Read Books Online and Download eBooks, EPub, PDF, Mobi, Kindle, Text Full Free.
Download Restricted Growth Aeur Clinical Genetic And Molecular Aspects full books in PDF, epub, and Kindle. Read online Restricted Growth Aeur Clinical Genetic And Molecular Aspects ebook anywhere anytime directly on your device. Fast Download speed and no annoying ads. We cannot guarantee that every ebooks is available!
Author :
Publisher :
ISBN 13 : 9789535126959
Total Pages : pages
Book Rating : 4.1/5 (269 download)
Download or read book Restricted Growth €“ Clinical, Genetic and Molecular Aspects written by and published by . This book was released on 19?? with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Maria del Carmen Cardenas-Aguayo
Publisher : BoD – Books on Demand
ISBN 13 : 9535126946
Total Pages : 176 pages
Book Rating : 4.5/5 (351 download)
Download or read book Restricted Growth written by Maria del Carmen Cardenas-Aguayo and published by BoD – Books on Demand. This book was released on 2016-10-12 with total page 176 pages. Available in PDF, EPUB and Kindle. Book excerpt: Restricted growth conditions are a group of genetic disorders with primary effect on growth (short stature); it is very heterogeneous and comprises two important categories: skeletal dysplasia and different genetic syndromes with primary effect on growth. It could also be caused by a medical condition. The book contains chapters regarding different aspects of the study of restricted growth that are divided into three broad sections. Section I: Defining Restricted Growth, Section II: Genetics and Diagnosis of Restricted Growth, and Section III: Signaling Pathways and Molecular Mechanisms of Restricted Growth. The book presents comprehensive reviews of each topic written by experts in the field. It will be the most valuable tool for physicians and life science researchers and students. We hope that the book will motivate discussion and research in this important health problem, setting the path for better therapeutic approaches.
Author : John C. Carey
Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.1/5 (194 download)
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.
Author : Giuseppe Limongelli
Publisher : Elsevier Health Sciences
ISBN 13 : 0323610471
Total Pages : pages
Book Rating : 4.3/5 (236 download)
Download or read book Clinical and Molecular Aspects of Cardiomyopathies: On the road from gene to therapy, An Issue of Heart Failure Clinics, E-Book written by Giuseppe Limongelli and published by Elsevier Health Sciences. This book was released on 2018-04-02 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: This issue of Heart Failure Clinics--edited by Drs. Giuseppe Limongelli, Sharlene Day, and Perry Elliott--will cover Clinical and Molecular Aspects of Cardiomyopathies: On the Road from Gene to Therapy. Topics include, but are not limited to, Epidemiology and Clinical aspects of Genetic Cardiomyopathies, Existing and New therapies, Gene editing and gene-based therapeutics, Controversies surrounding exercise in genetic cardiomyopathies, Genetic infiltrative cardiomyopathies, LV Noncompaction, Clinical presentation and natural history of hypertrophic cardiomyopathy in Rasopathies, and Moelcular basis and new treatments of cardiac diseases in Rasopathies.
Author : Suzanne B. Cassidy
Publisher : John Wiley & Sons
ISBN 13 : 1118210670
Total Pages : 1678 pages
Book Rating : 4.1/5 (182 download)
Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : H.F. Baars
Publisher : Springer Science & Business Media
ISBN 13 : 1849964718
Total Pages : 453 pages
Book Rating : 4.8/5 (499 download)
Download or read book Clinical Cardiogenetics written by H.F. Baars and published by Springer Science & Business Media. This book was released on 2010-12-25 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic. The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a practical manner. The authors will cover the principles of molecular genetics in general but also specific to cardiac diseases. They will discuss the etiology, pathogenesis, pathophysiology, clinical presentation, clinical diagnosis, molecular diagnosis and treatment of each cardiogenetic disease separately. Therapy advice, ICD indications, indications for and manner of further family investigation will all be covered, while each chapter will also contain take-home messages to reinforce the key points. The chapters reviewing the different diseases will each contain a table describing the genes involved in each. Each chapter will also contain specific illustrations, cumulatively giving a complete, practical review of each cardiogenetic disease separately. Special emphasis will be given to advice on how to diagnose and manage cardiogenetic diseases in clinical practice, which genes should be investigated and why, and the pros and cons of genetic testing. Guidelines for investigation in families with sudden cardiac death at young age will also be included. This book will be written for the general cardiologist and the clinical geneticist who is involved in cardiac patients and will provide answers to question such as: Which genes are involved and which mutations? What is the effect of the mutation at cellular level? Which genes should be tested and why? What is the value of a molecular diagnosis? Does it influence therapy? When should the first degree relatives be tested and in which way?
