Neonatal cardiac hypertrophy: the role of hyperinsulinism—a review of literature
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Pediatrics"
DOI: 10.1007/s00431-019-03521-6
Abstract: Hypertrophic cardiomyopathy (HCM) in neonates is a rare and heterogeneous disorder which is characterized by hypertrophy of heart with histological and functional disruption of the myocardial structure/composition. The prognosis of HCM depends on the underlying… read more here.
Keywords: cardiac hypertrophy; diagnosis; hcm; review ... See more keywords
The etiology of cardiac hypertrophy in infants
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-90128-3
Abstract: This study aimed to describe the variety of etiologies currently identified in infants with cardiac hypertrophy (CH) and investigate whether there is a relation with hyperinsulinism, echocardiographic characteristics and prognosis. This retrospective cohort study included… read more here.
Keywords: cardiac hypertrophy; etiology; ivs; associated hyperinsulinism ... See more keywords
A unique allosteric insulin receptor monoclonal antibody that prevents hypoglycemia in the SUR-1−/− mouse model of KATP hyperinsulinism
Sign Up to like & getrecommendations! Published in 2018 at "mAbs"
DOI: 10.1080/19420862.2018.1457599
Abstract: ABSTRACT Loss-of-function mutations of the ß-cell ATP-sensitive potassium channels (KATP) cause the most common and severe form of congenital hyperinsulinism (KATPHI), a disorder of ß-cell function characterized by severe hypoglycemia. Children with KATPHI are typically… read more here.
Keywords: insulin receptor; hyperinsulinism; hypoglycemia; antibody ... See more keywords
Case for funding of continuous glucose monitoring systems for patients with recurrent hypoglycaemia
Sign Up to like & getrecommendations! Published in 2022 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2022-323872
Abstract: INTRODUCTION Continuous glucose monitoring (CGM) allows realtime interstitial glucose monitoring, therefore reducing the need for regular fingerprick blood testing. CGM also informs users of glucose trend data and alarms, which warns users of high or… read more here.
Keywords: cgm; glucose monitoring; recurrent hypoglycaemia; hyperinsulinism ... See more keywords
Congenital Hyperinsulinism: An Historical Perspective
Sign Up to like & getrecommendations! Published in 2022 at "Hormone Research in Paediatrics"
DOI: 10.1159/000526442
Abstract: Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in neonates, infants, and children. Since the first case descriptions in the 1950s, the field has advanced significantly. It was the development of the insulin… read more here.
Keywords: congenital hyperinsulinism; development; hyperinsulinism; historical perspective ... See more keywords
New Tools for Congenital Hyperinsulinism
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Pediatrics"
DOI: 10.1177/00099228211013648
Abstract: Congenital hyperinsulinism (CHI) is the most common cause of severe persistent hypoglycemia in infants with an estimated incidence of 1 in 50 000 live births.1 Treatment of CHI includes medical, surgical, or combined therapies: oral… read more here.
Keywords: hyperinsulinism; new tools; congenital hyperinsulinism; tools congenital ... See more keywords
Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism
Sign Up to like & getrecommendations! Published in 2021 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-021-02088-6
Abstract: Congenital hyperinsulinism (CHI), a major cause of persistent and recurrent hypoglycemia in infancy and childhood. Numerous pathogenic genes have been associated with 14 known genetic subtypes of CHI. Adenosine triphosphate-sensitive potassium channel hyperinsulinism (KATP-HI) is… read more here.
Keywords: chain hydroxyacyl; coenzyme dehydrogenase; short chain; hyperinsulinism ... See more keywords
SUN-269 Novel Mutation of the HNF1A Gene in a Patient with Congenital Hyperinsulinism
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the Endocrine Society"
DOI: 10.1210/js.2019-sun-269
Abstract: Abstract Background. Hyperinsulinism (HI) is diagnosed based on biochemical evidence of hypoglycemia associated with increased insulin secretion/action. Few individuals with HI harbor mutations in the HNF1A gene; they are hypoglycemic and responsive to diazoxide early… read more here.
Keywords: hnf1a gene; hyperinsulinism; blood; blood glucose ... See more keywords
SUN-270 Heterozygous Mutation in ABCC8 in a Pedigree with Congenital Hyperinsulinism, Multiple Macrosomic Stillbirths, and Adult-Onset Diabetes Mellitus
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the Endocrine Society"
DOI: 10.1210/js.2019-sun-270
Abstract: Abstract ABCC8 encodes the SUR-1 subunit of the ATP-sensitive potassium (K-ATP) channel on beta cells. Mutations in this gene are associated with K-ATP channel gain of function (diabetes mellitus) and loss of function (hyperinsulinism). We… read more here.
Keywords: onset diabetes; hyperinsulinism; adult onset; diabetes mellitus ... See more keywords
Activation of Protein Kinase A (PKA) signaling mitigates congenital hyperinsulinism associated hypoglycemia in the Sur1-/- mouse model
Sign Up to like & getrecommendations! Published in 2020 at "PLoS ONE"
DOI: 10.1371/journal.pone.0236892
Abstract: 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 hypoglycemia. In… read more here.
Keywords: associated hypoglycemia; hypoglycemia; congenital hyperinsulinism; hyperinsulinism associated ... See more keywords
Epileptic phenotype in late-onset hyperinsulinemic hypoglycemia successfully treated by diazoxide
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2020-0381
Abstract: Abstract Objectives Serious hyperinsulinemic hypoglycemia (HH) is generally the main initial symptom of hyperinsulinism. Epilepsy, without any overt feature of hypoglycemia, might be a very rare initial presentation of late-onset isolated hyperinsulinism. Case presentation We… read more here.
Keywords: late onset; hypoglycemia; epileptic phenotype; phenotype late ... See more keywords