| Description |
1 online resource (227 p.) |
| Contents |
Intro -- 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 |
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Data 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 |
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Chapter 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 |
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Genetics 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 |
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Multiple 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 |
| Summary |
This 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 |
| Notes |
Genetic Counseling |
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Includes index |
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Online resource; title from PDF title page (SpringerLink, viewed October 24, 2023) |
| Subject |
Endocrine glands -- Cancer -- Genetic aspects
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Cancer in children -- Genetic aspects
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Multiple Endocrine Neoplasia -- therapy
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Multiple Endocrine Neoplasia Type 1
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Multiple Endocrine Neoplasia Type 2a
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Endocrine glands -- Cancer -- Genetic aspects
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| Form |
Electronic book
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| Author |
Hannah-Shmouni, Fady
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| ISBN |
9783031372759 |
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3031372751 |
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