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aspects is ample, but current clinical approaches, classification, diagnostic criteria and treatment protocols are outdated, creating difficulties in early diagnosis and treatment.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 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 Neurocutaneous Syndromes in Children written by Paolo Curatolo and published by John Libbey Eurotext. This book was released on 2006 with total page 247 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurocutaneous Syndromes unify a group of rare neurological disorders in which the initial identification depends on simple visual disgnosis. They include a large group of neurological disorders which feature cutaneous and ocular lesions, brain malformations, central and peripheral brain tumours, mental retardation, seizures and psychiatric problems. In the last few years, our knowledge of neurocutaneous syndromes has increased substantially. The aim of this volume is to provide an updated developmental perspective on these multifaceted conditions and to review their major clinical features, in particular their embryological basis, clinical molecular genetics, diagnostic protocols and novel therapeutic approaches.
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 Evidence based practice in Neuro oncology written by Supriya Mallick and published by Springer Nature. This book was released on 2021-07-24 with total page 423 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides evidence-based management in neuro-oncology covering all aspects such as pathology, radiology, surgery, radiation, and chemotherapy.The field of neuro-oncology is rapidly evolving and new evidence is coming out every day towards the optimal management of brain tumors. This necessitates a requirement of a complete guide that shall provide an evidence-based and personalized approach towards dealing with patients. This book also covers recent advances in personalized treatment formed through the relevant basis of anatomy, imaging, radiology, surgical, radiation and systemic treatment of brain and spinal tumors. In addition it also covers the , practical aspects of the planning of the Gamma knife and other radio surgical aspects. The book shall provide valuable assistance to practicing neuro-oncologists to practice better evidence-based personalized medicine.
Download or read book Primary Ear and Hearing Care Training Resource written by World Health Organization and published by World Health Organization. This book was released on 2006 with total page 24 pages. Available in PDF, EPUB and Kindle. Book excerpt: Although half of all deafness and hearing impairment is avoidable, an estimated 278 million people worldwide are living with disabling hearing impairment (moderate or worse level of hearing loss in the better hearing ear). Many more have mild hearing loss and/or ear diseases. One quarter of hearing impairment begins during childhood, and 80% of all deaf and hearing impaired people live in low and middle income countries. These problems can be life-long and sometimes life-threatening; they may have profound effects on: inter-personal communication, education, employment prospects, social relationships and through stigmatization. They produce substantial economic burdens on countries. Some of the most effective and cost-effective interventions against ear and hearing problems can be implemented at the primary level by trained primary ear and hearing care (PEHC) workers or primary health care (PHC) workers or their equivalents. Used on a large scale, these interventions will have a major impact on the burden of ear disease and hearing loss. However most developing countries do not have PEHC workers and the topic is hardly addressed in the training of PHC workers. The Primary Ear and Hearing Care Training Resource manuals provide practical information and guidance and can be used as part of a training course, stand-alone training module or in a self-taught manner. They are designed to be useful to a wide range of primary health care personnel. The manuals can also be used to help communities understand common causes of deafness and hearing impairment and ways to prevent and/or treat the conditions.
Download or read book Behavioural Phenotypes written by Gregory O'Brien and published by Cambridge University Press. This book was released on 1995 with total page 236 pages. Available in PDF, EPUB and Kindle. Book excerpt: A timely distillation of current thinking on the presentation of behavioural disorders and their origins.
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 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 Genomics and Models of Nerve Sheath Tumors written by Angela C. Hirbe and published by MDPI. This book was released on 2020-11-18 with total page 172 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nerve sheath tumors can be a significant cause of morbidity for many patients. These include benign tumors such as schwannomas, diffuse and plexiform neurofibromas, and atypical neurofibromas, as well as the aggressive soft tissue sarcoma known as the malignant peripheral nerve sheath tumor (MPNST). Nerve sheath tumors occur sporadically and in the context of the clinical neuro-genetic tumor predisposition syndromes neurofibromatosis type 1 (NF1) and type 2 (NF2). Historically, the mainstay of treatment for nerve sheath tumors has been surgery. However, for both benign and malignant nerve sheath tumors, there is a high recurrence rate, highlighting the pressing need for novel therapies. As we have entered the genomic era, the hope is that an improved understanding of the genetics, and therefore the biology, of these tumors will ultimately lead to therapies that result in better outcomes. In this Special Issue, we include both review articles and original research related to the genomic understanding and modeling of schwannomas, plexiform and diffuse neurofibromas, atypical neurofibromas, and malignant peripheral nerve sheath tumors as well as genomic methods being developed and applied to advance our understanding of these tumors.
