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Author : Kavita Jadhav
Publisher : Frontiers Media SA
ISBN 13 : 2832519202
Total Pages : 122 pages
Book Rating : 4.8/5 (325 download)
Download or read book Genetic variants and metabolic diseases written by Kavita Jadhav and published by Frontiers Media SA. This book was released on 2023-03-29 with total page 122 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Tarunveer Singh Ahluwalia
Publisher : Frontiers Media SA
ISBN 13 : 2832544673
Total Pages : 155 pages
Book Rating : 4.8/5 (325 download)
Download or read book Genetic variants and metabolic diseases, volume II written by Tarunveer Singh Ahluwalia and published by Frontiers Media SA. This book was released on 2024-02-12 with total page 155 pages. Available in PDF, EPUB and Kindle. Book excerpt: Metabolic syndrome (MetS) is a set of co-morbidities that collectively increase an individual’s risk of developing cardiovascular disease, stroke, and type 2 diabetes mellitus (T2D). Per the World Health Organization (WHO), MetS is typically characterized by obesity, insulin resistance, hypertension, and hyperlipidemia. Building on this point, some of the major risk factors for development of MetS include increased weight or an obese phenotype, lack of physical activity, and genetics. Interestingly, the last decade has witnessed a deluge of Genome-Wide Association Studies (GWAS) that have linked hundreds of genomic with both collective MetS traits, as well as individual metabolic disorders sitting within it. Currently, in the post-GWAS era, the focus has shifted to characterization of these novel genomic to establish causality and disease relevance. This is being pursued by way of functional validation such as gain- and loss-of-function studies, investigating resulting metabolic phenotypes, mechanisms and pathways underlying these phenotypes, their prevalence and potential for risk stratification across populations, and finally, identification of therapeutic targets for pharmacological intervention.
Author : E. Gilbert-Barness
Publisher : IOS Press
ISBN 13 : 1614997187
Total Pages : 960 pages
Book Rating : 4.6/5 (149 download)
Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.
Author : Santiago Rodríguez
Publisher : Nova Science Publishers
ISBN 13 : 9781606921685
Total Pages : 0 pages
Book Rating : 4.9/5 (216 download)
Download or read book Genetic Endocrinology of the Metabolic Syndrome written by Santiago Rodríguez and published by Nova Science Publishers. This book was released on 2009 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cardiovascular disease and mortality risk are significantly increased in people with metabolic syndrome, a cluster of interrelated metabolic disorders including obesity, insulin resistance, glucose intolerance, dyslipidemia and hypertension. A complex interplay between predisposing and protective factors ultimately determines whether an individual will develop this set of disorders or not. Genetic factors are one of the significant contributors that predispose to, or protect against, each component of the metabolic syndrome. As in other complex diseases and traits, such genetic factors are likely to be multiple and interacting, with individual polymorphisms producing only a moderate effect. The identification of genetic variants influencing the metabolic syndrome is of great importance to understanding pathogenesis, identifying groups of individuals with different relative risk, and developing or improving therapies against this cluster of metabolic disorders. This has greatly stimulated both theoretical and applied genetic research in recent years. A range of new analytical tools has been developed for the dissection of complex traits. Applied genetic analyses have identified large numbers of candidate markers and chromosomal regions (over 600 for obesity, which represents only one of the disorders of this cluster). In this chapter, the authors present a basic overview of the genetic approaches currently used for the identification of candidate genetic factors involved in the metabolic syndrome. The authors also summarise current evidence suggesting that genetic variants within elements of the endocrine system are directly involved in the risk of the metabolic syndrome. The authors focused their attention on endocrine pathways for which candidate genetic variants have been identified, and they introduced the foundations of a new hypothesis which postulates the involvement of a network of endocrine genetic setpoints as a combined contributor to the risk of the metabolic syndrome.
Author : Elizabeth Bundock
Publisher :
ISBN 13 : 9780998904320
Total Pages : pages
Book Rating : 4.9/5 (43 download)
Download or read book Unexplained Pediatric Deaths written by Elizabeth Bundock and published by . This book was released on 2019-11-08 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: This publication reviews medicolegal investigation of sudden, unexpected pediatric deaths, focusing on systems and procedures in the United States and those deaths which remain incompletely understood or entirely unexplained. It discusses the evolution of our understanding and practice in the area of sudden, unexpected pediatric death investigation, covering the changing philosophies and medical theories as to causation and changing investigative and certification strategies. Procedural guidance for investigation, autopsy and ancillary testing, certification and reporting, and key considerations for prevention, research and working with family members and other professional team members are provided.The path to production of this publication began in 2016 when the National Association of Medical Examiners received a scientific grant from the SUDC Foundation called "Sudden Death in Pediatrics: Consensus for Investigation, Certification, Research Direction and Family Needs" to convene, in collaboration with the American Academy of Pediatrics, an expert panel to identify and discuss the diverse issues and limitations surrounding these deaths and build a foundation for national consensus. The combined effort of a panel of medical examiners, pediatricians, and federal agency representatives, representing the diverse interests of death investigation, autopsy performance, certification, clinical subspecialties (pediatrics, neurology, cardiology, child abuse, injury prevention, infectious diseases, genetics, and metabolic diseases), family needs, prevention, and epidemiology, culminated in this publication.
