Monogenic Hyperinsulinemic Hypoglycemia Disorders

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Monogenic Hyperinsulinemic Hypoglycemia Disorders

Author : Charles A. Stanley
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3805599439
Total Pages : 206 pages
Book Rating : 4.8/5 (55 download)

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Book Synopsis Monogenic Hyperinsulinemic Hypoglycemia Disorders by : Charles A. Stanley

Download or read book Monogenic Hyperinsulinemic Hypoglycemia Disorders written by Charles A. Stanley and published by Karger Medical and Scientific Publishers. This book was released on 2012 with total page 206 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular mechanisms, clinical manifestations and new treatments In this volume of 'Frontiers in Diabetes' dealing with the molecular basis of monogenic disease of beta-cell insulin regulation, world-renowned experts provide in-depth descriptions of the many recent advances in genetic defects that cause hyperinsulinemic hypoglycemia. These disorders comprise the most important form of hypoglycemia in infants and children and are associated with a high risk of morbidity, including seizures and severe brain injury. The discovery of eight different genetic loci involved in congenital hyperinsulinism has led to greatly improved methods of diagnosis and treatment. New approaches to diagnosis are highlighted, such as 18F-DOPA PET scans for preoperative localization of focal hyperinsulinism, as well as potential new treatments, such as green tea polyphenols for GDH-HI and GLP- receptor antagonists for SUR1 and Kir6.2 hyperinsulinism. Practitioners, including pediatricians and specialists in endocrinology, surgery, genetics, pathology, and radiology, will find important up-to-date information for clinical diagnosis, management, and new treatments for infants and children with congenital hyperinsulinism. Researchers will discover how genetic hyperinsulinism disorders provide novel insights into the basic mechanisms regulating insulin secretion not only in diabetics, but also in healthy humans.

Inherited Metabolic Disease in Adults

Author : Carla E. M. Hollak
Publisher : Oxford University Press
ISBN 13 : 0199972133
Total Pages : 657 pages
Book Rating : 4.1/5 (999 download)

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Book Synopsis Inherited Metabolic Disease in Adults by : Carla E. M. Hollak

Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.

Diabetes Associated with Single Gene Defects and Chromosomal Abnormalities

Author : Fabrizio Barbetti
Publisher :
ISBN 13 : 9783318060249
Total Pages : 0 pages
Book Rating : 4.0/5 (62 download)

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Book Synopsis Diabetes Associated with Single Gene Defects and Chromosomal Abnormalities by : Fabrizio Barbetti

Download or read book Diabetes Associated with Single Gene Defects and Chromosomal Abnormalities written by Fabrizio Barbetti and published by . This book was released on 2017 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume, written by renowned experts, provides complete coverage of the main genetic conditions associated with diabetes. Divided into five sections, it offers insights into genetic defects involving the pancreatic beta cell, extreme insulin resistance, ciliopathies, obesity and glucose metabolism, chromosomal defects, and other genetic conditions associated with increased susceptibility to diabetes. Other topics include the various subtypes of monogenic diabetes, such as the neonatal form and the Wolfram syndrome, as well as chromosomal defects leading to complex conditions affiliated with diabetes, like Trisomy 21 or Prader-Willi syndrome. There are also chapters dedicated to the poorly explored relationships between metabolism and neurodegenerative disorders like Friedreich's ataxia and muscular dystrophy. This book is a reference for every pediatric and adult endocrinologist and diabetologist, even experienced ones, with an interest in the intricacies and protean aspects of disorders of glucose metabolism secondary to genetic diseases.

