Genetic Evaluation Of Peripheral Nerve Sheath Tumors In Neurofibromatosis Type I
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| Author | : Gianluca Tadini |
| Publisher | : Springer Nature |
| Total Pages | : 316 |
| Release | : 2020-06-02 |
| Genre | : Medical |
| ISBN | : 3319924508 |
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aspects is ample, but current clinical approaches, classification, diagnostic criteria and treatment protocols are outdated, creating difficulties in early diagnosis and treatment.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.
| Author | : Meena Upadhyaya |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 711 |
| Release | : 2013-01-29 |
| Genre | : Medical |
| ISBN | : 3642328644 |
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.
| Author | : Bernd W. Scheithauer |
| Publisher | : American Registry of Pathology |
| Total Pages | : 444 |
| Release | : 1999 |
| Genre | : Medical |
| ISBN | : |
| Author | : |
| Publisher | : Elsevier |
| Total Pages | : 480 |
| Release | : 2018-01-29 |
| Genre | : Medical |
| ISBN | : 0444640770 |
Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses. - Contains comprehensive coverage of neurogenetics - Details the latest science and its impact on our understanding of neurological, psychiatric disorders - Presents a focused reference for clinical practitioners and the neuroscience/neurogenetics research community
| Author | : Patricia Treadwell |
| Publisher | : Springer Nature |
| Total Pages | : 112 |
| Release | : 2020-12-03 |
| Genre | : Medical |
| ISBN | : 3030586340 |
Valuable to dermatologists, adolescent medicine specialists, family medicine practitioners, and primary care physicians, the Atlas of Adolescent Dermatology presents a concise and practical guide to the diagnosis and management of adolescent skin diseases. Each chapter follows a similar format, to assist in ease of reference, and contains information on diagnosis and management. The various chapters include conditions such as Acne, Seborrheic Dermatitis, Eczema, Scabies, Contact Dermatitis, and selected Genodermatoses.
| Author | : Markku Miettinen |
| Publisher | : Cambridge University Press |
| Total Pages | : 1117 |
| Release | : 2010-06-14 |
| Genre | : Medical |
| ISBN | : 1139489402 |
This book comprehensively covers modern soft tissue pathology and includes both tumors and non-neoplastic entities. Soft tissues make up a large bulk of the human body, and they are susceptible to a wide range of diseases. Many soft-tissue tumors are biologically very aggressive, and the chance of them metastasizing to vital organs is quite high. In recent years, the outlook for soft-tissue cancers has brightened dramatically due to the increased accuracy of the pathologist's tools. All methods of diagnosis are covered here, with an emphasis on the newest immunoassays and other genetic, molecular, and immunologic diagnostic modalities. This book's systematic description of benign and malignant primary soft tissue tumors with didactic, comprehensive panels of illustrations allows the reader to formulate a complete understanding of the morphology of tumor entities at one glance. The book covers both the most common tumor entities and more unusual diseases using more than 1,500 color images, making it a resource for beginning and senior pathologists.
| Author | : Juerg Hodler |
| Publisher | : Springer Nature |
| Total Pages | : 293 |
| Release | : 2021 |
| Genre | : Musculoskeletal system |
| ISBN | : 3030712818 |
This open access book focuses on imaging of the musculoskeletal diseases. Over the last few years, there have been considerable advances in this area, driven by clinical as well as technological developments. The authors are all internationally renowned experts in their field. They are also excellent teachers, and provide didactically outstanding chapters. The book is disease-oriented and covers all relevant imaging modalities, with particular emphasis on magnetic resonance imaging. Important aspects of pediatric imaging are also included. IDKD books are completely re-written every four years. As a result, they offer a comprehensive review of the state of the art in imaging. The book is clearly structured with learning objectives, abstracts, subheadings, tables and take-home points, supported by design elements to help readers easily navigate through the text. As an IDKD book, it is particularly valuable for general radiologists, radiology residents, and interventional radiologists who want to update their diagnostic knowledge, and for clinicians interested in imaging as it relates to their specialty.
| Author | : H.A. Domanski |
| Publisher | : Karger Medical and Scientific Publishers |
| Total Pages | : 202 |
| Release | : 2017-07-27 |
| Genre | : Medical |
| ISBN | : 3318060771 |
Fine-needle aspiration cytology (FNAC) has been commonly used to follow up on previously treated sarcomas or to confirm soft tissue and bone metastases of carcinomas, melanomas or lymphomas. Its role as the first-line approach in the diagnosis of primary soft tissue and bone tumors has increased due to progress of less invasive diagnostic procedures and the growing availability of diagnostic ancillary tests. This comprehensive and richly-illustrated volume presents cytomorphology of all common neoplastic soft tissue and bone lesions but also of rare tumors largely described in case reports. Key points for cytological features, differential diagnosis, and the use of ancillary tests are discussed and illustrated in order to facilitate the diagnostic work-up in FNA samples. The volume is organized on the basis of the most recent WHO classification used in surgical pathology in order to provide a practical guide for modern cytologic diagnosis of surgical soft tissue and bone pathology. It is aimed mainly at surgical pathologists and cytopathologists, but also at orthopedic surgeons and clinical oncologists.
| Author | : Fernando Guedes |
| Publisher | : Springer Nature |
| Total Pages | : 380 |
| Release | : 2021-08-24 |
| Genre | : Medical |
| ISBN | : 3030776336 |
Tumors involving peripheral nerves may be extremely challenging lesions to diagnose and treat. In order to optimize their management, physicians should have a thorough knowledge of peripheral nerve anatomy and pathology (both gross and microscopic), as well as familiarity with microsurgical techniques and intraoperative neurophysiological recording. This compendium deals with all aspects of tumors affecting peripheral nerves, from diagnosis to treatment; the topics it addresses range from epidemiology, anatomy, physiology, pathology, and clinical diagnosis to electrophysiology, imaging, genetic/cytomolecular aspects. Surgical approaches, biopsies and resection of various benign, malignant and pseudo-tumoral lesions, plexus tumors (both brachial and lumbosacral), and adjunctive treatment modalities and pain-related issues are described in detail. The book is intended not only for neurosurgeons, hand surgeons, plastic and orthopedic surgeons new to the field, but also for seasoned specialists who wish to update their knowledge with new insights based on robust experimental and clinical material. In addition, it will be a helpful tool for general and oncological surgeons who are sometimes faced with the treatment of mass lesions that may be potential nerve tumors, and for all practitioners who are engaged in the arduous struggle to bring relief to patients affected by these lesions.
| Author | : Rosalie E Ferner |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 178 |
| Release | : 2011-09-05 |
| Genre | : Medical |
| ISBN | : 0857296299 |
Neurofibromatoses in Clinical Practice provides a succinct, accessible guide to the neurofibromatoses including diagnosis, management protocols and indications for referral to specialist centers. Neurocutaneous diseases are complex to diagnose and treat and many patients require specialist multidisciplinary management and surveillance. Due to multiple disease manifestations, patients can present to different clinicians without specialist expertise - general practitioners, pediatricians, neurologists, geneticists, surgeons and ophthalmologists. The clinically focused format will enable rapid consultation during clinics, facilitate disease pattern recognition, and indicate care pathways. The clinical quiz highlights common pitfalls in diagnosis and management and a glossary and reference section provide details for access to specialist NF clinics throughout the UK and internationally. Written by experts in the field Neurofibromatoses in Clinical Practice is a succinct and practical guide for consultants in training and practice, general practitioners and specialist nurses.
