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Author: Rene Pierpont (Pediatric Neuropsychologist)
Publisher: Createspace Independent Publishing Platform
Published: 2018-01-06
Total Pages: 40
ISBN-13: 9781981346561
DOWNLOAD EBOOK →Anna is a spunky 9-year-old girl who loves acting and drawing Anna has Noonan syndrome, a genetic condition that affects how her body grows. Join Anna, her mother and her dog Sammy as they go through a busy and adventure-filled week, ad see what living with Noonan syndrome means for Anna!
Author: National Organization for Rare Disorders
Publisher: Lippincott Williams & Wilkins
Published: 2003
Total Pages: 982
ISBN-13: 9780781730631
DOWNLOAD EBOOK →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: Michael B. Ranke
Publisher: Karger Medical and Scientific Publishers
Published: 2007-01-01
Total Pages: 534
ISBN-13: 3805582560
DOWNLOAD EBOOK →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: Amrit P.S. Bhangoo
Publisher: Academic Press
Published: 2019-05-16
Total Pages: 215
ISBN-13: 0128153490
DOWNLOAD EBOOK →Noonan Syndrome: Characteristics and Interventions provides an in-depth analysis on this disorder that pediatric endocrinologists and primary care clinicians can use to make sure they provide affected patients with an updated model of care and appropriate treatment. The book examines recent advances in understanding and treating short stature in Noonan Syndrome, along with the latest progress in growth hormone-dependent signaling pathways involved in short stature, one of the most frequent clinical manifestations. Chapters also address how patients with Noonan Syndrome undergo more than average surgical procedures and have a great bleeding risk. This must have reference for pediatric endocrinologists and practicing physicians will give them all the information they need on the topic. Provides an accessible, up-to-date overview of the characteristics, state-of-the-art diagnostic procedures, and management of Noonan syndrome Offers an important resource for physicians who see and treat individual symptoms, rather than a disease complex, covering the important characteristics in the presence of heart anomalies and perioperative considerations Reviews multidisciplinary and post-treatment management of the disease
Author: Stephen von Tetzchner
Publisher:
Published: 1998
Total Pages: 150
ISBN-13: 9788291198354
DOWNLOAD EBOOK →Author: John C. Carey
Publisher: John Wiley & Sons
Published: 2021-01-27
Total Pages: 1104
ISBN-13: 1119432677
DOWNLOAD EBOOK →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
Published: 2013-10-17
Total Pages: 415
ISBN-13: 1462514847
DOWNLOAD EBOOK →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: Martin Zenker
Publisher: Karger Medical and Scientific Publishers
Published: 2009
Total Pages: 178
ISBN-13: 3805586531
DOWNLOAD EBOOK →In this book, internationally recognized experts review the most important advances regarding the group of human developmental disorders caused by constitutive dysregulation of the Ras-MAPK signalling pathway, including Noonan, cardiofaciocutaneous, LEOPARD and Costello syndromes. A historical overview given by Jacqueline Noonan is followed by chapters dedicated to comprehensive clinical summaries of each condition and up-to-date reviews on associated gene mutations and molecular pathomechanisms. Genotypephenotype correlations are outlined. Further topics include the characterization and underlying mechanisms of common abnormalities in these syndromes such as growth failure, heart defects, and tumor risk. Animal models and the relation to neurofibromatosis type 1 are discussed. The final chapter covers the critical area of treatment including prospects emerging from an improved understanding of the pathophysiology of these disorders. Providing a concise overview of a very rapidly developing field and suggesting ways how to integrate the latest findings from basic molecular research into clinical practice, this book will be of interest to clinical geneticists, pediatricians, pediatric cardiologists, and pediatric endocrinologists, as well as to human molecular geneticists and other basic researchers working on the RAS pathway.
Author: Bruno Bissonnette
Publisher: McGraw-Hill Education / Medical
Published: 2006-08-10
Total Pages: 988
ISBN-13:
DOWNLOAD EBOOK →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: Dr. H. K. Saboowala.
Publisher: Dr.Hakim Saboowala
Published: 2024-05-26
Total Pages: 44
ISBN-13:
DOWNLOAD EBOOK →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
