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Overgrowth Syndromes
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Book Synopsis Overgrowth Syndromes by : Giovanni Neri
Download or read book Overgrowth Syndromes written by Giovanni Neri and published by Oxford University Press. This book was released on 2019-02-15 with total page 287 pages. Available in PDF, EPUB and Kindle. Book excerpt: Overgrowth Syndromes is a comprehensive clinical guide to the well-defined genetic disorders (and others that are less well-defined) for which somatic overgrowth is a major manifestation. It details the unique characteristics and known causative genes for this class of disorders, offering clinicians an expert resource for both clinical diagnosis and laboratory confirmation. Assembled by the world's leading experts on overgrowth, this volume maximizes clinical utility without sacrificing nuance or rigor. It codifies the last decade's sweeping advances in understanding general and segmental overgrowth, including the latter's mosaic nature and phenotypic variability. It is an essential resource for clinicians navigating this set of conditions from clinical presentation all the way to counseling and anticipatory management.
Book Synopsis Overgrowth Syndromes by : Meyer Michael Cohen
Download or read book Overgrowth Syndromes written by Meyer Michael Cohen and published by . This book was released on 2002 with total page 232 pages. Available in PDF, EPUB and Kindle. Book excerpt: Overgrowth Syndromes presents a broad yet in-depth discussion of children who are large at birth or experience excessive postnatal growth or some combination of increased weight, length, and head circumference. Many of these syndromes are associated with an increased frequency of tumors. The book is important because of the ever-increasing number of newly identified overgrowth syndromes and the rapid progression of molecular knowledge of these conditions. It covers: Beckwith Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, Sotos syndrome, Proteus syndrome, Bannayan-Riley-Ruvalcaba syndrome, Klippel-Trenaunay syndrome, neurofibromatosis, and fragile X syndrome, among other topics. Each chapter provides a historical perspective and deals with epidemiology, etiology, and molecular biology when known, clinical and pathological features, diagnostic criteria, and differential diagnosis. The book is encyclopedic in scope. It will be of value to pediatricians, medical geneticists, oncologists, hematologists, surgeons, pathologists, radiologists, dermatologists, nephrologists, and molecular biologists.
Book Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey
Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Book Synopsis Vascular Anomalies by : Cameron C. Trenor III
Download or read book Vascular Anomalies written by Cameron C. Trenor III and published by Springer Nature. This book was released on 2020-07-24 with total page 235 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume is a practical resource for the diagnosis and multi-disciplinary management of patients with vascular anomalies. Although designed by and for hematologists and oncologists, this text also assists clinicians in many specialties with appropriate nomenclature, diagnosis, and management of the heterogeneous disorders considered as vascular anomalies, including kaposiform hemangioendothelioma, capillary malformations, venous malformations, lymphatic anomalies, and arteriovenous malformation. The book features full-color clinical photographs and diagnostic imaging to enrich descriptions of these conditions and to ensure accurate diagnosis for appropriate management recommendations. Written by experts in their fields, Vascular Anomalies: A Guide for the Hematologist/Oncologist is a valuable resource for clinicians treating and researchers studying patients with vascular anomalies.
Book Synopsis Transporters in Drug Discovery and Development by : Yurong Lai
Download or read book Transporters in Drug Discovery and Development written by Yurong Lai and published by Woodhead Publishing. This book was released on 2014-08-22 with total page 759 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by a leading researcher in the field, Transporters in Drug Discovery and Development provides a comprehensive and practical guide to drug transporter families that are the most important for drug discovery and development. It covers: an overview of transporter families and organ distribution; clinical relevant drug-drug interaction; clinical relevant polymorphism; drug transporter related pharmacokinetic, pharmacodynamics and toxicity; in vitro/in vivo probes of drug transport studies; the practical methodologies of industrial transporter screening and translational aspect in drug discovery and developments. - A comprehensive overview of drug transporter families and their clinical relevance in drug discovery and development - Balanced coverage of molecular biology aspects and functional outcomes - State of art knowledge related to transporter-mediated DDI and the clinical relevance in pharmacokinetics, dynamics, and toxicity
Book Synopsis Genetic Steroid Disorders by : Maria I. New
Download or read book Genetic Steroid Disorders written by Maria I. New and published by Academic Press. This book was released on 2023-06-14 with total page 470 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Book Synopsis Epigenetics in Psychiatry by : Jacob Peedicayil
