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Case report: Duplication of the gene is a novel cause of nesidioblastosis: evidence from a case with Silver-Russell syndrome-like phenotype related to chromosome 7.
Front Endocrinol (Lausanne)
December 2024
Medical Research Institute KITANO HOSPITAL, PIIF Tazuke-kofukai, Osaka, Japan.
Silver-Russell syndrome (SRS) is a syndrome characterized by prenatal and postnatal growth retardation, facial features, and body asymmetry. SRS is often complicated with hypoglycemia, whose etiology is unclear. We describe the clinical course of 25-year-old man with hypoglycemia.
View Article and Find Full Text PDFDiazoxide toxicity in congenital hyperinsulinism: A case report.
World J Clin Pediatr
December 2024
Department of Pediatrics, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Institute, Milan 20132, Lombardy, Italy.
Background: Diazoxide is the sole approved drug for congenital hyperinsulinism; however, diuretic administration and vigilant monitoring are crucial to prevent and promptly identify potentially life-threatening adverse effects. This report aims to highlight a seldom-considered rare side effect of diazoxide. We believe that this brief report is of general interest to readership and increase the physicians' awareness of the guideline importance.
View Article and Find Full Text PDFGenetic Variations in Hyperinsulinemic Hypoglycemia: Active versus Inactive Mutations.
Diabetes Metab Syndr Obes
November 2024
Department of Pharmaceutical Technology, Jordan University of Science and Technology, Irbid, Jordan.
Article Synopsis
- Hyperinsulinemic Hypoglycemia (HH) is a rare condition in newborns characterized by low blood glucose levels, posing serious risks particularly to brain health without proper treatment.
- It can be caused by mutations in 16 genes related to glucose metabolism and insulin release, which can affect pancreatic beta cells either diffusely or locally.
- The review focuses on genetic variations, diagnosis, and treatment options for Hyperinsulinemic Hypoglycemia.
Single center experience in localization of insulinoma by selective intraarterial calcium stimulation angiography - a case series of 15 years.
Front Endocrinol (Lausanne)
November 2024
Division of Endocrinology, Department of Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
Article Synopsis
- * A study was conducted on 9 patients with unexplained high insulin levels, where a calcium stimulation test helped target the insulinoma to specific areas of the pancreas, which standard imaging couldn't identify.
- * Results showed increased insulin levels in 5 patients post-test, confirming the presence of insulinomas or nesidioblastosis in several cases, while some patients were treated medically instead of surgically.
Occult Nesidioblastosis Detected by 111In-Pentetreotide Single-Photon Emission Computed Tomography.
Acta Med Okayama
October 2024
Department of Gastroenteorlogical Surgery, Kochi Health Sciences Center.
Nesidioblastosis, also known as persistent hyperinsulinemic hypoglycemia, is usually observed in children and infants, although more recently adult-onset nesidioblastosis has also been described. We present a case of nesidioblastosis in a 78-year-old man that was detected by 111In-pentetreotide single photon emission computed tomography (SPECT/CT). The patient was transferred to our hospital's emergency department in a hypoglycemic coma.
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