001482411 000__ 06110cam\\22005657a\4500 001482411 001__ 1482411 001482411 003__ OCoLC 001482411 005__ 20231128003335.0 001482411 006__ m\\\\\o\\d\\\\\\\\ 001482411 007__ cr\un\nnnunnun 001482411 008__ 231014s2023\\\\sz\\\\\\o\\\\\001\0\eng\d 001482411 019__ $$a1402734425 001482411 020__ $$a9783031372759$$q(electronic bk.) 001482411 020__ $$a3031372751$$q(electronic bk.) 001482411 020__ $$z3031372743 001482411 020__ $$z9783031372742 001482411 0247_ $$a10.1007/978-3-031-37275-9$$2doi 001482411 035__ $$aSP(OCoLC)1402819986 001482411 040__ $$aEBLCP$$beng$$cEBLCP$$dGW5XE$$dYDX$$dEBLCP$$dYDX$$dOCLCO$$dOCLCF 001482411 049__ $$aISEA 001482411 050_4 $$aRC280.E55$$bF36 2023 001482411 08204 $$a616.9944$$223/eng/20231024 001482411 24500 $$aFamilial endocrine cancer syndromes :$$bnavigating the transition of care for pediatric and adolescent patients /$$cFady Hannah-Shmouni, editor. 001482411 260__ $$aCham :$$bSpringer,$$c2023. 001482411 300__ $$a1 online resource (227 p.) 001482411 500__ $$aGenetic Counseling 001482411 500__ $$aIncludes index. 001482411 5050_ $$aIntro -- Preface -- About the Editor -- Contents -- Chapter 1: The Psychosocial Impact of Familial Endocrine Cancer Syndromes (FECS) on the Patient and Caregiver -- Introduction -- Psychosocial Impact of Living with a Familial Endocrine Cancer Syndrome on Patients and Their Caregivers -- Multiple Endocrine Neoplasia (MEN) -- Multiple Endocrine Neoplasia, Type 1 (MEN1) -- Multiple Endocrine Neoplasia, Type 2 (MEN2) -- Von Hippel-Lindau Disease (VHL) -- SDH-Related Paraganglioma and Pheochromocytoma Syndrome -- Genetic Testing Experiences 001482411 5058_ $$aData from Adolescents At-Risk of Li-Fraumeni Syndrome (LFS) -- Multiple Endocrine Neoplasia (MEN) -- Von Hippel-Lindau Disease (VHL) -- SDH-Related Paraganglioma and Pheochromocytoma Syndrome -- Experiences of Surveillance -- Reproductive Considerations -- Impact of Carrier Status on Reproductive Considerations -- Awareness and Acceptability of Reproductive Options -- Ethical Issues That Arise in Genetic Counseling of Familial Endocrine Cancer Syndromes in Pediatrics and Adolescents -- Review of Guidelines and Framework -- The Case of Jane Smith -- General Discussion -- References 001482411 5058_ $$aChapter 2: Transitions of Care Models -- Introduction -- Current State of Transition of Care -- Transition of Care Models -- Health Care Provider (HCP)-Based Models -- Primary Care Provider (PCP)-Led Model -- Specialized Care-Led Model -- Shared-Care Model -- Navigator-Based Model -- Intervention-Based Model -- Got Transition -- Towards a New Transition of Care Model -- Conclusion -- References -- Chapter 3: Genomic Endocrinology, Genome Sequencing, and Applications in Genetic Testing -- Introduction 001482411 5058_ $$aGenetics in Pediatric and Adolescent Clinical Practice and Next-Generation Sequencing Applications -- Genome Versus Exome Sequencing, Variant Interpretation, Other Challenges -- NGS and Cell-Free (cf)DNA in Cancer Medicine and Prenatal Testing -- NGS, Mosaicism and Its Applications in Detecting Somatic Genetic Defects -- References -- Chapter 4: Familial Endocrine Cancer Syndromes with Pediatric and Adolescent Presentation -- Introduction -- Syndromes with Prominent Endocrine Presentations -- Multiple Endocrine Neoplasia, Type 1 -- Background and Prevalence -- Clinical Characteristics 001482411 5058_ $$aMultiple Endocrine Neoplasia, Type 2 -- Background and Prevalence -- Clinical Characteristics -- Multiple Endocrine Neoplasia, Type 4 -- Background and Prevalence -- Clinical Characteristics -- von Hippel-Lindau Syndrome -- Background and Prevalence -- Clinical Characteristics -- Conclusion -- References -- Chapter 5: Familial Thyroid Cancer Syndromes in Children and Adolescents -- Introduction -- Syndromic FNMTC -- PTEN Hamartoma Tumor Syndrome (PHTS) -- Genetic Background -- Epidemiology -- Clinical Presentation in Children and Adolescents -- PHTS-Associated Thyroid Cancer Management 001482411 506__ $$aAccess limited to authorized users. 001482411 520__ $$aThis book is composed of 13 informative chapters written by world-renowned healthcare providers and researchers in the fields of endocrinology, pharmacy, radiology, infertility, pediatrics, internal medicine, psychology and genetics. From topics covering psychosocial impacts to pharmacokinetic and homecare resources, the intent of this book is to provide guiding principles for a safe and informative transition of care for pediatric and adolescent patients with various familial endocrine cancer syndromes that are transitioning from pediatric to adult health care. It provides an in-depth exploration of the diagnostic and therapeutic strategies, survivorship navigation intervention, patient, caregiver and primary care provider challenges, and multidisciplinary care plans for conditions such as MEN1, MEN2 and other familial and genetic endocrine neoplasias. Familial Endocrine Cancer Syndromes: Navigating the Transition of Care for Pediatric and Adolescent Patients is a much-needed resource, as the literature currently lacks a comprehensive publication to facilitate pediatric patients transition to adult clinics and resources following endocrine cancer diagnosis and treatment. 001482411 588__ $$aOnline resource; title from PDF title page (SpringerLink, viewed October 24, 2023). 001482411 650_6 $$aGlandes endocrines$$xCancer$$xAspect génétique. 001482411 650_6 $$aCancer chez l'enfant$$xAspect génétique. 001482411 650_0 $$aEndocrine glands$$xCancer$$xGenetic aspects. 001482411 650_0 $$aCancer in children$$xGenetic aspects.$$0(DLC)sh 00009208 001482411 655_0 $$aElectronic books. 001482411 7001_ $$aHannah-Shmouni, Fady. 001482411 77608 $$iPrint version:$$aHannah-Shmouni, Fady$$tFamilial Endocrine Cancer Syndromes$$dCham : Springer International Publishing AG,c2023$$z9783031372742 001482411 852__ $$bebk 001482411 85640 $$3Springer Nature$$uhttps://univsouthin.idm.oclc.org/login?url=https://link.springer.com/10.1007/978-3-031-37275-9$$zOnline Access$$91397441.1 001482411 909CO $$ooai:library.usi.edu:1482411$$pGLOBAL_SET 001482411 980__ $$aBIB 001482411 980__ $$aEBOOK 001482411 982__ $$aEbook 001482411 983__ $$aOnline 001482411 994__ $$a92$$bISE