Download or read book Diagnostic Dysmorphology written by J.M. Aase and published by Springer. This book was released on 1990-11-30 with total page 328 pages. Available in PDF, EPUB and Kindle. Book excerpt: This text provides a systematic approach to the diagnosis of children with multiple birth defects. It outlines the embryologic origins of normal and abnormal physical development, describes the major and minor structural anomalies in each of 20 anatomic regions, and teaches techniques of observation and synthesis useful in dysmorphologic diagnosis. Medical specialists will find Dr. Aase's book invaluable both as an instructive tool and as a clinical reference guide.
Download or read book Diagnostic Dysmorphology written by Jon M. Aase and published by . This book was released on 1990 with total page 299 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The Bedside Dysmorphologist written by William Reardon and published by Oxford University Press. This book was released on 2007-09-28 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: A highly illustrated field guide to dysmorphology, a key area of clinical genetics and a vital competency for all clinicians. Oxford Genetics is a comprehensive, cross-searchable collection of resources offering quick and easy access to Oxford University Press's prestigious genetics texts. Joining Oxford Medicine Online these resources offer students, specialists and clinical researchers the best quality content in an easy-to-access format. Online only benefits include downloading images and figures to PowerPoint and downloading chapters to PDF.
Download or read book The Bedside Dysmorphologist written by William Reardon and published by . This book was released on 2008 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Dysmorphology is the study of congenital malformations and is one of the core areas of clinical genetics. Often the first professional seeing these birth defects is a pediatrician, who notices, for example, that the ears may be rather low set. While in itself minor, this physical sign may indicate a malformation that will be accompanied by other serious genetic disorders. Does the sign, or does it not, indicate an underlying syndrome? That question is often quite difficult to answer, and the texts that may aid in diagnosis are highly sophisticated and rather daunting for the practicing pediatrician. The aim of Reardon's new text is to provide a practical solution to this situation.
Download or read book Nelson Pediatric Symptom Based Diagnosis written by Robert M. Kliegman and published by Elsevier Health Sciences. This book was released on 2022-01-10 with total page 1355 pages. Available in PDF, EPUB and Kindle. Book excerpt: Patients don’t present with a disease; they present with symptoms. Using a practical, symptom-based organization, Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics, 2nd Edition, offers authoritative guidance on differential diagnosis and treatment of diseases and disorders in children and adolescents, and covers the symptoms you’re likely to see in practice, their mimics, and uncommon disorders. Drs. Robert M. Kliegman, Heather Toth, Brett J. Bordini, and Donald Basel walk you through what to consider and how to proceed when faced with common symptoms such as cough, fever, headache, autistic-like behaviors, chronic pain, chest pain, gait disturbances, and much more. Begins with a presenting symptom and leads you through differential diagnosis and a concise review of treatment recommendations. Contains more than a dozen new topics including Disease Mimics: An Approach to Undiagnosed Diseases, Autistic-like Behaviors, Shock, Hypertension, Neurocognitive and Developmental Regression, Chronic Pain, Hypertonicity, Movement Disorders, Hypermobility, and more. Features a new focus on symptoms of rarer diseases that are mimics of more common diseases. Offers a user-friendly approach to Altered Mental Status such as coma and other CNS disorders, with numerous clinically useful tables and figures to guide clinical decision making in various care settings. Uses a highly templated format for easy reference and quick answers to clinical questions, with the same consistent presentation in each chapter: History, Physical Examination, Diagnosis (including laboratory tests), Imaging, Diagnosis, and Treatment. Includes numerous full-color illustrations, algorithms, tables, and "red flags" to aid differential diagnosis. Serves as an ideal companion to Nelson Textbook of Pediatrics, 21st Edition. Content in this book is referenced and linked electronically to the larger text, providing easy access to full background and evidence-based treatment and management content when you own both references.
Download or read book Prenatal Alcohol Use and Fetal Alcohol Spectrum Disorders Diagnosis Assessment and New Directions in Research and Multimodal Treatment written by Susan A. Adubato and published by Bentham Science Publishers. This book was released on 2011 with total page 216 pages. Available in PDF, EPUB and Kindle. Book excerpt: This eBook addresses the impact of prenatal exposure to alcohol, and Fetal Alcohol Spectrum Disorders (FASD). It presents a compilation of current research by leading experts in the field and serves as a guide to future directions in FASD research, interventions and treatment. the book includes a comprehensive compendium of our knowledge of the dangers of prenatal alcohol exposure and covers ways to screen and intervene with pregnant women, diagnosis and treatment to ameliorate the effects of prenatal alcohol exposure (through the lifespan), and other related issues, such as building a state infrastructure of health services and legislation. the eBook is intended as a textbook for graduate courses relevant to FASD.