Download or read book Epigenetics in Psychiatry written by Jacob Peedicayil and published by Academic Press. This book was released on 2021-08-21 with total page 848 pages. Available in PDF, EPUB and Kindle. Book excerpt: Epigenetics in Psychiatry, Second Edition covers all major areas of psychiatry in which extensive epigenetic research has been performed, fully encompassing a diverse and maturing field, including drug addiction, bipolar disorder, epidemiology, cognitive disorders, and the uses of putative epigenetic-based psychotropic drugs. Uniquely, each chapter correlates epigenetics with relevant advances across genomics, transcriptomics, and proteomics. The book acts as a catalyst for further research in this growing area of psychiatry. This new edition has been fully revised to address recent advances in epigenetic understanding of psychiatric disorders, evoking data consortia (e.g., CommonMind, ATAC-seq), single cell analysis, and epigenome-wide association studies to empower new research. The book also examines epigenetic effects of the microbiome on psychiatric disorders, and the use of neuroimaging in studying the role of epigenetic mechanisms of gene expression. Ongoing advances in epigenetic therapy are explored in-depth. - Fully revised to discuss new areas of research across neuronal stem cells, cognitive disorders, and transgenerational epigenetics in psychiatric disease - Relates broad advances in psychiatric epigenetics to a modern understanding of the genome, transcriptome, and proteins - Catalyzes knowledge discovery in both basic epigenetic biology and epigenetic targets for drug discovery - Provides guidance in research methods and protocols, as well how to employ data from consortia, single cell analysis, and epigenome-wide association studies (EWAS) - Features chapter contributions from international leaders in the field
Book Synopsis Bone Dysplasias by : Jürgen W. Spranger
Download or read book Bone Dysplasias written by Jürgen W. Spranger and published by Oxford University Press, USA. This book was released on 2018 with total page 929 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs "Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.
Book Synopsis Preventive Management for Children with Genetic Conditions by : Golder Wilson
Download or read book Preventive Management for Children with Genetic Conditions written by Golder Wilson and published by Cambridge University Press. This book was released on 2006 with total page 588 pages. Available in PDF, EPUB and Kindle. Book excerpt: Provides health professionals with a structured approach to the preventive care of children with congenital disorders. Over 150 conditions ranging from cerebral palsy to Down syndrome are discussed. The large number of conditions covered and the added perspective of a developmental pediatrician (Dr Cooley) provides a valuable resource for carers and parents. For each disorder there is an introductory summary of key information, followed by more detailed listing of general pediatric and speciality concerns, all structured to provide an integrated approach to patient care. For 32 common disorders or disease categories, preventive management checklists are provided: these checklists provide an ongoing record for the child's medical complications and progress and they are designed to be copied and placed in the medical record. The text provides details of medical complications and preventive recommendations supported by key literature and web resources for parents and professionals.
Book Synopsis Handbook of Tumor Syndromes by : Dongyou Liu
Download or read book Handbook of Tumor Syndromes written by Dongyou Liu and published by CRC Press. This book was released on 2020-05-08 with total page 1446 pages. Available in PDF, EPUB and Kindle. Book excerpt: Tumors/cancers are characterized by uncontrolled growths of abnormal cells that extend beyond their usual boundaries and disrupt the normal functions of affected organs and systems. While about 75%–80% of tumors/cancers arise sporadically without a family connection, 20%–25% appear to be familial (including 10%–15% nonhereditary familial tumors [or familial tumors] and 5%–10% hereditary familial tumors [or hereditary tumors]). As nonhereditary and hereditary familial tumors often show both tumor-related and non-tumor-related (or syndromic) symptoms, they are referred to as tumor syndromes (or cancer susceptibility syndromes). In comparison with sporadic tumors/cancers, tumor syndromes (>300 described so far) tend to occur at a younger age, involve multiple organs and systems, produce multiple (often in a distinct spectrum) and bilateral lesions, form multiple hamartomatous, benign, or precursor lesions; locate in specific site(s), display unique syndromic features, and affect multiple members/generations of a family. This book provides state-of-art and authoritative coverage of nearly 100 tumor syndromes, with chapters presenting overviews of individual tumor syndromes in relation to their biology, epidemiology, pathogenesis, clinical features, diagnosis, treatment, and prognosis. Featuring contributions from oncologists, clinicians, and specialists, the book offers a reliable, comprehensive reference on tumor syndromes for scholars and students of medicine, dentistry, pharmacology, nursing, public health, and other biomedical disciplines. Key Features Reviews the biology, epidemiology, pathogenesis, and clinical features of tumor syndromes Contains up-to-date information on the diagnosis and treatment of tumor syndromes Includes expert coverage from leading oncologists and clinicians Related Titles J. R. McIntosh, Understanding Cancer: An Introduction to the Biology, Medicine, and Societal Implications of This Disease (ISBN 978-0-8153-4535-0) P. S. T. Shanmugam, Understanding Cancer Therapies (ISBN 978-1-1381-9815-9) J. M. Baehring and J. M. Piepmeier, eds., Brain Tumors: Practical Guide to Diagnosis and Treatment (ISBN 978-0-3673-9022-8) D. Liu, Tumors and Cancers: Endocrine Glands – Blood – Marrow – Lymph (ISBN 978-1-4987-2975-8) Dongyou Liu, PhD, has worked at several research and clinical laboratories in Australia and the United States for the past three decades, with a focus on molecular characterization of microbial pathogens and detection of human genetic disorders and tumors/cancers. He is the primary author of more than 50 original research and review articles in various peer-reviewed international journals, the contributor of 197 book chapters, and the editor of more than 10 books.
