Results 101 to 110 of about 6,576 (240)

Estudio PET-TC con 18F-fluoro-L-DOPA combinado con el análisis genético para la optimización de la clasificación y tratamiento de un niño con hiperinsulinismo congénito grave [PDF]

, 2009
BACKGROUND: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in infancy. The differential diagnosis between focal and diffuse forms of CHI is of great importance when planning surgery. The aim of this article is to
Arbizu, J. (Javier), Azcona-San-Julian, M.C. (María Cristina), Carracedo, A. (A.), Fernandez-Marmiesse, A. (A.), Garrastachu, P. (P.), Martino, E. (E.), Richter, J.A. (José Ángel)   +6 more
core  

Visual interpretation, not SUV ratios, is the ideal method to interpret 18F-DOPA PET scans to aid in the cure of patients with focal congenital hyperinsulinism.

PLoS ONE, 2020
IntroductionCongenital hyperinsulinism is characterized by abnormal regulation of insulin secretion from the pancreas causing profound hypoketotic hypoglycemia and is the leading cause of persistent hypoglycemia in infants and children.
Pradeep K Garg, Burton Putegnat, Lisa Truong, Courtney Reynolds, Irene Sanchez, Jonathan K Nedrelow, John Uffman, Stephen J Lokitz, Rachid Nazih, Sudha Garg, Paul S Thornton   +10 more
doaj   +1 more source

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population

American Journal of Medical Genetics Part A, Volume 194, Issue 8, August 2024.
Abstract Mental illnesses are one of the biggest contributors to the global disease burden. Despite the increased recognition, diagnosis and ongoing research of mental health disorders, the etiology and underlying molecular mechanisms of these disorders are yet to be fully elucidated.
Venuja Sriretnakumar, Ricardo Harripaul, James L. Kennedy, Joyce So   +3 more
wiley   +1 more source

Clinical practice guidelines for congenital hyperinsulinism

Clinical Pediatric Endocrinology, 2017
Congenital hyperinsulinism is a rare condition, and following recent advances in diagnosis and treatment, it was considered necessary to formulate evidence-based clinical practice guidelines reflecting the most recent progress, to guide the practice of neonatologists, pediatric endocrinologists, general pediatricians, and pediatric surgeons.
Shinobu Ida, Reiko Horikawa, Yutaka Kanamori, Hideyuki Sasaki, Yoshiaki Kinoshita, Masanori Adachi, Masanori Minagawa, Tohru Yorifuji, Tomonobu Hasegawa, Hiroaki Kitagawa, Masato Shinkai, Takeo Yonekura, Masaki Nio, Shun Soneda   +13 more
openaire   +3 more sources

Persistent hyperinsulinism in Kabuki syndrome 2: case report and literature review

Clinics and Practice, 2016
Kabuki syndrome is a clinically and genetically heterogeneous congenital malformation syndrome with protean clinical manifestations. This reflects the important epigenetic role in embryonic development of the two genes currently known to be associated ...
Hobia Gole, Raymond Chuk, David Coman
doaj   +1 more source

Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes [PDF]

, 2018
Congenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory defects, being ABCC8/KCNJ11 the most commonly affected genes.
Barreiro Conde, Jesús, Cabanas Rodríguez, Paloma, Carracedo Álvarez, Ángel María, Castro Feijóo, Lidia, Fernández Marmiesse, Ana, Rego Sanmartín, María Teresa, Saborido Fiaño, Rebeca, Simões, Helder, Sousa Santos, Francisco   +8 more
core   +1 more source

Education program for caregivers in congenital central hypoventilation syndrome: Initiation and experience families

Pediatric Pulmonology, Volume 59, Issue 12, Page 3777-3782, December 2024.
Delphine Micaelli, Zina Ghelab, Christophe Delclaux, Caroline Artu‐Dumont, Maxime Patout, Fleur Le Bourgeois, Stéphane Dauger, Plamen Bokov, Benjamin Dudoignon   +8 more
wiley   +1 more source

Assessing the consequences of gestational diabetes mellitus on offspring's cardiovascular health: MySweetHeart Cohort study protocol, Switzerland. [PDF]

, 2017
Gestational diabetes mellitus (GDM) is a state of glucose intolerance with onset during pregnancy. GDM carries prenatal and perinatal risks as well as long-term risks for the mother and her child.
Bovet, P., Chiolero, A., Di Bernardo, S., Epure, A.M., Estoppey Younes, S., Mivelaz, Y., Sekarski, N., Simeoni, U., Vial, Y.   +8 more
core   +1 more source

Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: effect of treatment [PDF]

, 2000
OBJECTIVE: The combination of persistent hyperammonemia and hypoketotic hypoglycemia in infancy presents a diagnostic challenge. Investigation of the possible causes and regulators of the ammonia and glucose disposal may ...
Duran, M. (Marinus), Huijmans, J.G.M. (Jan), Klerk, J.B.C. (Johannes) de, Rovers, M.J., Scholte, H.R. (Hans)   +4 more
core  

Congenital hyperinsulinism: current trends in diagnosis and therapy [PDF]

, 2011
Congenital hyperinsulinism (HI) is an inappropriate insulin secretion by the pancreatic β-cells secondary to various genetic disorders. The incidence is estimated at 1/50, 000 live births, but it may be as high as 1/2, 500 in countries with substantial ...
Aigrain, Yves, Arnoux, Jean-Baptiste, Bellanné-Chantelot, Christine, Brassier, Anaïs, Brunelle, Francis, de Lonlay, Pascale, Fournet, Jean-Christophe, Montravers, Françoise, Robert, Jean-Jacques, Saint-Martin, Cécile, Valayannopoulos, Vassili, Verkarre, Virginie   +11 more
core   +3 more sources