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Mitochondrial Disease Genes Compendium

Mitochondrial Disease Genes Compendium Book
Author : Marni J. Falk
Publisher : Academic Press
Release : 2020-04-28
ISBN : 0128200308
Language : En, Es, Fr & De

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Book Description :

The field of Mitochondrial Medicine has been dominated by symptom constellation-based diagnostic categorization since the first clinical syndrome was described three decades ago. Now, as rapidly expanding knowledge has revealed that mitochondrial diseases may result from several hundred distinct gene disorders with extensive clinical and mutation heterogeneity, the most useful guide for clinical care and research embraces a gene-centric approach to each individual’s disorder. Together with international colleagues, Dr. Marni Falk has developed the Mitochondrial Disease Sequence Data Resource (MSeqDR), an online, community curated, centralized data resource of mitochondrial disease data from a genomic perspective. MSeqDR provides tens of thousands of users with interactive access to mitochondrial disease feature descriptions in a defined human phenotype ontology, mitochondrial proteome-based gene and variant curation, and a suite of easily accessible tools to facilitate analysis of complex genomic datasets in nuclear and mitochondrial genomes as well as accurate interpretation of mitochondrial disease genes, variants, and diseases. Here, in the Mitochondrial Disease Genes Compendium, Dr. Marni Falk and a team of international experts have built off their work on MSeqDR to provide an all-in-one, readily accessible, and easy-to-use at point of care reference on mitochondrial disease from a gene-based perspective. In this book, clinicians and researchers will find a complete overview of mitochondrial disease genes relevant across all specialties, cataloging and building context around clinical features and the genetic basis of each condition. Within, each "gene page" offers an in-depth, referenced view of the relevant clinical disease spectrum, including gene and protein descriptions, year discovered, inheritance pattern(s), age ranges affected, major clinical features and severity range, clinical pearls, known therapies, available support groups, animal models, and gene-specific basic, translational, or clinical research activities now underway. Links provided on each gene page direct readers to MSeqDR for new findings, up-to-date genomic variant data, and user friendly informatics tools accessible to general clinicians and sophisticated geneticists or bioinformaticians alike, ensuring access to updated information on each condition. Covering 256 mitochondrial disease genes that have been expert-curated to assure they cause human diseases and have known mitochondrial localization or impact mitochondrial function, the Mitochondrial Disease Genes Compendium is directed at clinicians and researchers, facilitating bedside access to high-level, curated knowledge on mitochondrial disease genetics that rapidly enables patient diagnosis, counseling, management, treatment, and research. Provides a readily intelligible, all-in-one reference of known mitochondrial disease genes and their associated conditions Features live links to Mitochondrial Disease Sequence Data Resource (MSeqDR) pages with regularly updated genetic variant data and bioinformatics tools Covers the inheritance patterns, age spectrum affected, major clinical features, therapeutics, support groups, and research currently under way for over 250 mitochondrial diseases

Mitochondrial Disease Genes Compendium

Mitochondrial Disease Genes Compendium Book
Author : Marni J. Falk
Publisher : Academic Press
Release : 2020-05
ISBN : 0128200294
Language : En, Es, Fr & De

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Book Description :

