biochemical and molecular basis of pediatric disease

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Biochemical and Molecular Basis of Pediatric Disease
Author : Edward C.C. Wong,Dennis J. Dietzen,Michael J. Bennett
Publisher : Academic Press
Release Date : 2020-12-01
ISBN 10 : 0128179635
Pages : 725 pages
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Biochemical and Molecular Basis of Pediatric Disease, Fifth Edition has been a well-respected reference in the field for decades. This revision continues the strong focus on understanding the pathogenesis of pediatric disease, emphasizing not only the important role of the clinical laboratory in defining parameters that change with the disease process, but also the molecular basis of many pediatric diseases. Provides a fully-updated resource with more color illustrations Focuses on the biochemical and molecular basis of disease as well as the analytical techniques Defines important differences in the pathophysiology of diseases, comparing childhood with adult

Biochemical Basis of Pediatric Disease
Author : Steven J. Soldin,Nader Rifai,Jocelyn M. Hicks
Publisher : American Association for Clinical Chemistry, Incorporated
Release Date : 1995
ISBN 10 :
Pages : 684 pages
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Neurology of Hereditary Metabolic Diseases of Children: Third Edition
Author : Gilles Lyon,Edwin Kolodny,Gregory Pastores
Publisher : McGraw Hill Professional
Release Date : 2010-05-16
ISBN 10 : 0071491996
Pages : 500 pages
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The expert, up-to-date guidance you need to identify, understand, and treat neurogenetic disorders in children Written in a readily-accessible, highly-readable style, this unique reference offers a sound starting point and clinical step-by-step approach to treating the complex and often baffling neurogenetic diseases found in children. Conveniently organized by age groups from prenatal diagnosis to neonate to childhood, each chapter begins by describing symptoms (similar to the way a patient would present), and then guides you through confirming the diagnosis and choosing the appropriate course of therapy. Completely updated to reflect the significant advances made following the discovery of the DNA sequence on the human genome, the Third Edition of Neurology of Hereditary Metabolic Diseases of Children clarifies the complicated genetics and biochemistry of these illnesses and will prove to be invaluable to the non-specialist and specialist alike. New to the Third Edition: Tables categorizing diseases by mechanisms Treatment for disorders that previously had no known treatment options Thorough discussion of new molecular, biochemical, and brain imaging tests - and how to select the one most likely to reveal a particular disease Case examples with clinical pearls Web sites and contact information for patient support groups

Precision Molecular Pathology of Neoplastic Pediatric Diseases
Author : Larissa V. Furtado,Aliya N. Husain
Publisher : Springer
Release Date : 2018-08-01
ISBN 10 : 3319896261
Pages : 360 pages
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This book provides a comprehensive, state-of-the art review of pediatric oncology. The text covers relevant concepts in molecular biology and addresses technical principles, applications, challenges, and integration of current and emerging genomic and molecular methods in the diagnosis and personalized management of childhood cancers. The text also discusses a wide array of pediatric neoplasms in the context of molecular pathology in a concise and understandable manner, with focus on their molecular pathogenesis, clinicopathological features, classification, molecular diagnosis, and approaches to personalized care. Written by experts in the field, Precision Molecular Pathology of Neoplastic Pediatric Diseases serves as a valuable resource for pathologists, pediatric oncologists, trainees and researchers with an interest in pediatric and molecular pathology.

Comprehensive Pediatric Nephrology E-Book
Author : Denis F. Geary,Franz Schaefer
Publisher : Elsevier Health Sciences
Release Date : 2008-05-16
ISBN 10 : 0323070965
Pages : 1040 pages
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This new clinical resource brings you a state-of-the-art comprehensive review on every clinical condition encountered in pediatric nephrology in one concise, clinically focused text. International experts provide you with the latest on epidemiology, diagnosis, investigations, management, and prognosis for a full range of pediatric kidney disorders. A full-color, highly visual, meticulously crafted format, makes this material remarkably easy for you to access and apply. Comprehensive Pediatric Nephrology also serves as an ideal resource for board review study for the ABP subspecialty boards in pediatric nephrology. Just the right amount of "need-to-know" basic science coupled with practical clinical guidance for every disorder helps you make efficient, informed decisions. The book provides a much needed update on the genetic origins of pediatric kidney disorders. Chapters about glomerulonephritis, nephrotic syndrome, and tubular disorders provide an orientation in the pathophysiology, differential diagnosis, and treatment of these heterogeneous disease entities. Disease specific chapters include diagnostic work-up, laboratory evaluation, and management of disorders and complications, making this necessary information readily accessible. The prevention and management of pediatric chronic renal failure and its complications are comprehensively covered in many detailed chapters. Four chapters devoted to childhood hypertension offer you insights into an increasingly prevalent condition among pediatric patients so you can treat them more effectively. A chapter on the role of the interventional radiologist in pediatric nephrology keeps you apprised of the latest advances in a key area in the field. The function of complementary and alternative medicine in patients with renal disease is reviewed for the first time in a standard pediatric nephrology textbook. A consistent organization throughout and a full-color layout lets you find diagnostic guidance quickly.

