عنوان

Congenital hyperinsulinism :

شابک

3030029611

شابک

9783030029616

شابک اشتباه

3030029603

شابک اشتباه

9783030029609

عنوان اصلي

Congenital hyperinsulinism :

نام عام مواد

[Book]

ساير اطلاعات عنواني

a practical guide to diagnosis and management /

نام نخستين پديدآور

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

محل نشرو پخش و غیره

Cham, Switzerland :

نام ناشر، پخش کننده و غيره

Humana Press,

تاریخ نشرو بخش و غیره

[2019]

نام خاص و کميت اثر

1 online resource

عنوان فروست

Contemporary endocrinology

متن يادداشت

Includes bibliographical references and index.

متن يادداشت

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

متن يادداشت

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

متن يادداشت

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

متن يادداشت

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

متن يادداشت

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

بدون عنوان

0

بدون عنوان

8

بدون عنوان

8

بدون عنوان

8

بدون عنوان

8

متن يادداشت

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.

منبع سفارش / آدرس اشتراک

Springer Nature

شماره انبار

com.springer.onix.9783030029616

عنوان

Congenital hyperinsulinism.

شماره استاندارد بين المللي کتاب و موسيقي

9783030029609

موضوع مستند نشده

Diabetes in children.

موضوع مستند نشده

Diabetes-- Molecular aspects.

موضوع مستند نشده

Insulin-- Secretion.

موضوع مستند نشده

Diabetes in children.

موضوع مستند نشده

Diabetes-- Molecular aspects.

موضوع مستند نشده

Insulin-- Secretion.

موضوع مستند نشده

MEDICAL-- Physiology.

موضوع مستند نشده

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

موضوع مستند نشده

MED-- 075000

موضوع مستند نشده

SCI-- 036000

شماره

ويراست

شماره رده

مستند نام اشخاص تاييد نشده

De León-Crutchlow, Diva D.

مستند نام اشخاص تاييد نشده

Stanley, Charles A.

تاريخ عمليات

20200823074816.0

قواعد فهرست نويسي ( بخش توصيفي )

pn

نام الکترونيکي

نوع ماده

[Book]

تكميل شده

Y