The field of Mitochondrial Medicine has been dominated by symptom constellation-based diagnostic categorization since the first clinical syndrome was described three decades ago. Now, as rapidly expanding knowledge has revealed that mitochondrial diseases may result from several hundred distinct gene disorders with extensive clinical and mutation heterogeneity, the most useful guide for clinical care and research embraces a gene-centric approach to each individual's disorder. Together with international colleagues, Dr. Marni Falk has developed the Mitochondrial Disease Sequence Data Resource (MSeqDR), an online, community curated, centralized data resource of mitochondrial disease data from a genomic perspective. MSeqDR provides tens of thousands of users with interactive access to mitochondrial disease feature descriptions in a defined human phenotype ontology, mitochondrial proteome-based gene and variant curation, and a suite of easily accessible tools to facilitate analysis of complex genomic datasets in nuclear and mitochondrial genomes as well as accurate interpretation of mitochondrial disease genes, variants, and diseases. Here, in the Mitochondrial Disease Genes Compendium, Dr. Marni Falk and a team of international experts have built off their work on MSeqDR to provide an all-in-one, readily accessible, and easy-to-use at point of care reference on mitochondrial disease from a gene-based perspective. In this book, clinicians and researchers will find a complete overview of mitochondrial disease genes relevant across all specialties, cataloging and building context around clinical features and the genetic basis of each condition. Within, each "gene page" offers an in-depth, referenced view of the relevant clinical disease spectrum, including gene and protein descriptions, year discovered, inheritance pattern(s), age ranges affected, major clinical features and severity range, clinical pearls, known therapies, available support groups, animal models, and gene-specific basic, translational, or clinical research activities now underway. Links provided on each gene page direct readers to MSeqDR for new findings, up-to-date genomic variant data, and user friendly informatics tools accessible to general clinicians and sophisticated geneticists or bioinformaticians alike, ensuring access to updated information on each condition. Covering 256 mitochondrial disease genes that have been expert-curated to assure they cause human diseases and have known mitochondrial localization or impact mitochondrial function, the Mitochondrial Disease Genes Compendium is directed at clinicians and researchers, facilitating bedside access to high-level, curated knowledge on mitochondrial disease genetics that rapidly enables patient diagnosis, counseling, management, treatment, and research.

A Compendium of Inherited Disorders and the Eye

A Compendium of Inherited Disorders and the Eye Book
Author : Elias I. Traboulsi M.D.
Publisher : Oxford University Press
Release : 2005-12-01
ISBN : 0190291060
Language : En, Es, Fr & De

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Book Description :

During the past two decades, our understanding of the molecular genetics of inherited eye diseases, their classification, and management has undergone a huge expansion as the field of human genetics has benefited from technological advances and increased interest by physicians and scientists in all fields. As a result, the amount of clinical and basic-science information on inherited systemic and eye diseases has become so large that general ophthalmologists, ophthalmic subspecialists, and physicians in other fields have found it difficult to keep up. This volume will act as a guide because it catalogues all the latest information about genetic diseases that involve the eye and presents it in a practical and accessible format. After an introductory chapter that reviews basic clinical and molecular-genetic principles, individual diseases and groups of diseases are listed alphabetically in order to make it as easy as possible to search for an entry. The material in each entry is a synthesis of numerous articles and reviews on the topic, accompanied by at least one high-quality illustration, at least one webpage of a patient support group or other organization related to the disease, and references that provide the original description of the disease, an excellent review, or useful illustrations. There is also a companion website containing electronic copies of all the illustrations to make it easy to use them in lectures. Health-care professionals who need immediate access to clinical and basic-science information on inherited systemic and eye diseases will find this volume indispensable.

Knowledge and Systems Engineering

Knowledge and Systems Engineering Book
Author : Viet-Ha Nguyen,Anh-Cuong Le,Van-Nam Huynh
Publisher : Springer
Release : 2014-09-29
ISBN : 3319116800
Language : En, Es, Fr & De

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Book Description :

This volume contains papers presented at the Sixth International Conference on Knowledge and Systems Engineering (KSE 2014), which was held in Hanoi, Vietnam, during 9–11 October, 2014. The conference was organized by the University of Engineering and Technology, Vietnam National University, Hanoi. Besides the main track of contributed papers, this proceedings feature the results of four special sessions focusing on specific topics of interest and three invited keynote speeches. The book gathers a total of 51 carefully reviewed papers describing recent advances and development on various topics including knowledge discovery and data mining, natural language processing, expert systems, intelligent decision making, computational biology, computational modeling, optimization algorithms, and industrial applications.