Download or read book Neurofibromatosis written by Francesco Signorelli and published by BoD – Books on Demand. This book was released on 2020-05-20 with total page 122 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurofibromatosis, one of the most common genetic disorders, is a group of three conditions—Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis—that share some clinical features, such as the presence of cranial and spinal nerve sheet tumors. However, they differ in type of genetic disorder, age of clinical onset, manifestations, management and prognosis. Due to multisystem involvement, a multidisciplinary treatment approach that includes research is ideal. This book provides a systematic, comprehensive and updated outline of Neurofibromatosis. It is a useful reference for clinicians, researchers and students.
Download or read book Neurofibromatosis Diagnosis and Treatments written by Lee Roy Morgan and published by BoD – Books on Demand. This book was released on 2023-06-14 with total page 114 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book describes and discusses numerous new concepts and procedures for the diagnosis and management of all types of neurofibromatosis (NF). It includes five chapters that address numerous topics in the field, including the management of toxicities associated with NF treatment modalities. It provides useful information and data for both researchers and practitioners to develop new approaches for the management of NF.
Download or read book Autoimmune Thyroid Pathology Specificity of the Pediatric Age written by Malgorzata Gabriela Wasniewska and published by Frontiers Media SA. This book was released on 2021-03-10 with total page 118 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genetic Skin Disorders written by Virginia P. Sybert and published by Oxford University Press. This book was released on 2017-01-02 with total page 512 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fully revised and updated edition of GENETIC SKIN DISORDERS reflects the most current understanding of the diagnosis, treatment, genetic basis, and differential diagnoses of inherited skin disorders. Organized with the needs of busy clinicians in mind, it offers detailed clinical guidance on the signs, symptoms, mode of inheritance, recurrence risk, and diagnosis of over 300 skin disorders, all in an accessible, at-a-glance format. Annotated bibliographies highlight the most relevant and up-to-date medical literature. Newly compiled lists of support groups, both national and international, for patients and their families supplement the ample resources for medical professionals. Informed by the author's extensive clinical experience and suffused with a distinctive, witty voice, GENETIC SKIN DISORDERS is an ideal companion in the laboratory, clinic, or consulting room. FEATURES · Includes both disease-based chapters and an appendix of skin signs that simplifies differential diagnosis for specialists and general practitioners alike · More than 800 color photographs illustrate the full spectrum of hair, skin, and nail abnormalities · Updated to reflect current classification of inherited skin disorders and the molecular underpinnings of these conditions
Download or read book Brain and Spinal Tumors written by Lee Roy Morgan and published by BoD – Books on Demand. This book was released on 2020-01-29 with total page 278 pages. Available in PDF, EPUB and Kindle. Book excerpt: Numerous new concepts and procedures are reviewed and discussed in this book and allude to the transport of drugs to the brain. New radiation concepts are also presented, plus management of toxicities associated with both treatment modalities. It is the goal of this book to provide information and data that will be useful for both researchers and practitioners to develop new approaches for the management of CNS malignancies.
Download or read book Congenital Brain Malformations written by Khaled Fares AlAli and published by Springer Nature. This book was released on 2024 with total page 335 pages. Available in PDF, EPUB and Kindle. Book excerpt: Zusammenfassung: This book offers a clinical and surgical overview on congenital brain malformations, which are abnormalities that occur during fetal development, leading to brain defects and disorders. The fetal brain begins to develop shortly after conception and continues to grow throughout pregnancy. This book covers the various congenital brain malformations, their aetiologies and development, diagnosis and management including possible surgical interventions and details of these procedures. Since many of these disorders are rare, they do not have a final cure and their management is important - their consequences on the physical, psychological and developmental condition of the patient are great. This book is of interest to pediatric surgeons and neurologists
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.
