabolism, this book is now recognised as the standard textbook in this interdisciplinary field. It has proved to be indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology. This 5th edition has been extensively revised and updated. What ́s new - Additional chapter focusing on inborn errors affecting adults, particularly the late neurological presentations - Numerous updates on diagnostic procedures and treatment - Newly discovered disorders. As with previous editions, the book opens with a section presenting the clinical approach to inborn metabolic diseases for those cases in which a diagnosis is being sought. This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure. If a particular diagnosis is already suspected, the reader may refer to the following sections of the book containing general chapters on diagnostic procedures and treatment, and on specific groups of disorders. As with earlier editions, the chapters have been written by authors who are internationally recognised experts on their subjects. They provide information in a clear, relevant and concise manner using a coherent structure.

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.