Bioinformatics and Functional Genomics

Bioinformatics and Functional Genomics Book
Author : Jonathan Pevsner
Publisher : John Wiley & Sons
Release : 2005-03-04
ISBN : 0471459178
Language : En, Es, Fr & De

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Book Description :

Wiley is proud to announce the publication of the first ever broad-based textbook introduction to Bioinformatics and Functional Genomics by a trained biologist, experienced researcher, and award-winning instructor. In this new text, author Jonathan Pevsner, winner of the 2001 Johns Hopkins University "Teacher of the Year" award, explains problem-solving using bioinformatic approaches using real examples such as breast cancer, HIV-1, and retinal-binding protein throughout. His book includes 375 figures and over 170 tables. Each chapter includes: Problems, discussion of Pitfalls, Boxes explaining key techniques and math/stats principles, Summary, Recommended Reading list, and URLs for freely available software. The text is suitable for professionals and students at every level, including those with little to no background in computer science.

Genetic Diseases of the Eye

Genetic Diseases of the Eye Book
Author : Elias I. Traboulsi, MD
Publisher : Oxford University Press
Release : 2011-06-01
ISBN : 0199716978
Language : En, Es, Fr & De

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Book Description :

This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic resource on genetic diseases of the eye. This richly illustrated title covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. The new edition remains grounded in a sound clinical approach to the patient with a genetic disease that affects the eye. Oxford Genetics is a comprehensive, cross-searchable collection of resources offering quick and easy access to Oxford University Press's prestigious genetics texts. Joining Oxford Medicine Online these resources offer students, specialists and clinical researchers the best quality content in an easy-to-access format. Online only benefits include downloading images and figures to PowerPoint and downloading chapters to PDF.

Compendium of Problems in Genetics

Compendium of Problems in Genetics Book
Author : John Kuspira,Ramesh Bhambhani
Publisher : WCB/McGraw-Hill
Release : 1994
ISBN :
Language : En, Es, Fr & De

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Book Description :

Corresponds to Problems in Genetics as well as being keyed to 9 other genetics texts.

Medical Genetics E Book

Medical Genetics E Book Book
Author : Lynn B. Jorde,John C. Carey,Michael J. Bamshad
Publisher : Elsevier Health Sciences
Release : 2009-10-06
ISBN : 0323075762
Language : En, Es, Fr & De

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Book Description :

Medical Genetics is the clearest and most concise text on the subject, providing state-of-the-art coverage of clinically relevant molecular genetics. Lynn B. Jorde, PhD; John C. Carey, MD; and Michael J. Bamshad, MD integrate recent developments with clinical practice and emphasize the central principles of genetics and their clinical applications. Now in full color, this edition provides you with the stunning visual clarity so important in this field. Get the very latest on hot topics like gene identification, cancer genetics, gene testing and gene therapy, common diseases, ethical and social issues, personalized medicine, and much more. This is an indispensable resource that should be on every reading list. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. . Features mini-summaries, study questions, suggested reading, and a detailed glossary to supplement and reinforce what you learn from the text. Demonstrates clinical relevance through over 230 photographs, illustrations, and tables, along with boxes containing patient/family vignettes. Enhances the visual impact of the material with full-color illustrations throughout the text for easier and more effective learning and retention. Presents a new chapter on genomics and personalized medicine for the latest on these hot topics. Provides you with the latest knowledge and research on gene identification, cancer genetics, gene testing and gene therapy, common disorders, ethical and social issues, and much more so you can keep up with current developments in genetics. Includes study questions at the end of every chapter so you can test yourself and retain the material. Features additional clinically commentary boxes throughout the text to show the relevance of genetics to everyday patient problems to prepare you for problem-based integrated courses.

