Download or read book Genetic Consultations in the Newborn written by Robin D. Clark and published by Oxford University Press. This book was released on 2019-01-16 with total page 401 pages. Available in PDF, EPUB and Kindle. Book excerpt: "The definitive work in genetic evaluation of newborns. I cannot recommend it strongly enough." -Judith G. Hall As demand continues to exceed availability when it comes to clinical geneticists, Genetic Consultations in the Newborn offers an essential new resource for practitioners everywhere: a streamlined diagnostic manual that connects subtle symptoms of newborn dysmorphology to their differential diagnosis. Comprising more than 60 chapters organized by system and symptom, this book facilitates fast, expert navigation from recognition to management in syndromes that manifest during the newborn period. Richly illustrated and packed with pearls of practical wisdom from the authors' decades of practice, it empowers readers to recognize the outward signs and symptoms crucial for an effective diagnosis. For geneticists, neonatologists, pediatricians, and anyone else who cares for infants in their first days of life, Genetic Consultations in the Newborn provides an essential and unmatched resource for navigating one of the most challenging areas of clinical practice. It should not be missed.
Download or read book Autism Spectrum Disorders written by M. Créteil and published by Karger Medical and Scientific Publishers. This book was released on 2015-02-11 with total page 178 pages. Available in PDF, EPUB and Kindle. Book excerpt: Accurate and exhaustive, this book provides a wide overview of the current knowledge on phenotypes, mechanisms and treatment of autism spectrum disorders. It covers topics on diagnostic issues, comorbid conditions and therapeutic strategies along with a detailed discussion on the actual understanding of the pathophysiology of autism disorders. More specifically, this book reviews in detail the current knowledge on the comorbidity between mental and medical disorders, describes abnormal cognitive and social development and gives a thorough overview on genetic as well as brain imaging abnormalities observed in autism spectrum disorders. In addition, the current literature on environmental risk factors which may provide an explanation for the increased prevalence of autism is being described. The last chapter gives an extensive review of early detection and early therapeutic interventions encompassing psycho-social and pharmacological strategies. Each chapter is easy to read and gives the reader access to the most important information on each topic covered. This book provides innovative reading material for medical students, psychologists, researchers and clinicians who need accurate information on the best available diagnostic and therapeutic strategies as well as on up-to-date research data.
Download or read book Genetic Diseases of the Eye written by Elias I. Traboulsi and published by OUP USA. This book was released on 2012-01-12 with total page 940 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book takes a clinical approach to the patient with a genetic disease that affects the eye. The chapters on particular types of diseases follow the same organizational format, covering history, pathogenesis and etiology, epidemiology, classification, clinical manifestations and diagnosis, and treatment. The recent progress achieved in the molecular genetics of eye disease is fully reflected throughout the book. It is written by leading experts in the field and provides clinical, molecular genetic and management information on common and rare diseases. The chapters are heavily illustrated and provide a good Atlas for the practicing ophthalmologist or geneticist.
Download or read book Genomics and Health in the Developing World written by Dhavendra Kumar and published by Oxford University Press. This book was released on 2012-05-11 with total page 1569 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation--with particular emphasis on medical and health issues--in the emerging economies and countries of the developing world. With sections dedicated to fundamtals of genetics and genomics, epidemiology of human disease, biomarkers, comparative genomics, developments in translational genomic medicine, current and future health strategies related to genetic disease, and pertinent legislative and social factors, this volume highlights the importance of utilizing genetics/genomics knowledge to promote and achieve optimal health in the developing world. Grouped by geographic region, the chapters in this volume address: - Inherited disorders in the developing world, including a thorough look at genetic disorders in minority groups of every continent - The progress of diagnostic laboratory genetic testing, prenatal screening, and genetic counseling worldwide - Rising ethical and legal concerns of medical genetics in the developing world - Social, cultural, and religious issues related to genetic diseases across continents Both timely and vastly informative, this book is a unique and comprehensive resource for genetists, clinicians, and public health professionals interested in the social, ethical, economic, and legal matters associated with medical genetics in the developing world.
Download or read book Genetics of Obesity Syndromes written by Philip R. Beales and published by Oxford University Press. This book was released on 2008-08-29 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: Obesity is one of the most important contributing factors to disease throughout the world and is an area of great current interest among researchers and clinicians. The genetics of common obesity is complex, and an important thread through this labyrinth is the study of genetic syndromes in which obesity is a major component. By examining the genetic mechanisms of obesity in these syndromes, the authors will shed new light on the genetics of common obesity. This is the first book on this important and exciting new area and addreses both the molecular and clinical features of the obesity syndromes, providing hard-core information for researchers and practical guidelines for clinicians caring for obese patients. The book is divided into three sections: the first covers approaches for assessing and investigating the obese individual; the second describes nondysmorphic, monogenic forms of obesity; and the third documents key, multisystem obesity syndromes with various genetic etiologies. It is as much a reference book as it is a manual and will appeal to clinical geneticists, obesity researchers, endocrinologists, nutritionists, and medical biologists.