Pediatric Laboratory Medicine
Author : Patricia M. Jones,Dennis J. Dietzen,Shannon Haymond,Michael J. Bennett
Publisher : McGraw Hill Professional
Release Date : 2017-05-22
ISBN 10 : 0071839275
Pages : 544 pages
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A complete full-color guide to medical laboratory test selection and test result interpretation for disorders and diagnoses specific to pediatric and neonatal populations Laboratory medicine practiced at a pediatric institution has unique characteristics specific to infants and children, who differ both metabolically and biochemically from adults. Many aspects of laboratory medicine are affected by these differences, from basic, day-to-day operational issues through test selection for pediatric-specific disorders. However, most references in laboratory medicine merely touch upon pediatrics – and offer little if any coverage of variations in testing and results for different age groups, or the many diseases and disorders most common in infants and children. Pediatric Laboratory Medicine is specifically written to fill this critical void in the literature. Now, for the first time, all important reference material concerning pediatric laboratory medicine is available in one convenient, up-to-date resource. Pediatric Laboratory Medicine teaches the effective operation of a pediatric clinical operation, and also provides guidelines for teaching trainees. This unique text delivers the how-to instruction necessary to ensure proper handling and testing of pediatric specimens to ensure accurate diagnosis. Valuable learning aids include learning objectives, end-of-chapter review questions, and references for further study. Written by experienced clinicians, the book’s seventeen chapters cover virtually every important topic – from daily issues in the practice of pediatric laboratory medicine to common tests and considerations to inborn errors of metabolism and therapeutic drug monitoring. Enhanced by numerous tables and high-quality full-color images, this authoritative resource delivers everything necessary for effective pediatric laboratory medicine training and practice.

Developmental-behavioral Pediatrics
Author : N.A
Publisher : Elsevier Health Sciences
Release Date : 2008
ISBN 10 : 032304025X
Pages : 975 pages
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Based on the Diagnostic and Statistical Manual for Primary Care: Child and Adolescent Version (DSM-PC), this state-of-the-art reference expertly guides you through normal and abnormal development and behavior for all pediatric age groups. See how neurobiological, environmental, and human relationship factors all contribute to developmental and behavioral disorders and know how to best diagnose and treat each patient you see. Accurately identify developmental and behavioral problems using the Diagnostic and Statistical Manual for Primary Care criteria, and evidence-based guidelines. Gain a clear understanding of the "normal" boundaries and variations within specific disorders. Make informed therapeutic decisions with the integration of basic science and practical information and recommendations from the Society of Developmental and Behavioral Pediatrics and the American Academy of Pediatrics. Avoid legal and ethical implications by consulting the Law, Policy, and Ethics chapter. Download the DSM PC criteria from the included CD, as well as tables and illustrations for use in electronic presentations.

Oxidative Phosphorylation in Health and Disease
Author : Jan A.M. Smeitink
Publisher : Springer Science & Business Media
Release Date : 2004-11-02
ISBN 10 : 9780306482328
Pages : 205 pages
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Mitochondrial diseases are often hard to diagnose. From the time they were first researched without animal models, patients of mitochondrial diseases were of equal interest to both clinical and basic scientists. With the new research done, this book includes updates on the normal structure, function, and molecular biology of the mitochondrial respiratory chain, information on traditional diagnostical methodologies, and an overview of the diagnostic promise of new technologies. The hypermetabolism of Luft disease, although only seen twice, is also studied. There are critical reviews of symptoms and signs associated with syndromes, as well as updates on the genetic defects of either the mitochondrial or the nuclear genome responsible for many disorders.