Nature Encyclopedia of the Human Genome Genome databases Mitochondrial genome Evolution

Nature Encyclopedia of the Human Genome  Genome databases   Mitochondrial genome  Evolution Book
Author : David Neil Cooper
Publisher :
Release : 2003
ISBN :
Language : En, Es, Fr & De

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Book Description :

The recent completion of important phases of the Human Genome Project heralds a new era in biomedical research, ensuring that human genetics will remain at the forefront of the public, scientific and educational consciousness. 'The Nature Encyclopedia of the Human Genome' (Nature EHG) will be the first major reference resource devoted entirely to the scientific basis and ethical, philosophical and commercial ramifications of genome research. Nature EHG will contain 1,000 articles, specially written by the world's leading experts and structured in such a way that different subsets will be useful to students, teachers, academics, researchers, and other professionals. The articles will be extensively cross-referenced and indexed and will contain many tables and illustrations. Areas to be covered include structural genomics, functional genomics, evolution and comparative genomics, genome mapping and sequencing, chromosome structure and function, population and mathematical genetics, bioinformatics, proteomics, genes and disease, behavioural and psychiatric genetics and ethical, legal and social issues.

Harrison s Principles of Internal Medicine 18th Edition

Harrison s Principles of Internal Medicine  18th Edition Book
Author : Dan Longo,Anthony Fauci,Dennis Kasper,Stephen Hauser,J. Jameson,Joseph Loscalzo
Publisher : McGraw Hill Professional
Release : 2011-07-21
ISBN : 007174889X
Language : En, Es, Fr & De

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Book Description :

The most trusted textbook in medicine -- featuring the acclaimed Harrison's DVD with 57 additional chapters and exclusive video and tutorials Now presented in TWO VOLUMES As reviwed by JAMA: "With the 18th edition, Harrison's Principles of Internal Medicine retains its standing as a definitive clinical reference and remains an outstanding foundation for any physician or physician-in-training. In many regards, Harrison’s remains synonymous not just with internal medicine but with medicine in general. The editors of the 18th edition have skillfully balanced tradition with the desire and need for innovation. The result is a book that remains as fundamental to current medical practice as the first edition was in 1949." --JAMA Extensively revised and expanded by the world’s leading physicians, Harrison’s Principles of Internal Medicine, 18e continues to set the standard as the pinnacle of current medical knowledge and practice, offering the definitive review of disease mechanisms and management. CURRENT All chapters have been completely updated to reflect the latest knowledge and evidence, and important new chapters have been added, including: "Systems Biology in Health and Disease," "The Human Microbiome," "The Biology of Aging," and "Neuropsychiatric Illnesses in War Veterans." CONNECTED Harrison's covers more global aspects of medicine than any other textbook, and features such chapters as "Global Issues in Medicine," by Jim Yong Kim, Paul Farmer, and Joseph Rhatigan, and new to the 18th edition, "Primary Care in Low and Middle Income Countries." COMPREHENSIVE No other resource delivers coverage of disease mechanisms and management like Harrison's, including world-renowned chapters on HIV/AIDS, STEMI and non-STEMI myocardial infarction, cancer biology, multiple sclerosis, and diabetes. The Harrison’s Multi-Media DVD— Better Than Ever! The Harrison’s DVD has been expanded to include an extensive video demonstration of the neurological physical examination, and video tutorials on how to perform essential clinical procedures, including: Thoracentesis Abdominal Paracentesis Endotracheal Intubation Central Venous Catheter Placement 57 additional chapters and more than 2,000 images make the companion DVD an essential part of every physician's education, practice, and lifelong learning.The DVD also features PowerPoint presentations from fifty chapters to facilitate classroom lectures, and a free trial subscription to AccessMedicine.com (including Harrison's Online). Harrison’s 18e is proud to present a tribute to longtime editor, Eugene Braunwald, MD for his outstanding and continuing contributions to medical knowledge and practice.

