Multidisciplinary Approach To Neurofibromatosis Type 1

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Multidisciplinary Approach To Neurofibromatosis Type 1

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Author : Gianluca Tadini
language : en
Publisher: Springer Nature
Release Date : 2020-06-02

Multidisciplinary Approach To Neurofibromatosis Type 1 written by Gianluca Tadini and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-06-02 with Medical categories.

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aspects is ample, but current clinical approaches, classification, diagnostic criteria and treatment protocols are outdated, creating difficulties in early diagnosis and treatment.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.

Neurofibromatosis Type 1

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Author : Meena Upadhyaya
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-01-29

Neurofibromatosis Type 1 written by Meena Upadhyaya and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-01-29 with Medical categories.

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.

Oxford Textbook Of Neurological Surgery

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Author : Ramez Kirollos
language : en
Publisher: Oxford University Press, USA
Release Date : 2019-09-05

Oxford Textbook Of Neurological Surgery written by Ramez Kirollos and has been published by Oxford University Press, USA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-09-05 with Medical categories.

Neurosurgery is a rapidly developing and technically demanding branch of surgery that requires a detailed knowledge of the basic neuro-sciences and a thorough clinical approach. The Oxford Textbook of Neurological Surgery is an up-to-date, objective and readable text that covers the full scope of neurosurgical practice. It is part of the Oxford Textbooks in Surgery series, edited by Professor Sir Peter Morris. The book is split into 20 overarching sections (Principles of Neurosurgery, Neuro-oncology of Intrinsic Tumours; Extra-axial Tumours and Skull Lesions; Cerebro-Pontine Angle Tumours; Sellar and Supra-Sellar Tumours; Posterior Fossa Tumours; Pineal tumours; Uncommon Tumours and Tumour Syndromes; Neurotrauma and Intensive Care; Vascular Neurosurgery; Principles of Spinal Surgery; Spinal Pathology; Spinal Trauma; Peripheral Nerve Surgery; Functional Neurosurgery; Epilepsy; Paediatric Neurosurgery; Neurosurgery for Cerebrospinal Fluid Disorders and Neurosurgical Infection). Each section takes a dual approach with, 'Generic Surgical Management' chapters that focus on specific clinical problems facing the neurosurgeon (e.g. sellar/supra-sellar tumour, Intradural Spina Tumours etc.) and 'Pathology-Specific' chapters (e.g. Glioma, Meningeal Tumours, Scoliosis and Spinal Deformity, Aneurysm etc.). Where appropriate, this division provides the reader with easily accessible information for both clinical problems which present in a regional fashion and specific pathologies. The generic chapters cover aspects such as operative approaches, neuroanatomy and nuances. Specifically each chapter in the book incorporates several strands. Firstly the fundamental neuroscience (anatomy, pathology, genetics etc.) that underlies the clinical practice. Secondly, a review of the requisite clinical investigations (e.g. angiography, electrodiagnostics, radiology). Thirdly, a thorough evidence based review of clinical practice. Following this a consideration of the key debates and controversies in the field with 'pro-' and 'con-' sections (e.g. minimally invasive spine surgery, microsurgical treatment of aneurysms) is provided. A summary of the key papers and clinical scales relevant to neurosurgery form the concluding part. The book is a 'one-stop' text for trainees and consultants in neurosurgery, residents, those preparing for sub-specialty exams and other professionals allied to surgery who need to gain an understanding of the field. It acts as both a point of reference to provide a focussed refresher for the experienced neurosurgeon as well as a trusted training resource.

Textbook Of Pediatric Neurosurgery

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Author : Concezio Di Rocco
language : en
Publisher: Springer
Release Date : 2020-07-14

Textbook Of Pediatric Neurosurgery written by Concezio Di Rocco and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-07-14 with Medical categories.

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.

Neurocutaneous Syndrome In Development Age

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Author : Paolo CURATOLO
language : en
Publisher: John Libbey Eurotext
Release Date : 2006-01-01

Neurocutaneous Syndrome In Development Age written by Paolo CURATOLO and has been published by John Libbey Eurotext this book supported file pdf, txt, epub, kindle and other format this book has been release on 2006-01-01 with Medical categories.

Neurocutaneous syndromes unify a group of rare neurological disorders in which the initial identification depends on simple visual diagnosis. They include a large group of neurological disorders (neurofibromatosis type I, tuberous sclerosis complex, Sturge-Weber Syndrome, Von Hippel Lindau syndrome, hypomelanosis of Ito, and others) which feature cutaneous and ocular lesions, brain malformations, central and peripheral brain tumours, mental retardation, seizures, and psychiatric problems. In the past few years our knowledge of neurocutaneous syndromes has increased dramatically. Detailed information about the clinical features, natural history, and management of these complex multisystem disorders, and new data on the genetics of these conditions, has provided insight into their classification, pathophysiology, molecular biology, and genotype–phenotype correlations.

Type 1 Diabetes

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Author : Ian Gallen
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-03-17

Type 1 Diabetes written by Ian Gallen and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-03-17 with Biography & Autobiography categories.

There has been a recent surge of new data on the subject of exercise and sport in type I diabetes, as well as great interest from the multidisciplinary healthcare teams looking after such patients. Providing advice and support to enable athletes to manage their diabetes during and after sport is an essential part of diabetes care. Type I Diabetes: Clinical Management of the Athlete outlines best practice and scientific progress in the management of people with type I diabetes who undertake a sport at any level. The book explores endocrine response to exercise, hypoglycemia and dietetics in the diabetic patient, and provides real-life examples of type I diabetes management at the professional athlete level. It is the first source of reference for specialists in diabetes when seeking advice on how to manage their patient and provides practical advice for equipping the type I diabetes patient with the ability to fulfill their sporting potential.

Pheochromocytoma Pheo And Paraganglioma Pgl

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Author : Karel Pacak
language : en
Publisher: MDPI
Release Date : 2019-11-20

Pheochromocytoma Pheo And Paraganglioma Pgl written by Karel Pacak and has been published by MDPI this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-11-20 with Medical categories.

This book outlines some new advances in genetics, clinical evaluation, localization, therapy (newly including immunotherapy) of pheochromocytoma and paraganglioma including their metastatic counterparts. Well-known and experienced clinicians and scientists contributed to this book to include some novel approaches to these tumors. This book will serve to various health care professionals from different subspecialties, but mainly oncologists, endocrinologists, endocrine surgeons, pediatricians, and radiologists. This book shows that the field of pheochromocytoma/paraganglioma is evolving and a significant progress has been made in last 5 years requiring that health care professionals and scientists will learns new information and implement it in their clinical practice or scientific work, respectively. This book should not be missed by anybody who is focusing on neuroendocrine tumors, their newest evaluation and treatment.

Genomics And Models Of Nerve Sheath Tumors

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Author : Angela C. Hirbe
language : en
Publisher: MDPI
Release Date : 2020-11-18

Genomics And Models Of Nerve Sheath Tumors written by Angela C. Hirbe and has been published by MDPI this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-11-18 with Science categories.

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.

Neurofibromatosis

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Author : Francesco Signorelli
language : en
Publisher: BoD – Books on Demand
Release Date : 2020-05-20

Neurofibromatosis written by Francesco Signorelli and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-05-20 with Medical categories.

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.

Neurofibromatosis Diagnosis And Treatments

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Author : Lee Roy Morgan
language : en
Publisher: BoD – Books on Demand
Release Date : 2023-06-14

Neurofibromatosis Diagnosis And Treatments written by Lee Roy Morgan and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-06-14 with Medical categories.

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.