Download or read book Hereditary Effects of Radiation written by United Nations. Scientific Committee on the Effects of Atomic Radiation and published by The Committee. This book was released on 2001 with total page 166 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2001 report completed a comprehensive review of the risks to offspring following parental exposure to radiation. The review included an evaluation of those diseases which have both hereditary and environmental components. The major finding is that the total hereditary risk to the first generation following radiation is less than one tenth of the risk of fatal carcinogenesis following irrradiation. The Committee concluded that a sounder basis now exists for estimating the hereditary risks of radiation exposure. This is due to advances in molecular genetics, and in the evaluation of multifactorial diseases, such as coronary heart disease.
Download or read book Concise Handbook of Familial Cancer Susceptibility Syndromes written by and published by . This book was released on 2008 with total page 93 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Gardner and Sutherland s Chromosome Abnormalities and Genetic Counseling written by R. J. McKinlay Gardner and published by Oxford University Press. This book was released on 2018 with total page 729 pages. Available in PDF, EPUB and Kindle. Book excerpt: Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
Download or read book SIDS Sudden Infant and Early Childhood Death written by Roger W. Byard and published by . This book was released on 2018-04 with total page 844 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume covers aspects of sudden infant and early childhood death, ranging from issues with parental grief, to the most recent theories of brainstem neurotransmitters. It also deals with the changes that have occurred over time with the definitions of SIDS (sudden infant death syndrome), SUDI (sudden unexpected death in infancy) and SUDIC (sudden unexpected death in childhood). The text will be indispensable for SIDS researchers, SIDS organisations, paediatric pathologists, forensic pathologists, paediatricians and families, in addition to residents in training programs that involve paediatrics. It will also be of use to other physicians, lawyers and law enforcement officials who deal with these cases, and should be a useful addition to all medical examiner/forensic, paediatric and pathology departments, hospital and university libraries on a global scale. Given the marked changes that have occurred in the epidemiology and understanding of SIDS and sudden death in the very young over the past decade, a text such as this is very timely and is also urgently needed.
Download or read book Human Chromosome Variation Heteromorphism Polymorphism and Pathogenesis written by Herman E. Wyandt and published by Springer. This book was released on 2017-03-28 with total page 500 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new edition now titled “Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis” provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding the discussion of microarray analysis in the previous edition of the book, are new chapters on microarray and genomic analysis, plus comprehensive tables on the subtle microdeletions and microduplications that are found on each chromosome, including 235 recurring copy number variants that are associated with well-established or emerging chromosomal syndromes. The current edition features concise information on cytogenetic methods and applications, extending these discussions to DNA analysis and genome sequencing. Sections on euchromatin, heterochromatin, FISH pattern, fragile site, copy number, and DNA sequence variation are integrated with actual clinical examples from cytogenetic laboratories and from clinical practice. The principles that allow for the distinction between benign chromosome / DNA variation and pathogenic heteromorphisms / polymorphisms are discussed and include references to the latest organizational guidelines and genomic or population databases. The two previous incarnations of this book: the ‘Atlas of Human Chromosome Heteromorphism’, and ‘Human Chromosome Variation: Heteromorphism and Polymorphism’ have been standard reference works in most cytogenetic laboratories, used by laboratory directors and clinicians all around the world. While widely used sections from the previous edition on cytogenetic technologies and heteromorphisms are retained intact the present volume adds extensive material on copy number variations (polymorphisms detected by microarray analysis), fragile sites in disease and cancer, and practical views on interpreting emerging technologies, including whole exome sequencing. This book should be of interest to clinicians, technicians and students who are or will be exposed to DNA and/or chromosome analysis and the data derived from these continuously developing techniques. This fully updated book volume will bring the reader up to speed on the latest technologies, their applications, benefits and drawbacks and as such, is a must read for anyone with an interest in DNA and chromosome analysis and the distinction between benign variation and pathogenic mistakes.
