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Neurofibromatosis Type 1 In Childhood
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Book Synopsis Neurocutaneous Syndromes in Children by : Paolo Curatolo
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.
Book Synopsis Neurofibromatosis Type 1 by : Meena Upadhyaya
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.
Book Synopsis Neurofibromatosis Type 1 in Childhood by : Kathryn North
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.
Book Synopsis Genetics of Endocrine Diseases and Syndromes by : Peter Igaz
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.
Book Synopsis Pediatric Neuro-oncology by : Katrin Scheinemann
Download or read book Pediatric Neuro-oncology written by Katrin Scheinemann and published by Springer Nature. This book was released on with total page 558 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Atlas of Pediatric Brain Tumors by : Adekunle M. Adesina
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 327 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.
Book Synopsis Neurofibromatosis by : Bruce R. Korf
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 Ugly written by Robert Hoge and published by Hachette Australia. This book was released on 2015-08-11 with total page 106 pages. Available in PDF, EPUB and Kindle. Book excerpt: A beaut story about one very ugly kid. Robert Hoge was born with a tumour in the middle of his face, and legs that weren't much use. There wasn't another baby like him in the whole of Australia, let alone Brisbane. But the rest of his life wasn't so unusual: he had a mum and a dad, brothers and sisters, friends at school and in his street. He had childhood scrapes and days at the beach; fights with his family and trouble with his teachers. He had doctors, too: lots of doctors who, when he was still very young, removed that tumour from his face and operated on his legs, then stitched him back together. He still looked different, though. He still looked ... ugly. UGLY is the true story of how an extraordinary boy grew up to have an ordinary life, and how that became his greatest achievement of all.
Book Synopsis Genetics of Bone Biology and Skeletal Disease by : Rajesh V. Thakker
Download or read book Genetics of Bone Biology and Skeletal Disease written by Rajesh V. Thakker and published by Academic Press. This book was released on 2017-10-31 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. - Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments - Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders - Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder
Book Synopsis Neurology in Clinical Practice by : Walter George Bradley
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.
Book Synopsis Pediatric Ultrasound by : Michael Riccabona
Download or read book Pediatric Ultrasound written by Michael Riccabona and published by Springer Nature. This book was released on 2020-10-15 with total page 549 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, now in a revised and updated second edition, systematically covers the use of ultrasound in all organ systems throughout childhood. After discussing the basics, including physics, ultrasound methods, and artifacts, it elucidates decision-making regarding the use of ultrasound by discussing diagnostic flow charts based on recommended imaging algorithms. The main part of the book addresses ultrasound investigations of the various organs. It documents the indications and prerequisites for specific examinations and offers practical tips and tricks. The normal, age-dependent ultrasound findings and typical appearances in different pathologies are presented in detail and illustrated by numerous high-quality images, with a particular emphasis on those findings that differ from the adult sonographic appearances. And finally, dedicated chapters explore point-of-care and emergency ultrasound, interventional ultrasound, and present orienting tables. This state-of-the-art book covers modern techniques and applications, like contrast-enhanced ultrasound, ultrasound elastography, and automated-image optimization, as well as all pediatric ultrasound applications from point-of-care ultrasound and orienting assessment also at the intensive care unit/emergency room to more detailed and advanced applications, e.g., in dedicated tertiary referral centers. Pediatric Ultrasound is an invaluable source of information and an indispensable aid to decision-making and diagnosis for radiology residents, (pediatric) radiologists, sonographers, pediatricians, (pediatric) surgeons, urologists, and all other physicians who deal with children as a part of their daily practice.