Author : Mohan K. Raizada
Publisher : Springer Science & Business Media
ISBN 13 : 1592598838
Total Pages : 367 pages
Book Rating : 4.5/5 (925 download)
Download or read book Cardiovascular Genomics written by Mohan K. Raizada and published by Springer Science & Business Media. This book was released on 2008-02-24 with total page 367 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recognized scientists and clinicians from around the world discuss the most recent molecular approaches to understanding the cardiovascular system in both health and disease. The authors focus on all components of the system, including blood vessels, heart, kidneys, and the brain, and cover disease states ranging from vascular and cardiac dysfunction to stroke and hypertension. The methods described for identifying the genes that cause susceptibility to cardiovascular diseases emphasize the possibility of discovering new drug targets. Authoritative and ground-breaking, Cardiovascular Genomics offers an unprecedented examination of both the cutting-edge scientific approaches now possible and the results obtained from them in the new science of cardiovascular genomics.
Author : Rafael Trindade Maia
Publisher : BoD – Books on Demand
ISBN 13 : 183881096X
Total Pages : 298 pages
Book Rating : 4.8/5 (388 download)
Download or read book Genetic Variation written by Rafael Trindade Maia and published by BoD – Books on Demand. This book was released on 2021-05-19 with total page 298 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic diversity is one of the measures of biodiversity and has consequences in biological variation. It is crucial to understand the evolutionary and adaptative processes in all living species. This book is an interdisciplinary and integrated work that will contribute to the knowledge of academics from different areas of biological sciences. This collection of scientific papers was chosen and analyzed to offer readers a broad and integrated view of the importance of genetic diversity in the evolution and adaptation of living beings, as well as practical applications of the information needed to analyze this diversity in different organisms. This book was edited by geneticist researchers and provides academics with up-to-date and quality information on the subject.
Author : Carla E. M. Hollak
Publisher : Oxford University Press
ISBN 13 : 0199972133
Total Pages : 657 pages
Book Rating : 4.1/5 (999 download)
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.
Author : Segun Fatumo
Publisher : Frontiers Media SA
ISBN 13 : 2889744647
Total Pages : 123 pages
Book Rating : 4.8/5 (897 download)
Download or read book Genetics of Complex Traits & Diseases from Under-Represented Populations written by Segun Fatumo and published by Frontiers Media SA. This book was released on 2022-02-22 with total page 123 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Che-Pei Kung
Publisher : Frontiers Media SA
ISBN 13 : 2889630307
Total Pages : 130 pages
Book Rating : 4.8/5 (896 download)
Download or read book Double-edged Swords: Genetic Factors That Influence the Pathogenesis of Both Metabolic Disease and Cancer written by Che-Pei Kung and published by Frontiers Media SA. This book was released on 2019-09-23 with total page 130 pages. Available in PDF, EPUB and Kindle. Book excerpt: Metabolic diseases and cancers account for half of all mortalities in the world, underscoring the significance of understanding the etiology of these diseases and developing effective therapies. Genomic research in the 21st century has brought cancer and metabolic disease, two once seemingly parallel ailments, as close to each other as they’ve ever been. Many genetic factors have been found to display functions regulating both cancer and metabolic disease. In this research topic: "Double-edged Swords: Genetic Factors That Influence The Pathogenesis of Both MetabolicDisease and Cancer", you will be introduced to individual genes, as well as genetic pathways that play important roles in influencing the progression of both metabolic disease and cancer. By no means covering an exhaustive list of genes qualified, this collection of articles rather serves as a precursor of what is yet to come in biomedical research. It paints the big picture of one of the major fields contributing to the future of “precision medicine”.
Author : Reed E. Pyeritz
Publisher : Academic Press
ISBN 13 : 0128152370
Total Pages : 320 pages
Book Rating : 4.1/5 (281 download)
Download or read book Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2021-11-02 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Author : June K. Lloyd
Publisher : Butterworth-Heinemann
ISBN 13 : 1483161013
Total Pages : 335 pages
Book Rating : 4.4/5 (831 download)
Download or read book Genetic and Metabolic Disease in Pediatrics written by June K. Lloyd and published by Butterworth-Heinemann. This book was released on 2014-04-24 with total page 335 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic and Metabolic Disease in Pediatrics is a compendium of papers that discusses the problems of inborn diseases in terms of homeostasis. One paper traces "backward" from the disease phenotype to discover and investigate the gene, as well as moves "forward" from mutation in DNA to discover phenotypes or proteins connected with the disease. Specific genes are assigned to particular places (loci) on chromosomes that can manifest the presence or type of disease. Another paper examines a classical disease—osteogenesis imperfecta—pointing out that the aberrant collagen of osteogenesis imperfecta reflects mutation at chromosomes 7 and 17. Another paper shows that in osteogenesis imperfecta, Mendelian phenotypes lead to genes and their products as being involved in critical aspects of protein traffic in human cells. Several papers examine the inborn errors of metabolism covering the lacticacidemias, urea synthesis, the hyperphenylalaninaemias, and the hyperlipidaemias. Other papers investigate the effects of metabolic dishomeostasis caused by variant maternal genotypes on fetal development, the "androgen pathway, its known Mendelian variants
Author : Irene Dankwa-Mullan
Publisher : John Wiley & Sons
ISBN 13 : 1119374812
Total Pages : 548 pages
Book Rating : 4.1/5 (193 download)
Download or read book The Science of Health Disparities Research written by Irene Dankwa-Mullan and published by John Wiley & Sons. This book was released on 2021-03-16 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: Integrates the various disciplines of the science of health disparities in one comprehensive volume The Science of Health Disparities Research is an indispensable source of up-to-date information on clinical and translational health disparities science. Building upon the advances in health disparities research over the past decade, this authoritative volume informs policies and practices addressing the diseases, disorders, and gaps in health outcomes that are more prevalent in minority populations and socially disadvantaged communities. Contributions by recognized scholars and leaders in the field—featuring contemporary research, conceptual models, and a broad range of scientific perspectives—provide an interdisciplinary approach to reducing inequalities in population health, encouraging community engagement in the research process, and promoting social justice. In-depth chapters help readers better understand the specifics of minority health and health disparities while demonstrating the importance of advancing theory, refining measurement, improving investigative methods, and diversifying scientific research. In 26 chapters, the book examines topics including the etiology of health disparities research, the determinants of population health, research ethics, and research in African American, Asians, Latino, American Indian, and other vulnerable populations. Providing a unified framework on the principles and applications of the science of health disparities research, this important volume: Defines the field of health disparities science and suggests new directions in scholarship and research Explains basic definitions, principles, and concepts for identifying, understanding and addressing health disparities Provides guidance on both conducting health disparities research and translating the results Examines how social, historical and contemporary injustices may influence the health of racial and ethnic minorities Illustrates the increasing national and global importance of addressing health disparities Discusses population health training, capacity-building, and the transdisciplinary tools needed to advance health equity A significant contribution to the field, The Science of Health Disparities Research is an essential resource for students and basic and clinical researchers in genetics, population genetics, and public health, health care policymakers, and epidemiologists, medical students, and clinicians, particularly those working with minority, vulnerable, or underserved populations.
Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309101964
Total Pages : 385 pages
Book Rating : 4.3/5 (91 download)
Download or read book Genes, Behavior, and the Social Environment written by Institute of Medicine and published by National Academies Press. This book was released on 2006-12-07 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.
Author : Paolo Sassone-Corsi
Publisher : Springer
ISBN 13 : 3319270699
Total Pages : 132 pages
Book Rating : 4.3/5 (192 download)
Download or read book A Time for Metabolism and Hormones written by Paolo Sassone-Corsi and published by Springer. This book was released on 2016-04-04 with total page 132 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recent years have seen spectacular advances in the field of circadian biology. These have attracted the interest of researchers in many fields, including endocrinology, neurosciences, cancer, and behavior. By integrating a circadian view within the fields of endocrinology and metabolism, researchers will be able to reveal many, yet-unsuspected aspects of how organisms cope with changes in the environment and subsequent control of homeostasis. This field is opening new avenues in our understanding of metabolism and endocrinology. A panel of the most distinguished investigators in the field gathered together to discuss the present state and the future of the field. The editors trust that this volume will be of use to those colleagues who will be picking up the challenge to unravel how the circadian clock can be targeted for the future development of specific pharmacological strategies toward a number of pathologies.
Author : Georg F. Hoffmann
Publisher : Springer Science & Business Media
ISBN 13 : 3540747230
Total Pages : 380 pages
Book Rating : 4.5/5 (47 download)
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.
Author : Claude Bouchard
Publisher : CRC Press
ISBN 13 : 1000141608
Total Pages : 262 pages
Book Rating : 4.0/5 (1 download)
Download or read book The Genetics of Obesity written by Claude Bouchard and published by CRC Press. This book was released on 2020-08-11 with total page 262 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive compilation of the evidence available regarding the role of genetic differences in the etiology of human obesities and their health and metabolic implications. It also identifies the most promising research areas, methods, and strategies for use in future efforts to understand the genetic basis of obesities and their consequences on human health. Leading researchers in their respective fields present contributed chapters on such topics as etiology and the prevalence of obesities, nongenetic determinants of obesity and fat topography, and animal models and molecular biological technology used to delineate the genetic basis of human obesities. A major portion of the book is devoted to human genetic research and clinical observations encompassing adoption studies, twin studies, family studies, single gene effects, temporal trends and etiology heterogeneity, energy intake and food preference, energy expenditure, and susceptibility to metabolic derangements in the obese state. Future directions of research in the field are covered in the book as well.
