Alagille Syndrome : Pathogenesis and Clinical Management /: Pathogenesis and Clinical Management. ([2018])

• Record Type: Book
• Further Information: Note: Binita M. Kamath, Kathleen M. Loomes, editors.
• Editors: Kamath, Binita M; Loomes, Kathleen M
• Contents: Intro; Preface; Acknowledgements; Contents; Contributors; Chapter 1: Alagille Syndrome: Overview and Introduction; Diagnosis of Alagille Syndrome and Jagged1 Mutation Status; Discovery of JAGGED1 Mutations as the Cause of ALGS: Implications for ALGS Patients; Family Considerations and Support; Summary; Suggested Reading; Chapter 2: Bile Duct Development and the Notch Signaling Pathway; Normal Intrahepatic Bile Duct Development; Cholangiocyte Specification; Cholangiocyte Morphogenesis; Refinement of Intrahepatic Bile Duct Architecture; The Notch Pathway The Requirement of Notch during Intrahepatic Bile Duct DevelopmentNuances of Notch Signal Transduction that May Influence Intrahepatic Bile Duct Development; Threshold Sensitivity; Trans-Activation Versus Cis-Inhibition; Notch-Independent De Novo Intrahepatic Bile Duct Formation; Notch Pathway-Dependent Vascular Smooth Muscle Defects and the Role of RUMI; Key Points; References; Chapter 3: Genetics of Alagille Syndrome; JAG1 and NOTCH2; Haploinsufficiency of Notch Signaling in Disease Pathobiology; JAG1 and NOTCH2 Mutations; Clinical Testing for Alagille Syndrome Variant Interpretation of JAG1 and NOTCH2 Missense MutationsVariable Expressivity of Alagille Syndrome; Genotype-Phenotype Correlations in Alagille Syndrome; Genetic Modifiers of Liver Disease Severity in Alagille Syndrome; Conclusions; References; Chapter 4: Liver Disease in Alagille Syndrome; Hepatic Disease in Alagille Syndrome; Clinical Features of Hepatic Disease in Alagille Syndrome; Biochemical Profile of Hepatic Disease in Alagille Syndrome; Diagnosis of Alagille Syndrome; Histopathologic Findings on Liver Biopsy in Alagille Syndrome Imaging Studies in Patients with Hepatic Alagille SyndromeOutcomes of Hepatic Disease in Alagille Syndrome; Management of Hepatic Disease in Alagille Syndrome; Nutrition; Pruritus; Surgical Management of Cholestasis; Hypercholesterolemia Management; Portal Hypertension; Hepatocellular Carcinoma; Summary; References; Chapter 5: Transplant Considerations in Alagille Syndrome; Background/Introduction; Living-Related Liver Transplant in Alagille Syndrome; Multi-organ Transplant; Planning for Liver Transplantation; Abdominal Vascular Abnormalities; CNS Vascular Abnormalities; Cardiac Involvement Previous Kasai OperationPrevious Biliary Diversion Operation; Post- liver Transplant Outcomes and Management; Conclusion; References; Chapter 6: Cardiac, Aortic, and Pulmonary Vascular Involvement in Alagille Syndrome; Spectrum and Frequency of Congenital Cardiovascular Disease Associated with Alagille Syndrome; Diagnostic Approach and Surveillance; Management; Outcomes; Conclusion; References; Chapter 7: Vascular Manifestations in Alagille Syndrome; Introduction; Normal Vascular Development; The Role of the Notch Signaling Pathway in Vascular Development
• Publisher Details: Cham, Switzerland : Springer
• Publication Date: 2018
• Extent: 1 online resource, illustrations
• Subjects: 616.042; Medicine; Genetic disorders; Liver -- Diseases -- Genetic aspects; Heart -- Diseases -- Genetic aspects; MEDICAL / Genetics; Medical -- Gastroenterology; Medical -- Cardiology; Hepatology; Cardiovascular medicine; Gastroenterology; Clinical medicine; Cardiology; Gastroenterology; Electronic books
• Languages: English
• ISBNs: 9783319945712; 3319945718
• Related ISBNs: 9783319945705; 331994570X
• Notes: Note: Includes bibliographical references and index.; Note: Online resource; title from PDF title page (EBSCO, viewed October 3, 2018).
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.