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Molecular Genetic Causes Underlying Primary Adrenal Insufficiency Current Insights Into Diagnosis And Treatments Book in PDF, ePub and Kindle version is available to download in english. Read online anytime anywhere directly from your device. Click on the download button below to get a free pdf file of Molecular Genetic Causes Underlying Primary Adrenal Insufficiency Current Insights Into Diagnosis And Treatments book. This book definitely worth reading, it is an incredibly well-written.
Author : Liliana Dain,Tania Bachega,Maria Candida Barisson Villares Fragoso
Publisher : Frontiers Media SA
Page : 113 pages
File Size : 43,8 Mb
Release : 2022-10-07
Category : Medical
ISBN : 9782832501825
Author : Anonim
Publisher : Academic Press
Page : 4225 pages
File Size : 46,9 Mb
Release : 2018-09-12
Category : Medical
ISBN : 9780128122006
Encyclopedia of Endocrine Diseases, Second Edition, Five Volume Set comprehensively reviews the extensive spectrum of diseases and disorders that can occur within the endocrine system. It serves as a useful and comprehensive source of information spanning the many and varied aspects of the endocrine end metabolic system. Students will find a concise description of the physiology and pathophysiology of endocrine and metabolic functions, as well as their diseases. Each article provides a comprehensive overview of the selected topic to inform a broad spectrum of readers, from advanced undergraduate students, to research professionals. Chapters explore the latest advances and hot topics that have emerged in recent years, such as the molecular basis of endocrine and metabolic diseases (mutations, epigenetics, signaling), the pathogenesis and therapy of common endocrine diseases (e.g. diabetes and endocrine malignancies), new technologies in endocrine research, new methods of treatment, and endocrine toxicology/disruptors. Covers all aspects of endocrinology and metabolism Incorporates perspectives from experts working within the domains of biomedicine (e.g. physiology, pharmacology and toxicology, immunology, genetics) and clinical sciences to provide readers with reputable, multi-disciplinary content from domain experts Provides a ‘one-stop’ resource for access to information as written by world-leading scholars in the field, with easy cross-referencing of related articles to promote understanding and further research
Author : Eugene G. Hrycay,Stelvio M. Bandiera
Publisher : Springer
Page : 368 pages
File Size : 41,6 Mb
Release : 2015-05-22
Category : Medical
ISBN : 9783319160092
This book describes in 13 chapters mechanisms of P450 used to monooxygenate substrates via the NAD(P)H/O2 pathway using its peroxidase and peroxygenase functions. P450 also utilizes peroxides, peracids, periodate and iodosobenzene to oxygenate substrates via the shunt pathway. Also described are mechanisms used in the oxidation of pharmaceuticals by CYP3A4; acyl- carbon cleavage by CYP17A1, CYP19A1 and CYP51A1; metabolism of tetrabromodiphenyl ethers and bile acids by CYP2B6 and CYP3A4; metabolism of ω-6 and ω-3 polyunsaturated fatty acids; H2O2-mediated peroxygenation of substrates using substrate misrecognition; P450 oxidative reactions using electrochemical methods; electron transfer to P450 by redox proteins; hydroxylation of 1,8-cineole by P450cin; and peroxygenation by unspecific peroxygenases using H2O2. The topics covered are relevant to P450 researchers, professors and students from a variety of disciplines ranging from pharmacology, toxicology and microbiology to chemistry.
Author : Institute of Medicine,Committee on Assessing Genetic Risks
Publisher : National Academies Press
Page : 353 pages
File Size : 49,9 Mb
Release : 1994-01-01
Category : Medical
ISBN : 9780309047982
Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Author : William B. Coleman,Gregory J. Tsongalis
Publisher : Academic Press
Page : 802 pages
File Size : 40,9 Mb
Release : 2017-11-09
Category : Medical
ISBN : 9780128027875
As the molecular basis of human disease becomes better characterized, and the implications for understanding the molecular basis of disease becomes realized through improved diagnostics and treatment, Molecular Pathology, Second Edition stands out as the most comprehensive textbook where molecular mechanisms represent the focus. It is uniquely concerned with the molecular basis of major human diseases and disease processes, presented in the context of traditional pathology, with implications for translational molecular medicine. The Second Edition of Molecular Pathology has been thoroughly updated to reflect seven years of exponential changes in the fields of genetics, molecular, and cell biology which molecular pathology translates in the practice of molecular medicine. The textbook is intended to serve as a multi-use textbook that would be appropriate as a classroom teaching tool for biomedical graduate students, medical students, allied health students, and others (such as advanced undergraduates). Further, this textbook will be valuable for pathology residents and other postdoctoral fellows that desire to advance their understanding of molecular mechanisms of disease beyond what they learned in medical/graduate school. In addition, this textbook is useful as a reference book for practicing basic scientists and physician scientists that perform disease-related basic science and translational research, who require a ready information resource on the molecular basis of various human diseases and disease states. Explores the principles and practice of molecular pathology: molecular pathogenesis, molecular mechanisms of disease, and how the molecular pathogenesis of disease parallels the evolution of the disease Explains the practice of “molecular medicine and the translational aspects of molecular pathology Teaches from the perspective of “integrative systems biology Enhanced digital version included with purchase
Author : William B. Coleman,Gregory J. Tsongalis
Publisher : Academic Press
Page : 634 pages
File Size : 53,6 Mb
Release : 2019-11-23
Category : Medical
ISBN : 9780128132586
Essential Concepts in Molecular Pathology, Second Edition, offers an introduction to molecular genetics and the "molecular" aspects of human disease. The book illustrates how pathologists harness their understanding of these entities to develop new diagnostics and treatments for various human diseases. This new edition offers pathology, genetics residents, and molecular pathology fellows an advanced understanding of the molecular mechanisms of disease that goes beyond what they learned in medical and graduate school. By bridging molecular concepts of pathogenesis to the clinical expression of disease in cell, tissue and organ, this fully updated, introductory reference provides the background necessary for an understanding of today’s advances in pathology and medicine. Explains the practice of "molecular medicine" and the translational aspects of molecular pathology, including molecular diagnostics, molecular assessment and personalized medicine Orients non-pathologists on what pathologists look for and how they interpret their observational findings based on histopathology Provides the reader with what is missing from most targeted introductions to pathology—the cell biology behind pathophysiology
Author : Karel Pacak,Graeme Eisenhofer
Publisher : Unknown
Page : 0 pages
File Size : 44,5 Mb
Release : 2002
Category : Adrenal Gland Neoplasms
ISBN : 1573314188
Several genetic, biochemical and radiologic discoveries have impacted the management of endocrine hypertension, while surgical procedures have revolutionized treatment of patients with endocrine hypertension. This text contains the proceedings of a 2001 workshop on the topic.
Author : Pierre C. Sizonenko,Michel L. Aubert
Publisher : Lippincott Williams & Wilkins
Page : 276 pages
File Size : 54,8 Mb
Release : 1990
Category : Medical
ISBN : UOM:39015019670242
Author : Manuchair Ebadi
Publisher : CRC Press
Page : 824 pages
File Size : 41,6 Mb
Release : 2007-10-31
Category : Medical
ISBN : 1420047442
Since the publication of the bestselling first edition of CRC Desk Reference of Clinical Pharmacology, dramatic discoveries in molecular medicine along with rapid technological advances have revolutionized the diagnosis and resulted in new medications to be used in the treatment of a broad range of human diseases. To stay abreast of these rapidly emerging drugs and novel avenues of treatment constant vigilance is required. Specifically prepared for healthcare professionals, Desk Reference of Clinical Pharmacology, Second Edition offers the most authoritative, comprehensive, informative, and useful book to include all drugs used in clinical practice. New to the Second Edition— · Novel therapies including the use of peptides in the treatment of peptic ulcers and IBS as well as new information on the use of melatonin in sleep disorders · Discoveries in molecular medicine, such as suicide gene therapy, monoclonal antibodies, and drug interference with signal transduction pathway therapeutics The book offers concise and informative A-Z drug facts in an encyclopedia format and contains brief descriptions of conditions, diseases, and disorders presented along with their applicable treatments. The completely expanded introductory chapters contain short review entries on the pharmacokinetic basis of therapeutics, concepts of pharmacodynamics, and the principles of drug-drug interactions and drug-food interactions. They include discussions on state-of-the-art treatments such as immunotherapy of cancer, antisense therapies, suicide gene therapy, and pharmacogenomics, which is leading to tailor-made drugs based on genetic makeup. The second edition of the Desk Reference of Clinical Pharmacology contains more entries, up-to-date information on revolutionizing therapeutics, and an exhaustive list of maladies and their treatments. It is a definitive reference for any member of a healthcare delivery team and a valuable resource for those involved in the study of clinical pharmacology.