Genetic Diagnosis of Endocrine Disorders

Author : Roy E. Weiss
Publisher : Academic Press
ISBN 13 : 0128011343
Total Pages : 472 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Genetic Diagnosis of Endocrine Disorders by : Roy E. Weiss

Download or read book Genetic Diagnosis of Endocrine Disorders written by Roy E. Weiss and published by Academic Press. This book was released on 2015-10-09 with total page 472 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders. The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias. Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases Teaches the essentials of the genetic basis of disease in each major endocrine organ system Offers expert advice from genetic counselors on how to use genetic information in counseling patients Includes new chapters on the genetics of lipid disorders and glycogen storage diseases, genetics of hypoglycemia, and whole genome/exome sequencing

Monogenic Hyperinsulinemic Hypoglycemia Disorders

Author : D.D. De Léon
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3805599447
Total Pages : 206 pages
Book Rating : 4.8/5 (55 download)

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Book Synopsis Monogenic Hyperinsulinemic Hypoglycemia Disorders by : D.D. De Léon

Download or read book Monogenic Hyperinsulinemic Hypoglycemia Disorders written by D.D. De Léon and published by Karger Medical and Scientific Publishers. This book was released on 2012-02-16 with total page 206 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this volume of 'Frontiers in Diabetes' dealing with the molecular basis of monogenic disease of beta-cell insulin regulation, world-renowned experts provide in-depth descriptions of the many recent advances in genetic defects that cause hyperinsulinemic hypoglycemia. These disorders comprise the most important form of hypoglycemia in infants and children and are associated with a high risk of morbidity, including seizures and severe brain injury. The discovery of eight different genetic loci involved in congenital hyperinsulinism has led to greatly improved methods of diagnosis and treatment. New approaches to diagnosis are highlighted, such as 18F-DOPA PET scans for preoperative localization of focal hyperinsulinism, as well as potential new treatments, such as green tea polyphenols for GDH-HI and GLP-receptor antagonists for SUR1 and Kir6.2 hyperinsulinism.Practitioners, including pediatricians and specialists in endocrinology, surgery, genetics, pathology, and radiology, will find important up-to-date information for clinical diagnosis, management, and new treatments for infants and children with congenital hyperinsulinism. Researchers will discover how genetic hyperinsulinism disorders provide novel insights into the basic mechanisms regulating insulin secretion not only in diabetics, but also in healthy humans.

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

Author : Lee-Jun C. Wong
Publisher : Springer
ISBN 13 : 3319564188
Total Pages : 364 pages
Book Rating : 4.3/5 (195 download)

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Book Synopsis Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders by : Lee-Jun C. Wong

Download or read book Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders written by Lee-Jun C. Wong and published by Springer. This book was released on 2017-05-15 with total page 364 pages. Available in PDF, EPUB and Kindle. Book excerpt: Next Generation Sequencing technology has been applied to clinical diagnoses in the past three to five years using various approaches, including target gene panels and whole exomes. The purpose of this book is to summarize the experiences, the results, advantages and disadvantages, along with future development in the area of NGS-based molecular diagnosis. This up-to-date volume will not only provide the readers working with Next Generation Sequencing the basics on how to apply the technology to molecular diagnosis, but will present the results and experience of practical application.

Diabetes Mellitus in Children

Author : Mark A. Sperling
Publisher :
ISBN 13 : 9781416027539
Total Pages : 0 pages
Book Rating : 4.0/5 (275 download)

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Book Synopsis Diabetes Mellitus in Children by : Mark A. Sperling

Download or read book Diabetes Mellitus in Children written by Mark A. Sperling and published by . This book was released on 2005 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Metabolic Diseases

Author : E. Gilbert-Barness
Publisher : IOS Press
ISBN 13 : 1614997187
Total Pages : 960 pages
Book Rating : 4.6/5 (149 download)

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Book Synopsis Metabolic Diseases by : E. Gilbert-Barness

Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.

Oxford Textbook of Endocrinology and Diabetes

Author : John A.H. Wass
Publisher : Oxford University Press, USA
ISBN 13 : 0199235295
Total Pages : 2158 pages
Book Rating : 4.1/5 (992 download)

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Book Synopsis Oxford Textbook of Endocrinology and Diabetes by : John A.H. Wass

Download or read book Oxford Textbook of Endocrinology and Diabetes written by John A.H. Wass and published by Oxford University Press, USA. This book was released on 2011-07-28 with total page 2158 pages. Available in PDF, EPUB and Kindle. Book excerpt: Now in its second edition, the Oxford Textbook of Endocrinology and Diabetes is a fully comprehensive, evidence-based, and highly-valued reference work combining basic science with clinical guidance, and providing first rate advice on diagnosis and treatment.

