Download or read book What is Tangier Disease Causes History Pathophysiology Signs Symptoms Diagnosis Treatment etc written by Dr. Hakim Saboowala and published by Dr.Hakim Saboowala. This book was released on 2020-09-24 with total page 26 pages. Available in PDF, EPUB and Kindle. Book excerpt: What is “Tangier Disease”?: Causes, History, Pathophysiology, Signs & Symptoms, Diagnosis, Treatment etc. Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) - the 'good cholesterol' - in the blood. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease. Tangier disease is caused by mutations in the ABCA1 gene. · It is inherited in an autosomal recessive pattern. · Tangier disease (TD) is an inherited condition that affects the body's ability to regulate the transport cholesterols out of cells. People with TD have trouble transporting "bad" types of cholesterol out of their cells and do not have enough of the "good" types of cholesterol --- especially a type of cholesterol called HDL cholesterol. HDL cholesterol is called good cholesterol because it removes fat molecules from artery walls, which prevents a condition called hardening of the arteries/atherosclerosis (buildup of fatty deposits on the artery walls). People who have very low levels of HDL cholesterol are at increased risk for heart disease. Although it is a very rare disease, it may be underdiagnosed and therefore more common than it appears to be at this time. TD has been diagnosed in many ethnic groups around the world. Unfortunately, there are no exact figures for its prevalence. An attempt has been made in this Booklet to include the aforesaid topics of the Title comprehensively along with several relevant Historical illustrations along with others. …Dr. H. K. Saboowala. M.B.(Bom) .M.R.S.H.(London)

Download or read book Neurologic Differential Diagnosis written by Alan B. Ettinger and published by Cambridge University Press. This book was released on 2014-04-17 with total page 693 pages. Available in PDF, EPUB and Kindle. Book excerpt: Unique case-based guide to generating diagnostic possibilities based on the patients' symptoms. Invaluable for psychiatrists and neurologists.

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 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 Dyslipidemia A Clinical Approach written by Merle Myerson and published by Lippincott Williams & Wilkins. This book was released on 2018-02-08 with total page 445 pages. Available in PDF, EPUB and Kindle. Book excerpt: An ideal reference for practitioners and health care professionals who care for patients with abnormal lipids, Dyslipidemia: A Clinical Approach provides clinically relevant, user-friendly information on all aspects of this rapidly evolving field. In addition to concise yet in-depth coverage of key topics, chapters include background information, evidence from the literature, and author commentary on conflicting or debated recommendations. Written by respected leaders in cardiology, nutrition, pharmacology, endocrinology and diabetes, pediatrics, nursing, obstetrics and gynecology, and lipidology, this one-stop reference is an excellent resource for helping patients lower the burden of atherosclerotic lipid particles and reduce the risk for cardiovascular disease.

Download or read book Imaging Acute Neurologic Disease written by Massimo Filippi and published by Cambridge University Press. This book was released on 2014-09-11 with total page 393 pages. Available in PDF, EPUB and Kindle. Book excerpt: A comprehensive survey of best practice in using diagnostic imaging in acute neurologic conditions. The symptom-based approach guides the choice of the available imaging tools for efficient, accurate, and cost-effective diagnosis. Effective examination algorithms integrate neurological and imaging concepts with the practical demands and constraints of emergency care.

Download or read book Oral Medicine written by Lester William Burket and published by . This book was released on 1946 with total page 714 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.

Download or read book Uncommon Causes of Stroke written by Julien Bogousslavsky and published by Cambridge University Press. This book was released on 2001-05-24 with total page 418 pages. Available in PDF, EPUB and Kindle. Book excerpt: An essential resource for diagnosis and treatment of stroke patients outside the usual clinical categories.

Download or read book Neurotoxicity of Metals written by Michael Aschner and published by Springer. This book was released on 2017-09-18 with total page 383 pages. Available in PDF, EPUB and Kindle. Book excerpt: Assembles international authorities to address contemporary research in metal neurotoxicity. Essential and non-essential metals play an important role in neurodevelopmental and neurodegenerative diseases. Recent developments in understanding the role of metals in the etiology of these disorders have led to rapid growth in clarifying the pathology of some of the most devastating diseases we face and in identifying potential new therapies. Few books or periodicals have been wholly dedicated to the topic of metals, and this collection is intended to serve as a resource for all researchers interested in metals and their role in health and disease.

Download or read book Unnatural Exposure written by Patricia Cornwell and published by Penguin. This book was released on 2008-01-02 with total page 352 pages. Available in PDF, EPUB and Kindle. Book excerpt: Kay Scarpetta finds herself pitted against a possible bioterrorist in this suspense-filled read from #1 New York Times bestselling author Patricia Cornwell. When a woman turns up dismembered in a landfill, Scarpetta initially suspects the work of a serial killer she’s been tracking. But her investigation turns far more dangerous when she realizes the victim’s skin is covered in an unusual rash—and Scarpetta herself may have just been exposed to a deadly virus.

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 Genetic Steroid Disorders written by Maria I. New and published by Academic Press. This book was released on 2023-06-14 with total page 470 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on "Gonadotropins, Obesity and Bone" and new research on non-invasive prenatal diagnosis with cell-free DNA. Chapters are thoroughly updated covering steroid disorders, the genetic bases for the disorder and case presentations, This definitive reference belongs in every medical library! Presents a comprehensive, translational look at all aspects of genetic steroid disorders in one reference work Provides a common language for endocrinologists, geneticists, molecular pathologists, and genetic counselors to discuss and diagnose genetic steroid disorders Saves clinicians and researchers time in quickly accessing the very latest details on genetic tests and diagnoses as opposed to searching through thousands of journal articles Highlights significant discoveries with clinical relevance, presenting insight into which medications to use based on the genetic makeup of a patient Teaches the best strategies and most effective use of genetic information in the patient counseling setting

Download or read book Tietz Clinical Guide to Laboratory Tests E Book written by Alan H. B. Wu and published by Elsevier Health Sciences. This book was released on 2006-06-08 with total page 1856 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new edition of Norbert Tietz's classic handbook presents information on common tests as well as rare and highly specialized tests and procedures - including a summary of the utility and merit of each test. Biological variables that may affect test results are discussed, and a focus is placed on reference ranges, diagnostic information, clinical interpretation of laboratory data, interferences, and specimen types. New and updated content has been added in all areas, with over 100 new tests added. Tests are divided into 8 main sections and arranged alphabetically. Each test includes necessary information such as test name (or disorder) and method, specimens and special requirements, reference ranges, chemical interferences and in vivo effects, kinetic values, diagnostic information, factors influencing drug disposition, and clinical comments and remarks. The most current and relevant tests are included; outdated tests have been eliminated. Test index (with extensive cross references) and disease index provide the reader with an easy way to find necessary information Four new sections in key areas (Preanalytical, Flow Cytometry, Pharmacogenomics, and Allergy) make this edition current and useful. New editor Alan Wu, who specializes in Clinical Chemistry and Toxicology, brings a wealth of experience and expertise to this edition. The Molecular Diagnostics section has been greatly expanded due to the increased prevalence of new molecular techniques being used in laboratories. References are now found after each test, rather than at the end of each section, for easier access.

Download or read book The Patient History Evidence Based Approach written by Mark Henderson and published by McGraw Hill Professional. This book was released on 2012-06-13 with total page 754 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive evidence-based introduction to patient history-taking NOW IN FULL COLOR For medical students and other health professions students, an accurate differential diagnosis starts with The Patient History. The ideal companion to major textbooks on the physical examination, this trusted guide is widely acclaimed for its skill-building, and evidence based approach to the medical history. Now in full color, The Patient History defines best practices for the patient interview, explaining how to effectively elicit information from the patient in order to generate an accurate differential diagnosis. The second edition features all-new chapters, case scenarios, and a wealth of diagnostic algorithms. Introductory chapters articulate the fundamental principles of medical interviewing. The book employs a rigorous evidenced-based approach, reviewing and highlighting relevant citations from the literature throughout each chapter. Features NEW! Case scenarios introduce each chapter and place history-taking principles in clinical context NEW! Self-assessment multiple choice Q&A conclude each chapter—an ideal review for students seeking to assess their retention of chapter material NEW! Full-color presentation Essential chapter on red eye, pruritus, and hair loss Symptom-based chapters covering 59 common symptoms and clinical presentations Diagnostic approach section after each chapter featuring color algorithms and several multiple-choice questions Hundreds of practical, high-yield questions to guide the history, ranging from basic queries to those appropriate for more experienced clinicians

Download or read book Inherited Metabolic Diseases written by Georg F. Hoffmann and published by Springer Science & Business Media. This book was released on 2009-11-21 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.

Download or read book MGH Cardiology Board Review written by Hanna K. Gaggin and published by Springer Science & Business Media. This book was released on 2013-08-26 with total page 660 pages. Available in PDF, EPUB and Kindle. Book excerpt: MGH Cardiology Board Review is intended for physicians studying for the Cardiology Board Examination (Initial Certification or Re-certification) and for any busy practitioners who would like to review high-yield cardiology such as those in cardiology, emergency medicine, internal medicine, family practice, or even surgery. Designed for those on the go, each section is meant to be completed in 30 minutes; and at 30 minutes a day, the reader will have a complete overview of up-to-date information in 30 days. Each section has a concise didactic followed by a questions section with an identical format to the Cardiovascular Board Examination of the American Board of Internal Medicine.This book is from the Massachusetts General Hospital’s Cardiology Division, one of the most respected cardiology programs in the world and is its first Cardiology review book.