Author : Alice C. Levine
Publisher : Humana Press
Page : 336 pages
File Size : 47,8 Mb
Release : 2017-10-24
Category : Medical
ISBN : 9783319624709
This practical resource provides the latest evidence, management strategies and recommendations for the treatment of disorders of the adrenal glands, including related physiology, genetics and pharmacology. This book is divided into three thematic sections. The first covers adrenal physiology, presenting adrenal zonation and development, the regulation of steroidogenesis, and the pharmacology of glucocortisoids. Part two discusses the genetics and pathophysiology of a number of adrenal disorders, including autoimmune Addison’s disease, congenital adrenal hyperplasia, primary aldosteronism, adrenocortical tumors and hyperplasias, and pheochromocytomas and paragangliomas. The final section presents the latest diagnostic and management strategies for these disorders, addressing adrenal insufficiency, adrenal Cushing’s Syndrome and aldosteronism, among others. Over the past twenty years, our understanding of disorders of the adrenal glands has been altered and deepened. Providing a much-needed update to the literature, Adrenal Disorders: Physiology, Pathophysiology and Treatment will be an important resource for both academic and clinical endocrinologists working with the adrenal glands and managing patients with adrenal disorders.
Author : Nenad Blau,Marinus Duran,K Michael Gibson,Carlo Dionisi Vici
Publisher : Springer
Page : 867 pages
File Size : 43,9 Mb
Release : 2014-07-08
Category : Medical
ISBN : 9783642403378
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.
Author : Farhadul Islam,Ichiro Abe,Alfred King-yin Lam,Suja Pillai
Publisher : Frontiers Media SA
Page : 122 pages
File Size : 40,6 Mb
Release : 2021-10-14
Category : Medical
ISBN : 9782889714827
Author : Terry F. Davies
Publisher : Springer
Page : 453 pages
File Size : 52,6 Mb
Release : 2015-10-22
Category : Medical
ISBN : 9781493920594
In A Case-Based Guide to Clinical Endocrinology, Second Edition, a renowned group of distinguished clinicians once again provides stimulating instruction and insights into a wide variety of endocrine topics, teaching readers modern management of the conditions described and offering targeted entry into the literature. Importantly, many of the important elements in the current curriculum for clinical endocrine training as recommended by the Association of Program Directors in Clinical Endocrinology, Diabetes and Metabolism are covered in this text. Thoroughly updated, this new edition not only covers new treatment approaches but also emphasizes the latest investigative advances in both imaging and molecular diagnostics. To reinforce learning and retention of knowledge, a question-based approach is used in many of the case studies. Students, residents, fellows, and practitioners will find this reference to be an efficient way to review their understanding and increase their skills and abilities in patient investigation and management. An invaluable contribution to the field, A Case-Based Guide to Clinical Endocrinology, Second Edition, offers the same comprehensive volume of thought-provoking case-studies that made the first edition of significant importance to all clinicians who treat patients with endocrine disorders.
Author : Suzanne B. Cassidy,Judith E. Allanson
Publisher : John Wiley & Sons
Page : 1678 pages
File Size : 48,9 Mb
Release : 2011-09-20
Category : Medical
ISBN : 9781118210673
The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics
Author : Jonathan Barratt,Peter Topham
Publisher : Oxford University Press, USA
Page : 777 pages
File Size : 55,9 Mb
Release : 2009
Category : Medical
ISBN : 9780199229567
This comprehensive nephrology desk reference focuses on aspects of renal disease that are important to the clinician, and brings together the key recommendations found in current evidence-based guidelines and presents them in a uniform, easy to use, and accessible format.