Transporters in Drug Discovery and Development

Author : Yurong Lai
Publisher : Woodhead Publishing
ISBN 13 : 190881828X
Total Pages : 759 pages
Book Rating : 4.9/5 (88 download)

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Book Synopsis Transporters in Drug Discovery and Development by : Yurong Lai

Download or read book Transporters in Drug Discovery and Development written by Yurong Lai and published by Woodhead Publishing. This book was released on 2014-08-22 with total page 759 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by a leading researcher in the field, Transporters in Drug Discovery and Development provides a comprehensive and practical guide to drug transporter families that are the most important for drug discovery and development. It covers: an overview of transporter families and organ distribution; clinical relevant drug-drug interaction; clinical relevant polymorphism; drug transporter related pharmacokinetic, pharmacodynamics and toxicity; in vitro/in vivo probes of drug transport studies; the practical methodologies of industrial transporter screening and translational aspect in drug discovery and developments. A comprehensive overview of drug transporter families and their clinical relevance in drug discovery and development Balanced coverage of molecular biology aspects and functional outcomes State of art knowledge related to transporter-mediated DDI and the clinical relevance in pharmacokinetics, dynamics, and toxicity

Gestational Diabetes

Author : A. Lapolla
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3318066125
Total Pages : 277 pages
Book Rating : 4.3/5 (18 download)

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Book Synopsis Gestational Diabetes by : A. Lapolla

Download or read book Gestational Diabetes written by A. Lapolla and published by Karger Medical and Scientific Publishers. This book was released on 2019-12-19 with total page 277 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diabetes mellitus, one of the most prevalent complications during pregnancy, can cause a range of problems for women and their developing babies. The number of types of diabetes during pregnancy has dramatically increased worldwide in recent years. Obesity is a very common risk factor for the development of GDM and type 2 diabetes. To prevent birth defects and other health problems, optimal healthcare before and during pregnancy is mandatory. To reach this goal, a multidisciplinary approach is of major importance. This book presents the latest knowledge on the physiopathology, diagnosis, autoimmunity, genetics, omics, and management and treatment of diabetic pregnancy. Renowned healthcare professionals and academic experts provide insights into the complexity of diabetic pregnancy, its treatment, and pregnancy complications. This is a comprehensive overview of the clinical characteristics of pregnancy-related type 1 and 2 diabetes as well as of gestational diabetes. It is a must-read for everyone involved in the monitoring of diabetes during pregnancy.

Genetics of Endocrine Diseases and Syndromes

Author : Peter Igaz
Publisher : Springer Nature
ISBN 13 : 3030259056
Total Pages : 476 pages
Book Rating : 4.0/5 (32 download)

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Book Synopsis Genetics of Endocrine Diseases and Syndromes by : Peter Igaz

Download or read book Genetics of Endocrine Diseases and Syndromes written by Peter Igaz and published by Springer Nature. This book was released on 2019-10-06 with total page 476 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.

Inherited Metabolic Diseases

Author : Georg F. Hoffmann
Publisher : Springer Science & Business Media
ISBN 13 : 3540747230
Total Pages : 380 pages
Book Rating : 4.5/5 (47 download)

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Book Synopsis Inherited Metabolic Diseases by : Georg F. Hoffmann

Download or read book Inherited Metabolic Diseases written by Georg F. Hoffmann and published by Springer Science & Business Media. This book was released on 2009-11-21 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.

