Author: National Organization for Rare Disorders
Publisher: Lippincott Williams & Wilkins
ISBN: 9780781730631
Category : Medical
Languages : en
Pages : 982
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Book Description
NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Author: Dr. H. K. Saboowala.
Publisher: Dr.Hakim Saboowala
ISBN:
Category : Medical
Languages : en
Pages : 44
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Book Description
What is NOONAN SYNDROME ? Causes, Treatment and More. Noonan syndrome is a genetically inherited disease with heterogeneous, phenotypic manifestations that can change with age. Gene mutations involve the RAAS/MAPK (mitogen-activated protein kinase) signalling pathway. The patient presentation can range from mild to severe. Thus, The most consistent features are wide-set eyes, low-set ears, short stature, and pulmonic stenosis. Noonan syndrome is typically inherited in an autosomal dominant manner. Diagnostic criteria have been developed to aid in the diagnosis of Noonan syndrome. Noonan syndrome is typically a clinical diagnosis. Thus, it is strived in this E-Booklet to describe the Aetiology, Prevalence, Diagnosis, Management, Outlook, and Complications of Noonan syndrome along with plenty of ILLUSTRATIONS for better understanding the entity. Dr. H. K. Saboowala. M.B.(Bom) .M.R.S.H.(London
Author: John C. Carey
Publisher: John Wiley & Sons
ISBN: 1119432677
Category : Science
Languages : en
Pages : 1104
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Book Description
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: Robert F. Krueger
Publisher: Guilford Publications
ISBN: 1462514847
Category : Psychology
Languages : en
Pages : 415
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Book Description
Traditionally, personality and psychopathology have been distinct areas of inquiry. This important volume reviews influential research programs that increasingly bridge the gap between the two areas. Presented are compelling perspectives on whether certain personality traits or structures confer risks for mental illness, how temperament interacts with other influences on psychological adaptation, links between personality disorders and mood and anxiety disorders, implications for effective intervention, and more.
Author: Michael B. Ranke
Publisher: Karger Medical and Scientific Publishers
ISBN: 3805582560
Category : Medical
Languages : en
Pages : 534
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Book Description
For 20 years, KIGS (Pfizer International Growth Database) has provided an outstanding tool for monitoring the use, efficacy and safety of growth hormone (GH) treatment in children with short stature of varying origin. This volume offers a comprehensive update of the continuing experiences in KIGS and is based on data from more than 50 countries and more than 60,000 patients. International experts analyse in detail the basic auxological characteristics of patients and their response to GH treatment for a broad spectrum of growth disorders. These include idiopathic GH deficiency, organic GH deficiency due to a variety of causes such as congenital malformations and syndromes, genetic disorders or treatment for leukaemia or central nervous system tumours and short stature in children born small for gestational age, specific syndromes and systemic disorders. Each growth disorder is also covered by a review of relevant published data by international experts. KIGS has also established itself as a primary source of information about adverse events during long-term GH treatment in children. The recent analysis of KIGS data has revealed no new adverse drug reactions since the 10-year follow-up. Therefore, treatment with GH seems a low-risk intervention in children and adolescents with various growth disorders. The process of developing disease-specific growth response prediction models has been ongoing in KIGS for many years. The available models are accurate, precise and have a relatively high degree of predictive power, although further predictors of the growth response remain to be identified. The KIGS prediction models can be applied prospectively to new patients, enabling their GH therapy to be better tailored and monitored to achieve optimal growth, safety and cost outcomes. The future of KIGS within the era of evidence-based medicine will continue to depend upon the quality of the data reported. Therefore, the commitment of participating physicians will continue to be a decisive element. The ongoing recognition of the importance of valid safety and efficacy information in the practice of paediatric endocrinology is exemplified by this valuable international collaboration of clinicians and the pharmaceutical community.
Author: Bruno Bissonnette
Publisher: McGraw-Hill Education / Medical
ISBN:
Category : Medical
Languages : en
Pages : 988
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Book Description
Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.
Author: Thomas A. Widiger
Publisher: Oxford University Press
ISBN: 0199996016
Category : Psychology
Languages : en
Pages : 856
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Book Description
This text provides a summary of what is currently known about the diagnosis, assessment, construct validity, etiology, pathology, and treatment of personality disorders. It also provides extensive coverage of the many controversial changes for the DSM-5, including chapters by proponents and opponents to these changes.
Author: Sam Goldstein
Publisher: Guilford Press
ISBN: 9781609180010
Category : Psychology
Languages : en
Pages : 588
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Book Description
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: Robert A. McArthur
Publisher: Academic Press
ISBN: 0080920411
Category : Science
Languages : en
Pages : 1367
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Book Description
Animal and Translational Models for CNS Drug Discovery combines the experience of academic, clinical and pharmaceutical neuroscientists in a unique collaborative approach to provide a greater understanding of the relevance of animal models of neuropsychiatric disorders and their role as translational tools for the discovery of CNS drugs being developed for the treatment of these disorders. The focus of this three-volume series of essays is to present a consensual picture of the translational value of animal models from leading experts actively involved in the use of animal models for understanding fundamental neurobiology of CNS disorders and the application of this knowledge to CNS drug discovery, and clinical investigators involved in clinical trials, drug development and eventual registration of novel pharmaceuticals. Each volume of the Animal and Translational Models for CNS Drug Discovery series is dedicated to the development and use of animal models in key therapeutic areas in psychiatric, neurologic and reward deficit disorders. Each volume has introductory chapters expressing the view of the role and relevance of animal models for CNS drug discovery and development from the perspective of (a) academic basic neuroscientific research, (b) applied pharmaceutical drug discovery and development, and (c) issues of clinical trial design and regulatory agencies limitations. Each volume examines the rationale, use, robustness and limitations of animal models in relevant therapeutic areas and discusses the use of animal models for target identification and validation. The clinical relevance of animal models is discussed in terms of major limitations in cross-species comparisons, clinical trial design of drug candidates, and how clinical trial endpoints could be improved. The aim of this series of volumes on Animal and Translational Models for CNS Drug Discovery is to identify and provide common endpoints between species that can serve to inform both the clinic and the bench with the information needed to accelerate clinically-effective CNS drug discovery. - Provides clinical, academic, government and industry perspectives fostering integrated communication between principle participants at all stages of the drug discovery process - Critical evaluation of animal and translational models improving transition from drug discovery and clinical development - Emphasizes what results mean to the overall drug discovery process - Explores issues in clinical trial design and conductance in each therapeutic area - Each volume is available for purchase individually.
Author: Jens O. L. Jørgensen
Publisher: Karger Medical and Scientific Publishers
ISBN: 3805579926
Category : Science
Languages : en
Pages : 241
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Book Description
It has been known for over 40 years that GH-deficient-children benefit from replacement with the hormone. But GH, essential for longitudinal growth, also plays a role after completion of final height. With the introduction of biosynthetic human GH 20 years ago, the use of GH was no longer restricted to severe growth retardation in hypopituitary children. This book will take the reader behind the myths of GH and into the real world of clinical endocrinology. The contributions stem from recognized clinicians and scientists who have been working in the field for decades. The contents encompass traditional end points of GH therapy such as body composition, bone biology and physical performance. Attention is also devoted to diagnostic aspects and side effects. Additional features range from clinical epidemiology to quality of life, and novel areas such as the impact of traumatic brain injury on pituitary function are also covered. The present volume of Frontiers of Hormone Research is essential reading for health care professionals interested in clinical endocrinology and GH.