Book Synopsis Essentials of Pediatric Anesthesiology by : Alan David Kaye
Download or read book Essentials of Pediatric Anesthesiology written by Alan David Kaye and published by Cambridge University Press. This book was released on 2014-10-16 with total page 435 pages. Available in PDF, EPUB and Kindle. Book excerpt: Provides a clinically relevant and easy-to-read review of all key topics, written and edited by leading pediatric anesthesiology physicians.
Book Synopsis Case Files High-Risk Obstetrics by : Eugene C. Toy
Download or read book Case Files High-Risk Obstetrics written by Eugene C. Toy and published by McGraw Hill Professional. This book was released on 2010-11-26 with total page 528 pages. Available in PDF, EPUB and Kindle. Book excerpt: Real patients, real cases teach you high-risk obstetrics "This is an excellent handbook on high risk obstetrics. The ideal audience is medical students or residents in the field who like real life scenarios to accentuate their learning. It is best suited for those in a time crunch, and residents and students certainly qualify. 3 Stars."--Doody's Review Service Case Files: High-Risk Obstetrics uses fifty clinical cases to illustrate evidence-based practice in high-risk obstetrics patients. Each case includes open-ended questions, extended discussion, Practice Pearls, a “Controversy” discussion, comprehension questions, and references to the most current literature with a brief critique of each article. This unique learning system teaches you to be a better clinician by learning in the context of real patients and reinforcing the latest evidence-based medicine. Features Clear and easy-to-follow case-based format helps residents and fellows develop clinical thinking skills Based on current journal articles and landmark studies, with an accompanying brief critique "Practical Pearls" give evidence-based recommendations for patient management "Controversy" feature discusses current controversies and different views related to each case Multiple-choice comprehension questions accompany each case Original line drawings and clinical images Proven learning system improves exam scores
Book Synopsis Pharmacoepigenetics by : Ramón Cacabelos
Download or read book Pharmacoepigenetics written by Ramón Cacabelos and published by Academic Press. This book was released on 2019-06-04 with total page 986 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pharmacoepigenetics provides a comprehensive volume on the role of epigenetics and epigenomics in drug discovery and development, providing a detailed, but accessible, view of the field, from basic principles, to applications in disease therapeutics. Leading international researchers from across academia, clinical settings and the pharmaceutical industry discuss the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, and treatment, current epigenetic drugs, and the application of epigenetic procedures in drug development. Throughout the book, chapter authors offer a balanced and objective discussion of the future of pharmacoepigenetics and its crucial contribution to the growth of precision and personalized medicine. - Fully examines the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, treatment, current epigenetic drugs and the application of epigenetic procedures in drug development - Features chapter contributions from leading international researchers in academia, clinical settings and the pharmaceutical industry - Instructs researchers, students and clinicians on how to better interpret and employ pharmacoepigenetics in drug development, efficiency and safety - Provides a balanced and objective discussion of the future of pharmacoepigenetics and its crucial role in precision medicine
Book Synopsis Challenging Cases in Dermatology Volume 2 by : Mohammad Ali El-Darouti
Download or read book Challenging Cases in Dermatology Volume 2 written by Mohammad Ali El-Darouti and published by Springer Nature. This book was released on 2019-08-28 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book comprehensively covers a range of challenging cases in dermatology. It provides easy to follow guidance on how to successfully diagnose and treat a range of unusual diseases with a range of figures with informative legends and clinical data focused exercises to enable the reader to gain confidence and a deep understanding of why the diagnostic and treatment procedures taken in each case were chosen. Cases covered include follicular disorders, melanocytic diseases, vascular tumors, cutaneous lymphomas, and bullous diseases. This second volume of Challenging Cases in Dermatology systematically describes a range of unusual and rare clinical cases in dermatology. It is therefore a valuable resource for all trainee and practising dermatologists looking to further develop their knowledge and understanding of how to successfully diagnose and treat rare and challenging diseases.
