عنوان

Congenital hyperinsulinism :

(Number (ISBN

3030029611

(Number (ISBN

9783030029616

Erroneous ISBN

3030029603

Erroneous ISBN

9783030029609

Title Proper

Congenital hyperinsulinism :

General Material Designation

[Book]

Other Title Information

a practical guide to diagnosis and management /

First Statement of Responsibility

Diva D. De León-Crutchlow, Charles A. Stanley, editors.

Place of Publication, Distribution, etc.

Cham, Switzerland :

Name of Publisher, Distributor, etc.

Humana Press,

Date of Publication, Distribution, etc.

[2019]

Specific Material Designation and Extent of Item

1 online resource

Series Title

Contemporary endocrinology

Text of Note

Includes bibliographical references and index.

Text of Note

Intro; Series Editor Foreword; Preface; Contents; Contributors; Chapter 1: Approach to the Diagnosis of Neonates and Infants with Persistent Hypoglycemia; Introduction; Diagnosis of HI: Fasting Test and "Critical Samples"; Diagnosis of Hyperinsulinism Using the Closely Monitored Fasting Test; Diagnosis of Hyperinsulinism Based on a Random "Critical Sample"; Other Tests Used to Define Specific Phenotypes of Hyperinsulinism; Oral Protein Tolerance Test (oPTT); Oral Glucose Tolerance Test (oGTT); Acute Insulin Response (AIR) Tests; Genetic Testing in Neonates and Children with Hyperinsulinism

Text of Note

Chapter 4: Syndromic Causes of Congenital HyperinsulinismBeckwith-Wiedemann Syndrome; Kabuki Syndrome; Sotos Syndrome; Turner Syndrome; References; Chapter 5: Molecular Diagnosis of Congenital Hyperinsulinism; Genetic Heterogeneity of Congenital Hyperinsulinism (HI); Strategies for Genetic Screening; Interpretation of Genetic Test Results; Cascade Family Testing; Negative Genetic Test Results; Factors to Consider when Choosing Where to Send Samples for Genetic Testing; Conclusions; References; Chapter 6: Medical Management of Hyperinsulinism; Introduction

Text of Note

Diazoxide-Unresponsive HI due to Recessive KATP Channel MutationsDiazoxide-Unresponsive HI due to Dominant KATP Channel Mutations; Clinical Features and Management; Focal KATP Hyperinsulinism; Biallelic Recessive Diazoxide-Unresponsive KATPHI; Dominant Diazoxide-Unresponsive KATPHI; Dominant Diazoxide-Responsive KATPHI; Complications; Glucokinase Hyperinsulinism; Pathophysiology; Activating GCK Mutations; Clinical Features and Management; Dietary Treatment; Medical Treatment; Surgery; Diazoxide-Unresponsive HI with Unknown Genetics; Conclusions; References

Text of Note

Important Mimickers to Exclude in the Diagnosis of HyperinsulinismMultiple Pituitary Hormone Deficiencies in Neonates; AKT2; Autoimmune Hypoglycemia; Surreptitious Insulin Administration; Insulin Secretagogues; Insulinoma; Signs and Symptoms of Hyperinsulinism in Neonates and Children (See Table 1.5); Neonates; Infants and Children; Fasting Test to Evaluate Efficacy of Treatment ("Safety Fast" and "Cure Fast"); Conclusion; References; Chapter 2: Diazoxide-Responsive Forms of Congenital Hyperinsulinism; Introduction; Definition of Diazoxide Responsiveness

Text of Note

Perinatal Stress-Induced HyperinsulinismGlutamate Dehydrogenase Hyperinsulinism (Hyperinsulinism/Hyperammonemia Syndrome); HNF4A and HNF1A Hyperinsulinism; Rarer Forms of Diazoxide-Responsive Hyperinsulinism; Short-Chain L-3-Hydroxyacyl-CoA Dehydrogenase Hyperinsulinism; Uncoupling Protein 2 Hyperinsulinism; Monocarboxylate Transport Protein 1 Hyperinsulinism; Additional Rare Forms of Diazoxide-Responsive Hyperinsulinism; References; Chapter 3: Diazoxide-Unresponsive Forms of Congenital Hyperinsulinism; Introduction; KATP Hyperinsulinism; Pathophysiology

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Text of Note

This unique book is a practical guide for the clinician faced with the challenge of diagnosing and managing neonates, infants and children with congenital hyperinsulinism (HI), within the framework of pathophysiology and molecular genetics. Major advances have been made in HI research over the past two decades, and with this better understanding of the molecular genetics of HI, a "personalized" approach to management according to the type of hyperinsulinism, and particularly according to the likelihood of focal hyperinsulinism, is starting to emerge. The opening chapter discusses HI diagnosis using biochemical approaches and phenotype characterization. The various forms of HI are then presented in detail in three main categories: diazoxide-responsive, diazoxide-unresponsive and syndromic HI. Both medical and surgical management strategies are then discussed, covering imaging, histology, surgical approach, and post-operative management. Complications, such as feeding problems, and long-term outcomes, such as neurodevelopmental issues, are carefully considered in the final chapter. Practical and user-friendly, Congenital Hyperinsulinism is the go-to resource for pediatric endocrinologists, residents and fellows, general pediatricians and neonatologists.

Source for Acquisition/Subscription Address

Springer Nature

Stock Number

com.springer.onix.9783030029616

Title

Congenital hyperinsulinism.

International Standard Book Number

9783030029609

Diabetes in children.

Diabetes-- Molecular aspects.

Insulin-- Secretion.

Diabetes in children.

Diabetes-- Molecular aspects.

Insulin-- Secretion.

MEDICAL-- Physiology.

SCIENCE-- Life Sciences-- Human Anatomy & Physiology.

MED-- 075000

SCI-- 036000

Number

Edition

Class number

De León-Crutchlow, Diva D.

Stanley, Charles A.

Date of Transaction

20200823074816.0

Cataloguing Rules (Descriptive Conventions))

pn

Electronic name

[Book]

Y