Results 41 to 50 of about 14,011 (206)

Case Report: The importance of genetic counseling for families with hyperinsulinism

Frontiers in Pediatrics
Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infancy. Genotype-phenotype correlations directly inform medical care for patients.
Victoria R. Sanders, Victoria R. Sanders, Katherine Lord, Katherine Lord, Katherine Lord, Winnie M. Sigal, Winnie M. Sigal, Winnie M. Sigal, Heather McKnight, Heather McKnight, N. Scott Adzick, N. Scott Adzick, Lisa J. States, Lisa J. States, Tricia Bhatti, Tricia Bhatti, Diva D. De Leon, Diva D. De Leon, Diva D. De Leon   +18 more
doaj   +1 more source

Arterial Calcium Stimulation with Hepatic Venous Sampling in the Localization Diagnosis of Endogenous Hyperinsulinism

International Journal of Endocrinology, 2016
Objective. The aim of this study was to assess the utility of arterial calcium stimulation with hepatic venous sampling (ASVS) in the localization diagnosis of endogenous hyperinsulinism. Patients and Methods.
Paloma Moreno-Moreno, María Rosa Alhambra-Expósito, Aura Dulcinea Herrera-Martínez, Rafel Palomares-Ortega, Luis Zurera-Tendero, Juan José Espejo Herrero, María Angeles Gálvez-Moreno   +6 more
doaj   +1 more source

A combination of nifedipine and octreotide treatment in an hyperinsulinemic hypoglycemic infant. [PDF]

, 2016
PublishedResearch Support, Non-U.S. Gov'tThis is the final version of the article. Available from Galenos Publishing via the DOI in this record.Hyperinsulinemic hypoglycemia (HH) is the commonest cause of persistent hypoglycemia in the neonatal and ...
Akcurin, S, Bircan, I, Durmaz, E, Ellard, S, Flanagan, SE, Parlak, M   +5 more
core   +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

Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics

British Journal of Clinical Pharmacology, EarlyView.
Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay, Amandine Manon, Hunter Stephens, S. Y. Amy Cheung, Bart de Keizer, Erik T. te Beek   +5 more
wiley   +1 more source

Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion [PDF]

, 2001
A female infant of nonconsanguineous Indian parents presented at 4 months with a hypoglycemic convulsion. Further episodes of hypoketotic hypoglycemia were associated with inappropriately elevated plasma insulin concentrations.
Aynsley-Green, A, Berger, R, Clayton, PT, Datta, V, Eaton, S, Edginton, M, Hussain, K, Krywawych, S, Malingre, HEM, van den Berg, IET   +9 more
core  

Heterogeneity in Phenotype of Usher-Congenital Hyperinsulinism Syndrome:Hearing Loss, Retinitis Pigmentosa, and Hyperinsulinemic Hypoglycemia Ranging from Severe to Mild with Conversion to Diabetes [PDF]

, 2013
OBJECTIVE: To evaluate the phenotype of 15 children with congenital hyperinsulinism (CHI) and profound hearing loss, known as Homozygous 11p15-p14 Deletion syndrome (MIM #606528).
Al Mutair, Angham N, Al Shaikh, Adnan, Bin-Abbas, Bassam, Brusgaard, Klaus, Christesen, Henrik T, Felimban, Naila, Hussain, Khalid   +6 more
core   +1 more source

A Multicenter Experience with Long-Acting Somatostatin Analogues in Patients with Congenital Hyperinsulinism [PDF]

, 2017
Background/Aims: Congenital hyperinsulinism (CHI) is a rare disease characterized by recurrent severe hypoglycemia. In the diffuse form of CHI, pharmacotherapy is the preferred choice of treatment.
Banerjee, Indraneel, Boot, Annemieke M., Christesen, Henrik Thybo, Empting, Susann, Mohnike, Klaus, Rasmussen, Amalie Greve, Salomon-Estebanez, Maria, Stuart, Annemarie Verrijn, van Albada, Mirjam E., van der Linde, Annelieke A. A., van der Steen, Ivo   +10 more
core   +4 more sources

Opening closed inward rectifier potassium channel doors

British Journal of Pharmacology, EarlyView.
Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger, Fabian Kaiser, Marcel A. G. van der Heyden, Saïd Bendahhou   +3 more
wiley   +1 more source

Nouveautés radiologiques dans le dépistage et le diagnostic des erreurs innées du métabolisme [PDF]

, 2005
Les maladies héréditaires du métabolisme ont acquis une place de plus en plus importante dans la pathologie pédiatrique. Leur nombre ne cesse d’augmenter au fur et à mesure de la progression des connaissances en biologie cellulaire et des progrès ...
Boddaert, Nathalie, Brunelle, Francis, de Lonlay, Pascale, Mention, Karine, Nihoul-Fékété, Claire, Ribeiro, Maria, Touati, Guy, Valayanopoulos, Vassili   +7 more
core   +1 more source