Download or read book Pediatric Neuro Ophthalmology written by Michael C. Brodsky and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 692 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pediatric Neuroophthalmology details the diagnostic criteria, current concepts of pathogenesis, neuroradiological correlates, and clinical management of a large group of neuroophthalmic disorders that present in childhood. Surprisingly distinct from neuroophthalmic disorders afflicting adults, this set of diseases falls between the cracks of most ophthalmology training, and thus, warrants a practical, clinical guide for the practitioner in ophthalmology - the neuroophthalmologist, pediatric ophthalmologist, general ophthalmologist - as well as neurologists and for residents. The authors, leading pediatric ophthalmologists, have taken this difficult subject matter and developed an accessible, user-friendly manual with a detailed approach to the recognition, differential diagnosis, and management of pediatric neuroophthalmologic disorders.
Download or read book Myopathology written by Balan Louis Gaspar and published by Springer. This book was released on 2018-09-24 with total page 305 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book covers all aspects of basic, essential, recent advances and controversies in myopathology. The major emphasis is on diagnostic myopathology of muscular dystrophies, inflammatory myopathies, mitochondrial myopathies, metabolic myopathies, congenital myopathies, myopathies of miscellaneous etiology, neurogenic and neuromuscular junction disorders, the goal being to broaden readers’ understanding of individual disease subgroups. The book also contains all the essential details needed to establish a neuromuscular lab, making it especially relevant for laboratory technical staff and research scholars.
Download or read book Clinical Mitochondrial Medicine written by Patrick F. Chinnery and published by Cambridge University Press. This book was released on 2018-05-17 with total page 229 pages. Available in PDF, EPUB and Kindle. Book excerpt: This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.
Download or read book Handbook of Pediatric Strabismus and Amblyopia written by Kenneth W. Wright and published by Springer Science & Business Media. This book was released on 2006-09-24 with total page 567 pages. Available in PDF, EPUB and Kindle. Book excerpt: Based on Dr. Wright’s classic major reference, Handbook of Pediatric Strabismus and Amblyopia outlines the latest findings in diagnosing the most commonly presenting problems in pediatic cases, offering the most complete assessment tools for accurate diagnosis and then best treatment options. Distilling the essentials of these prevelant and sometimes complicated cases into a portable, complete and authorative pocket reference, this handbook offers a complete picture of how to best treat pediatric patients. Specifically, the introductory chapters on the specifics of pediatric ophthalmology (embryology, post-natal development and the pediatric exam) will help newcomers to pediatric practice fully grasp the subtle differences in pediatric care. The chapters are written by leading experts in the field and are presented in a user-friendly format, relying on heavily illustrated in color plates, clincally helpful tables, charts, and decision-making guidelines. This approach will enable the practitioner (whether specialist or generalist) to make the most accurate diagnosis and choose the most effective treatment option.
Download or read book Tacrolimus Ointment written by T. Ruzicka and published by Springer Science & Business Media. This book was released on 2013-04-17 with total page 285 pages. Available in PDF, EPUB and Kindle. Book excerpt: Therapeutic breakthroughs in medicine are usually accompanied by a wealth of data. Often they result in a change of disease treatment paradigms. Tacrolimus ointment is the first in the new class of steroid-free Topical Immunomodulators (TIMs), and as such represents the first true breakthrough since the introduction of topical steroids more than 50 years ago for the treatment of T-cell mediated inflammatory skin diseases such as atopic dermatitis. This book gives an easy-to-read overview of the discovery and the development of Tacrolimus ointment for the treatment of atopic dermatitis. Summarising the largest clinical trial program ever conducted in dermatology for a new treatment with more than 13000 patients, it offers a detailed insight into the efficacy and safety profile of Tacrolimus ointment. Based on this large body of data and extensive personal experience, the authors offer practical and hands-on guidance for the physician as to when and how to use Tacrolimus ointment in daily practice.
Download or read book Chromosome Abnormalities and Genetic Counseling written by R.J. MKinlay Gardner and published by OUP USA. This book was released on 2012 with total page 650 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.
Download or read book Congenital Anomalies of the Kidney and Urinary Tract written by Amin J. Barakat and published by Springer. This book was released on 2016-06-08 with total page 373 pages. Available in PDF, EPUB and Kindle. Book excerpt: This comprehensive, easy to read reference addresses the clinical implications of congenital anomalies of the kidney and urinary tract (CAKUT) in children. Authored by a panel of internationally recognized pediatric nephrologists and urologists, chapters discuss clinical presentation, workup, interpretation of imaging studies, genetics, prenatal diagnosis, prevention and treatment of various anomalies to help the practitioner understand, diagnose and manage CAKUT. Tables, figures, algorithms and an extensive appendix listing conditions and syndromes associated with CAKUT are featured to assist physicians in the differential diagnosis and workup of different conditions.
