Results 1 to 10 of about 14,011 (206)

Avaliação do hiperinsulinismo em amostra de crianças pré-puberes Hyperinsulinism assessment in a sample of prepubescent children [PDF]

Jornal de Pediatria, 2010
OBJETIVOS: Determinar a relação entre o índice de massa corporal (IMC), o homeostasis model assessment - insulin resistance (HOMA-IR) e a insulinemia. MÉTODOS: Realizou-se um estudo observacional prospectivo transversal com 132 crianças pré-púberes em ...
Stephanye Felicye Armecy Mieldazis, Ligia Ajaime Azzalis, Virginia Berlanga Campos Junqueira, Fabíola Isabel Suano Souza, Roseli Oselka Sacardo Sarni, Fernando Luiz Affonso Fonseca   +5 more
doaj   +9 more sources

Identification of an ABCC8 variant in a kindred with transient diazoxide responsive hyperinsulinism [PDF]

Endocrinology, Diabetes & Metabolism Case Reports
Congenital hyperinsulinism is a rare disorder characterized by hypoglycemia and inappropriately elevated insulin levels. The genetics of congenital hyperinsulinism is complex, with the most common cause being pathogenic variants in the ATP-sensitive ...
Ryan L Smith, Stephen I Stone
doaj   +2 more sources

Hyperinsulinism

Endocrines, 2022
Congenital or monogenic hyperinsulinism (HI) is a group of rare genetic disorders characterized by dysregulated insulin secretion and is the most common cause of persistent hypoglycemia in children.
Ethel Gonzales Clemente, Shibani Kanungo, Christine Schmitt, Dana Maajali   +3 more
doaj   +2 more sources

Severe transient neonatal hyperinsulinism: First Peruvian case series [PDF]

SAGE Open Medical Case Reports
Congenital hyperinsulinism is characterized by dysregulated insulin secretion and is the most common and severe cause of persistent hypoglycemia in pediatrics. Brain damage rates can be as high as 50% due to inadequate treatment.
Manuel André Virú-Loza, Francesca Bermudez-Paredes, Isabel Milagros Arauco-Carhuas   +2 more
doaj   +2 more sources

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

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   +2 more sources

Congenital Hyperinsulinism India Association: An Approach to Address the Challenges and Opportunities of a Rare Disease [PDF]

Medical Sciences
India’s population complexity presents varied challenges in genetic research, and while facilities have gained traction in tier-1 and -2 cities, reliance on international collaborations often delays such investigations.
Jaikumar B. Contractor, Venkatesan Radha, Krati Shah, Praveen Singh, Sunil Tadepalli, Somashekhar Nimbalkar, Viswanathan Mohan, Pratik Shah   +7 more
doaj   +2 more sources

Developing a congenital hyperinsulinism prioritized research agenda: a patient-driven international collaborative research network [PDF]

Frontiers in Endocrinology
IntroductionCongenital Hyperinsulinism (HI) is a rare disease that causes severe and recurrent hypoglycemia due to dysregulated insulin secretion. HI is the most frequent cause of severe, persistent hypoglycemia in newborns and children.
Tai L. S. Pasquini, Indraneel Banerjee, Henrik Thybo Christesen, Louise S. Conwell, Antonia Dastamani, Diva D. De Leon, Sarah E. Flanagan, David Gillis, Jennifer M. Kalish, Katherine Lord, Mahlet Mesfin, Jennifer Schmitt, Senthil Senniappan, Charles A. Stanley, Paul S. Thornton, David Zangen, Julie Raskin, the Congenital Hyperinsulinism Collaborative Research Network Members   +17 more
doaj   +2 more sources

Variables associated with endogenous hyperinsulinism in hypoglycemia diagnosis. Could the 72-hour fasting test be shortened in low-risk patients? [PDF]

Journal of Clinical & Translational Endocrinology
Background: The 72-hour fasting test remains the standard for the diagnosis of endogenous hyperinsulinism. We investigated which variables could identify patients at low risk for endogenous hyperinsulinism, in whom a shortening of the 72-hour fasting ...
Tomás González-Vidal, Óscar Lado-Baleato, Inés Masid, Carmen Gándara-Gutiérrez, Gema Martínez-Tamés, Jessica Ares, Carmen Lambert, María Riestra-Fernández, Francisco Gude, Elías Delgado, Edelmiro Menéndez-Torre   +10 more
doaj   +2 more sources

Case Report: Food-based enteral formula in the nutritional management of children with hyperinsulinism: single center retrospective case series [PDF]

Frontiers in Endocrinology
ContextHyperinsulinism is characterized by dysregulated insulin secretion and is typically associated with reduced fasting tolerance. Long-term hyperinsulinism management includes nutrition and medication to normalize plasma glucose levels. Management of
Graeme O’Connor, Lauren Cheng, Annaruby Cunjamalay   +2 more
doaj   +2 more sources

A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA) [PDF]

JIMD Reports
Combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism caused by a deficiency in mitochondrial malonyl‐CoA synthetase, the enzyme responsible for activating malonic acid (MA) to malonyl‐CoA, a precursor of lipoic acid.
Vincenza Gragnaniello, Alfonso Galderisi, Sara Tucci, Mara Doimo, Marianna Caterino, Christian Loro, Chiara Cazzorla, Margherita Ruoppolo, Leonardo Salviati, Alberto B. Burlina   +9 more
doaj   +2 more sources