Congenital Hyperinsulinism PDF Download
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Author: Diva D. De León-Crutchlow
Publisher: Humana Press
ISBN: 9783030029609
Category : Medical
Languages : en
Pages : 163
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Book Description
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.
Author: Diva D. De León-Crutchlow
Publisher: Humana Press
ISBN: 9783030029609
Category : Medical
Languages : en
Pages : 163
Get Book Here
Book Description
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.
Author: Sofia Llahana
Publisher: Springer
ISBN: 331999817X
Category : Medical
Languages : en
Pages : 1321
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Book Description
This book provides a comprehensive guide for nurses practicing in any area of endocrinology and at any level of expertise. Endocrinology Nursing is a fast-developing specialty with nurses performing advanced roles and expanding their practice to run independent nurse-led services. Supported by the European Society of Endocrinology (ESE) and edited by members of the ESE Nurses Working Group, this is the first book ever published specifically for endocrine nurses. It is also an excellent resource for endocrinology specialty trainees, general practitioners, medical and nursing students, expert patients and nurses working in specialties such as fertility, osteoporosis, oncology, obesity, urology and gynaecology, who look after patients with endocrine-related disorders. This volume includes 13 sections and 69 chapters providing a comprehensive overview of adult and paediatric endocrinology but also a section on advanced practice, role development and nursing research. It has been written by an international team of more than 100 eminent nurses, physicians, surgeons, psychologists and other healthcare professionals, which makes this book a valuable resource for any multidisciplinary team. Many patient advocacy groups have contributed with case studies which emphasises the close working relationships with patients.
Author: Mario Lima
Publisher: Springer
ISBN: 331940525X
Category : Medical
Languages : en
Pages : 442
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Book Description
This book presents and explains the latest developments in surgery for congenital digestive tract malformations, tumors, abdominal trauma, and the most important acquired digestive disorders. Particular attention is paid to minimally invasive and innovative techniques. In addition to clear descriptions of the surgical procedures that highlight useful tips and tricks, for each condition the clinical presentation is well illustrated and information is provided on pathogenesis. The book also includes general chapters that address the anatomy of the abdomen in children, diagnostic issues, the problem of clinical nutrition, and other aspects of management in pediatric patients with gastrointestinal pathologies. Pediatric Digestive Surgery will serve as a comprehensive and up-to-date reference for all pediatric surgeons. It will provide the trainee with easily understood, concise guidance while offering the more experienced surgeon valuable updates on the latest thinking and practice in the field.
Author: Yurong Lai
Publisher: Woodhead Publishing
ISBN: 190881828X
Category : Science
Languages : en
Pages : 759
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Book Description
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
Author: Kyriakie Sarafoglou
Publisher: McGraw Hill Professional
ISBN: 0071811575
Category : Medical
Languages : en
Pages : 966
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Book Description
Fast, crystal-clear guidance on managing both pediatric endocrine disorders and inborn errors of metabolism A Doody's Core Title for 2011! New England Journal of Medicine Review! "...an inspiring learning tool....Sarafoglou and colleagues have combined their expertise to create an informative and timely textbook in which the explanations of underlying mechanisms guide the structure of each chapter. It is a unique book that is pleasing to the eye, nurturing for the mind, and instructive for a broad readership."--New England Journal of Medicine 4 STAR DOODY'S REVIEW! "The book covers various pathophysiologic aspects of each endocrine organ and its interaction with other endocrine and nonendocrine systems. Disorders of thyroid and adrenal glands, pituitary, reproductive organs, and endocrine neoplasia are extensively covered. Most large groups of metabolic diseases are reviewed as well. Concise, pertinent information is provided on mitochondrial and fatty-acid oxidation, urea cycle and glycogen storage disorders, as well as organic acidurias and amino acidopathies. The most useful and user-friendly areas are the 1-to-2-page "at-a-glance" sections in each chapter which provide concise yet pertinent information about the disorders within a particular group of endocrine disturbances or IEM. This is a well written book and the multiple visual aids greatly assist in comprehension and memorization of the material...I strongly recommend this book without reservation." -- Doody's In one practical, user-friendly tutorial, a team of international contributors delivers the latest information and clinical insights you need to confidently diagnose and manage pediatric patients. This full-color resource guides you through the etiology, pathophysiology, presenting signs and symptoms, diagnostic laboratory examinations, and treatments regimens of each disorder. Features: Full-color presentation with numerous photos, illustrations, diagnostic algorithms, tables, and text boxes that summarize key concepts and assist in the decision-making process At-a-Glance feature beginning each disease-based chapter summarizes all the clinical information you need to differentiate between disorder sub-types in one easy-to-find place All-inclusive coverage encompasses the full spectrum of critical topics Emergency assessment and treatment chapter gives you fast, clear guidance on acute presentations of endocrine and metabolic disorders Chapter on newborn screening walks you through an abnormal screening result to follow-up diagnostic testing Complete and detailed information on all laboratory and radiographic testing used to diagnose disorders in both disciplines
Author: Paul D. Losty
Publisher: Springer
ISBN: 1447147219
Category : Medical
Languages : en
Pages : 1307
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Book Description
This book provides a detailed guide to neonatal surgery and its related disciplines including: fetal medicine, fetal surgery, radiology, newborn anaesthesia, intensive care, neonatal medicine, medical genetics, pathology, cardiac surgery, and urology. The book aims to cover all the latest advances in newborn surgery, with contributions from the basic sciences and laboratory research to reflect the steady progress in our current working knowledge and understanding of many neonatal surgical disorders. As huge advances have been made in neonatal surgery in the past decades, ethical issues, long term outcomes, and quality of life are also emphasised. This book is an authoritative reference for surgical residents in training, consultant surgeons, general surgeons with an interest in paediatric surgery, neonatologists, paediatricians, intensive care specialists, and nursing staff.
