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pediatric endocrine

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3 papers 0 to 25 followers
https://www.readbyqxmd.com/read/27753189/congenital-hypoglycemia-disorders-new-aspects-of-etiology-diagnosis-treatment-and-outcomes-highlights-of-the-proceedings-of-the-congenital-hypoglycemia-disorders-symposium-philadelphia-april-2016
#1
Diva D De Leon, Charles A Stanley
Hypoglycemia continues to be an important cause of morbidity in neonates and children. Prompt diagnosis and management of the underlying hypoglycemia disorder is critical for preventing brain damage and improving outcomes. Congenital hyperinsulinism (HI) is the most common and severe cause of persistent hypoglycemia in neonates and children. Recent discoveries of the genetic causes of HI have improved our understanding of the pathophysiology, but its management is complex and requires the integration of clinical, biochemical, molecular, and imaging findings to establish the appropriate treatment according to the subtype...
October 18, 2016: Pediatric Diabetes
https://www.readbyqxmd.com/read/26966265/how-well-does-the-capillary-thyroid-stimulating-hormone-test-for-newborn-thyroid-screening-predict-the-venous-free-thyroxine-level
#2
Tzveta Pokrovska, Jeremy Jones, M Guftar Shaikh, Sarah Smith, Malcolm D C Donaldson
OBJECTIVES: To determine, in newborn infants referred with elevated capillary thyroid-stimulating hormone (TSH), a threshold below which a frankly subnormal venous free thyroxine (fT4) level of <10 pmol/L is unlikely, so that treatment with levo-thyroxine (L-T4) might be deferred until venous thyroid function tests (TFTs) become available. SUBJECTS AND METHODS: All infants referred in Scotland since 1979 with capillary TSH elevation were studied, with particular focus on infants screened using the AutoDELFIA assay between 2002 and 2013...
June 2016: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/26578640/mechanisms-in-endocrinology-novel-genetic-causes-of-short-stature
#3
REVIEW
Jan M Wit, Wilma Oostdijk, Monique Losekoot, Hermine A van Duyvenvoorde, Claudia A L Ruivenkamp, Sarina G Kant
The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature...
April 2016: European Journal of Endocrinology
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