Author : Charles R. Scriver
Publisher : New York ; Montreal : McGraw-Hill
ISBN 13 : 9780071363198
Total Pages : 6338 pages
Book Rating : 4.3/5 (631 download)
Download or read book The Metabolic & Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Author : Merlin Butler
Publisher : Springer Science & Business Media
ISBN 13 : 0387335366
Total Pages : 569 pages
Book Rating : 4.3/5 (873 download)
Download or read book Management of Prader-Willi Syndrome written by Merlin Butler and published by Springer Science & Business Media. This book was released on 2006-10-11 with total page 569 pages. Available in PDF, EPUB and Kindle. Book excerpt: Management of Prader-Willi Syndrome brings together the contributions of professionals with considerable expertise in diagnosis and management of PWS. Clinical, social, family, and community issues are explored and management strategies identified. The text presents historical, medical, and genetic information to orient the reader. The major portion deals with pragmatic guidelines, rather than research and diagnosis, and is directed to health and educational specialists in academic, clinical, and community settings. This manual is endorsed by The Prader-Willi Syndrome Association, which is recognized world-wide.
Author : K. Tada
Publisher : Springer Science & Business Media
ISBN 13 : 3662031477
Total Pages : 421 pages
Book Rating : 4.6/5 (62 download)
Download or read book Inborn Metabolic Diseases written by K. Tada and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.
Author : Roger E. Stevenson
Publisher : Oxford University Press
ISBN 13 : 0199811792
Total Pages : 363 pages
Book Rating : 4.1/5 (998 download)
Download or read book Atlas of X-Linked Intellectual Disability Syndromes written by Roger E. Stevenson and published by Oxford University Press. This book was released on 2012-07-12 with total page 363 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Atlas of Intellectual Disability Syndromes presents a concise description of 150 clinically distinctive syndromes caused by genes on the X chromosome. Each entry includes photographs and a differential matrix of similar syndromes. Appendices identify syndromes with common features and provide the location or mapping limits and function of responsible genes.
Author : Liang Cheng
Publisher : Springer
ISBN 13 : 9781461447993
Total Pages : 1136 pages
Book Rating : 4.4/5 (479 download)
Download or read book Molecular Genetic Pathology written by Liang Cheng and published by Springer. This book was released on 2013-03-05 with total page 1136 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular Genetic Pathology, Second Edition presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology. Fully updated in each area and expanded to include identification of new infectious agents (H1N1), new diagnostic biomarkers and biomarkers for targeted cancer therapy. This edition is also expanded to include the many new technologies that have become available in the past few years such as microarray (AmpliChip) and high throughput deep sequencing, which will certainly change the clinical practice of molecular genetic pathology. Part I examines the clinical aspects of molecular biology and technology, genomics. Poharmacogenomics and proteomics, while Part II covers the clinically relevant information of medical genetics, hematology, transfusion medicine, oncology, and forensic pathology. Supplemented with many useful figures and presented in a helpful bullet-point format, Molecular Genetic Pathology, Second Edition provides a unique reference for practicing pathologists, oncologists, internists, and medical genetisists. Furthermore, a book with concise overview of the field and highlights of clinical applications will certainly help those trainees, including pathology residents, genetics residents, molecular pathology fellows, internists, hematology/oncology fellows, and medical technologists in preparing for their board examination/certification.
