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This book offers a comprehensive review of Lynch Syndrome (LS), addressing both the basic and clinical aspects of this condition. Due to the recent advances in our understanding of the genetic mechanism of LS, and to new screening methods, including universal screening and/or multi-gene panel analysis, the standard treatment strategy for patients and family members of LS have been steadily improving. In this book, experts describe the disease’s manifestations, discuss state-of-the-art diagnosis and management options, and offer a cutting-edge overview of the genetic and epigenetic basis of the syndrome. Providing essential insights into this new phase in the management of LS, this book is a valuable resource not only for colorectal surgeons, but also for general gastrointestinal clinicians, gynecologists, oncologists and all basic researchers with an interest in LS.

Cancer --- Genetic aspects. --- Cancer genetics --- Cancer genes --- Oncology  . --- Rectum—Surgery . --- Gastroenterology . --- Oncology. --- Colorectal Surgery. --- Gastroenterology. --- Internal medicine --- Digestive organs --- Tumors --- Diseases --- Càncer colorectal --- Malalties hereditàries --- Oncologia --- Medicina --- Oncologia geriàtrica --- Oncologia pediàtrica --- Oncologia veterinària --- Càncer --- Infermeria oncològica --- Genopaties --- Herència patològica --- Malalties congènites --- Malalties genètiques --- Malalties genotípiques --- Trastorns congènits --- Trastorns genètics --- Malalties --- Amiotròfia neural progressiva de Charcot-Marie-Tooth --- Corea de Huntington --- Errors congènits del metabolisme --- Esferocitosi hereditària --- Facomatosis --- Fibrosi quística --- Hemofília --- Malaltia de von Willebrand --- Síndrome d'Aicardi-Goutières --- Síndrome de Noonan --- Genètica mèdica --- Patologia molecular --- Càncer de còlon --- Càncer de recte --- Càncer gastrointestinal --- Colorectal Neoplasms, Hereditary Nonpolyposis. --- Chemoprevention.

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En toch glimlacht hij. Ondanks de teleurstelling glimlacht hij minzaam. Nauwelijks twaalf levensjaren jong slaagt hij er telkens in grootser te zijn dan wij. Hij glimlacht en ik ben hem mateloos dankbaar voor zoveel vergevingsgezindheid.'Pas op,' zegt de moeder, 'je zal ons deze zomer nog vaak zien. Je geraakt van ons niet meer af.' En ik lach om zoveel schoonheid en toekomst.Precies elf dagen later is hij dood.Eva De Wit is vrijwilligster op de kinderafdeling in ziekenhuis Gasthuisberg te Leuven. Ze begeleidt er Tobias, een jongen van twaalf die leukemie heeft en uiteindelijk zal overlijden. In Tobias, de leukemieman schrijft ze hem opnieuw tot leven en gaat ze op zoek naar zijn spoor, in zichzelf en in wie hem omringde. Zo ontvouwt zich ook het verhaal van de ouders, van het vriendinnetje, van de arts... Het afscheid is wat hen op unieke wijze verbindt.Tobias, de leukemieman is een ontmoeting met het sterke en het kwetsbare in de mens, met de broosheid der dingen, met dat wat ons overstijgt en dat wat ons samenhoudt; aangrijpend, ontroerend, zoals wij mensen zijn. Het boek raakt door de heldere kijk die het op het leven biedt en door de warme personages. Eva De Wit trekt het verhaal open tot iets universelers dan alleen het verhaal van dat ene jongetje.

