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008			200602s2020 gw | s |||| 0|eng d
020			_a9783319924502
024	7		_a10.1007/978-3-319-92450-2 _2doi
040			_aES-MaUEC _bspa _cES-MaUEC _dES-MaUEC
050		4	_aRC280.N4 _b2020 EB
245	0	0	_aMultidisciplinary Approach to Neurofibromatosis Type 1 _cedited by Gianluca Tadini, Eric Legius, Hilde Brems.
250			_a1st ed. 2020.
264		1	_aCham _bSpringer International Publishing : _bImprint: Springer _c2020
300			_a1 recurso en línea (XII, 313 páginas) _b66 ilustraciones, 55 ilustraciones a color
336			_2rdacontent _aTexto _btxt
337			_2rdamedia _aelectrónico _bc
338			_2rdacarrier _arecurso electrónico _bcr
347			_atext file _bPDF _2rda
490	0		_aMedicine (Springer-11650)
505	0		_a1. Epidemiology of Neurofibromatosis Type 1 -- 2. Genetics and Pathway in Neurofibromatosis Type 1 -- 3. Molecular Diagnosis for NF1 -- 4. Diagnosis in NF1, Old and New -- 5. Clinical Features of NF1 in the Skin -- 6. Ocular Manifestations in Neurofibromatosis Type 1 -- 7. Skeletal Manifestations in NF1 -- 8. NF1 in Other Organs -- 9. Genomics of Peripheral Nerve Sheath Tumors Associated to Neurofibromatosis Type 1 -- 10. Mechanotransduction and Nf1 Loss--Partner in Crime: New Hints for Neurofibroma Genesis -- 11. Diagnosis and Management of Benign Nerve Sheath Tumors in NF1: Evolution from Plexiform to Atypical Neurofibroma and Novel Treatment Approaches -- 12. Diagnosis and Management of Malignant Tumors in NF1: Evolution from Atypical Neurofibromas to Malignant Peripheral Nerve Sheath Tumors and Treatment Options -- 13. Neurological Complications in NF -- 14. Learning Disabilities and Behavior in Neurofibromatosis Type 1 Patients -- 15. Mosaic NF1 -- 16. Legius Syndrome, Other Café -au-lait Diseases and Differential Diagnosis of NF1 -- 17. Cancer Risk and Spectrum in Individuals with RASopathies -- 18. Therapeutical Approaches for NF1 -- 19. Medical Follow up in Neurofibromatosis Type 1 -- 20. Brief Notes on Pregnancy, Prenatal Diagnosis and Preimplantation Procedures in NF1 -- 21. Proposal of New Diagnostic Criteria.
520	3		_aThis 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 treament. 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.
988			_aSpringer_Medicine_2020
650		7	_2embne _9675970 _aNeurofibromatosis
650		7	_2embne _9669296 _aSistema nervioso central _xCáncer
700	1		_aTadini, Gianluca. _eeditor. _4edt _4http://id.loc.gov/vocabulary/relators/edt _0http://id.loc.gov/authorities/names/n2006180346 _1http://viaf.org/viaf/2775306
700	1		_aLegius, Eric. _eeditor. _4edt _4http://id.loc.gov/vocabulary/relators/edt _1http://viaf.org/viaf/286962115
700	1		_aBrems, Hilde. _eeditor. _4edt _4http://id.loc.gov/vocabulary/relators/edt
710	2		_aSpringerLink (Online service) _0http://id.loc.gov/authorities/names/no2005046756 _1http://viaf.org/viaf/148105729
776	0	8	_iPrinted edition: _z9783319924496
776	0	8	_iPrinted edition: _z9783319924519
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-319-92450-2 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE
998			_b09/2020 _dz _eIG _zSI