Author : Donna M. McDonald-McGinn
Publisher : Academic Press
ISBN 13 : 0128160489
Total Pages : 526 pages
Book Rating : 4.1/5 (281 download)
Download or read book The Chromosome 22q11.2 Deletion Syndrome written by Donna M. McDonald-McGinn and published by Academic Press. This book was released on 2022-08-19 with total page 526 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology, prognosis, and recurrence risk associated with the chromosome 22q11.2 deletion syndrome. Leading international contributors cover the background, genetics, testing methods, and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in every applicable subspecialty, such as, cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology, neurology, and psychiatry, among other fields. This book presents an authoritative resource with full color images that enhance concept illustration and aid in real-time decision-making. As 22q11.2 deletion syndrome has become a model for understanding rare and frequent anomalies, numerous medical issues, cognitive and behavioral phenotypes, and later onset conditions, this text will become the go to resource for clinicians, researchers, trainees, and motivated family members, in gaining a full understanding of this complex chromosomal disorder. Provides a complete description of 22q11.2 deletion syndrome for healthcare professionals, researchers, trainees, and families affected by this common condition Presents diagnostic and treatment strategies to help tackle this complex and often undiagnosed and therefore undertreated condition Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest clinical experience and research in the field Features leading international contributors in numerous sub-specialties, representing the multisystem nature of this condition Includes full color figures, flow charts, tables, and patient images to guide real-time decision-making
Author : Aubrey Milunsky
Publisher : John Wiley & Sons
ISBN 13 : 1119676932
Total Pages : 1394 pages
Book Rating : 4.1/5 (196 download)
Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by John Wiley & Sons. This book was released on 2021-07-06 with total page 1394 pages. Available in PDF, EPUB and Kindle. Book excerpt: Explore the latest edition of the definitive resource on prenatal genetic diagnosis In the newly revised eighth edition of Genetic Disorders and the Fetus, authors and acclaimed medical doctors, Aubrey and Jeff Milunsky, deliver a thorough and comprehensive reference perfect for academicians, students in post-graduate specialization courses, and working medical professionals. This book incorporates the knowledge, wisdom, perspectives, and recommendations from a renowned team of contributing authors, drawing upon their extensive experience in prenatal genetic diagnosis to present the definitive reference work used routinely around the world. In addition to fundamental information on established prenatal diagnosis and exhaustively referenced coverage of new techniques, you’ll find new chapters on preconception genetic counselling, preimplantation genetic diagnosis, advances in fetal imaging, and gene therapy. Genetic Disorders and the Fetus is authored by a global team of internationally recognized contributors, all of whom are leading voices in the field The eighth edition also contains: A thorough discussion of the public policy and ethics of embryo editing, including mitochondrial replacement treatment, and gene patents, prenatal diagnosis, and polygenic disease risk prediction An exploration of preimplantation genetic diagnosis, pharmacogenetics and prenatal diagnosis, and whole genome sequencing A treatment of genetic disorders and pharmacologic therapy, including spinal muscular atrophy and fragile X syndrome A discussion of legal issues, including the fetus as plaintiff and the increasing liability of physicians due to advances in genetics Perfect for obstetricians, clinical geneticists, molecular and biochemical geneticists, and pediatricians, Genetic Disorders and the Fetus will also earn a place in the libraries of neonatologists, genetics counsellors, ethicists, radiologists, and professionals working in public policy and health departments.
Author : Ken Ho
Publisher : Springer Science & Business Media
ISBN 13 : 1607613174
Total Pages : 413 pages
Book Rating : 4.6/5 (76 download)
Download or read book Growth Hormone Related Diseases and Therapy written by Ken Ho and published by Springer Science & Business Media. This book was released on 2011-08-12 with total page 413 pages. Available in PDF, EPUB and Kindle. Book excerpt: The molecular era ushered in the cloning of the growth hormone (GH) gene and the production of unlimited amounts of GH through recombinant technology. The continuing momentum of research from basic science to clinical evaluation has brought unprecedented advances to the understanding of GH biology for the clinical endocrinologist. Growth Hormone Related Diseases and Therapy: A Molecular and Physiological Perspective for the Clinician distills all the new information of relevance to the endocrinologist over the last 20 years by offering five sections: physiology, molecular genetics, GH deficiency, acromegaly and pharmacotherapy. The first section on physiology focuses on GH action. A review on the structure and function of the GH receptor is followed by a perspective on the regulatory role of ghrelin on GH secretion. The second section on genetics covers pituitary function and adenomas, including new and fascinating information on familial pituitary adenomas, their genotype and phenotype. The adult GH deficiency section spans the epidemiology and diagnosis of GH deficiency with a strong reminder for the clinician that the transition period represents a critical time of somatic maturation, which continues for years after cessation of liner growth. The section on acromegaly focuses on management, giving practical guides to the value of GH and IGF-1 measurements, the place of somatostatin analogues and of radiotherapy while reminding the reader as to why evaluating quality of life is an important part of management. Finally, the section on GH pharmacology takes the reader through innovative developments of long-acting GH formulations with some products on the threshold of clinical use. This section provides a balanced evidence based review of the effects of GH supplementation in aging and in sports where recent data indicates an enhancing effect on a selective aspect of performance. Growth Hormone Related Diseases and Therapy: A Molecular and Physiological Perspective for the Clinician integrates a wealth of information and will prove an invaluable reference for pediatric endocrinologists, adult endocrinologists, endocrine scientists and internists interested in the human biology of GH.
