Download or read book Neurofibromatosis Type 1 in Childhood written by Kathryn North and published by Cambridge University Press. This book was released on 1997-01-30 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt: A thoughtful and clinically valuable account which will aid both treatment of and research into this difficult disorder.
Download or read book The Neurofibromatoses written by and published by . This book was released on 1995 with total page 12 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Neurofibromatosis Type I written by Senior Lecturer in Medical Genetics David N Cooper, Dr and published by Academic Press. This book was released on 1998-05 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurofibromatosis type 1 (NF1) is one of the most common dominantly inherited neurogenetic disorders. Affecting 1 in 4000 individuals worldwide. Symptoms include facial and body disfigurement, mental retardation and abnormalities of the cardiovascular, renal and endocrine systems. This book is written for a broad readership ranging from students to professionals. It provides the reader with a basic overview of the disease before discussing the most recent research and therapeutic developments in detail. It is essential reading for medical geneticists, molecular biologists, dermatologists, oncologists, neurologists, genetic counsellors, general practitioners and research students. The volume attempts to cover clinical aspects of the disease; gene structure, expression and mutation; structural and functional aspects of the encoded protein, neurofibromin; the role of the "NF1"gene as a tumour suppressor, the emerging genotype-phenotype relationship for NF1, animal models of the disease and future prospects for disease treatment and prevention.
Download or read book Neurofibromatosis Type 1 written by Meena Upadhyaya and published by Springer Science & Business Media. This book was released on 2013-01-29 with total page 711 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide. This book presents in concise fashion, but as comprehensively as possible, our current state of knowledge on the molecular genetics, molecular biology and cellular biology of this tumour predisposition syndrome. Written by internationally recognized experts in the field, the 44 chapters that constitute this edited volume provide the reader with a broad overview of the clinical features of the disease, the structure and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the structure and function of its protein product (neurofibromin), NF1 modifying loci, the molecular pathology of NF1-associated tumours, animal models of the disease, psycho-social aspects and future prospects for therapeutic treatment.
Download or read book Multidisciplinary Approach to Neurofibromatosis Type 1 written by Gianluca Tadini and published by Springer Nature. This book was released on 2020-06-02 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume offers an update of the clinical signs, diagnostic criteria (including molecular diagnosis) and targeted therapies for a particular type of genodermatosis, providing a handy and unique tool for early diagnosis. In recent years, our understanding of genodermatosis and neurocutaneous syndromes has increased, but although Type 1 Neurofibromatosis (NF1) is the most common neuroectodermal disorder and involves a large number of patients and medical disciplines, this syndrome remains underestimated, often misdiagnosed thus leading to inaccurate treatment. The literature on the molecular and pathogenetic aspects is ample, but current clinical approaches, classification, diagnostic criteria and treatment protocols are outdated, creating difficulties in early diagnosis and treatment. As such, a chapter is devoted renewing current diagnostic criteria; it includes clinical and molecular data, to offer a sound, updated discussion basis for a consensus conference. NF1 is a “time-dependent” disorder, meaning that the onset of clinical signs are closely linked to patient age and the book discusses this particularly neglected aspect extensively, as well as the latest molecular diagnosis techniques, which are highly sensitive have not been included in the diagnostic criteria. It also explains the role of the RAS-MAPK pathway and genotype-phenotype correlations. In addition it explores new concepts concerning the pathogenesis of neurofibromas and other hamarthomas and their relevance for a modern therapeutical approach with targeted molecular drugs, as well as newly discovered aspects of NF1 in all internal organs, together with their diagnostic counterparts. A chapter on mosaic neurofibromatosis is also included. There is a particular focus on differential diagnosis (i.e. other diseases with café-au-lait macules), and the recently described Legius syndrome will be presented directly by Prof Eric Legius. All chapters are easy-to-understand, up-to-date, comprehensive and concise tools and are intended for a wide range of professionals involved with genetic disorders of the skin and neurocutaneous diseases: dermatologists, pediatricians, neurologists, oncologists and general practitioners.
Download or read book Helping Your Nf1 Child written by Christopher Maloney and published by Createspace Independent Publishing Platform. This book was released on 2017-01-22 with total page 54 pages. Available in PDF, EPUB and Kindle. Book excerpt: For the parents of NF1 children or newly diagnosed adults, Dr. Maloney covers the genetics of NF1 simply. He shows why the disease varies so widely in its symptoms and gives cutting edge research possibilities for its treatment.