253:362.1 --- Pastoraal voor zieken, ouderen en stervenden --- 253:362.1 Pastoraal voor zieken, ouderen en stervenden --- Provincie West-Vlaanderen --- 960 --- gezondheid van het kind --- kanker --- levensbeschrijvingen --- biographies et mémoires --- BPB2306 --- maladie du sang --- témoignage --- testemunho --- pierādījums --- tanúvallomás --- сведочење --- svedecká výpoveď --- liudytojo parodymai --- vidneudsagn --- testimonio --- výslech svědka --- świadek --- mărturie în instanță --- todistus --- tunnistus --- μαρτυρία --- evidence --- getuigenverklaring --- показание на свидетел --- Zeugenaussage --- evidenza għall-awditjar --- fianaise --- svjedočenje --- показ --- prova --- testimonianza --- pričanje --- vittnesmål --- Zeuge --- testigo --- vittne --- μάρτυρας --- martor --- liecinieks --- изјава на сведок --- svedok --- witness --- testemunha --- lietisks pierādījums --- vidne --- svědek --- сведок --- getuige --- tanú --- témoin --- tunnistaja --- iskaz svjedoka --- liecība --- getuigenis --- todistaja --- svědectví --- svjedok --- teste --- материјален доказ --- vidneforklaring --- parodymai prisiekus --- testimone --- testimony --- liudytojas --- ütlus --- dëshmi --- svedectvo --- todistajanlausunto --- сведоштво --- vérbetegség --- krvna bolest --- kraujo liga --- blood disease --- boli ale sângelui --- ασθένεια του αίματος --- galar fola --- болест на кръвта --- blodsjukdom --- blodsygdom --- Blutkrankheit --- sëmundje gjaku --- malattia del sangue --- choroby krwi --- verehaigus --- enfermedad de la sangre --- doença do sangue --- krvné ochorenie --- krvna bolezen --- veritauti --- krevní onemocnění --- marda tad-demm --- asins slimības --- bloedziekte --- болест крви --- крвна болест --- Leukämie --- hemofilija --- hemofili --- hemofilia --- leucémie --- leikoze --- leukeemia --- baltakraujystė --- leukæmi --- анемија --- blödarsjuka --- хемотолошка болест --- λευχαιμία --- emofilia --- leukemi --- Bluterkrankung --- leukemia --- leukaemia --- leucemia --- enfermedad sanguínea --- леукемија --- haemophilia --- kraujo nekrešumas --- hæmofili --- hemofiilia --- порфирија --- haematopathia --- хемофилија --- hemofília --- fehérvérűség --- leukemie --- αιμορροφιλία --- blødersygdom --- hémophilie --- αιμοφιλία --- leucocitemia --- leukémia --- leukemija --- hemofilie --- leucemie --- leucocitosis

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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 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.

Neurofibromatosis. --- Recklinghausen's disease --- Von Recklinghausen's disease --- Neurofibroma --- Phakomatoses --- Dermatology. --- Pediatrics. --- Human genetics. --- Neurology . --- Oncology  . --- General practice (Medicine). --- Human Genetics. --- Neurology. --- Oncology. --- General Practice / Family Medicine. --- Tumors --- Medicine --- Nervous system --- Neuropsychiatry --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Paediatrics --- Pediatric medicine --- Children --- Skin --- Diseases --- Health and hygiene --- Neurofibromatosi --- Malalties de la pell --- Malalties hereditàries --- Diagnòstic --- Terapèutica --- Teràpia --- Tractament (Medicina) --- Tractament de les malalties --- Medicina clínica --- Al·lopatia (Terapèutica) --- Antipirètics --- Cateterisme --- Dietoteràpia --- Fisioteràpia --- Fórmules magistrals --- Hormonoteràpia --- Immunoteràpia --- Injeccions intraarticulars --- Intubació --- Ioga --- Logopèdia --- Medicina alternativa --- Nutrició --- Quimioteràpia --- Radiologia intervencionista --- Terapèutica dental --- Terapèutica fisiològica --- Teràpia genètica --- Teràpia intravenosa --- Teràpia respiratòria --- Terapèutica veterinària --- Tractament pal·liatiu --- Ús terapèutic --- Diagnosi --- Diagnòstic físic --- Examen mèdic (Diagnòstic) --- Exploració médica (Diagnòstic) --- Exploració clínica (Diagnòstic) --- Cribratge --- Diagnòstic d'infermeria --- Diagnòstic diferencial --- Diagnòstic dual --- Diagnòstic molecular --- Diagnòstic prenatal --- Diagnòstic quirúrgic --- Diagnòstic per la imatge --- Electrodiagnòstic --- Entrevista clínica --- Examen físic --- Isòtops radioactius en diagnòstic mèdic --- Monitoratge de pacients --- Proves funcionals (Medicina) --- Patologia --- Pronòstic mèdic --- Símptomes --- Genopaties --- Herència patològica --- Malalties congènites --- Malalties genètiques --- Malalties genotípiques --- Trastorns congènits --- Trastorns genètics --- Malalties --- Amiotròfia neural progressiva de Charcot-Marie-Tooth --- Corea de Huntington --- Errors congènits del metabolisme --- Esferocitosi hereditària --- Facomatosis --- Fibrosi quística --- Hemofília --- Malaltia de von Willebrand --- Síndrome d'Aicardi-Goutières --- Síndrome de Noonan --- Genètica mèdica --- Patologia molecular --- Dermatopaties --- Dermatosis --- Càncer de pell --- Ceratosi --- Dermatotoxicologia --- Erisipela --- Fotodermatosis --- Liquen pla --- Lupus eritematós --- Malaltia de Behçet --- Malalties de la pell en els animals --- Malalties de les ungles --- Manifestacions cutànies de les malalties --- Parapsoriasi --- Pecilodèrmia --- Pèmfig --- Psoriasi --- Ronya --- Trastorns de la pigmentació --- Dermatologia --- Urticària --- Facomatosi de Recklinghausen --- Malaltia de Recklinghausen --- Fibromes