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Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Maria I. New,Bert W. O'Malley,Oksana Lekarev,Alan Parsa,Gary D. Hammer,Tony T. Yuen,Mone Zaidi,Ahmed Khattab, MD
  • Publisher :Unknown
  • Release Date :2021-09-15
  • Total pages :425
  • ISBN : 0128214244
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Summary : Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on "Gonadotropins, Obesity and Bone" and new research on non-invasive prenatal diagnosis with cell-free DNA. Chapters are thoroughly updated covering steroid disorders, the genetic bases for the disorder and case presentations, This definitive reference belongs in every medical library! Presents a comprehensive, translational look at all aspects of genetic steroid disorders in one reference work Provides a common language for endocrinologists, geneticists, molecular pathologists, and genetic counselors to discuss and diagnose genetic steroid disorders Saves clinicians and researchers time in quickly accessing the very latest details on genetic tests and diagnoses as opposed to searching through thousands of journal articles. Highlights significant discoveries with clinical relevance, presenting insight into which medications to use based on the genetic makeup of a patient Teaches the best strategies and most effective use of genetic information in the patient counseling setting

Genetic Steroid Disorders

Genetic Steroid Disorders
  • Author : Maria I. New
  • Publisher :Unknown
  • Release Date :2013-08-22
  • Total pages :406
  • ISBN : 9780128072769
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Summary : This book demonstrates that each steroid disorder causing both clinical and biochemical abnormalities in patients now has a genetic basis. The genes for each step in steroidogenesis have been mapped and cloned, and the mutations in the gene causing the disorder have been described. In addition, the structural biology of the protein resulting from the mutation in the gene has been reported for many of the disorders.

Growth Disorders 2E

Growth Disorders 2E
  • Author : Chris Kelnar,Martin Savage,Paul Saenger,Chris Cowell
  • Publisher :Unknown
  • Release Date :2007-06-29
  • Total pages :704
  • ISBN : 9781444113730
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Summary : Linear growth is a biological process of fundamental importance to the physical and psychological make-up of a child and adolescent but which can be subject to a number of interruptions and disorders. The management and treatment of patients with growth disorders constitues a major, and important, part of practice in clinical paediatrics, while in public health terms growth assessment remains one of the most useful indices of health and economic well being in both developed and the developing world. This book approaches growth and its disorders from both a physiological and pathophysiological standpoint. The book outlines in detail the fundamental biological mechanisms of normal and abnormal linear growth, how to assess growth accurately fundamental to the early detection of abnormality and, importantly, how to manage disorders leading to short and tall stature, and disorders of the timing of puberty. Throughout, emphasis is given on achieving a satisfactory outcome for the child and parent by keeping them fully informed as to what is possible from a particular treatment strategy. The result is a wide-ranging and balanced account of this challenging field drawing on the expertise of a team of international specialists from a variety of backgrounds.

Growth Disorders 2E

Growth Disorders 2E
  • Author : Chris Kelnar,Martin Savage,Paul Saenger,Chris Cowell
  • Publisher :Unknown
  • Release Date :2007-06-29
  • Total pages :704
  • ISBN : 9780340812402
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Summary : Linear growth is a biological process of fundamental importance to the physical and psychological make-up of a child and adolescent but which can be subject to a number of interruptions and disorders. The management and treatment of patients with growth disorders constitues a major, and important, part of practice in clinical paediatrics, while in public health terms growth assessment remains one of the most useful indices of health and economic well being in both developed and the developing world. This book approaches growth and its disorders from both a physiological and pathophysiological standpoint. The book outlines in detail the fundamental biological mechanisms of normal and abnormal linear growth, how to assess growth accurately fundamental to the early detection of abnormality and, importantly, how to manage disorders leading to short and tall stature, and disorders of the timing of puberty. Throughout, emphasis is given on achieving a satisfactory outcome for the child and parent by keeping them fully informed as to what is possible from a particular treatment strategy. The result is a wide-ranging and balanced account of this challenging field drawing on the expertise of a team of international specialists from a variety of backgrounds.

25 Years of p53 Research

25 Years of p53 Research
  • Author : Pierre Hainaut,Klas G. Wiman
  • Publisher :Unknown
  • Release Date :2007-10-26
  • Total pages :446
  • ISBN : 1402065647
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Summary : p53 has emerged as a key tumor suppressor and important target for novel cancer therapy. This book, written by world-leading p53 researchers including many of those who have shaped the field over the past 25 years, provides unique insights into the progress of the field and the prospects for better cancer diagnosis and therapy in the future.