Tietz Textbook of Clinical Chemistry and Molecular Diagnostics - E-Book
Author : Carl A. Burtis,Edward R. Ashwood,David E. Bruns
Publisher : Elsevier Health Sciences
Release Date : 2012-10-14
ISBN 10 : 1455759422
Pages : 2256 pages
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As the definitive reference for clinical chemistry, Tietz Textbook of Clinical Chemistry and Molecular Diagnostics, 5th Edition offers the most current and authoritative guidance on selecting, performing, and evaluating results of new and established laboratory tests. Up-to-date encyclopedic coverage details everything you need to know, including: analytical criteria for the medical usefulness of laboratory procedures; new approaches for establishing reference ranges; variables that affect tests and results; the impact of modern analytical tools on lab management and costs; and applications of statistical methods. In addition to updated content throughout, this two-color edition also features a new chapter on hemostasis and the latest advances in molecular diagnostics. Section on Molecular Diagnostics and Genetics contains nine expanded chapters that focus on emerging issues and techniques, written by experts in field, including Y.M. Dennis Lo, Rossa W.K. Chiu, Carl Wittwer, Noriko Kusukawa, Cindy Vnencak-Jones, Thomas Williams, Victor Weedn, Malek Kamoun, Howard Baum, Angela Caliendo, Aaron Bossler, Gwendolyn McMillin, and Kojo S.J. Elenitoba-Johnson. Highly-respected author team includes three editors who are well known in the clinical chemistry world. Reference values in the appendix give you one location for comparing and evaluating test results. NEW! Two-color design throughout highlights important features, illustrations, and content for a quick reference. NEW! Chapter on hemostasis provides you with all the information you need to accurately conduct this type of clinical testing. NEW! Six associate editors, Ann Gronowski, W. Greg Miller, Michael Oellerich, Francois Rousseau, Mitchell Scott, and Karl Voelkerding, lend even more expertise and insight to the reference. NEW! Reorganized chapters ensure that only the most current information is included.

Robbins & Cotran Pathologic Basis of Disease E-Book
Author : Vinay Kumar,Abul K. Abbas,Nelson Fausto,Jon C. Aster
Publisher : Elsevier Health Sciences
Release Date : 2009-06-10
ISBN 10 : 1437720153
Pages : 1464 pages
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One of the best-selling medical textbooks of all time, Robbins and Cotran Pathologic Basis of Disease is the one book that nearly all medical students purchase, and is also widely used by physicians worldwide. A "who's who" of pathology experts delivers the most dependable, current, and complete coverage of today's essential pathology knowledge. At the same time, masterful editing and a practical organization make mastering every concept remarkably easy. The result remains the ideal source for an optimal understanding of pathology. Offers the most authoritative and comprehensive, yet readable coverage available in any pathology textbook, making it ideal for USMLE or specialty board preparation as well as for course work. Delivers a state-of-the-art understanding of the pathologic basis of disease through completely updated coverage, including the latest cellular and molecular biology. Demonstrates every concept visually with over 1,600 full-color photomicrographs and conceptual diagrams - many revised for even better quality. Facilitates learning with an outstanding full-color, highly user-friendly design.

Robbins and Cotran Pathologic Basis of Disease, Professional Edition E-Book
Author : Vinay Kumar,Abul K. Abbas,Nelson Fausto,Jon C. Aster
Publisher : Elsevier Health Sciences
Release Date : 2009-06-10
ISBN 10 : 1437721826
Pages : 1464 pages
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One of the best-selling medical textbooks of all time, Robbins and Cotran Pathologic Basis of Disease is the one book you likely purchased as a medical student that still provides answers now that you're in practice. The new PROFESSIONAL EDITION is the same "who's who" of pathology experts that delivers the most dependable, current, and complete coverage of today's essential pathology knowledge, now enhanced with PERKS DESIGNED SPECIALLY FOR YOU AS A PRACTITIONER. Masterful editing and a practical organization make learning or reinforcing every concept remarkably easy. The result remains the ideal source for an optimal understanding of pathology at its core. Offers the most authoritative and comprehensive, yet readable coverage available in any pathology textbook, making it ideal for USMLE or specialty board preparation as well as for course work

Biochemical and Molecular Basis for Inherited Muscle Disease in the Horse
Author : Tara L. Ward
Publisher : N.A
Release Date : 2003
ISBN 10 :
Pages : 242 pages
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The Molecular Basis for the Link Between Maternal Health and the Origin of Fetal Congenital Abnormalities
Author : Bashir M. Matata,Maqsood M. Elahi
Publisher : Bentham Science Publishers
Release Date : 2011
ISBN 10 : 1608052869
Pages : 128 pages
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This e-book discusses the molecular relationship between biological systems and risk factors for in-utero oxidative insults, maternal health and the impact on fetus at different critical developmental time windows (prenatal or even postnatal). Plausibly, prenatal and early postnatal periods are the most critical "windows" to oxidative stress programming insults. Pro-oxidative stress is a common feature of many conditions associated with adverse fetal growth and/or preterm birth, such as pre-eclampsia, diabetes, smoking, malnutrition or excessive nutrition, infection or inflammation. Oxidative.