Harrison s Principles of Internal Medicine

Harrison s Principles of Internal Medicine Book
Author : Dennis L. Kasper,Eugene Braunwald,Stephen Hauser,Dan Longo,J. Larry Jameson,Anthony S. Fauci
Publisher : McGraw Hill Professional
Release : 2006-02-13
ISBN : 0071477608
Language : En, Es, Fr & De

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Book Description :

THE NEW COLOR OF MEDICINE HUNDREDS OF DIAGRAMS AND CLINICAL PHOTOS INTEGRATED INTO THE TEXT – FOR THE FIRST TIME IN FULL COLOR *This description refers to the single-volume of Harrison's Principles of Internal Medicine, 16/e. The Harrison's name is synonymous with internal medicine. HPIM continues to be the most authoritative and #1 selling medical textbook throughout the world. From its unique section on signs and symptoms through to the most comprehensive coverage of most all conditions seen by physician’s, Harrison's is the internal medicine reference of choice. Harrison's 16th Edition features new, expanded, revised and updated material on the key topics in medical practice today. From the latest research findings to up-to-the-minute advances in diagnostic and treatment methodologies, Harrison's puts the facts you need at your fingertips. The 16th Edition improves on a winning formula with: *State-of-the-art coverage of over 4,700 diseases and disorders—more than any other internal medicine text – in the areas of oncology and hematology; infectious diseases; cardiology; pulmonology; gastroenterology; clinical immunology; rheumatology; endocrinology; and neurology *A brand new full color format—665 full color drawings, 175 clinical and laboratory images, and hundreds of boxes, tables, and algorithms that use color to guide you to the information you need ASAP in everyday patient care *Thorough revision and updates of virtually all chapters *The addition of key new chapters – including extensive new coverage of Critical Care Medicine *145 algorithms for making accurate clinical decisions fast at the point of care *1,160 easy-access tables for immediate access to vital information and formulas *Cardinal manifestations of disease/signs and symptoms in 55 chapters (you’ll find yourself turning to this section over and over again). Here you will find all the major manifestations, such as fever, pain, aches and rash, presented in depth, with a referral that takes you to the disease section for the complete chapter. Stay a step ahead of everyday practice with the most authoritative, comprehensive, and useful guide to the entire spectrum of internal medicine.

Harrison s Principles of Internal Medicine 17th Edition

Harrison s Principles of Internal Medicine  17th Edition Book
Author : Anthony S. Fauci,Eugene Braunwald,Dennis L. Kasper,Stephen L. Hauser,Dan L. Longo,J. Larry Jameson,Joseph Loscalzo
Publisher : McGraw Hill Professional
Release : 2008-03-31
ISBN : 0071641149
Language : En, Es, Fr & De

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Book Description :

Introducing the most dramatically revised edition of Harrison's ever! Now with NEW bonus DVD with 37 chapters and more than 500 brand new images and video clips! MORE THAN TRUSTED, BEYOND ESSENTIAL . . . The #1 selling medical textbook worldwide, Harrison's has defined internal medicine for millions of clinicians and students. The new Seventeenth Edition retains Harrison's acclaimed balance of pathobiology, cardinal signs and manifestations of disease, and best approaches to patient management, yet has been massively updated to give you an innovative array of bold new features and content. If ever there was one must-have resource for clinicians and students - this is it! UNMATCHED EXPERTISE AT YOUR FINGERTIPS As an unprecedented amount of medical information bombards you and your patients, where do you go to sort it out and make sense of it all? When your patients request clarification on something they've “printed off” where do you turn for expert explanations? The same trusted resource physicians and students have turned to for over fifty years: Harrison's Principles of Internal Medicine. Now more than ever, trust Harrison's to filter and clarify the exploding knowledge base, to highlight the breakthroughs, and to deliver a clear, balanced distillation of the best and most current information on which to base clinical decisions. THE MOST EXCITING AND EXTENSIVELY REVISED EDITION EVER! Here are just a few of the reasons why the new 17th Edition of Harrison's is the best edition yet: Bonus companion DVD featuring: 37 new “e-chapters”; over 500 brand-new radiological, laboratory, and clinical images, including complete atlases; state-of-the-art video clips; an Image Bank of nearly all the illustrations contained in the parent text, and much more Expanded, modernized illustration program with more than 800 brand-new, additional illustrations-a 60% increase over the previous edition Dozens of brand new chapters on vital topics in medical education and clinical practice: Global Issues in Medicine: Patient Safety and Health Quality; Health Disparities: Atlas of EKGs; Clinical Management of Obesity: Atlas of Hematology: Atlases of Chest, Neurological, and Cardiovascular Radiology, and much more! Also included a complete new Section on biological foundations and emerging clinical applications of regenerative medicine! Brand new, reader-friendly text design optimizes the full-color format An expanded, innovative focus on global health NEW Global Advisory Board comprised of 11 prominent medical experts from Asia, India, Europe, and South America Revision of the popular On Line Learning Center, which offers more skill-sharpening self-assessment questions and answers, plus additional case studies for helping you apply Harrison's content to the daily care of patients Harrison's related products are available in a full suite of formats to meet all your educational and clinical needs. Harrison's Practice of Medicine is a complete database of more than 700 clinical topics formatted for use at the point of care. The Harrison's Manual of Medicine is one of the most popular and heavily used handbook-sized resources in internal medicine. The Harrison's Self-Assessment and Board Review features more than 1000 board-type cases and questions and highlights the use of Harrison's as a great board prep resouce.

