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Practical Genomics For Clinical Ophthalmology

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Practical Genomics for Clinical Ophthalmology

Practical Genomics for Clinical Ophthalmology Book
Author : Jane Ashworth,Graeme Black,Bart P. Leroy,Panagiotis I. Sergouniotis
Publisher : Elsevier
Release : 2022-01-31
ISBN : 0128139447
Language : En, Es, Fr & De

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Book Description :

Practical Genomics for Clinical Ophthalmology provides in-depth coverage of the clinical applications of genomics in eye disease, with a key emphasis on case-study based instruction in patient care and genetic counseling aspects, genetic and genomic diagnostics, and treatment pathways. The book presents the latest information on genetic and genomic test results, best practices for delivery of results to patients and families, and ongoing research into therapeutics, with specific chapters covering non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, developmental eye abnormalities, nystagmus, ocular motility disorders, optic neuropathies, phacomatoses, and retinoblastoma, and more. In addition, clinical case studies illustrate examples of common genetic eye disorders and highlight vital learning points for the reader. Presents the work of leading international researchers and clinicians who speak in-depth on the clinical applications of genomics in diagnosis and treatment of eye disease Provides full-color, richly illustrated chapters that cover current genetic and genomic testing methods employed in ophthalmology Includes instructions on the diagnosis and treatment of a wide range of conditions, including non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, and more Contains case studies that illustrate common genetic eye disorders and highlight vital learning points for the reader

Clinical Ophthalmic Genetics and Genomics

Clinical Ophthalmic Genetics and Genomics Book
Author : Graeme C.M. Black,Jane L. Ashworth,Panagiotis I. Sergouniotis
Publisher : Academic Press
Release : 2022-01-18
ISBN : 0128139455
Language : En, Es, Fr & De

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Book Description :

Clinical Ophthalmic Genetics and Genomics provides an accessible, clinically-focused reference for the evolving field of Genetic Ophthalmology. This well-organised, easy-to-read textbook integrates key concepts with clinical practice and is designed to enhance effective learning and retention of complex material. It includes contributions from recognised leaders in the field and provides expert guidance on the complete spectrum of genetic ophthalmic disorders. A structured introductory section offering a practical guide to the processes involved in diagnosing patients with genetic ophthalmic disorders Expert guidance on the complete spectrum of genetic ophthalmic disorders from leading international clinicians and researchers Well-organised with streamlined, templated chapters and a user-friendly layout that provides quick access to clinically relevant information, and is designed to help ophthalmologists, geneticists, and genetic counsellors in the clinic room

Genomic Medicine

Genomic Medicine Book
Author : Dhavendra Kumar,Charis Eng
Publisher : Oxford University Press
Release : 2014-09-26
ISBN : 0199398089
Language : En, Es, Fr & De

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Book Description :

The first edition of Genomics and Clinical Medicine provided an overview of genomics-based advances in disease susceptibility, diagnosis, and prediction of treatment outcomes in various areas of medicine. Since its publication, the science of genomics has made tremendous progress, and exciting new developments in biotechnology and bioinformatics have created possibilities that were inconceivable only a few years ago. This completely revised second edition of Genomic Medicine reflects the rapidly changing face of applied and translational genomics in the medical and health context and provides a comprehensive coverage of principles of genetics and genomics relevant to the practice of medicine.

Genetics in Ophthalmology

Genetics in Ophthalmology Book
Author : B. Wissinger,Susanne Kohl,U. Langenbeck
Publisher : Karger Medical and Scientific Publishers
Release : 2003-01-01
ISBN : 3805575785
Language : En, Es, Fr & De

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Book Description :

The objective of this publication is to enhance mutual understanding and communication between ophthalmologists, molecular geneticists, genetic counselors and biomedical researchers. In the introductory chapter, current genetic paradigms and experimental genetic approaches relevant to the nature of hereditary disorders are discussed. The following contribution on the epidemiology of hereditary ocular disorders provides an excellent reference to geneticists as well as clinicians. Myopia is presented as an example of a complex clinical phenotype where genes and environment interact. Further molecular ophthalmogenetic topics, such as corneal dystrophies, cataract, glaucoma, opticus neuropathy, non-syndromic and syndromic pigmentary retinopathies, defects of vitamin A metabolism and macular dystrophies including age-related macular degeneration, are investigated in depth. The volume concludes with a survey of color vision deficiencies, a discussion of animal models and gene therapy, and a useful description of technical devices supporting patients who are losing sight.