Download or read book PG Textbook of Pediatrics written by Piyush Gupta and published by JP Medical Ltd. This book was released on 2015-08-31 with total page 1124 pages. Available in PDF, EPUB and Kindle. Book excerpt: Postgraduate Textbook of Pediatrics is a comprehensive guide to paediatrics. The textbook is comprised of three volumes, split into ten parts with over 600 chapters, and contributions from over 50 section editors and 725 authors, covering all paediatric disorders, descriptions of diseases and their management. Includes nearly 1500 images and illustrations in full colour, incorporating information on modern imaging techniques for neurological disorders in children. This is an ideal resource for postgraduate students to gain a firm grounding in, and retain and improve their knowledge of all areas of paediatric medicine.
Download or read book Child and Adolescent Communication Disorders written by Marie R. Kerins and published by Plural Publishing. This book was released on 2014-12-30 with total page 473 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Fetal Alcohol Spectrum Disorders written by Omar A. Abdul-Rahman and published by Springer Nature. This book was released on 2023-07-19 with total page 497 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fetal alcohol spectrum disorders (FASD) represent a range of physical, mental, and behavioral disabilities caused by alcohol use during pregnancy, or prenatal alcohol exposure (PAE). FASDs are considered to be one of the leading causes of developmental disability, with an estimated 2-5% of children being born with FASD each year in the world. Despite its high prevalence, FASD is often misdiagnosed or underdiagnosed, making intervention more challenging. A multidisciplinary team of providers who understand the diagnostic requirements is crucial for an accurate FASD diagnosis. This text provides a comprehensive, state-of-the art review of this field, and serves as a valuable resource for clinicians and researchers with an interest in FASD. The book provides a detailed overview for clinicians of various backgrounds on the diagnostic process, extensive mechanistic and embryologic data, neuropsychologic aspects of the condition, prevention and treatment approaches, and the ethical, legal, and policy perspectives that impact patients and families. The chapters are organized parallel to the journey of individuals who experience alcohol-related conditions, beginning with the prenatal period addressing epidemiology of alcohol exposure, prevention and interventions, continuing through the fetal experience with a focus on embryology. Challenges of children and their families are considered next including the diagnostic process and health effects. Finally, issues related to systems of care for individuals with FASD and the broader community are addressed. The global context of FASD is presented throughout the textbook. Written by experts in the field, Fetal Alcohol Spectrum Disorders provides a concise yet comprehensive summary of the current status of this issue that helps guide prevention efforts, the diagnostic process, school and community interventions, and global policy efforts.
Download or read book The Gene the Clinic and the Family written by Joanna Latimer and published by Routledge. This book was released on 2013-07-04 with total page 404 pages. Available in PDF, EPUB and Kindle. Book excerpt: While some theorists argue that medicine is caught in a relentless process of ‘geneticization’ and others offer a thesis of biomedicalization, there is still little research that explores how these effects are accomplished in practice. Joanna Latimer, whose groundbreaking ethnography on acute medicine gave us the social science classic The Conduct of Care, moves her focus from the bedside to the clinic in this in-depth study of genetic medicine. Against current thinking that proselytises the rise of laboratory science, Professor Latimer shows how the genetic clinic is at the heart of the revolution in the new genetics. Tracing how work on the abnormal in an embryonic genetic science, dysmorphology, is changing our thinking about the normal, The Gene, the Clinic, and the Family charts new understandings about family, procreation and choice. Far from medicine experiencing the much-proclaimed ‘death of the clinic’, this book shows how medicine is both reasserting its status as a science and revitalising its dominance over society, not only for now but for societies in the future. This book will appeal to students, scholars and professionals interested in medical sociology, science and technology studies, the anthropology of science, medical science and genetics, as well as genetic counselling.
