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What Is Tangier Disease Causes History Pathophysiology Signs Symptoms Diagnosis Treatment Etc
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Book Synopsis What is “Tangier Disease”?: Causes, History, Pathophysiology, Signs & Symptoms, Diagnosis, Treatment etc. by : Dr. Hakim Saboowala
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)
Book Synopsis Lysosomal Storage Disorders by : Atul B. Mehta
Download or read book Lysosomal Storage Disorders written by Atul B. Mehta and published by John Wiley & Sons. This book was released on 2012-09-06 with total page 1 pages. Available in PDF, EPUB and Kindle. Book excerpt: The last two decades have seen a huge expansion in research in the area of lysosomal storage disorders, which has substantially extended our understanding of both the scientific and the clinical basis of these diseases. Lysosomal Storage Disorders: A Practical Guide is the fruit of an ambitious project aiming to review both the scientific and the clinical aspects of lysosomal storage disorders, resulting in this accessible volume, which gives an up-to-date overview of the subject. There is substantial scientific interest in these diseases: new advances in small molecule therapy are likely to be useful in the near future, and trials are already underway. Lysosomal storage disorders offer a unique platform for teaching modern clinical science, from basic genetics through to clinical applications. The first part of the book reviews and classifies our current understanding of the physiology and pathophysiology of lysosomal storage disorders. The second part of the book reviews individual diseases, and gives perspectives from patients and experts looking towards future therapeutic directions. Lysosomal Storage Disorders: A Practical Guide is the ideal guide for a wide audience including scientists, clinicians, health care workers and administrators, those working in the pharmaceutical industry, patients and their organisations. Titles of related interest Haematology at a Glance • Mehta • ISBN 9781405179706 Atlas of Endocrine and Metabolic Disease • Pozzilli • ISBN 9780470656273
Book Synopsis Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by : Nenad Blau
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 867 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.
Book Synopsis Oral Medicine by : Lester William Burket
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:
Book Synopsis Uncommon Causes of Stroke by : Julien Bogousslavsky
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.
Book Synopsis Inherited Metabolic Disease in Adults by : Carla E. M. Hollak
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.
Book Synopsis Imaging Acute Neurologic Disease by : Massimo Filippi
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: "Acute neurologic diseases encompass a wide spectrum of medical illnesses with neurological manifestations which require rapid clinical, paraclinical and laboratory evaluation as patients are evaluated in the emergency department or acute care clinics. In the last decade, imaging has assumed far greater importance in the initial assessment of these patients, and is responsible for much of the cost and resources in the early, critical evaluation. However the optimal approach to utilization of imaging for thorough, yet efficient and cost-responsible care remains poorly defined for many acute neurologic presentations"--Provided by publisher.
Book Synopsis Neurologic Differential Diagnosis by : Alan B. Ettinger
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: "There is an apocryphal story of an eminent neurology professor who was asked to provide a differential diagnosis. He allegedly quipped: "I can't give you a differential diagnosis. If you wish I will give you a list of wrong diagnoses followed by the right diagnosis." Sadly, this sort of arrogance pervaded our field, particularly in the era before there were accurate diagnostic methods and effective treatments of neurological diseases. Fortunately, this sort of pomposity is now relegated to the past and remains only as an antique reminder of a type of hubris that precluded discovery and progress in diseases of the nervous system"--
Book Synopsis Application of the International Classification of Diseases to Neurology by : World Health Organization
Download or read book Application of the International Classification of Diseases to Neurology written by World Health Organization and published by World Health Organization. This book was released on 1997-10-02 with total page 586 pages. Available in PDF, EPUB and Kindle. Book excerpt: Gives specialists in the clinical neurosciences a detailed and authoritative instrument for coding virtually all recognized neurological conditions. Both neurological diseases and neurological manifestations of general diseases and injuries are included in this comprehensive coding tool. The volume is part of a growing family of specialty-based adaptations of ICD-10 which retain the core codes of the parent classification while providing extended detail at the fifth character and beyond. Now in its second edition ICD-NA has been revised to reflect current clinical concepts in the neurosciences as well as the new coding system introduced with ICD-10. The classification was finalized following extensive consultation with numerous professional organizations and international experts thus ensuring the representation of as many viewpoints as are practical and consistent. While remaining directly compatible with ICD-10 ICD-NA offers clinicians and researchers much greater precision allowing them to match an explicit diagnosis with a detailed code at the five- six or seven-character level. In addition a comprehensive alphabetical index and the extensive use of inclusion and exclusion terms provide considerable assistance in finding the correct category for any condition diagnosed. Apart from these opportunities for recording greater diagnostic detail the direct compatibility with ICD-10 facilitates comparisons between statistics compiled according to ICD-NA and national morbidity and mortality statistics compiled according to ICD-10. These features enhance the flexibility of ICD-NA making it suitable for use in morbidity statistics hospital record indexing and epidemiological research by government and other health agencies collecting statistical data under relatively few main headings or by individual physicians and researchers requiring a convenient tool for indexing their clinical and teaching material in sufficient detail. The revised classification should also facilitate the collection of epidemiological data comparisons of the prevalence of individual neurological diseases and identification of the risk factors for these diseases at both national and international levels. In addition to the detailed tabular list of neurological and related disorders the volume includes an explanation of the basic principles of classification and instructions for coding morphology codes for neoplasms relevant to neurology and neurosurgery and a 90-page index of diagnostic terms given in standard or official nomenclatures together with synonyms and eponyms.
