Download or read book Syndromes Rapid Recognition and Perioperative Implications written by Bruno Bissonnette and published by McGraw-Hill Education / Medical. This book was released on 2006-08-10 with total page 988 pages. Available in PDF, EPUB and Kindle. Book excerpt: Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.

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 NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.

Download or read book Lipoprotein Deficiency Syndromes written by Aubie Angel and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: Current interest in lipoprotein deficiency states stems from the growing realization of their importance in the etiology of premature coronary heart disease. While hypercholesterolemia and coronary heart disease risk are strongly correlated in their etiologic relationship, it is becoming equally clear that deficiencies in HDL, whether congenital or acquired, also enhance the risk for the future development of coronary atherosclerosis. This has led to renewed attention to the lipid hypothesis and realization of the fact that each lipoprotein class and apoprotein species has specific functions in the transport and cellular uptake of various lipids. It is a truism that a biochemical correlate of disease once identified is subsequently recognized with increasing frequency in clinical medicine. The story of HDL was no exception. Indeed hypoalphalipoproteinemia appears to be a disease of high prevalence approaching and perhaps even exceeding that of familial hypercholesterolemia. Its clinical signifi cance escaped our notice for many years largely due to a heavy emphasis on hypercholesterolemia and to difficulties in measuring HDL reliably.

Download or read book Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease written by Roger N. Rosenberg and published by Elsevier. This book was released on 2014-10-28 with total page 1465 pages. Available in PDF, EPUB and Kindle. 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

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 Diagnosis Treatment and Follow Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2014-07-08 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.

Download or read book Lipid Management written by Hussein Yassine and published by Springer. This book was released on 2015-03-03 with total page 268 pages. Available in PDF, EPUB and Kindle. Book excerpt: This timely, concise title provides an important update on clinical lipid management. Using information from recent clinical trials and in special populations, the book begins by offering an easy-to-read overview of LDL, HDL, and triglyceride metabolism and the genetics of lipid disorders. The link between inflammation and lipids, and how this relates to atherosclerosis development, is also addressed, as are the measures of subclinical atherosclerosis in patients with abnormal lipid levels. Lipid abnormalities in children, with a particular focus on vulnerable populations (with an emphasis on ethnicity and childhood obesity), are covered. The treatment goals and approaches for managing lipids in the clinic are thoroughly discussed, emphasizing the important role of statin use and addressing controversies of lipid management in special populations such as heart failure, end stage kidney disease and fatty liver disease. Of special note, an important update on how new HIV medications impact lipid levels is provided. In all, Lipid Management: From Basics to Clinic, is an invaluable, handy resource for understanding changes in lipids in different populations and for sharpening the clinical approach to managing complicated lipid cases.

Download or read book Clinical Lipidology written by Christie M. Ballantyne and published by Elsevier Health Sciences. This book was released on 2009-01-01 with total page 605 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Lipidology, a companion to Braunwald's Heart Disease, is designed to guide you through the ever-changing therapeutic management of patients with high cholesterol levels. From basic science to pathogenesis of atherothrombotic disease, to risk assessment and the latest therapy options, this medical reference book offers unparalleled coverage and expert guidance on lipidology in a straightforward, accessible, and user-friendly style. Get authoritative guidance from some of the foremost experts in the field. Easily access key content with help from treatment algorithms. Access options and evidence-based solutions for every type of patient scenario, as well as the latest clinical guidelines and clinically relevant evidence on risk assessment, special patient populations, and therapy, including recently approved and experimental therapies. Remain at the forefront of the cardiology field with up-to-date chapters on treatment guidelines; diet, exercise, and weight loss; pharmacologic therapies such as statins, omega-3 fatty acids, and combination therapy; evolving targets of therapy such as PCSK9 inhibition, CETP inhibition, and inflammation Prepare for special patient populations such as children and adolescents; women and the elderly; transplant recipients; HIV patients; and those with chronic renal disease, familial hypercholesterolemia, other severe hypercholesterolemias, diabetes, or other metabolic syndromes. Take advantage of a format that follows that of the well-known and internationally recognized Braunwald's Heart Disease. Expert Consult eBook version included with purchase.

Download or read book Contemporary Practice in Clinical Chemistry written by William Clarke and published by Academic Press. This book was released on 2020-06-11 with total page 1070 pages. Available in PDF, EPUB and Kindle. Book excerpt: Contemporary Practice in Clinical Chemistry, Fourth Edition, provides a clear and concise overview of important topics in the field. This new edition is useful for students, residents and fellows in clinical chemistry and pathology, presenting an introduction and overview of the field to assist readers as they in review and prepare for board certification examinations. For new medical technologists, the book provides context for understanding the clinical utility of tests that they perform or use in other areas in the clinical laboratory. For experienced laboratorians, this revision continues to provide an opportunity for exposure to more recent trends and developments in clinical chemistry. - Includes enhanced illustration and new and revised color figures - Provides improved self-assessment questions and end-of-chapter assessment questions