How Genes Influence Behavior 2e

How Genes Influence Behavior 2e
  • Author : Jonathan Flint,Ralph J. Greenspan,Kenneth S. Kendler
  • Publisher :Unknown
  • Release Date :2020-01-23
  • Total pages :392
  • ISBN : 9780198716877
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Summary : How Genes Influence Behavior takes a personal and lively approach to the study of behavioral genetics, providing an up-to-date and accessible introduction to a variety of approaches and their application to a wide range of disorders, and modeling a critical approach to both methods andresults.This second edition includes additional biology content to help students understand the biological foundations of the field, while maintaining an appropriate focus on the main issues of relevance to psychology students; updates coverage of genomic technologies and their applications; and covers awider range of disorders, including autism spectrum disorder, eating disorders, and intellectual disability. A new final chapter guides students through a range of quantitative approaches using worked examples that relate directly to cases and examples used earlier in the text, and addresses currentissues arising from debates around reproducibility.The online resources that accompany this book include:For students* Multiple choice questions for students to check their threshold knowledge* Data sets for students to manipulate, so that they can apply what they have learnedFor lecturers* Figures and tables from the book, ready to download

Basic Genetics

Basic Genetics
  • Author : Ahmed Abouelmagd,Hussein M. Ageely
  • Publisher :Unknown
  • Release Date :2013-04
  • Total pages :288
  • ISBN : 9781612331928
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Summary : Basic Genetics is a concise introductory textbook that focuses not only on understanding and explaining the main points of genetics, but also upon covering the required essential traditional subjects in the field. The main goal of this textbook is to help first year students who are taking their first course in human genetics to understand the different topics within genetics. It is of particular interest for those who are preparing themselves to study medicine or other medical sciences. This textbook presents only the essential required information. Some of the different subjects included in the eight chapters are: cell cycle and cellular division, Mendelian principles of heredity, the molecular basis of genetic material, gene expression and gene expression control, genetic variations and genetic engineering, as well as human genetics. In addition, Basic Genetics contains multiple choice questions covering each topic and their answers. These questions are absolutely essential for students' self- assessment. These different topics of basic genetics have also been illustrated by simple diagrams in full color.

Role of Protein-Protein Interactions in Metabolism: Genetics, Structure, Function, 2nd Edition

Role of Protein-Protein Interactions in Metabolism: Genetics, Structure, Function, 2nd Edition
  • Author : Amit V. Pandey,Colin J. Henderson,Yuji Ishii,Michel Kranendonk,Wayne L. Backes,Ulrich M. Zanger
  • Publisher :Unknown
  • Release Date :2018-06-20
  • Total pages :229
  • ISBN : 9782889454914
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Summary : Genetic variations may change the structure and function of individual proteins as well as affect their interactions with other proteins and thereby impact metabolic processes dependent on protein-protein interactions. For example, cytochrome P450 proteins, which metabolize a vast array of drugs, steroids and other xenobiotics, are dependent on interactions with redox and allosteric partner proteins for their localization, stability, (catalytic) function and metabolic diversity (reactions). Genetic variations may impact such interactions by changing the splicing and/or amino acid sequence which in turn may impact protein topology, localization, post translational modifications and three dimensional structure. More generally, research on single gene defects and their role in disease, as well as recent large scale sequencing studies suggest that a large number of genetic variations may contribute to disease not only by affecting gene function or expression but also by modulating complex protein interaction networks. The aim of this research topic is to bring together researchers working in the area of drug, steroid and xenobiotic metabolism who are studying protein-protein interactions, to describe their recent advances in the field. We are aiming for a comprehensive analysis of the subject from different approaches including genetics, proteomics, transcriptomics, structural biology, biochemistry and pharmacology. Of particular interest are papers dealing with translational research describing the role of novel genetic variations altering protein-protein interaction. Authors may submit original articles, reviews and opinion or hypothesis papers dealing with the role of protein-protein interactions in health and disease. Potential topics include, but are not limited to: • Role of protein-protein interactions in xenobiotic metabolism by cytochrome P450s and other drug metabolism enzymes. • Role of classical and novel interaction partners for cytochrome P450-dependent metabolism which may include interactions with redox partners, interactions with other P450 enzymes to form P450 dimers/multimers, P450-UGT interactions and proteins involved in posttranslational modification of P450s. • Effect of genetic variations (mutations and polymorphisms) on metabolism affected by protein-protein interactions. • Structural implications of mutations and polymorphisms on protein-protein interactions. • Functional characterization of protein-protein interactions. • Analysis of protein-protein interaction networks in health and disease. • Regulatory mechanisms governing metabolic processes based on protein-protein interactions. • Experimental approaches for identification of new protein-protein interactions including changes caused by mutations and polymorphisms.