Biomedical Index to PHS-supported Research
Author : N.A
Publisher : N.A
Release Date : 1995
ISBN 10 :
Pages : 329 pages
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Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
Author : Roger N. Rosenberg,Juan M. Pascual
Publisher : Elsevier
Release Date : 2014-10-28
ISBN 10 : 0124105491
Pages : 1464 pages
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Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations

Genetics of Bone Biology and Skeletal Disease
Author : Rajesh V. Thakker,Michael P. Whyte,John Eisman,Takashi Igarashi
Publisher : Academic Press
Release Date : 2017-10-31
ISBN 10 : 0128041986
Pages : 878 pages
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Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder

The Molecular and Genetic Basis of Neurologic and Psychiatric Disease
Author : Roger N. Rosenberg
Publisher : Lippincott Williams & Wilkins
Release Date : 2008
ISBN 10 : 9780781769563
Pages : 882 pages
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Completely updated for its Fourth Edition, this book is the most comprehensive, current review of the molecular and genetic basis of neurologic and psychiatric diseases. More than 120 leading experts provide a fresh, new assessment of recent molecular, genetic, and genomic advances, offer new insights into disease pathogenesis, describe the newest available therapies, and explore promising areas of therapeutic development. This edition features an updated section on psychiatric disease and expanded, updated chapters on human genomics, gene therapy, and ethical issues. Six new chapters cover congenital myasthenic syndromes, hereditary spastic paraplegia, ion channel disorders, the phakomatoses, beta-galactosidase deficiency, and prion diseases. A Neurologic Gene Map describes the chromosome locus of all the genetic diseases and their gene product where known. The fully searchable online text will be available on a companion Website. (www.rosenbergneuroandpsychdisease.com)

Vitamin D, An Issue of Rheumatic Disease Clinics - E-Book
Author : Sol Epstein
Publisher : Elsevier Health Sciences
Release Date : 2012-02-28
ISBN 10 : 1455743135
Pages : 257 pages
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This issue features internationally renowned experts who have provided their expertise on a variety of topics related to the importance of vitamin D. It was not until feed back loops were identified between Vitamin D production and parathyroid hormone, phosphate that it earned its place as a true endocrine hormone. Current social and economic conditions have brought it back into the limelight with outbreaks of rickets and osteomalacia even in developed countries. However its complex regulation, together with the identification and characterization of the vitamin D receptor and its role in influencing multiple genetic pathways and function has heralded a new era highlighting its importance in health and disease. This includes its role in auto immune diseases such as multiple sclerosis, diabetes mellitus, cancer especially breast and prostate, skin, neurological and cognitive disorders and infectious diseases such as tuberculosis. We now know that adequate levels of vitamin D it is important in preventing falls and fracture. The need for supplementation and the amount recommended has also changed considerably from what we previously considered sufficient. The ongoing development of selective active analogs of vitamin D targeted to specific organs and function leads to the exciting possibility of improving outcomes of diseases associated with vitamin D regulation.

Molecular Basis of Pulmonary Disease
Author : Francis X. McCormack,Ralph J. Panos,Bruce C. Trapnell
Publisher : Springer Science & Business Media
Release Date : 2010-03-10
ISBN 10 : 9781597453844
Pages : 438 pages
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The study of rare lung disorders enhances our understanding of common pulmonary diseases such as fibrosis and emphysema. Molecular Basis of Lung Disease: Insights from Rare Disorders brings together a panel of distinguished clinicians and molecular scientists who are experts in a range of rare lung diseases and their underlying molecular defects. Each chapter focuses on the pathogenic mechanisms and therapeutic targets suggested by basic research and follows an easy to read format: brief introduction followed by discussion of epidemiology, genetic basis and molecular pathogenesis, animal models, clinical presentation, diagnostic approaches, conventional management and treatment strategies, as well as future therapeutic targets and directions. Disorders ranging from the Marfan and Goodpasture’s syndromes to Sarcoidosis and alpha one titrypsin deficiency are treated in detail. Written for pulmonary clinicians and scientists alike, Molecular Basis of Lung Disease: Insights from Rare Disorders is a comprehensive and invaluable nesource that sheds new light on the molecular mechanisms influencing the clinical presentation and treatment strategies for these debilitating disorders.

Molecular Pathology
Author : William B. Coleman,Gregory J. Tsongalis
Publisher : Academic Press
Release Date : 2017-11-09
ISBN 10 : 0128027878
Pages : 802 pages
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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