Download or read book August s Consultations in Feline Internal Medicine Volume 7 written by Susan E. Little and published by Elsevier Health Sciences. This book was released on 2015-12-14 with total page 1085 pages. Available in PDF, EPUB and Kindle. Book excerpt: Stay current with cutting-edge information from the leading feline experts! August's Consultations in Feline Internal Medicine, Volume 7 takes the popular Current Therapy approach to the latest issues, advances, and therapies in feline care. The 103 new chapters are organized by body systems, making information easy to access, and include more than 800 new detailed photographs, diagrams, and MRI and ultrasound images. Discussions of scientific findings always emphasize clinical relevance and practical application. This edition addresses new topics ranging from feline obesity and food allergies to respiratory mycoplasmal infections. From feline expert Susan Little, with chapters written by more than 130 international specialists, this practical resource will be an invaluable addition to every small animal clinician's library. The Current Therapy format focuses on the latest advances in feline care and includes broad, traditional, and controversial subjects of real clinical importance. Clinically relevant approach is supported with scientific research and promotes practical, progressive clinical management. More than 130 world-renowned contributors provide expert insight across the full spectrum of feline internal medicine. Extensive references make it easy to find additional information about specific topics most important to your practice. 103 ALL-NEW chapters reflect the latest findings, reports, and evidence-based coverage of pressing topics such as: Managing respiratory mycoplasmal infections Continuous glucose monitoring in cats with diabetes Feline food allergy Stem cell therapy for chronic kidney disease Feline idiopathic cystitis Electrochemotherapy Current concepts in preventing and managing obesity Recognition and treatment of hypertensive crises Feline social behavior and personality NEW Emergency and Critical Care Medicine section contains 13 chapters covering complicated and serious internal medical problems. NEW! More than 800 colorful new images clarify concepts and demonstrate clinical examples.

Download or read book Clinical Cardiogenetics written by H.F. Baars and published by Springer Science & Business Media. This book was released on 2010-12-25 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic. The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a practical manner. The authors will cover the principles of molecular genetics in general but also specific to cardiac diseases. They will discuss the etiology, pathogenesis, pathophysiology, clinical presentation, clinical diagnosis, molecular diagnosis and treatment of each cardiogenetic disease separately. Therapy advice, ICD indications, indications for and manner of further family investigation will all be covered, while each chapter will also contain take-home messages to reinforce the key points. The chapters reviewing the different diseases will each contain a table describing the genes involved in each. Each chapter will also contain specific illustrations, cumulatively giving a complete, practical review of each cardiogenetic disease separately. Special emphasis will be given to advice on how to diagnose and manage cardiogenetic diseases in clinical practice, which genes should be investigated and why, and the pros and cons of genetic testing. Guidelines for investigation in families with sudden cardiac death at young age will also be included. This book will be written for the general cardiologist and the clinical geneticist who is involved in cardiac patients and will provide answers to question such as: Which genes are involved and which mutations? What is the effect of the mutation at cellular level? Which genes should be tested and why? What is the value of a molecular diagnosis? Does it influence therapy? When should the first degree relatives be tested and in which way?

Download or read book High Density Lipoproteins written by Arnold von Eckardstein and published by Springer. This book was released on 2015-01-13 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this Handbook of Experimental Pharmacology on “High Density Lipoproteins – from biological understanding to clinical exploitation” contributing authors (members of COST Action BM0904/HDLnet) summarize in more than 20 chapters our current knowledge on the structure, function, metabolism and regulation of HDL in health and several diseases as well as the status of past and ongoing attempts of therapeutic exploitation. The book is of interest to researchers in academia and industry focusing on lipoprotein metabolism, cardiovascular diseases and immunology as well as clinical pharmacologists, cardiologists, diabetologists, nephrologists and other clinicians interested in metabolic or inflammatory diseases.

Download or read book Coronary Primary Prevention Trial written by and published by . This book was released on 1984 with total page 2 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Management of Dyslipidemia written by Wilbert S. Aronow and published by BoD – Books on Demand. This book was released on 2021-07-21 with total page 176 pages. Available in PDF, EPUB and Kindle. Book excerpt: Dyslipidemia is a major risk factor for cardiovascular events, cardiovascular mortality, and all-cause mortality. The earlier in life dyslipidemia is treated, the better the prognosis. The current book is an excellent one on dyslipidemia written by experts on this topic. This book includes 12 chapters including 5 on lipids, 4 on hypercholesterolemia in children, and 3 on the treatment of dyslipidemia. This book should be read by all health care professionals taking care of patients, including pediatricians since atherosclerotic cardiovascular disease begins in childhood.

Download or read book Highlights of the Report of the Expert Panel on Blood Cholesterol Levels in Children and Adolescents written by National Cholesterol Education Program (U.S.). Expert Panel on Blood Cholesterol Levels in Children and Adolescents and published by . This book was released on 1991 with total page 14 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Braun Falco s Dermatology written by Walter H.C. Burgdorf and published by Springer. This book was released on 2009 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Also the 3rd edition of "Dermatology" covers all the classical and related fields of dermatology, providing a wealth of information on diagnostic methods, clinical features, pathophysiology, and differential diagnosis. About 950 excellent photos and diagrams help the reader become acquainted with the immense variety of dermatological diseases. The contents of all chapters have been updated. New chapters have been included covering numerous subjects, e.g. dermatopathology, sonography, disorders of chromosomal instability and defective DNA repair, aging skin, sport dermatology, aesthetic therapy. The book is a must for every doctor confronted with dermatological problems.