Cardiovascular Genetics and Genomics

Cardiovascular Genetics and Genomics Book
Author : Dhavendra Kumar,Perry Elliott
Publisher : Springer
Release : 2018-01-17
ISBN : 3319661140
Language : En, Es, Fr & De

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Book Description :

This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular genetics and genomics in clinical practice. This concise, clinically oriented text is targeted at a broad range of clinicians who manage patients and families with a wide range of heterogeneous inherited cardiovascular conditions. Cardiovascular Genetics and Genomics: Principles and Clinical Practice includes a concise and clear account on selected topics written by a team of leading experts on clinical cardiovascular genetics. Each chapter include key information to assist the clinician and case histories have been incorporated to reflect contemporary practice in clinical cardiovascular genetics and genomics. Therefore this will be of key importance to all professionals working in the discipline, from clinicians and trainees in cardiology, cardiac surgery, electrophysiology, immunology through geneticists, nursing staff and those involved in precision medicine.

Genomics and Clinical Medicine

Genomics and Clinical Medicine Book
Author : Dhavendra Kumar,David Weatherall
Publisher : Oxford University Press
Release : 2008-02-15
ISBN : 9780199720057
Language : En, Es, Fr & De

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Book Description :

An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication,and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.

Genomic Medicine

Genomic Medicine Book
Author : Dhavendra Kumar,Charis Eng
Publisher : Oxford Monographs on Medical G
Release : 2014-10-15
ISBN : 019989602X
Language : En, Es, Fr & De

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Book Description :

Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

The Eye

The Eye Book
Author : John V. Forrester,Andrew David Dick,Paul G. McMenamin,Eric Pearlman,Fiona Roberts (Pathologist)
Publisher : Elsevier Health Sciences
Release : 2015-04-01
ISBN : 0702055549
Language : En, Es, Fr & De

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Book Description :

Preceded by The eye / John V. Forrester ... [et al.]. 3rd ed. 2008.

Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics

Emery and Rimoin   s Principles and Practice of Medical Genetics and Genomics Book
Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publisher : Academic Press
Release : 2020-09-30
ISBN : 0128126833
Language : En, Es, Fr & De

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Book Description :

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world’s most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. Wholly revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods Provides genetic researchers, students, and health professionals with up-to-date coverage on the genetic basis of a range of metabolic disorders, including body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics A robust companion website offers lecture slides, image banks, and links to outside resources and articles to stay up-to-date on the latest developments in the field

Clinical Genomics Practical Applications for Adult Patient Care

Clinical Genomics  Practical Applications for Adult Patient Care Book
Author : Michael T. Murray,Mark Babyatski,Monica Giovanni
Publisher : McGraw Hill Professional
Release : 2013-10-22
ISBN : 0071810595
Language : En, Es, Fr & De

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Book Description :

Convert the latest genomic data to the most effective patient management and treatment approaches Clinical Genomics helps healthcare providers translate the vast amount of new genomic data into successful clinical application. It is a comprehensive textbook and practical guide to the use of this information across a broad spectrum of adult diseases – from individual differences in drug responses, cardiac and cancer risks to Alzheimer's and other neurological and psychiatric disorders. While traditional textbooks on medical genetics focus on classic Mendelian disorders, Clinical Genomics discusses the everyday application of genetic assessment and the diagnostic, therapeutic, and preventive implications to the most common adult diseases that healthcare providers encounter. Covering approximately 200 conditions, it is a true clinical text for use across all of internal medicine. Coverage of each condition is presented in a consistent, clinically relevant manner and includes: Key Points Diagnostic Criteria and Clinical Characteristics Screening and C ounseling Management and Treatment Molecular Genetics and Molecular Mechanism Supplementary Information More than ten valuable appendices, include Genetic Privacy; Race, Ancestry, and Genetics; Personalized Medicine in Clinical Practice; Clinical Interpretation of Genomic Data; and Genetic Risk Profiling in the Genomics Era. Clinical Genomics is essential for internists, primary care physicians, and other healthcare providers who wish to increase their knowledge of the gene-and-protein level care of patients in a clinical setting.