Download or read book Neurofibromatosis written by Vincent M. Riccardi and published by . This book was released on 1992 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Atlas of Pediatric Brain Tumors written by Adekunle M. Adesina and published by Springer. This book was released on 2016-10-03 with total page 349 pages. Available in PDF, EPUB and Kindle. Book excerpt: This text was created to fill a void in the practice of pediatric neuropathology. It is a practical and well-illustrated book representing a collection of interesting, common and unusual tumors for a diagnostic exercise by the reader. The wide reception of the first edition by the pathology community is testament to its relevance and utility in the pathologic diagnosis of pediatric brain tumors. This edition covers topics ranging from neuroimaging, the use of crush and touch preps during intraoperative consultation, classic histological features of pediatric brain tumors, tumor variants, and a miscellaneous group of challenging tumors. Chapters consist of essential diagnostic information and features highlighting recognized variants and their differential diagnoses. A section on molecular pathology and electron microscopy is also included for each tumor category, along with a list of classic reviews and innovative articles on each of the tumor entities as suggested reading at the end of each chapter. Atlas of Pediatric Brain Tumors, Second Edition represents the state of the art in pediatric neuropathology with easy utility beside the microscope.
Download or read book Genetics of Endocrine Diseases and Syndromes written by Peter Igaz and published by Springer Nature. This book was released on 2019-10-06 with total page 476 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.
Download or read book Neurology in Clinical Practice written by Walter George Bradley and published by . This book was released on 2004 with total page 1672 pages. Available in PDF, EPUB and Kindle. Book excerpt: New edition, completely rewritten, with new chapters on endovascular surgery and mitochrondrial and ion channel disorders.
Download or read book Neurofibromatosis written by Bruce R. Korf and published by Thieme. This book was released on 2011-01-01 with total page 268 pages. Available in PDF, EPUB and Kindle. Book excerpt: Here is the state-of-the-art on recognizing, managing and living with neurofibromatosis (NF) for patients, families, and health care professionals. From new genetic and diagnostic advances, to associated cardiovascular and endocrine abnormalities, to the significant psychosocial impact of NF, the book is packed with clear, practical guidance for understanding and living with this disability.Special features: A complete diagnostic guide to help you recognize NF-related symptoms--with a timeline for when they might appear New treatment options for NF, including pain control Coverage of the newly discovered form of NF, schwannomatosis Personal perspectives from NF patients and their families Glossary that defines medical terminology With the great diagnostic and treatment advances achieved in the last decade, and research proceeding rapidly, the future for patients with NF has never been brighter. For all individuals living with the challenges of this disability, the book brings you to the forefront of medical knowledge. Make sure it is within close reach for fast and easy reference.
Download or read book Textbook of Pediatric Neurosurgery written by Concezio Di Rocco and published by Springer. This book was released on 2020-07-14 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book documents the state of the art in pediatric neurosurgery with the intention of providing a comprehensive guide to the management of the full range of pediatric neurosurgical disorders that will aid in the delivery of optimal care. Detailed practical instruction, taking into account recent advances, is provided on the neurosurgical treatment of congenital brain malformations, cerebrovascular diseases, head injuries and spinal trauma, infections, functional disorders, congenital and developmental spinal disorders, and brain and spinal tumors. Pearls and pitfalls are highlighted, and attention drawn to the most useful tips and tricks. Information is also included on relevant related topics, including the principles of neuroimaging, the physiological responses of newborns, infants, and children to neurosurgical trauma, preoperative evaluation, anesthesiology and intensive care, and other forms of therapy. The authors are renowned experts in the field, and the text is supported by a wealth of high-quality images. Handbook of Pediatric Neurosurgery will be of value for neurosurgeons of all levels of experience, as well as for pediatricians, neuroradiologists, neuropathologists, and neuro-oncologists.
Download or read book Pediatric Neuro oncology written by Katrin Scheinemann and published by Springer. This book was released on 2024-08-27 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: While the first edition of this book provided a succinct introduction to pediatric neuro-oncology, biological knowledge of childhood CNS tumors has “exploded” over the past few years and a new edition of this textbook is needed to keep it up-to-date. This updated edition will include chapters on cancer predisposition in children with brain tumors, gliomas, embryonal brain tumors, ependymoma, CNS-GCT, targeted therapies in pediatric brain tumors, and long-term sequelae. New developments covered include the following: - Techniques like DNA methylation have improved the diagnostic process, and have led to an integrated diagnosis of histology, ICH and methylation. - Tumor pathways have been detected, which defines more subgroups within a tumor entity, and results in more individualized treatment for the patient. - Therapeutic options outside the standard combination of surgery, chemotherapy, and radiation have either been implemented within the last years, or are currently under consideration. This book will be aimed at pediatric oncologists and neurooncologists, neurosurgeons, radiation oncologists. Chapters detailing quality of life and supportive care will make this 2nd edition a useful resource for nurses, social workers, physiotherapists, and occupational therapists alike.
