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Author : James Joseph O'Donnell
Publisher :
ISBN 13 :
Total Pages : 380 pages
Book Rating : 4.3/5 (91 download)
Download or read book Penetrance and Variability in Malformation Syndromes written by James Joseph O'Donnell and published by . This book was released on 1979 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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 : Francesco Chiarelli
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3805577664
Total Pages : 391 pages
Book Rating : 4.8/5 (55 download)
Download or read book Diabetes in Childhood and Adolescence written by Francesco Chiarelli and published by Karger Medical and Scientific Publishers. This book was released on 2005-01-01 with total page 391 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diabetes mellitus is one of the most frequent chronic diseases affecting children and adolescents. The number of young children being diagnosed with type 1 diabetes is increasing worldwide and an epidemic of type 2 diabetes already at a young age is being
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 : Anne H. Child
Publisher : Springer
ISBN 13 : 1447154428
Total Pages : 311 pages
Book Rating : 4.4/5 (471 download)
Download or read book Diagnosis and Management of Marfan Syndrome written by Anne H. Child and published by Springer. This book was released on 2016-04-06 with total page 311 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book has been written in response to the many excellent questions posed by our patients and their care teams, questions which deserve the best-informed and up to date answers provided by our experts in each of the many health areas affected by Marfan syndrome. The aim of this text is to provide a summary of the present day understanding of diagnosis, management and best medical and surgical treatment of infants, children and adults with Marfan syndrome. The authors cover the lifelong problems from birth to old age, in each affected system. Forty percent of this information is the result of new careful research based on a well-defined longitudinally studied UK patient population.
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 : Denise van der Linde
Publisher : Elsevier
ISBN 13 : 0128027118
Total Pages : 180 pages
Book Rating : 4.1/5 (28 download)
Download or read book Aneurysms-Osteoarthritis Syndrome written by Denise van der Linde and published by Elsevier. This book was released on 2016-10-03 with total page 180 pages. Available in PDF, EPUB and Kindle. Book excerpt: Aneurysms-Osteoarthritis Syndrome: SMAD3 Gene Mutations is a first-of-its-kind compilation of the genetic discovery, research, and care associated with AOS. With the field of genetically triggered aortopathies growing, this important reference will compile the newest discoveries in this field, allowing cardiologists, cardio-thoracic surgeons, clinical geneticists, vascular surgeons, orthopedic surgeons, and researchers to gain the knowledge they need without having to gather the data from various sources. Coverage includes genotype and phenotype correlations, the functional role of SMAD3, and insights into the role of TGFbeta signaling in aortic disease. The book will increase knowledge about AOS, providing awareness and better patient care for this aggressive disease. - Covers Aneurysms-Osteoarthritis Syndrome, from genetic discovery to patient care - Contains clinical management guidance on optimal cardiovascular treatments and surgery - Explains the autosomal dominant syndromes caused by mutations in the SMAD3 gene - Identifies the key features of this syndrome, including arterial aneurysms and tortuosity, early onset arthritis, and mild craniofacial features
Author : Sam Goldstein
Publisher : Guilford Press
ISBN 13 : 9781609180010
Total Pages : 588 pages
Book Rating : 4.1/5 (8 download)
Download or read book Handbook of Neurodevelopmental and Genetic Disorders in Children, 2/e written by Sam Goldstein and published by Guilford Press. This book was released on 2010-10-19 with total page 588 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recognized as the definitive reference in the field, this book addresses a broad range of biologically based disorders that affect children's learning and development. Leading authorities review the genetics of each disorder; its course and outcome; associated developmental, cognitive, and psychosocial challenges; and what clinicians and educators need to know about effective approaches to assessment and intervention. Coverage encompasses more frequently diagnosed learning and behavior problems with a genetic component as well as numerous lower-incidence neurodevelopmental disabilities. Illustrations include 12 color plates.
Author : James R. Lupski
Publisher : Springer Science & Business Media
ISBN 13 : 1597450391
Total Pages : 419 pages
Book Rating : 4.5/5 (974 download)
Download or read book Genomic Disorders written by James R. Lupski and published by Springer Science & Business Media. This book was released on 2007-11-10 with total page 419 pages. Available in PDF, EPUB and Kindle. Book excerpt: A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.
Author : Steven J. Frucht
Publisher : Springer Nature
ISBN 13 : 3030369757
Total Pages : 312 pages
Book Rating : 4.0/5 (33 download)
Download or read book Movement Disorders Phenomenology written by Steven J. Frucht and published by Springer Nature. This book was released on 2020-03-12 with total page 312 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents a comprehensive, practical approach to the evaluation of movement disorders using phenomenological basic principles, new discoveries in phenomenological research, and core values of outpatient neurology. Movement Disorders Phenomenology begins with an overview of phenomenology and common approaches to movement disorder patients. Subsequent chapters then accurately and concisely relay information on major hypokinetic disorders such as atypical Parkinsonism, idiopathic Parkinson’s disease, cortical myoclonus, and complex motor tics. Expertly written text is further supplemented by patient vignettes at the beginning of select chapter that focus the reader's attention and highlight the urgency of the problem. These high quality videos aid in the astute clinical diagnosis of many movement disorders that are still largely dependent on visual pattern recognition in the clinic. The book closes with a timely discussion on the role of genetics in movement disorders. Written for the practicing physician, Movement Disorders Phenomenology is an indispensable reference for neurology residents, general neurologists, movement disorders fellows and clinicians, and to any clinician who encounters and evaluates patients in the outpatient arena.
