نتایج جستجو برای: congenital hyperinsulinism

تعداد نتایج: 124753  

Journal: :Ugeskrift for laeger 2001
H B Christesen K Brusgaard B B Jacobsen

In the last five years, our knowledge about the heterogenous syndrome of congenital hyperinsulinism (HI) has expanded explosively. HI may be familiar or sporadic, mild or severe, transitory or persistent, and histologically focal or diffuse. At least 63 disease-causing mutations have been found in the genes for the beta cell's ATP-dependent potassium channel, whose elements are the sulphonylure...

Journal: :Yearbook of pediatric endocrinology 2022

Brief Summary: This paper discusses the use of Pluripotent Stem Cell (PSC)-derived pancreatic islets (SC-islets) for studying basic biology, molecular mechanisms and therapeutic potentials patients with congenital hyperinsulinism (CHI). The availability CHI patient opens new avenues research development treatments.

Journal: :Clinical chemistry 2008
A A Palladino M J Bennett C A Stanley

Hypoglycemia in infants and children can lead to seizures, developmental delay, and permanent brain damage. Hyperinsulinism (HI) is the most common cause of both transient and permanent disorders of hypoglycemia. HI is characterized by dysregulated insulin secretion, which results in persistent mild to severe hypoglycemia. The various forms of HI represent a group of clinically, genetically, an...

Journal: :Endocrines 2022

Congenital or monogenic hyperinsulinism (HI) is a group of rare genetic disorders characterized by dysregulated insulin secretion and the most common cause persistent hypoglycemia in children. Knowledge normal glucose homeostasis allows for better understanding underlying pathophysiology hyperinsulinemic hypoglycemia, facilitating timely diagnosis management. The goal management to prevent cere...

Journal: :The Journal of Clinical Endocrinology & Metabolism 2011

Journal: :Pediatrics 2004
Monique De Vroede N M A Bax Klaus Brusgaard Mark J Dunne Floris Groenendaal

Persistent hyperinsulinemic hypoglycemia of infancy or congenital hyperinsulinism of the neonate is a rare condition that may cause severe neurologic damage if the disease is unrecognized or inadequately treated. Current treatment aims to restore normal blood glucose levels by providing a carbohydrate-enriched diet and drugs that inhibit insulin secretion. If medical treatment fails, then surge...

Journal: :Hormone research 2008
Khalid Hussain

Hyperinsulinaemic hypoglycaemia is a cause of persistent hypoglycaemia in the neonatal and infancy periods. Prompt recognition and management of patients with hyperinsulinaemic hypoglycaemia are essential, if brain damage and long-term neurological sequelae are to be avoided. Hyperinsulinaemic hypoglycaemia can be transient, prolonged, or persistent (congenital). Advances in the fields of molec...

Journal: :Journal of Pediatric Surgery Case Reports 2021

Journal: : 2022

Spontaneous asymptomatic intrahepatic portosystemic shunt is a rare anomaly of the hepatic vasculature. The main clinical manifestations may be encephalopathy, bleeding or hyperinsulinism, due to constant shedding blood. This article presents case an congenital shunt, found in patient I., aged 25, with results various imaging methods, as well analysis types described vascular anomaly.

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