Author : Asma Khalil
Publisher : Springer Nature
ISBN 13 : 3030476529
Total Pages : 439 pages
Book Rating : 4.0/5 (34 download)
Download or read book Twin and Higher-order Pregnancies written by Asma Khalil and published by Springer Nature. This book was released on 2021-12-02 with total page 439 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive update on the management of multiple pregnancy, which is becoming more common, and is associated with increased maternal and perinatal mortality and morbidity. Offering a practical guide and a wealth of videos, images and illustrations, the book will help clinicians to feel more confident when caring for women with multiple pregnancy. Its main objectives are: To increase the level of knowledge of healthcare professionals involved in the care of these women; To update their knowledge in keeping with the recommendations of the latest national and international guidelines; and To promote a multidisciplinary approach to the management of women with multiple pregnancy.
Author : Roger N. Rosenberg
Publisher : Academic Press
ISBN 13 : 0128139560
Total Pages : 1013 pages
Book Rating : 4.1/5 (281 download)
Download or read book Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease written by Roger N. Rosenberg and published by Academic Press. This book was released on 2020-06-24 with total page 1013 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Sixth Edition: Volume One, provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to 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. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Provides a detailed introduction on both the clinical and basic research implications of molecular and genetics surrounding the brain Includes new chapters on molecular genomics, CRISPR and the most recent updates in molecular genetics
Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309068371
Total Pages : 312 pages
Book Rating : 4.3/5 (9 download)
Download or read book To Err Is Human written by Institute of Medicine and published by National Academies Press. This book was released on 2000-03-01 with total page 312 pages. Available in PDF, EPUB and Kindle. Book excerpt: Experts estimate that as many as 98,000 people die in any given year from medical errors that occur in hospitals. That's more than die from motor vehicle accidents, breast cancer, or AIDSâ€"three causes that receive far more public attention. Indeed, more people die annually from medication errors than from workplace injuries. Add the financial cost to the human tragedy, and medical error easily rises to the top ranks of urgent, widespread public problems. To Err Is Human breaks the silence that has surrounded medical errors and their consequenceâ€"but not by pointing fingers at caring health care professionals who make honest mistakes. After all, to err is human. Instead, this book sets forth a national agendaâ€"with state and local implicationsâ€"for reducing medical errors and improving patient safety through the design of a safer health system. This volume reveals the often startling statistics of medical error and the disparity between the incidence of error and public perception of it, given many patients' expectations that the medical profession always performs perfectly. A careful examination is made of how the surrounding forces of legislation, regulation, and market activity influence the quality of care provided by health care organizations and then looks at their handling of medical mistakes. Using a detailed case study, the book reviews the current understanding of why these mistakes happen. A key theme is that legitimate liability concerns discourage reporting of errorsâ€"which begs the question, "How can we learn from our mistakes?" Balancing regulatory versus market-based initiatives and public versus private efforts, the Institute of Medicine presents wide-ranging recommendations for improving patient safety, in the areas of leadership, improved data collection and analysis, and development of effective systems at the level of direct patient care. To Err Is Human asserts that the problem is not bad people in health careâ€"it is that good people are working in bad systems that need to be made safer. Comprehensive and straightforward, this book offers a clear prescription for raising the level of patient safety in American health care. It also explains how patients themselves can influence the quality of care that they receive once they check into the hospital. This book will be vitally important to federal, state, and local health policy makers and regulators, health professional licensing officials, hospital administrators, medical educators and students, health caregivers, health journalists, patient advocatesâ€"as well as patients themselves. First in a series of publications from the Quality of Health Care in America, a project initiated by the Institute of Medicine
