What is NOONAN SYNDROME ? Causes, Treatment and More.

What is NOONAN SYNDROME ? Causes, Treatment and More. PDF

Author: Dr. H. K. Saboowala.

Publisher: Dr.Hakim Saboowala

Published: 2024-05-26

Total Pages: 44

ISBN-13:

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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

NORD Guide to Rare Disorders

NORD Guide to Rare Disorders PDF

Author: National Organization for Rare Disorders

Publisher: Lippincott Williams & Wilkins

Published: 2003

Total Pages: 982

ISBN-13: 9780781730631

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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.

Personality and Psychopathology

Personality and Psychopathology PDF

Author: Robert F. Krueger

Publisher: Guilford Publications

Published: 2013-10-17

Total Pages: 415

ISBN-13: 1462514847

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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.

Cassidy and Allanson's Management of Genetic Syndromes

Cassidy and Allanson's Management of Genetic Syndromes PDF

Author: John C. Carey

Publisher: John Wiley & Sons

Published: 2021-01-27

Total Pages: 1104

ISBN-13: 1119432677

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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.

Growth Hormone Therapy in Pediatrics

Growth Hormone Therapy in Pediatrics PDF

Author: Michael B. Ranke

Publisher: Karger Medical and Scientific Publishers

Published: 2007-01-01

Total Pages: 534

ISBN-13: 3805582560

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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.

Animal and Translational Models for CNS Drug Discovery

Animal and Translational Models for CNS Drug Discovery PDF

Author: Robert A. McArthur

Publisher: Academic Press

Published: 2008-11-27

Total Pages: 1367

ISBN-13: 0080920411

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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.

Syndromes: Rapid Recognition and Perioperative Implications

Syndromes: Rapid Recognition and Perioperative Implications PDF

Author: Bruno Bissonnette

Publisher: McGraw-Hill Education / Medical

Published: 2006-08-10

Total Pages: 988

ISBN-13:

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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.

Managing Your Depression

Managing Your Depression PDF

Author: Susan J. Noonan

Publisher: JHU Press

Published: 2013-05-29

Total Pages: 179

ISBN-13: 142140947X

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As a physician who personally suffers from depression, Susan J. Noonan draws on her own expertise and empathy to create a guide for people who suffer from the disease. Explaining the basics of mental health—including sleep hygiene, diet and nutrition, exercise, routine and structure, and avoiding isolation— Managing Your Depression empowers people to participate in their own care, offering them a better chance of getting, and staying, well. Noonan’s depression management strategies draw on the best available educational resources, psychoeducational programs, seminars, expert health care providers, and patient experiences. The book is specifically designed to be highly readable for people who are finding it difficult to focus and concentrate during an episode of depression. Cognitive exercises and daily worksheets help track progress and response to therapy and provide valuable information for making treatment decisions. A relapsing and remitting condition, depression affects nearly 15 percent of people in the United States. Managing Your Depression will bring depression management strategies to people who do not have access to mental health programs or who want to learn new skills. -- Francis M. Mondimore, M.D., The Johns Hopkins Hospital

Management of Genetic Syndromes

Management of Genetic Syndromes PDF

Author: Suzanne B. Cassidy

Publisher: John Wiley & Sons

Published: 2011-09-20

Total Pages: 1678

ISBN-13: 1118210670

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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