Compendium of Cucurbit Diseases

Compendium of Cucurbit Diseases Book
Author : Thomas Andrew Zitter,Donald L. Hopkins,Claude E. Thomas
Publisher : Amer Phytopathological Society
Release : 1996
ISBN :
Language : En, Es, Fr & De

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Book Description :

Infectious diseases; Noinfections disorders; Disease of undetermined etiology; Postharvest handling; Field identification of selected cucurbit diseases with a hand lens.

Compendium of Corn Diseases

Compendium of Corn Diseases Book
Author : University of Illinois at Urbana-Champaign. Department of Crop Sciences
Publisher : Amer Phytopathological Society
Release : 1999
ISBN :
Language : En, Es, Fr & De

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Book Description :

As useful to growers and crop consultants as they are to researchers, these practical guidebooks offer convenient help in identifying, controlling, and preventing the diseases of major crop plants. Each volume features: -- Full-color photographs to help you quickly match symptoms with diseases -- Descriptions of symptoms, causes, cycles, and control practices -- Authoritative knowledge from leading plant scientists -- Discussion of major pathogens, including bacteria, fungi, nematodes, and insects More than 90 plant pathology experts have collaborated to update one of the most popular APS Press Compendia of all time. Compendium of Corn Diseases, Third Edition is completely rewritten and includes more than twice the information as the previous edition.

Compendium of Tobacco Diseases

Compendium of Tobacco Diseases Book
Author : H. D. Shew,George Blanchard Lucas
Publisher : Amer Phytopathological Society
Release : 1991
ISBN :
Language : En, Es, Fr & De

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Book Description :

As useful to growers and crop consultants as they are to researchers, these practical guidebooks offer convenient help in identifying, controlling, and preventing the diseases of major crop plants. Each volume features: -- Full-color photographs to help you quickly match symptoms with diseases -- Descriptions of symptoms, causes, cycles, and control practices -- Authoritative knowledge from leading plant scientists -- Discussion of major pathogens, including bacteria, fungi, nematodes, and insectsIncludes a separate section on disease management which covers integrated pest management and genetic modification.

Compendium of Alfalfa Diseases

Compendium of Alfalfa Diseases Book
Author : Donald L. Stuteville,Donald C. Erwin,American Phytopathological Society
Publisher : Amer Phytopathological Society
Release : 1990
ISBN :
Language : En, Es, Fr & De

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Book Description :

International in scope, the set provides a thorough, authoritative, and practical reference for plant pathologists and other agricultural researchers working with alfalfa diseases in the field, in diagnostic laboratories, or in plant clinics. Especially designed for the extension plant pathologist who has access to a microscope and for agricultural workers whose technical training in field pathology of alfalfa may be limited.

Proceedings

Proceedings Book
Author : Indian National Science Academy
Publisher :
Release : 1999
ISBN :
Language : En, Es, Fr & De

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Book Description :