Author : R.N. Weinreb
Publisher : Kugler Publications
ISBN 13 : 9062992390
Total Pages : 290 pages
Book Rating : 4.0/5 (629 download)
Download or read book Childhood Glaucoma written by R.N. Weinreb and published by Kugler Publications. This book was released on 2013-11-07 with total page 290 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preface Childhood is the topic of the ninth World Glaucoma Association Consensus. There has been only sparse attention to the diagnosis and treatment of childhood glaucoma. Both pediatric ophthalmologists and glaucoma specialists provide care for such children. In some instances, they manage these individuals alone and, in others, the management is shared. For this consensus, the participation of both groups was solicited. The global faculty, consisting of leading authorities on the clinical and scientific aspects of childhood glaucoma, met in Vancouver on July 16, 2013, just prior to the World Glaucoma Congress, to discuss the reports and refine the consensus statements. As with prior meetings, it was a daunting task to seek and obtain consensus on such a complicated and nuanced subject. It is unclear how each of us decides how we practice, and evidence to guide us often is sparse. It is remarkable how few high level studies have been conducted on the management of childhood glaucoma. Hence, this consensus, as with the others, is based not only on the published literature, but also on expert opinion. Although consensus does not replace and is not a surrogate for scientific investigation, it does provide considerable value, especially when the desired evidence is lacking. The goal of this consensus was to provide a foundation for diagnosing and treating childhood glaucoma and how it can be best done in clinical practice. Identification of those areas for which we have little evidence and, therefore, the need for additional research also was a high priority. We hope that this consensus report will serve as a benchmark of our understanding. However, this consensus report, as with each of the others, is intended to be just a beginning. It is expected that it will be revised and improved with the emergence of new evidence. Robert N. Weinreb, Chair
Author : Mohammad Ali El-Darouti
Publisher : Springer Nature
ISBN 13 : 3030218554
Total Pages : 548 pages
Book Rating : 4.0/5 (32 download)
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.
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 : Issam A. Awad
Publisher : Thieme
ISBN 13 : 9781879284074
Total Pages : 250 pages
Book Rating : 4.2/5 (84 download)
Download or read book Cavernous Malformations written by Issam A. Awad and published by Thieme. This book was released on 1993 with total page 250 pages. Available in PDF, EPUB and Kindle. Book excerpt: The massive convergence of information about cavernous malformations has been synthesized in this volume by experts in the field of pathology, neuroradiology and neurosurgery. Cavernous Malformations represents state-of-the-art knowledge about this lesion and the spectrum of opinion about its nature, clinical behavior and management strategies. Highlights of Cavernous Malformations: Definition and pathologic features Epidemiology Diagnostic imaging Epilepsy Hemorrhage Conservative management Surgical intervention Microsurgical treatments Spinal cavernous malformations Pediatrics Radiotherapy (Distributed by Thieme for the American Association of Neurological Surgeons)
Author : David A. Mitchell
Publisher : Oxford University Press, USA
ISBN 13 : 0199679851
Total Pages : 813 pages
Book Rating : 4.1/5 (996 download)
Download or read book Oxford Handbook of Clinical Dentistry written by David A. Mitchell and published by Oxford University Press, USA. This book was released on 2014 with total page 813 pages. Available in PDF, EPUB and Kindle. Book excerpt: This essential pocket guide covers clinical dentistry in a concise format. All the fundamentals of clinical practice are included in a readily accessible style. Now completely revised, it includes a wealth of new information and full colour throughout.
Author : R. J. McKinlay Gardner
Publisher : Oxford University Press
ISBN 13 : 0199329001
Total Pages : 729 pages
Book Rating : 4.1/5 (993 download)
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.
Author : Ajay K. Khanna
Publisher : Springer Nature
ISBN 13 : 9811597626
Total Pages : 303 pages
Book Rating : 4.8/5 (115 download)
Download or read book Vascular Malformations written by Ajay K. Khanna and published by Springer Nature. This book was released on 2021-01-05 with total page 303 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book covers all aspects of vascular malformations including classification, embryology, genetics, clinical approach, investigations, management, controversies and key points to remember. Chapters cover recent changes in detail in various aspects, such as classification, genetic decoding, minimal intervention, selective approach and investigations for different types. It offers clear guidance on diagnostic protocol and surgical decision making with changing scenario leading to evolving endovascular and radiological interventions. The book is useful for vascular surgeon, pediatric surgeon, general surgeon, plastic surgeon and intervention radiologist as well as clinical research scholars, surgical oncologists and radiologists.