Author :Satdarshan P. S. Monga Publisher :Springer Science & Business Media ISBN 13 :1441971076 Total Pages :920 pages Book Rating :4.4/5 (419 download)
Book Synopsis Molecular Pathology of Liver Diseases by : Satdarshan P. S. Monga
Download or read book Molecular Pathology of Liver Diseases written by Satdarshan P. S. Monga and published by Springer Science & Business Media. This book was released on 2010-12-14 with total page 920 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cellular and Molecular Pathology of the Liver is extensive, complex and ranges from the understanding the basic molecular mechanisms that dictate everything from liver homeostasis to liver disease. Molecular Pathology of the liver is complicated due to some of the important functions inherent and unique to the Liver, including its innate ability to regenerate and the multitude of functions it plays for the wellbeing of an organism. With all this in mind, Molecular Pathology of Liver Diseases is organized in different sections, which will coherently and cohesively present the molecular basis of hepatic physiology and pathology. The first two sections are key to understanding the liver anatomy and physiology at a cellular level and go on to define the molecular mechanics in various liver cell types. These sections also cover the existing paradigms in liver development, regeneration and growth. The next section is key to understanding the Molecular Pathology unique to liver diseases and associated phenotypes. The final sections are geared towards the existing knowledge of the molecular basis of many common and uncommon liver diseases in both neoplastic and non-neoplastic areas including pathologies associated with intra-hepatic and extra-hepatic biliary tree. Thus, this textbook is a one-stop reference for comprehending the molecular mechanisms of hepatic pathobiology. It is clearly unique in its format, readability and information and thus will be an asset to many in the field of Pathology and other disciplines.
Author :National Organization for Rare Disorders Publisher :Lippincott Williams & Wilkins ISBN 13 :9780781730631 Total Pages :982 pages Book Rating :4.7/5 (36 download)
Book Synopsis NORD Guide to Rare Disorders by : National Organization for Rare Disorders
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.
Book Synopsis Annual of the Universal Medical Sciences by :
Download or read book Annual of the Universal Medical Sciences written by and published by . This book was released on 1888 with total page 606 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Annual of the Universal Medical Sciences and Analytical Index by :
Download or read book Annual of the Universal Medical Sciences and Analytical Index written by and published by . This book was released on 1888 with total page 618 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Inherited Metabolic Diseases by : Georg F. Hoffmann
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 386 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.
Book Synopsis Histiocytic Disorders by : Oussama Abla
Download or read book Histiocytic Disorders written by Oussama Abla and published by Springer. This book was released on 2017-11-17 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume provides a comprehensive and world-class review of the field of histiocytic neoplasms and hemophagocytic lymphohistiocytosis (HLH). It reviews all the advances in the field of histiocytoses during the last ten years, particularly with regards to the genomic findings in LCH and other histiocytic neoplasms and the new suggested classification of the histiocytic disorders. Additionally, it features a state-of-the art update on the most recent treatment strategies for LCH, including the results of the last LCH-III international trial, salvage therapies such as reduced-intensity conditioning (RIC) stem cell transplant (SCT), and targeted therapies with BRAF and MEK inhibitors, as well as the challenging cases of CNS-neurodegenerative LCH and its therapeutic perspectives. For primary and secondary HLH the book updates the most recent genetic and pathophysiological findings, including macrophage-activation syndrome (MAS), and includes a special chapter on HLH in adults. Treatment chapters encompass therapy for newly diagnosed HLH and refractory disease as well as stem-cell transplantation and novel therapies. The text also highlights the most recent advances in the treatment of the uncommon histiocytic disorders, such as Erdheim-Chester disease (ECD), Juvenile xanthogranuloma (JXG) and JXG-like conditions, Rosai-Dorfman disease (RDD), and the very rare malignant histiocytoses. Written by international experts in the field, Histiocytic Disorders is a valuable resource for clinicians, researchers, fellows and residents who are interested in or manage histiocytic disorders in children and adults.
Book Synopsis The Patient History: Evidence-Based Approach by : Mark Henderson
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
Book Synopsis Diet and Health by : National Research Council
Download or read book Diet and Health written by National Research Council and published by National Academies Press. This book was released on 1989-01-01 with total page 765 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diet and Health examines the many complex issues concerning diet and its role in increasing or decreasing the risk of chronic disease. It proposes dietary recommendations for reducing the risk of the major diseases and causes of death today: atherosclerotic cardiovascular diseases (including heart attack and stroke), cancer, high blood pressure, obesity, osteoporosis, diabetes mellitus, liver disease, and dental caries.