The Genetic Landscape of Diabetes

Author : Laura Dean
Publisher :
ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.:/5 (55 download)

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Book Synopsis The Genetic Landscape of Diabetes by : Laura Dean

Download or read book The Genetic Landscape of Diabetes written by Laura Dean and published by . This book was released on 2004 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Advanced Nutrition and Dietetics in Diabetes

Author : Louise Goff
Publisher : John Wiley & Sons
ISBN 13 : 1119121701
Total Pages : 352 pages
Book Rating : 4.1/5 (191 download)

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Book Synopsis Advanced Nutrition and Dietetics in Diabetes by : Louise Goff

Download or read book Advanced Nutrition and Dietetics in Diabetes written by Louise Goff and published by John Wiley & Sons. This book was released on 2015-10-20 with total page 352 pages. Available in PDF, EPUB and Kindle. Book excerpt: Published on behalf of The British Dietetic Association, Advanced Nutrition and Dietetics in Diabetes is an exploration of the evidence and practice of nutrition in diabetes, offering a global view of the lifestyle interventions for the prevention and management of diabetes, including management of complications and special population groups. With internationally recognised authors, this book applies the rigour of evidence-based medicine to important enduring topics in diabetes, such as: public health efforts at diabetes prevention formulating nutritional guidelines for diabetes carbohydrates and the glycaemic index the management of diabetes in older people The authors draw on their research and practical experience to offer sound guidance on best practice, ensuring that interventions are both scientifically secure and effective. ABOUT THE SERIES Dietary recommendations need to be based on solid evidence, but where can you find this information? The British Dietetic Association and the publishers of the Manual of Dietetic Practice present an essential and authoritative reference series on the evidence base relating to advanced aspects of nutrition and diet in selected clinical specialties. Each book provides a comprehensive and critical review of key literature in its subject. Each covers established areas of understanding, current controversies and areas of future development and investigation, and is oriented around six key themes: Disease processes, including metabolism, physiology, and genetics Disease consequences, including morbidity, mortality, nutritional epidemiology and patient perspectives Nutritional consequences of diseases Nutritional assessment, drawing on anthropometric, biochemical, clinical, dietary, economic and social approaches Clinical investigation and management Nutritional and dietary management Trustworthy, international in scope, and accessible, Advanced Nutrition and Dietetics is a vital resource for a range of practitioners, researchers and educators in nutrition and dietetics, including dietitians, nutritionists, doctors and specialist nurses. Please note Due to recent developments in this area, Chapter 4.3 on Nutritional management of glycaemia in type 2 diabetes has been withdrawn from the publication, and all future reprints will be replaced by a new chapter. All ebook versions are already updated. The contributor retains copyright to this chapter whilst their name still appears associated to the chapter.

Pediatric Endocrinology

Author : M. Sperling
Publisher :
ISBN 13 :
Total Pages : 826 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Pediatric Endocrinology by : M. Sperling

Download or read book Pediatric Endocrinology written by M. Sperling and published by . This book was released on 2002 with total page 826 pages. Available in PDF, EPUB and Kindle. Book excerpt: This New Edition is today's most comprehensive, definitive reference in the field, incorporating all of today's explosive discoveries in basic and clinical endocrinology. Its reliable, cutting-edge guidance for a full range of problems is combined with a wealth of information on the physiological, biochemical, and genetic basis at the molecular biological level. Dr. Mark A. Sperling and 33 contributing experts bring readers the benefits of discovery at the bench and its application at the bedside. New chapters, extensive revisions, and compelling updates will keep readers at the forefront of the diagnosis and management of endocrine disease in children. Incorporates the explosive growth in molecular biology as it relates to developmental and pediatric endocrinology. Extensively revised and updated chapters throughout reflect the latest information. Coverage of up-to-the-minute topics in the field, including molecular, biochemical, and clinical basis of hyperinsulinemic hypoglycemia of infancy and childhood diabetes mellitus energy balance/obesity growth hormone paradigms of mechanisms of hormone action, and others Contributions from new authors from distinguished institutions Numerous brand-new illustrations depict the most current information, particularly the basic science/genetic basis of certain entities

Congenital Hyperinsulinism

Author : Diva D. De León-Crutchlow
Publisher : Humana Press
ISBN 13 : 9783030029609
Total Pages : 163 pages
Book Rating : 4.0/5 (296 download)

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Book Synopsis Congenital Hyperinsulinism by : Diva D. De León-Crutchlow

Download or read book Congenital Hyperinsulinism written by Diva D. De León-Crutchlow and published by Humana Press. This book was released on 2019-02-04 with total page 163 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.