Download or read book Differential Diagnosis of Autism Spectrum Disorder written by Katherine K. M. Stavropoulos and published by Oxford University Press. This book was released on 2022 with total page 249 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Although cases of autism can, in retrospect, be identified before Kanner's 1943 classic report (also see Donvan and Zucker 2016), it was Kanner's genius to put together the core features that we continue to associate with autism; autistic aloneness and restricted interests/difficulties with change. This description was straightforward and atheoretical and has stood the test of time even as we debate the boundaries of autism today. The early years following Kanner's initial presentation were plagued by a lack of consistency in diagnosis and several mistaken beliefs about autism, e.g., associations with childhood schizophrenia and inappropriate parenting. This changed dramatically in the 1970s as three lines of evidence helped establish the validity of autism as a diagnostic concept: These included: 1) the awareness that autism was a brain-based disorder associated with high rates of epilepsy with peaks of onset in early childhood and adolescence, 2) the first twin studies of autism made it clear that there was a very strong genetic component of autism with high concordance in MZ twins, and 3) children with autism responded best to structured teaching rather than unstructured psychotherapy (see Jackson and Volkmar, 2019 for a discussion)"--
Download or read book Clinical Applications for Next Generation Sequencing written by Urszula Demkow and published by Academic Press. This book was released on 2015-09-10 with total page 334 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Applications for Next Generation Sequencing provides readers with an outstanding postgraduate resource to learn about the translational use of NGS in clinical environments. Rooted in both medical genetics and clinical medicine, the book fills the gap between state-of-the-art technology and evidence-based practice, providing an educational opportunity for users to advance patient care by transferring NGS to the needs of real-world patients. The book builds an interface between genetic laboratory staff and clinical health workers to not only improve communication, but also strengthen cooperation. Users will find valuable tactics they can use to build a systematic framework for understanding the role of NGS testing in both common and rare diseases and conditions, from prenatal care, like chromosomal abnormalities, up to advanced age problems like dementia. Fills the gap between state-of-the-art technology and evidence-based practice Provides an educational opportunity which advances patient care through the transfer of NGS to real-world patient assessment Promotes a practical tool that clinicians can apply directly to patient care Includes a systematic framework for understanding the role of NGS testing in many common and rare diseases Presents evidence regarding the important role of NGS in current diagnostic strategies
Download or read book Genetic Disorders of the Indian Subcontinent written by Dhavendra Kumar and published by Springer Science & Business Media. This book was released on 2012-09-15 with total page 611 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Indian subcontinent is a vast land mass inhabited by over one billion people. Its rich and varied history is reflected by its numerous racial and ethnic groups and its distinct religious, cultural and social characteristics. Like many developing countries in Asia, it is passing through both demographic and epidemiological transitions whereby, at least in some parts, the diseases of severe poverty are being replaced by those of Westemisation; obesity, diabetes, and heart disease, for example. Indeed, as we move into the new millennium India has become a land of opposites; on the one hand there is still extensive poverty yet, on the other hand, some of the most remarkable developments in commerce and technology in Asia are taking place, notably in the fields of information technology and biotechnology. India has always fascinated human geneticists and a considerable amount of work has been done towards tracing the origins of its different ethnic groups. In the current excitement generated by the human genome project and the molecular and genetic approach to the study of human disease, there is little doubt that this field will develop and flourish in India in the future. Although so far there are limited data about genetic diseases in India, enough is known already to suggest that this will be an extremely fruitful area of research.
Download or read book Diagnosis and Management of Fetal Disorders written by Boris M. Petrikovsky and published by Bentham Science Publishers. This book was released on 2023-06-16 with total page 208 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diagnosis and Management of Fetal Disorders reviews key points in obstetrics/maternal fetal medicine imagery analysis of the pregnant uterus and its contents. Specifically, chapters cover ultrasound of different fetal organs, physiological systems and diseases. The authors also provide radiological correlation to help the obstetrician, pediatrician, radiologist, and other specialists know the basics and some more advanced concepts that will allow diagnosis of fetal abnormality, and what those findings mean to the patient and their families vis-a-vis the fetus in their pregnancy. It is, therefore, a handbook that helps medical residents and professionals to assess cases in real-time or to review a given clinical problem. Key Features - 13 structured chapters covering key topics related to the ultrasound of different fetal organs, physiological systems and diseases - Evidence-based presentation through detailed images - Portability and practical information on general and differential diagnostics to consider in fetal and uterine examinations. - Useful information for medical and genetic counseling for mothers and couples - References for advanced readers The book is intended for a broad readership in medicine including medical students, specialty trainees and attending physicians in obstetrics, pediatrics, radiology, and subspecialty trainees in maternal fetal medicine, neonatology, ultrasound diagnostics. Medical professionals in allied fields including sonography, family practice, and genetic counseling will also benefit from the information presented in the book.
Download or read book Abnormal Skeletal Phenotypes written by Alessandro Castriota-Scanderbeg and published by Springer Science & Business Media. This book was released on 2006-03-20 with total page 970 pages. Available in PDF, EPUB and Kindle. Book excerpt: Taking a symptom-oriented approach, this book focuses on the radiographic changes of malformation syndromes and skeletal dysplasias. Its clear structure makes it an essential, practical guide for radiologists, geneticists, and pediatricians.
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
Download or read book Genetic Counseling written by Usha Dave and published by Jaypee Brothers Medical Publishers. This book was released on 2021-12-31 with total page 499 pages. Available in PDF, EPUB and Kindle. Book excerpt:
