Congenital Endocrinopathies: New Insights into Endocrine Diseases and Diabetes Workshop, Genova, January 2007Available to Purchase
In recent years, substantial progress in gene technology has greatly improved the understanding of the pathogenesis of paediatric endocrine diseases as well as opened new diagnostic and therapeutic possibilities.
This volume, based on a symposium held in Genoa in January 2007, reviews normal and abnormal hypothalamic-pituitary development affecting growth hormone (GH) secretion and defects of the GH-IGF-I axis influencing GH and IGF-I action. Abnormalities of the pituitary-gonadal axis affecting normal puberty are discussed together with defects of steroidogenesis involving both adrenal and gonadal development. The effect of glucocorticoid hormone programming in early life and defects of G proteins and their receptors are also described. Key chapters cover neonatal diabetes, congenital insulin resistance syndromes and the pathogenesis and management of persisting hyperinsulism of infancy. Finally, the application of stem cell research from animal studies to human diagnosis and therapy is reviewed.
Providing information that is of topical value to physicians, nonclinical scientists and students from many disciplines, this book stimulates thought and future research opportunities with cutting-edge scientific results in the complex field of congenital endocrinopathies.
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Table of Contents
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1 - 5: Genomic Approaches in Genetic Research for Endocrine DiseasesByRoberto RavazzoloRoberto RavazzoloLaboratory of Molecular Genetics, G. Gaslini Institute, and Department of Pediatrics and CEBR, University of Genova, Genova, ItalySearch for other works by this author on:
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6 - 15: Genetic Defects of the Growth-Hormone-IGF Axis Associated with Growth Hormone InsensitivityByKatie WoodsKatie WoodsPediatric Endocrinology, Department of Pediatrics, Doernbecher Children’s Hospital, Portland, Oreg., USASearch for other works by this author on:
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16 - 27: Late Effects of Disturbed IGF Signaling in Congenital Diseases: Intrauterine and Postnatal Growth RetardationByStefano Cianfarani;Stefano CianfaraniRina Balducci Center of Pediatric Endocrinology, Department of Public Health and Cell Biology, Tor Vergata University, Rome, ItalySearch for other works by this author on:Caterina Geremia;Caterina GeremiaRina Balducci Center of Pediatric Endocrinology, Department of Public Health and Cell Biology, Tor Vergata University, Rome, ItalySearch for other works by this author on:Antonella Puglianiello;Antonella PuglianielloRina Balducci Center of Pediatric Endocrinology, Department of Public Health and Cell Biology, Tor Vergata University, Rome, ItalySearch for other works by this author on:Arianna Maiorana;Arianna MaioranaRina Balducci Center of Pediatric Endocrinology, Department of Public Health and Cell Biology, Tor Vergata University, Rome, ItalySearch for other works by this author on:Daniela GermaniDaniela GermaniRina Balducci Center of Pediatric Endocrinology, Department of Public Health and Cell Biology, Tor Vergata University, Rome, ItalySearch for other works by this author on:
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28 - 35: Growth Hormone Receptor Polymorphisms: Controversies and Outcome of Growth Hormone TreatmentByFabio Buzi;Fabio BuziaCentro di Auxoendocrinologia, Department of Paediatrics, andSearch for other works by this author on:Patrizia Mella;Patrizia MellabIstituto di Medicina Molecolare A. Nocivelli, University of Brescia, Brescia, ItalySearch for other works by this author on:Alba Pilotta;Alba PilottaaCentro di Auxoendocrinologia, Department of Paediatrics, andSearch for other works by this author on:Elena Prandi;Elena PrandiaCentro di Auxoendocrinologia, Department of Paediatrics, andSearch for other works by this author on:Fabiana Lanfranchi;Fabiana LanfranchiaCentro di Auxoendocrinologia, Department of Paediatrics, andSearch for other works by this author on:Teresa CarapellaTeresa CarapellaaCentro di Auxoendocrinologia, Department of Paediatrics, andSearch for other works by this author on:
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36 - 46: Genetic Disorders Involving Adrenal DevelopmentByLin Lin;Lin LinDevelopmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, London, UKSearch for other works by this author on:Bruno Ferraz-de-Souza;Bruno Ferraz-de-SouzaDevelopmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, London, UKSearch for other works by this author on:John C. AchermannJohn C. AchermannDevelopmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, London, UKSearch for other works by this author on:
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47 - 57: Early Management and Gender Assignment in Disorders of Sexual DifferentiationByI.A. HughesI.A. HughesDepartment of Paediatrics, Addenbrooke’s Hospital, University of Cambridge,Cambridge, UKSearch for other works by this author on:
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58 - 69: Prenatal and Early Postnatal Treatment of Congenital Adrenal HyperplasiaByLucia Ghizzoni;Lucia GhizzoniDipartimento dell’Età Evolutiva, University of Parma, Parma, ItalySearch for other works by this author on:Silvia Cesari;Silvia CesariDipartimento dell’Età Evolutiva, University of Parma, Parma, ItalySearch for other works by this author on:Giulia Cremonini;Giulia CremoniniDipartimento dell’Età Evolutiva, University of Parma, Parma, ItalySearch for other works by this author on:Lisa MelandriLisa MelandriDipartimento dell’Età Evolutiva, University of Parma, Parma, ItalySearch for other works by this author on:
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70 - 82: Neonatal Diabetes: The Role of KCNJ11 (Kir6.2)ByPaolo TammaroPaolo TammaroDepartment of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UKSearch for other works by this author on:
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83 - 93: Diagnosis of Neonatal and Infancy-Onset DiabetesByFabrizio BarbettiFabrizio BarbettiSan Raffaele Biomedical Park Foundation and Bambino Gesù Pediatric Hospital and Department of Internal Medicine, University of Tor Vergata, Rome, ItalySearch for other works by this author on:
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94 - 105: Management of Neonatal and Infancy-Onset Diabetes MellitusByOddmund Søvik;Oddmund SøvikaDepartments of Clinical Medicine andSearch for other works by this author on:Mojca Zerjav Tansek;Mojca Zerjav TansekdMedical Center Ljubljana University Children’s Hospital, Ljubljana, SloveniaSearch for other works by this author on:Jørn V. Sagen;Jørn V. Sagenb Medicine, University of Bergen, andSearch for other works by this author on:Pål Rasmus NjølstadPål Rasmus NjølstadaDepartments of Clinical Medicine andcDepartment of Pediatrics, Haukeland University Hospital, Bergen, Norway;Search for other works by this author on:
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106 - 121: Insights in Congenital HyperinsulinismByKhalid HussainKhalid HussainLondon Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust and Developmental Endocrinology Research Group Molecular Genetics Unit Institute of Child Health, University College London,London, UKSearch for other works by this author on:
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122 - 132: A Clinical Approach to Severe Insulin ResistanceByDavid B. Savage;David B. SavageaDepartments of Clinical Biochemistry and Medicine, University of Cambridge, Cambridge, andSearch for other works by this author on:Robert K. Semple;Robert K. SempleaDepartments of Clinical Biochemistry and Medicine, University of Cambridge, Cambridge, andSearch for other works by this author on:V. Krishna K. Chatterjee;V. Krishna K. ChatterjeeaDepartments of Clinical Biochemistry and Medicine, University of Cambridge, Cambridge, andSearch for other works by this author on:Jeremy K.H. Wales;Jeremy K.H. Walesb Department of Paediatric Endocrinology, Sheffield Children’s Hospital, andSearch for other works by this author on:Richard J.M. Ross;Richard J.M. Rossc Department of Diabetes and Endocrinology, Northern General Hospital, Sheffield, UKSearch for other works by this author on:Stephen O'RahillyStephen O'RahillyaDepartments of Clinical Biochemistry and Medicine, University of Cambridge, Cambridge, andSearch for other works by this author on:
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133 - 144: Inherited Endocrine Diseases Involving G Proteins and G Protein-Coupled ReceptorsByAllen M. SpiegelAllen M. SpiegelAlbert Einstein College of Medicine, Bronx, N.Y., USASearch for other works by this author on:
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145 - 151: Stem Cells: From Animal Research to Clinical ApplicationsByCarlo Alberto Redi;Carlo Alberto RediaDirezione Scientifica Fondazione IRCCS Policlinico San Matteo andSearch for other works by this author on:Manuela Monti;Manuela Montib Laboratorio di Biologia dello Sviluppo, University of Pavia, Pavia, andSearch for other works by this author on:Valeria Merico;Valeria Mericob Laboratorio di Biologia dello Sviluppo, University of Pavia, Pavia, andSearch for other works by this author on:Tui Neri;Tui Nerib Laboratorio di Biologia dello Sviluppo, University of Pavia, Pavia, andSearch for other works by this author on:Mario Zanoni;Mario Zanonib Laboratorio di Biologia dello Sviluppo, University of Pavia, Pavia, andSearch for other works by this author on:Maurizio Zuccotti;Maurizio Zuccottic Dipartimento di Medicina Sperimentale, University of Parma, Parma, ItalySearch for other works by this author on:Silvia GaragnaSilvia Garagnab Laboratorio di Biologia dello Sviluppo, University of Pavia, Pavia, andSearch for other works by this author on: