What is “Tangier Disease”?: Causes, History, Pathophysiology, Signs & Symptoms, Diagnosis, Treatment etc.

What is “Tangier Disease”?: Causes, History, Pathophysiology, Signs & Symptoms, Diagnosis, Treatment etc.

Author: Dr. Hakim Saboowala

Publisher: Dr.Hakim Saboowala

Published: 2020-09-24

Total Pages: 26

ISBN-13:

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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)


Neurologic Differential Diagnosis

Neurologic Differential Diagnosis

Author: Alan B. Ettinger

Publisher: Cambridge University Press

Published: 2014-04-17

Total Pages: 693

ISBN-13: 1107014557

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Unique case-based guide to generating diagnostic possibilities based on the patients' symptoms. Invaluable for psychiatrists and neurologists.


NORD Guide to Rare Disorders

NORD Guide to Rare Disorders

Author: National Organization for Rare Disorders

Publisher: Lippincott Williams & Wilkins

Published: 2003

Total Pages: 982

ISBN-13: 9780781730631

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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.


Harrisons Manual of Medicine, 20th Edition

Harrisons Manual of Medicine, 20th Edition

Author: Dennis L. Kasper

Publisher: McGraw Hill Professional

Published: 2019-10-22

Total Pages: 1277

ISBN-13: 1260455351

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All the authority of the most trusted brand in medical content in a convenient, portable guide A Doody's Core Titles for 2023! The Harrison’s Manual, derived from most clinically salient content featured in Harrison's Principles of Internal Medicine, 20th Edition, delivers numerous clinical algorithms in one practical, portable resource. The Manual also includes abundant quick reference tables, plus concise text—providing rapid access to bedside information when decisions need to be made quickly. This full color summary guide covers all diseases and conditions commonly seen in inpatient general medicine, so you can be sure to find invaluable content directly to your workflow and practice. The 20th edition has been updated to reflect the latest clinical developments in medicine. The Manual truly makes it easy to find what you need at the point of care. The easy-to-navigate chapters cover symptoms/signs, medical emergencies, specific diseases, and care of the hospitalized patient, with a particular focus on: Etiology and Epidemiology Clinically Relevant Pathophysiology Signs and Symptoms Differential Diagnosis Physical and Laboratory Findings Therapeutics Practice Guidelines, and more


Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

Author: Nenad Blau

Publisher: Springer

Published: 2014-07-08

Total Pages: 880

ISBN-13: 3642403379

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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.


Inherited Metabolic Disease in Adults

Inherited Metabolic Disease in Adults

Author: Carla E. M. Hollak

Publisher: Oxford University Press

Published: 2016

Total Pages: 657

ISBN-13: 0199972133

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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.


Imaging Acute Neurologic Disease

Imaging Acute Neurologic Disease

Author: Massimo Filippi

Publisher: Cambridge University Press

Published: 2014-09-11

Total Pages: 393

ISBN-13: 1107035945

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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.


Encyclopedia of the Neurological Sciences

Encyclopedia of the Neurological Sciences

Author:

Publisher: Academic Press

Published: 2014-04-29

Total Pages: 4744

ISBN-13: 0123851580

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The Encyclopedia of the Neurological Sciences, Second Edition, Four Volume Set develops from the first edition, covering all areas of neurological sciences through over 1000 entries focused on a wide variety of topics in neurology, neurosurgery, psychiatry and other related areas of neuroscience. The contributing authors represent all aspects of neurology from many viewpoints and disciplines to provide a complete overview of the field. Entries are designed to be understandable without detailed background knowledge in the subject matter, and cross-referencing and suggested further reading lead the reader from a basic knowledge of the subject to more advanced understanding. The easy-to-use 'encyclopedic-dictionary' format of the Encyclopedia of the Neurological Sciences, Second Edition features alphabetic entries, extensive cross-referencing, and a thorough index for quick reference. The wealth of information provided by these four volumes makes this reference work a trusted source of valuable information for a wide range of researchers, from undergraduate students to academic researchers. Provides comprehensive coverage of the field of neurological science in over 1,000 entries in 4 volumes "Encyclopedic-dictionary" format provides for concise, readable entries and easy searching Presents complete, up-to-date information on 32 separate areas of neurology Entries are supplemented with extensive cross-referencing, useful references to primary research articles, and an extensive index


Smith's Recognizable Patterns of Human Malformation

Smith's Recognizable Patterns of Human Malformation

Author: Kenneth Lyons Jones

Publisher:

Published: 1997

Total Pages: 888

ISBN-13:

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This user-friendly 5th Edition provides concise but complete information on numerous common and rare disorders that cause human malformation. Includes an outline of the salient features of each condition, as well as material on natural history, etiology, and pathogenesis. The text is accompanied by helpful illustrations and reference lists. Organized to allow for easy access to essential information.


Tietz Clinical Guide to Laboratory Tests - E-Book

Tietz Clinical Guide to Laboratory Tests - E-Book

Author: Alan H. B. Wu

Publisher: Elsevier Health Sciences

Published: 2006-06-08

Total Pages: 1857

ISBN-13: 1437719872

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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.