Principles and Practice of Ophthalmology E Book

Principles and Practice of Ophthalmology E Book Book
Author : Daniel M. Albert,Joan W. Miller,Dimitri T. Azar,Barbara A. Blodi
Publisher : Elsevier Health Sciences
Release : 2008-02-27
ISBN : 1437721117
Language : En, Es, Fr & De

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Book Description :

Inside the 3rd edition of this esteemed masterwork, hundreds of the most distinguished authorities from around the world provide today's best answers to every question that arises in your practice. They deliver in-depth guidance on new diagnostic approaches, operative technique, and treatment option, as well as cogent explanations of every new scientific concept and its clinical importance. With its new streamlined, more user-friendly, full-color format, this 3rd edition makes reference much faster, easier, and more versatile. More than ever, it's the source you need to efficiently and confidently overcome any clinical challenge you may face. Comprehensive, authoritative, and richly illustrated coverage of every scientific and clinical principle in ophthalmology ensures that you will always be able to find the guidance you need to diagnose and manage your patients' ocular problems and meet today's standards of care. Updates include completely new sections on "Refractive Surgery" and "Ethics and Professionalism"... an updated and expanded "Geneitcs" section... an updated "Retina" section featuring OCT imaging and new drug therapies for macular degeneration... and many other important new developments that affect your patient care. A streamlined format and a new, more user-friendly full-color design - with many at-a-glance summary tables, algorithms, boxes, diagrams, and thousands of phenomenal color illustrations - allows you to locate the assistance you need more rapidly than ever.

Omics in Clinical Practice

Omics in Clinical Practice Book
Author : Yu Liu
Publisher : CRC Press
Release : 2014-06-20
ISBN : 1771880600
Language : En, Es, Fr & De

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Book Description :

This book serves as an introduction to genomics, proteomics, and transcriptomics, putting these fields in relation to human disease and ailments. The various chapters consider the role of translation and personalized medicine, as well as pathogen detection, evolution, and infection, in relation to genomics, proteomics, and transcriptomics. The topic of companion diagnostics is also covered. The book is broken into five sections. Part I examines the connection between omics and human disease. Part II looks at the applications for the fields of translational and personalized medicine. Part III focuses on molecular and genetic markers. Part IV describes the use of omics while studying pathogens, and Part V examines the applications for companion diagnostics. The book: • Introduces genomics, proteomics, and transcriptomics in relation to human disease and ailments • Considers the role of translation and personalized medicine in relation to genomics, proteomics, and transcriptomics • Covers molecular and genetic markers • Considers the role of genomics, proteomics, and transcriptomics in relation to pathogen detection, evolution, and infection • Covers companion diagnostics in relation to genomics, proteomics, and transcriptomics clinical applications and research

Educating Health Professionals in Genomic Medicine Evidence Based Strategies and Approaches

Educating Health Professionals in Genomic Medicine  Evidence Based Strategies and Approaches Book
Author : Sylvia Ann Metcalfe,Clara Gaff,Michael Dougherty
Publisher : Frontiers Media SA
Release : 2020-10-09
ISBN : 2889660591
Language : En, Es, Fr & De

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Book Description :

Download Educating Health Professionals in Genomic Medicine Evidence Based Strategies and Approaches book written by Sylvia Ann Metcalfe,Clara Gaff,Michael Dougherty, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Ophthalmic Epidemiology

Ophthalmic Epidemiology Book
Author : Ching-Yu Cheng,Tien Yin Wong
Publisher : CRC Press
Release : 2022-05-25
ISBN : 1351378791
Language : En, Es, Fr & De

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Book Description :

Ophthalmic Epidemiology: Current Concepts to Digital Strategies provides a comprehensive guide to graduate students, ophthalmologists, and researchers in ophthalmic epidemiology. It covers recently developed new methodologies, technologies and resources in ocular epidemiological research, such as telemedicine, disease registries, EMR, bio-banks and omics. This book also summarizes recent epidemiological findings and provides up-to-date data on ocular diseases. Furthermore, it introduces and discusses the uses of epidemiology in the evaluation of health services and population screening programs and reviews the application of epidemiology in intervention trials in the communities. Key Features Comprehensive guide to the epidemiology of common eye diseases. Provides updates on the prevalence and risk factors of eye diseases. Outlines how epidemiological techniques can be utilized to evaluate ophthalmic health services and programs.

A Practical Treatise on the Diseases of the Eye

A Practical Treatise on the Diseases of the Eye Book
Author : William Mackenzie
Publisher : Unknown
Release : 1854
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download A Practical Treatise on the Diseases of the Eye book written by William Mackenzie, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics

Emery and Rimoin   s Principles and Practice of Medical Genetics and Genomics Book
Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publisher : Academic Press
Release : 2021-11-02
ISBN : 0128152370
Language : En, Es, Fr & De

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Book Description :

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field

Essentials of Clinical Informatics

Essentials of Clinical Informatics Book
Author : Mark E. Frisse MD, MS, MBA,Karl E. Misulis MD, PhD
Publisher : Oxford University Press
Release : 2019-04-15
ISBN : 0190855592
Language : En, Es, Fr & De