Author: Ahmed H. Al-Salem
Publisher: Springer Nature
ISBN: 3030292118
Category : Medical
Languages : en
Pages : 896
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Book Description
This book provides a practical guide to the congenital and acquired problems related to pediatric surgery and urology. A range of topics are covered, including; abdominal wall hernias, hemangioma and vascular malformations, gastrochesis, achalasia, congenital gastric outlet obstruction, renal and liver tumors, intestinal malrotation, and hydronephrosis. The book aims to be a quick reference text for the diagnosis and treatment of pediatric surgery conditions and presents information relevant to general surgeons, pediatricians, pediatric surgeons, and medical trainees.
Author: Nenad Blau
Publisher: Springer
ISBN: 3642403379
Category : Medical
Languages : en
Pages : 880
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Book Description
This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
Author: Prem Puri
Publisher: Springer Nature
ISBN: 3030814882
Category : Medical
Languages : en
Pages : 1479
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Book Description
This comprehensive book provides detailed practical advice on the diagnosis and surgical management of congenital and acquired conditions in infants and children. Following the great success of the first edition, the new edition has been fully updated to reflect the major developments in the field of the past decade. Advances in prenatal diagnosis, imaging, anaesthesia and intensive care as well as the introduction of new surgical techniques, including minimally invasive surgery and robotic technology that have radically altered surgical conditions are now discussed in the book. In addition new chapters have been added on surgical safety in children, surgical problems of children with disabilities and surgical implications of HIV infection in children among others. This is a superbly structured and richly illustrated guide aimed at trainees, young pediatric surgeons and general surgeons with interest in pediatric surgery. The book also serves as a handy, quick and easy reference for those making decisions in daily practice. Pediatric Surgery, Diagnosis and Management features contributions by leading experts in pediatric surgery and pediatric urology who have unique experience in their respective fields.
Author: Linda M. Ernst
Publisher: Springer Nature
ISBN: 3030114252
Category : Medical
Languages : en
Pages : 429
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Book Description
The first edition of Color Atlas of Fetal and Neonatal Histology was an important step in updating the histology texts available to practicing pathologists and pathology trainees who perform fetal autopsy and/or participate in research involving fetal tissues. It was a well-received volume that filled a major gap in pathology references related to normal histology and provided a comprehensive, state-of-the art review of fetal and neonatal histology. While the basics of fetal histology have changed little in the intervening years since publication of the first edition, this successor edition provides new insights and a fresh perspective. This book contains six new chapters including: blood vessels and lymphatics, external genitalia, eye, ear, skin, and maceration changes. Many existing chapters have also been expanded to address a greater breadth of fetal and neonatal histology such as postnatal testis development and the cardiac conduction system. The “Special Considerations” sections were also expanded in many chapters to address particularly problematic issues within individual organ systems. The book reviews the histology of the major organ systems in the fetus and neonate and provides detailed images, up-to-date references, and practical guidelines for identifying tissues across all gestational ages of development. The second edition of Color Atlas of Fetal and Neonatal Histology serves as the ultimate go-to resource for pathologists and researchers dealing with, and interested in, fetal and neonatal histology. It provides a comprehensive summary of the current status of the field with excellent and extensive illustrative examples that help guide the clinical study of fetal and neonatal histology and stimulate investigative efforts with fetal tissue.
