Results 51 to 60 of about 10,576 (237)

Clinical characteristics, outcome, and predictors of neurological sequelae of persistent congenital hyperinsulinism: A single tertiary center experience

Pediatric Diabetes, 2021
Congenital hyperinsulinism (CHI) is a heterogeneous disease with variable genetic etiology, histopathology, and clinical phenotype. This study aims to describe the clinical characteristics of persistent CHI and evaluate long‐term neurological outcome and
W. Laimon, H. Aboelenin, Noha T. El Tantawi   +2 more
semanticscholar   +1 more source

Management and appropriate use of diazoxide in infants and children with hyperinsulinism.

Journal of Clinical Endocrinology and Metabolism, 2020
BACKGROUND The diagnosis of hypoglycemia and the use of diazoxide have risen in the last decade. Diazoxide is the only FDA-approved pharmacologic treatment for neonatal hypoglycemia caused by hyperinsulinism (HI).
P. Brar, Ryan Heksch, Kristina Cossen, Diva D. De León, M. Kamboj, Seth D. Marks, B. Marshall, Ryan Miller, Laura C. Page, T. Stanley, Deborah M Mitchell, P. Thornton   +11 more
semanticscholar   +1 more source

Activation of Protein Kinase A (PKA) signaling mitigates congenital hyperinsulinism associated hypoglycemia in the Sur1-/- mouse model.

PLoS ONE, 2020
There is a significant unmet need for a safe and effective therapy for the treatment of children with congenital hyperinsulinism. We hypothesized that amplification of the glucagon signaling pathway could ameliorate hyperinsulinism associated ...
Mangala M Soundarapandian, Christine A Juliana, Jinghua Chai, Patrick A Haslett, Kevin Fitzgerald, Diva D De León   +5 more
doaj   +1 more source

Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389

PLoS ONE, 2020
Congenital hyperinsulinism (CHI) is a significant cause of hypoglycaemia in neonates and infants with the potential for permanent neurologic injury. Accurate calculations of the incidence of rare diseases such as CHI are important as they inform health ...
D. Yau, T. Laver, A. Dastamani, S. Senniappan, J. Houghton, G. Shaikh, T. Cheetham, T. Mushtaq, R. Kapoor, T. Randell, S. Ellard, P. Shah, I. Banerjee, S. Flanagan   +13 more
semanticscholar   +1 more source

Characterization of the zebrafish as a model of ATP-sensitive potassium channel hyperinsulinism

BMJ Open Diabetes Research & Care
Introduction Congenital hyperinsulinism (HI) is the leading cause of persistent hypoglycemia in infants. Current models to study the most common and severe form of HI resulting from inactivating mutations in the ATP-sensitive potassium channel (KATP) are
Diva D De León, Christine A Juliana, Joshua Benjet   +2 more
doaj   +1 more source

Hyperinsulinemic Hypoglycemia and Growth Hormone Deficiency Secondary to 20p11 Deletion

Case Reports in Endocrinology, 2023
Hypoglycemia is concerning for neurological complications in infants and children. Determining the cause of hypoglycemia is essential in providing appropriate treatment.
Erica Wee, John Herriges, Kavitha Dileepan, Sarah L. Tsai, Joseph T. Alaimo, Emily Paprocki   +5 more
doaj   +1 more source

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations

, 2010
Objective: The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY).
Shield, JPH, Kapoor, RR, Hussain, K., Rubio-Cabezas, O., Kapoor, R. R., Banerjee, I, Sianhanidou, T, Siahanidou, T., Flanagan, SE, Akcay, T, Akcay, T., Cody, D., Siahanidou, T, Hussain, K, Ellard, S., Mali, G, Cody, D, Shield, JP, Shield, J. P. H., Rubio-Cabezas, O, Mali, G., Schwahn, B., Flanagan, S. E., Murphy, N, Murphy, N., Banerjee, I., Ellard, S, Schwahn, B   +27 more
core   +1 more source

Real-world experience with the use of diazoxide among people living with congenital hyperinsulinism and their caregivers

Frontiers in Endocrinology
IntroductionCongenital hyperinsulinism (HI) is a rare disease that causes severe hypoglycemia. Diazoxide is the first-line treatment; however, many individuals using diazoxide continue to experience hypoglycemia. Diazoxide is associated with side effects
Tai L. S. Pasquini, Kristen E. Rohli, Fiona J. Almeida, Indraneel Banerjee, Antonia Dastamani, Diva D. De Leon, Lauren N. Lopez, Paul S. Thornton, Julie Raskin   +8 more
doaj   +1 more source

The diagnosis and management of congenital and adult-onset hyperinsulinism (nesidioblastosis) – literature review

, 2017
Congenital and adult-onset hyperinsulinism (CHI) must be taken under consideration in the differential diagnosis of hypoglycaemia symptoms with endogenous hyperinsulinism, especially in cases in which there was failure to find an insulinoma. Histological
Andrzej Marszałek, Adam M. Kowalewski, Łukasz Szylberg, Anna Kasperska   +3 more
core   +1 more source

Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation [PDF]

, 2018
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children. Recessive inactivating mutations in the ABCC8 and KCNJ11 genes account for approximately 50% of all CHI cases.
Işık, E., Hussain, K., Jayne A L Houghton, Demirbilek, Hüseyin, Khalid Hussain, Demirbilek, H., Houghton, Jayne A., Emregül Işık, Flanagan, Sarah E., Jayne A. Houghton, Sian Ellard, Isik, Emregul, Flanagan, S. E., Sarah E. Flanagan, Hussain, Khalid, Hüseyin Demirbilek, Houghton, J. A. L., Işık, Emregül, Ellard, Sian   +18 more
core   +1 more source