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Book Description :

Essentials of Clinical Informatics provides a concise and user-friendly overview on important topics such as technical infrastructure, team members and their roles, informatics methods, policies and laws, implementation, and operations. With increased interest in training and expertise in order to participate in all aspects of medical technology from basic function of electronic health record to data analytics and quality improvement to population health, this work serves as a foundational guide to better understand and analyze medical data. The book is separated into six parts: Part 1, "Areas of Focus", is an introduction to the healthcare system and healthcare information systems; Part 2, "The Framework", discusses the theoretical and procedural infrastructure of informatics, including data, knowledge, people, policies, procedures, and regulations; Part 3, "The Foundation", covers the fundamentals of clinical informatics in detail, including data representation, computer science, logic and programming, decision-making and decision support, analytics, user experience, and project management; Part 4, "Application of Informatics in Healthcare", looks at the roles of informatics in the spectrum of healthcare environments from home to hospital to population health; Part 5, "Future Trends', presents a view of future trends and methods to stay current; and Part 6, "Appendix", has reference data, glossary, case discussions, citations, recommendations for further reading, and self-assessment questions which may be of interest to professionals who are preparing for certification examinations.

Copeland and Afshari s Principles and Practice of Cornea

Copeland and Afshari s Principles and Practice of Cornea Book
Author : Anonim
Publisher : JP Medical Ltd
Release : 2013
ISBN : 9350901722
Language : En, Es, Fr & De

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Book Description :

Download Copeland and Afshari s Principles and Practice of Cornea book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Advances in Vision Research Volume II

Advances in Vision Research  Volume II Book
Author : Gyan Prakash,Takeshi Iwata
Publisher : Springer
Release : 2018-11-03
ISBN : 9811308845
Language : En, Es, Fr & De

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Book Description :

This second volume continues with a focus on the state of the art in genetic eye research in Asia and the Pacific. Though there has been an explosion of information on genetic eye research in western countries, more than sixty percent of the human genes involved in eye diseases in the Asian and Pacific population remain unknown. However, new efforts and a new awareness have sparked important discussions on the subject, and new plans are being implemented to discover the genes responsible for many eye diseases in the population. The book reviews the latest findings; its content ranges from genetic aspects of human migration to DNA sequence analysis, genome-wide association analysis, and disease phenotypes. The efforts of the Asian Eye Genetic Consortium (AEGC) are also discussed. The book’s editors have been instrumental in developing strategies for discovering the new Asian genes involved in many eye diseases. All chapters were written by leading researchers working on Asian eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume II will prove to be a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases among the Asian population.

Oxford Handbook of Ophthalmology

Oxford Handbook of Ophthalmology Book
Author : Alastair K. O. Denniston,Philip I. Murray
Publisher : Oxford University Press
Release : 2018-05-24
ISBN : 019252674X
Language : En, Es, Fr & De

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Book Description :

Fully revised and updated throughout, the fourth edition of the Oxford Handbook of Ophthalmology now includes free access to the ophthalmic online media bank, a selection of high-quality clinical images and videos for a wide breadth of key ophthalmic diseases. Clear, concise, and practical, this handbook provides immediate access to the detailed clinical information you need, in casualty, clinic, theatre, and on the wards. The core of the book comprises a systematic synopsis of ophthalmic disease directed towards diagnosis, interim assessment, and ongoing management. Assessment boxes for common clinical conditions and algorithms for important clinical presentations illustrate this practical approach. The information is easily accessible, presented in a clear format with areas of importance highlighted. Key sections for the trainee include: Clinical Skills, Aids to Diagnosis, Investigations and their Interpretation, Perioperative Care, Theatre Notes and Therapeutics. The wider practise of eye-care is supported by expanded chapters on Refractive Ophthalmology, Vision in Context, Evidence Based Ophthalmology and Resources for Ophthalmologists. Now including newer treatments across a range of specialities such as SMILE, gene-therapy and retinal prostheses, as well as greater emphasis on the evidence underlying current clinical practice and guidelines, this handbook has never been more essential for all those working in eye-care. Whether you want to learn about patient-reported outcomes, identify a surgical instrument, interpret a statistical test, or diagnose and treat ophthalmic emergencies, you will find it here. Whatever your role in caring for patients with eye disease: ophthalmologist, optometrist, orthoptist, ophthalmic nurse, or other health profession - discover for yourself why this handbook has become the 'go-to' resource for tens of thousands of eye-care professionals around the world.