Book Synopsis Motor Skills and Their Foundational Role for Perceptual, Social, and Cognitive Development by : Klaus Libertus
Download or read book Motor Skills and Their Foundational Role for Perceptual, Social, and Cognitive Development written by Klaus Libertus and published by Frontiers Media SA. This book was released on 2017-05-18 with total page 295 pages. Available in PDF, EPUB and Kindle. Book excerpt: Motor skills are a vital part of healthy development and are featured prominently both in physical examinations and in parents’ baby diaries. It has been known for a long time that motor development is critical for children’s understanding of the physical and social world. Learning occurs through dynamic interactions and exchanges with the physical and the social world, and consequently movements of eyes and head, arms and legs, and the entire body are a critical during learning. At birth, we start with relatively poorly developed motor skills but soon gain eye and head control, learn to reach, grasp, sit, and eventually to crawl and walk on our own. The opportunities arising from each of these motor milestones are profound and open new and exciting possibilities for exploration and interactions, and learning. Consequently, several theoretical accounts of child development suggest that growth in cognitive, social, and perceptual domains are influences by infants’ own motor experiences. Recently, empirical studies have started to unravel the direct impact that motor skills may have other domains of development. This volume is part of this renewed interest and includes reviews of previous findings and recent empirical evidence for associations between the motor domain and other domains from leading researchers in the field of child development. We hope that these articles will stimulate further research on this interesting question.
Book Synopsis Textbook of Pediatric Neurosurgery by : Concezio Di Rocco
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.
Book Synopsis Diagnosis, Management and Modeling of Neurodevelopmental Disorders by : Colin R Martin
Download or read book Diagnosis, Management and Modeling of Neurodevelopmental Disorders written by Colin R Martin and published by Academic Press. This book was released on 2021-05-29 with total page 628 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diagnosis, Management and Modeling of Neurodevelopmental Disorders: The Neuroscience of Development is a comprehensive reference on the diagnosis and management of neurodevelopment and associated disorders. The book discusses the mechanisms underlying neurological development and provides readers with a detailed introduction to the neural connections and complexities in biological circuitries, as well as the interactions between genetics, epigenetics and other micro-environmental processes. In addition, the book also examines the pharmacological and non-pharmacological interventions of development-related conditions. - Provides the most comprehensive coverage of the broad range of topics relating to the neuroscience of aging - Features sections on the genetics that influences aging and diseases of aging - Contains an abstract, key facts, a mini dictionary of terms, and summary points in each chapter - Focuses on neurological diseases and conditions linked to aging, environmental factors and clinical recommendations - Includes more than 500 illustrations and tables
Book Synopsis The Kidscreen Questionnaires by : Ulrike Ravens-Sieberer
Download or read book The Kidscreen Questionnaires written by Ulrike Ravens-Sieberer and published by . This book was released on 2006 with total page 231 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author :National Academies of Sciences Engineering and Medicine Publisher : ISBN 13 :9780309683494 Total Pages : pages Book Rating :4.6/5 (834 download)
Book Synopsis Childhood Cancer and Functional Impacts Across the Care Continuum by : National Academies of Sciences Engineering and Medicine
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.
Book Synopsis Comprehensive Guide to Autism by : Vinood B. Patel
Download or read book Comprehensive Guide to Autism written by Vinood B. Patel and published by Springer. This book was released on 2013-10-15 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism is a complex multifaceted disorder affecting neurodevelopment during the early years of life and, for many, throughout the life span. Inherent features include difficulties or deficits in communication, social interaction, cognition, and interpersonal behavioral coordination, to name just a few. Autism profoundly impacts the affected individual, the family, and, in many cases, the localized communities. The increased prevalence of childhood autism has resulted in rapid developments in a wide range of disciplines in recent years. Nevertheless, despite intensive research, the cause(s) remain unresolved and no single treatment strategy is employed. To address these issues, Comprehensive Guide to Autism is an all-embracing reference that offers analyses and discussions of contemporary issues in the field of autism. The work brings together scientific material from leading experts in the field relating to a wide range of important current topics, such as the early identification and treatment of children with autism, pertinent social and behavioral studies, recent developments in genetics and immunology, the influence of diet, models of autism, and future treatment prospects. Comprehensive Guide to Autism contains essential readings for behavioral science researchers, psychologists, physicians, social workers, parents, and caregivers.