Download or read book Symptom Based Diagnosis in Pediatrics CHOP Morning Report written by Samir S. Shah and published by McGraw Hill Professional. This book was released on 2014-01-03 with total page 544 pages. Available in PDF, EPUB and Kindle. Book excerpt: A CASE-BASED GUIDE TO PEDIATRIC DIAGNOSIS, CONVENIENTLY ORGANIZED BY PRESENTING SYMPTOMS Symptom-Based Diagnosis in Pediatrics features 19 chapters, each devoted to a common pediatric complaint. Within each chapter, five to eight case presentations teach the diagnostic approach to the symptom. The case presentations follow a consistent outline of History, Physical Examination, and Course of Illness, and are followed by discussion of the Differential Diagnosis, Diagnosis Incidence and Epidemiology, Clinical Manifestations, Diagnostic Approach, and Treatment. Cases are illustrated with vibrant full-color photographs and include numerous tables comparing potential diagnoses. Organized by symptoms--the way patients actually present More than 100 cases teach the diagnostic approach to a symptom Cases illustrate how the same complaint can have a variety of causes Full-color clinical photos and illustrations sharpen your visual diagnosis skills Valuable tables detail the most frequent causes of common symptoms CASE-BASED COVERAGE OF THE SYMPTOMS YOU'RE MOST LIKELY TO ENCOUNTER IN PEDIATRIC PRACTICE Wheezing * Decreased Activity Level * Vomiting * Coughing * Back, Joint, and Extremity Pain * Poor Weight Gain * Abdominal Pain * Altered Mental Status * Rash * Pallor * Fever * Constipation * Neck Swelling * Chest Pain * Jaundice * Abnormal Gait * Diarrhea * Syncope * Seizures Editors Samir S. Shah, MD, MSCE is Director, Division of Hospital Medicine, James M. Ewell Endowed Chair, and Attending Physician in Hospital Medicine & Infectious Diseases at Cincinnati Children’s Hospital Medical Center; and Professor in the Department of Pediatrics at the University of Cincinnati College of Medicine. Stephen Ludwig, MD is Chairman of the Graduate Medical Education Committee and Continuing Medical Education Committee and an attending physician in general pediatrics at The Children's Hospital of Philadelphia; and Emeritus Professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania.
Download or read book Childhood Cancer and Functional Impacts Across the Care Continuum written by National Academies of Sciences Engineering and Medicine and published by . This book was released on 2021-09-09 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Since the late 1960s, the survival rate in children and adolescents diagnosed with cancer has steadily improved, with a corresponding decline in the cancer-specific death rate. Although the improvements in survival are encouraging, they have come at the cost of acute, chronic, and late adverse effects precipitated by the toxicities associated with the individual or combined use of different types of treatment (e.g., surgery, radiation, chemotherapy). In some cases, the impairments resulting from cancer and its treatment are severe enough to qualify a child for U.S. Social Security Administration disability benefits. At the request of Social Security Administration, Childhood Cancer and Functional Impacts Across the Care Continuum provides current information and findings and conclusions regarding the diagnosis, treatment, and prognosis of selected childhood cancers, including different types of malignant solid tumors, and the effect of those cancers on childrenâ (TM)s health and functional capacity, including the relative levels of functional limitation typically associated with the cancers and their treatment. This report also provides a summary of selected treatments currently being studied in clinical trials and identifies any limitations on the availability of these treatments, such as whether treatments are available only in certain geographic areas.
Download or read book Ferri s Clinical Advisor 2021 written by Fred F. Ferri and published by Elsevier Health Sciences. This book was released on 2020-06-10 with total page 4158 pages. Available in PDF, EPUB and Kindle. Book excerpt: Find fast answers to inform your daily diagnosis and treatment decisions! Ferri’s Clinical Advisor 2021 uses the popular "5 books in 1" format to deliver vast amounts of information in a clinically relevant, user-friendly manner. This bestselling reference has been significantly updated to provide you with easy access to answers on 1,000 common medical conditions, including diseases and disorders, differential diagnoses, clinical algorithms, laboratory tests, and clinical practice guidelines—all carefully reviewed by experts in key clinical fields. Extensive algorithms, along with hundreds of new figures and tables, ensure that you stay current with today's medical practice. Contains significant updates throughout, covering all aspects of current diagnosis and treatment. Features 27 all-new topics including chronic rhinosinusitis, subclinical brain infarction, reflux-cough syndrome, radiation pneumonitis, catatonia, end-stage renal disease, and genitourinary syndrome of menopause, among others. Includes new appendices covering common herbs in integrated medicine and herbal activities against pain and chronic diseases; palliative care; and preoperative evaluation. Offers online access to Patient Teaching Guides in both English and Spanish.
Download or read book Clinical and Basic Aspects of Neurofibromatosis Type 1 written by Juichiro Nakayama and published by BoD – Books on Demand. This book was released on 2022-02-23 with total page 144 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a major monogenic neurocutaneous disorder. The NF1 gene encodes the protein neurofibromin whose dysfunction promotes tumorigenesis in central and peripheral neuronal tissues. In addition to inducing the formation of cutaneous pigmented lesions or neurofibromas, NF1 affects multiple organ systems, resulting in neurological and psychiatric disorders, orthopedic conditions, and impaired endocrine functions. This book examines the fundamental, clinical, and basic aspects of NF1 over three sections and nine chapters. Topics addressed include bone lesions in children with NF1, diffuse neurofibromatous tissue, seizures in adults with NF1, Ras-GAP function of neurofibromin, endocrine disorders characteristic of NF1, and more.