Hormone/Behavior Relations of Clinical Importance

Hormone/Behavior Relations of Clinical Importance
  • Author : Robert H. Rubin,Donald W. Pfaff
  • Publisher :Unknown
  • Release Date :2010-03-16
  • Total pages :1182
  • ISBN : 0080958001
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Summary : A single volume of 41 articles, Hormone/Behavior Relations of Clinical Importance is an authoritative selection of relevant chapters from the Hormones Brain and Behavior 2e MRW, the most comprehensive source of neuroendocrinological information assembled to date (AP July 2009). The study of hormones as they impact the brain and, subsequently, behavior is a central topic in neuroscience, endocrinology and psychiatry. This volume offers an overview of neuroendocrinological topics, approaching the subject from the perspective of hormone-brain function, hormone-behavior relations, sex differences, and the impact on various diseases/pathologies. Many basic human behavioral functions are subject to the influence of hormones - sexual orientation, the experience of pain, fertility, immunity - as are clinical conditions such as diabetes, substance abuse disorder, eating disorders, PTSD, TBI, pain, Alzheimer's, stress/anxiety, affective disorders, and more. There is considerable commercial clinical potential in the study of hormones - drug companies are currently developing a Cholecystokinin (hormonal peptide) booster to reduce appetite in those who suffer from sever obesity, and catamenial epilepsy (features seizure exacerbation in relation to the menstrual cycle) is resistant to treatment by standard antiepileptic medications, but may be hormonally controlled. These issues and more are covered, and there is simply no other current single-volume reference with such comprehensive coverage and depth. Authors selected are the internationally renowned experts for the particular topics on which they write, and the volume is richly illustrated with over 150 figures (50 in color). A collection of articles reviewing our fundamental knowledge of neuroendocrinology, the book provides an essential, affordable reference for researchers, clinicians and graduate students in the area. - Offering outstanding scholarship, each chapter is written by an expert in the topic area and approximately 25% of chapters are written by international contributors (7 countries represented) - Provides more fully vetted expert knowledge than any existing work with broad appeal for the US, UK and Europe, accurately crediting the contributions to research in those regions - Heavily illustrated with 150 figures, approximately 50 in color, presenting the material in the most visually useful form for the reader - Fully explores various clinical conditions associated with the hormones and the brain (PTSD, TBI, Stress & Anxiety, eating disorders, diabetes, addictive disorders, Alzheimer's, affective disorders) - Broad coverage of disorders makes the volume relevant to clinicians as well as researchers and basic scientists

Vitamin D

Vitamin D
  • Author : David Feldman,J. Wesley Pike,Francis H. Glorieux
  • Publisher :Unknown
  • Release Date :2005-01-25
  • Total pages :1952
  • ISBN : 0080543642
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Summary : Vitamin D, a steroid hormone, has mainly been known for its effects on bone and osteoporosis. The current therapeutic practices expand into such markets as cancer research, pediatrics, nephrology, dermatology, immunology, and genetics. This second edition includes over 100 chapters covering everything from chemistry and metabolism to mechanisms of action, diagnosis and management, new analogs, and emerging therapies. This complete reference works is a must have resource for anyone working in endocrinology, osteology, bone biology, or cancer research. *Most comprehensive, up-to-date two-volume set on Vitamin D *New chapters on squamous cell cancer, brain cancer, thyroid cancer and many more *Further sections on emerging uses for treatments of auto-immune diseases and diabetes *Over 600 illustrations and figures available on CD

Cell and Molecular Biology of Plastids

Cell and Molecular Biology of Plastids
  • Author : Ralph Bock
  • Publisher :Unknown
  • Release Date :2007-09-19
  • Total pages :524
  • ISBN : 9783540753766
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Summary : The present book provides a comprehensive overview of our current knowledge on plastid biogenesis, plastid-nuclear communication, and the regulation of plastid gene expression at all levels. It also assesses the state-of-the-art in key technologies, such as proteomics and chloroplast transformation. Written by recognized experts in the field, the book further covers crucial post-translational processes in plastid biogenesis and function, including protein processing.

Peripheral Nerve Disorders

Peripheral Nerve Disorders
  • Author : Davide Pareyson,Chiara Marchesi,Ettore Salsano
  • Publisher :Unknown
  • Release Date :2013-08-17
  • Total pages :1008
  • ISBN : 9780128078785
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Summary : Charcot–Marie–Tooth neuropathy (CMT) is a group of genetically heterogeneous disorders sharing a similar phenotype, characterized by wasting and weakness mainly involving the distal muscles of lower and upper limbs, variably associated with distal sensory loss and skeletal deformities. This chapter deals with dominantly transmitted CMT and related disorders, namely hereditary neuropathy with liability to pressure palsies (HNPP) and hereditary neuralgic amyotrophy (HNA). During the last 20 years, several genes have been uncovered associated with CMT and our understanding of the underlying molecular mechanisms has greatly improved. Consequently, a precise genetic diagnosis is now possible in the majority of cases, thus allowing proper genetic counseling. Although, unfortunately, treatment is still unavailable for all types of CMT, several cellular and animal models have been developed and some compounds have proved effective in these models. The first trials with ascorbic acid in CMT type 1A have been completed and, although negative, are providing relevant information on disease course and on how to prepare for future trials.

Environmental and Health Risk Assessment and Management

Environmental and Health Risk Assessment and Management
  • Author : Paolo Ricci
  • Publisher :Unknown
  • Release Date :2005-11-07
  • Total pages :480
  • ISBN : 1402037759
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Summary : This book is about the legal, economical, and practical assessment and management of risky activities arising from routine, catastrophic environmental and occupational exposures to hazardous agents. It includes a discussion of aspects of US and European Union law concerning risky activities, and then develops the economic analyses that are relevant to implementing choices within a supply and demand framework. The book also discusses exposure-response and time-series models used in assessing air and water pollution, as well as probabilistic cancer models, including toxicological compartmental, pharmaco-kinetic models and epidemiological relative risks and odds ratios-based models. Statistical methods to measure agreement, correlation and discordance are also developed. The methods and criteria of decision-analysis, including several measures of value of information (VOI) conclude the expositions. This book is an excellent text for students studying risk assessment and management.

Dry Skin and Moisturizers

Dry Skin and Moisturizers
  • Author : Marie Loden,Howard I. Maibach
  • Publisher :Unknown
  • Release Date :1999-12-06
  • Total pages :472
  • ISBN : 0849375207
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Summary : Dry Skin and Moisturizers: Chemistry and Function presents new information relating to skin biochemistry and pathological changes seen in various dry skin disorders. The book examines the pharmacology of ingredients in moisturizing preparations, providing a broad overview of formulations as well as detailed information on ingredients. Featuring contributions from leading researchers from around the world, the book also outlines general principles for testing and evaluation of effects on the skin, with particular emphasis on safety assessment. This comprehensive book is divided into five parts. Part I, Dry Skin and Moisturizers, offers an introduction to this fascinating topic, while Part II, Biochemistry and Function of the Skin, explores everything from particle probes and skin physiology to the distribution and function of physiological elements in skin. Part III focuses on dry skin and hyperkeratotic conditions. Physico-chemical considerations, emulsifiers, hydrophilic pastes, lanolins, and other topics are addressed in Part IV, Formulations and Interactions with the Skin; while safety assessments, human in vivo skin irritancy testing, sensitive skin, and more are examined in Part V, Evaluation and Safety.

Biology 2e

Biology 2e
  • Author : Mary Ann Clark,Jung Ho Choi,Matthew Douglas
  • Publisher :Unknown
  • Release Date :2018
  • Total pages :1567
  • ISBN : OCLC:1044735448
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Summary : Biology 2e (2nd edition) is designed to cover the scope and sequence requirements of a typical two-semester biology course for science majors. The text provides comprehensive coverage of foundational research and core biology concepts through an evolutionary lens. Biology includes rich features that engage students in scientific inquiry, highlight careers in the biological sciences, and offer everyday applications. The book also includes various types of practice and homework questions that help students understand -- and apply -- key concepts. The 2nd edition has been revised to incorporate clearer, more current, and more dynamic explanations, while maintaining the same organization as the first edition. Art and illustrations have been substantially improved, and the textbook features additional assessments and related resources.

Genetic Neuromuscular Disorders

Genetic Neuromuscular Disorders
  • Author : Corrado Angelini
  • Publisher :Unknown
  • Release Date :2017-10-05
  • Total pages :433
  • ISBN : 9783319564548
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Summary : This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. This collection of neuromuscular disorders features the differential clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.

Dental Perspectives on Human Evolution

Dental Perspectives on Human Evolution
  • Author : Shara E. Bailey,Jean-Jacques Hublin
  • Publisher :Unknown
  • Release Date :2007-08-20
  • Total pages :412
  • ISBN : 9781402058448
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Summary : The objective of the volume is to bring together, in one collection, the most innovative dental anthropological research as it pertains to the study of hominid evolution. In the past few decades both the numbers of hominid dental fossils and the sophistication of the techniques used to analyze them have increased substantially. The book’s contributions focus on dental morphometrics, growth and development, diet and dental evolution.

A Century of Ideas

A Century of Ideas
  • Author : B. G. Sidharth
  • Publisher :Unknown
  • Release Date :2008-04-05
  • Total pages :207
  • ISBN : 1402043600
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Summary : Shortly after its inauguration in 1985 the Birla Science Centre, Hyderabad, India, started a series of lectures by Nobel Laureates and other scientists of international renown, mostly on Physics and Astronomy. The present collection mostly consists of lectures on frontier topics. The transcript of each lecture is preceded by a short biography of the Nobel Laureate/Scientist in question. The lectures are aimed at a wide non-specialist but higher educated audience.

The American Psychiatric Association Practice Guideline for the Treatment of Patients with Schizophrenia, Third Edition

The American Psychiatric Association Practice Guideline for the Treatment of Patients with Schizophrenia, Third Edition
  • Author : American Psychiatric Association
  • Publisher :Unknown
  • Release Date :2020-09-04
  • Total pages :336
  • ISBN : 9780890424698
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Summary : "The goal of this practice guideline is to improve the quality of care and treatment outcomes for patients with schizophrenia. The guideline aims to help clinicians optimize care for their patients by providing evidence-based statements that are intended to enhance knowledge and increase the appropriate use of evidence-based pharmacological and nonpharmacological treatments for schizophrenia. In addition, it includes statements related to assessment and treatment planning, which are an integral part of patient-centered care"--

Peripheral Nerve Disorders

Peripheral Nerve Disorders
  • Author : Jean-Michel Vallat,Joachim Weiss
  • Publisher :Unknown
  • Release Date :2014-08-01
  • Total pages :320
  • ISBN : 9781118618417
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Summary : Peripheral Nerve Disorders: Pathology and Genetics is a definitive, clinically-oriented guide to the pathology of peripheral nerve disorders. These commonly seen neurological challenges have many causes and accurate diagnosis is often necessary via pathological analysis. New techniques exploiting molecular biological knowledge have opened up new vistas to understanding the pathogenesis of these disorders, and hence their effective management. This new title takes a disease-oriented approach to understanding the pathology of these conditions. It combines classical and contemporary techniques to enable practitioners in neurology and neuropathology to better understanding of the disease processes underlying patients’ presentations and to formulate appropriate management plans. Peripheral Nerve Disorders: Pathology and Genetics is a valuable resource for neurologists, neuropathologists, pathologists, neurobiologists and geneticists.

Textbook of Nephro-Endocrinology

Textbook of Nephro-Endocrinology
  • Author : Ajay K. Singh,Gordon H. Williams
  • Publisher :Unknown
  • Release Date :2009-01-12
  • Total pages :522
  • ISBN : 0080920462
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Summary : The Textbook of Nephro-Endocrinology is the definitive translational reference in the field of nephro-endocrinology, investigating both the endocrine functions of the kidneys and how the kidney acts as a target for hormones from other organ systems. It offers researchers and clinicians expert, gold-standard analyses of nephro-endocrine research and translation into the treatment of diseases such as anemia, chronic kidney disease (CKD), rickets, osteoporosis, and, hypoparathyroidism. Investigates both the endocrine functions of the kidneys and how the kidney acts as a target for hormones from other organ systems Presents a uniquely comprehensive and cross-disciplinary look at all aspects of nephro-endocrine disorders in one reference work Clear translational presentations by the top endocrinologists and nephrologists in each specific hormone or functional/systems field