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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 localiza...
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 pr...
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Vols. for 1963- include as pt. 2 of the Jan. issue: Medical subject headings.
Advances in Pediatrics reviews the year's most important findings and updates within the field in order to provide pediatricians and primary care providers with the current clinical information they need to improve patient outcomes. A distinguished editorial board, led by Dr. Carol Berkowitz, identifies key areas of major progress and controversy and invites preeminent specialists to contribute original articles devoted to these topics. These insightful overviews in pediatrics inform and enhance clinical practice by bringing concepts to a clinical level and exploring their everyday impact on patient care. - Contains over 15 articles on such topics as Management of Congenital Adrenal Hyperpla...
Roadtripping across the country has been a rite of passage for generations. From Jack Kerouac and Neal Cassady’s On the Road, to Easy Rider to Thelma and Louise, the journey is the destination, and in Frommer’s MTV US Roadtrips, the old school travel guides and cutting edge authors combine their talents and resources for 10 eclectic rides. Maya Kroth pursues the ‘cue from Austin to Charlotte in a Southern BBQ Roadtrip Ethan Wolff visits the Desert Southwest, on the trail of the first Americans Ashley Marinaccio stays at haunted hotels in search of the unexplained and paranormal, in the Weird Northeast. Our other authors go everywhere from Down the Shore, through the Urban Heartland, and on a tour of West Coast Underground Rock Clubs.
Hypoglycemia in infants and children is common and is caused by a number of sources. Childhood hypoglycemia has the potential to cause brain damage leading to lifelong neurodisability. However, definitions and clinical management of hypoglycemia remain variable, given uncertainty over thresholds of harm and absence of robust clinical evidence for appropriate treatment. It is important to synthesize our current understanding of the etiology of mild and severe forms of hypoglycemia to formulate treatment strategies that are effective and cause minimal harm.