Book Synopsis The Hereditary Basis of Childhood Cancer by : David Malkin
Download or read book The Hereditary Basis of Childhood Cancer written by David Malkin and published by Springer. This book was released on 2021-09-07 with total page 491 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume elaborates on the research and clinical implications of the hereditary and molecular basis of childhood cancers. The focus of the ‘disease-related’ chapters of the book is to integrate what is known about the molecular basis of that particular clinical entity (or group of related entities) with the clinical manifestations, to relate the relationship of the molecular oncologic pathways with relevant developmental or non-human species biology in order to better understand the complexity of these systems. The resulting clinical implications of understanding this biology are elaborated on. Chapters 13-16 discuss the broader psychosocial, ethical and genetic counseling issues that arise and that are so critical to translating the knowledge gained from advances in molecular genetics into the clinic. Chapter 12 in particular provides a unique perspective of the application of this knowledge in less-developed nations where ‘modern’ technologies may not be readily available, but where the clinical manifestations of these disorders are prevalent.
Book Synopsis Ultrasound of Fetal Syndromes by : Beryl R. Benacerraf
Download or read book Ultrasound of Fetal Syndromes written by Beryl R. Benacerraf and published by Elsevier Health Sciences. This book was released on 2008-01-01 with total page 673 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the only book of its kind in prenatal diagnosis that details the most common sonographically detectable fetal syndromes. It has an easy-to-follow approach of using lists and patterns of malformations to generate a differential diagnosis of the possible syndrome involved. The reader is then led to the more detailed description of each syndrome to determine the exact final diagnosis. The new edition incorporates 3D ultrasound throughout the book, as well as 20 syndromes not previously covered. Cross-references sonographic fetal malformations with various syndromes to use patterns of malformation to arrive at the correct diagnosis. Shows the specific features of each syndrome to help you determine how detectable the syndrome is or how likely the fetus is to have the syndrome. Offers up-to-date information on how to manage borderline sonographic findings. Helps you to not only identify what syndrome a given set of malformations is likely to represent, but also understand the clinical implications of that syndrome. Includes more than 500 new images, many of which are 3D ultrasound images. Covers 20 new syndromes, including Perlman Syndrome, Cerebro-Costo-Mandibular Syndrome, Van der Woude Syndrome, Septo-Optic Dysplasia, Saethre-Chotzen Syndrome, Congenital Adrenal Hyperplasia, Congenital High Airway Obstruction Syndrome (CHAOS), Cloacal Extrophy Sequence, Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Opitz Syndrome, and DiGeorge Syndrome. Takes full advantage of a new full color design to make reference even easier. Presents ultrasound video ciips as they would appear in practice on the bonus DVD.
Download or read book Network Pharmacology written by Shao Li and published by Springer Nature. This book was released on 2021-09-29 with total page 480 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book introduces “network pharmacology” as an emerging frontier subject of systematic drug research in the era of artificial intelligence and big data. Network Pharmacology is an original subject of fusion system biology, bioinformatics, network science and other related disciplines. It emphasizes on starting from the overall perspective of the system level and biological networks, the analysis of the laws of molecular association between drugs and their treatment objects, reveals the systematic pharmacological mechanisms of drugs, and guides the research and development of new drugs and clinical diagnosis and treatment. After it was proposed, network pharmacology has been paid attention by researchers, and it has been rapidly developed and widely used. In order to systematically reveal the biological basis of diagnosis and treatment in traditional Chinese medicine and modern medicine, we proposed a new concept of "network target" for the first time, which has become the core theory of "network pharmacology". The core principle of a network target is to construct a biological network that can be used to decipher complex diseases. The network is then used as the therapeutic target, to which multicomponent remedies are applied. This book mainly includes four parts: 1) The concept and theory of network pharmacology; 2) Common analysis methods, databases and software in network pharmacological research; 3) Typical cases of traditional Chinese medicine modernization and modern drug research based on network pharmacology; 4) Network pharmacology practice process based on drugs and diseases.
