Results 71 to 80 of about 510,633 (288)

Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism

Clinical Case Reports, 2020
Advances in genomics and 18F‐DOPA PET‐CT imaging have transformed the management of infants with Congenital Hyperinsulinism. Preoperative diagnosis of focal hyperinsulinism permits limited pancreatectomy with improved clinical outcomes while knowledge of
Caroline M. Joyce, Jayne A. Houghton, Domhnall J. O’Halloran, Paula M. O’Shea, Susan M. O’Connell   +4 more
doaj   +1 more source

Congenital hyperinsulinism in newborns and young children: the state of the problem and the results of surgical treatment

Медицинский совет, 2021
Congenital hyperinsulinism causes irreversible damage to the cerebral cortex with subsequent disability in children. The article presents the features of etiopathogenesis, clinical picture of the disease.
A. A. Sukhotskaya, V. G. Bairov, I. L. Nikitina, L. B. Mitrofanova, A. A. Perminova, D. V. Ryzhkova   +5 more
doaj   +1 more source

Molecular genetic diagnosis and treatment of congenital hyperinsulinism: results of observation of patients with variants in the genes ABCC8 and KCNJ11

Pediatrician (St. Petersburg), 2023
Congenital hyperinsulinism is a rare hereditary disease characterized by inadequate hypersecretion of insulin by pancreatic -cells, clinically manifested by persistent hypoglycemia, which poses a great threat to patient survival and a high risk of ...
D. Ivanov, L. Ditkovskaya, Olga I. Maryina, M. Turkunova, E. N. Suspitsin, Olga S. Yankovskaya   +5 more
semanticscholar   +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 [PDF]

, 2020
ongenital 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 ...
Ellard, Sian, Flanagan, S. E., Houghton, Jayne A. L., Laver, T. W.   +3 more
core   +2 more sources

Successful laparoscopic resection of a rare focal form of congenital hyperinsulinism: Case report and literature review

Russian Journal of Pediatric Surgery, Anesthesia and Intensive Care, 2023
Congenital hyperinsulinism is a severe disease that causes irreversible damage to the cerebral cortex. This article presents a clinical observation of successful surgical treatment for a child with an extremely rare form of hyperinsulinism accompanied by
A. Sukhotskaya, I. Kagantsov, V. Bairov, M. G. Vitovshchik, I. Nikitina, D. Ryzhkova, L. Mitrofanova, L. R. Sarakaeva   +7 more
semanticscholar   +1 more source

Molecular mechanisms of congenital hyperinsulinism [PDF]

Journal of Molecular Endocrinology, 2015
Congenital hyperinsulinism (CHI) is a complex heterogeneous condition in which insulin secretion from pancreatic β-cells is unregulated and inappropriate for the level of blood glucose. The inappropriate insulin secretion drives glucose into the insulin-sensitive tissues, such as the muscle, liver and adipose tissue, leading to severe hyperinsulinaemic
Khalid Hussain, Azizun Nessa, Sofia Rahman   +2 more
openaire   +3 more sources

Congenital hyperinsulinsim: case report and review of literature

The Pan African Medical Journal, 2020
Neonatal hypoglycemia (NH) is one of the most common abnormalities encountered in the newborn. Hypoglycemia continues to be an important cause of morbidity in neonates and children.
Brahim El Hasbaoui, Abdelhkim Elyajouri, Rachid Abilkassem, Aomar Agadr   +3 more
doaj   +1 more source

Successful use of long acting octreotide in two cases with Beckwith-Wiedemann syndrome and severe hypoglycemia [PDF]

, 2014
INTRODUCTION: Hyperinsulinism associated with Beckwith-Wiedemann syndrome (BWS) can occur in about 50% of cases, causing hypoglycemia of variable severity. Parenteral use of octreotide may be indicated if unresponsive to diazoxide.
Hiba Al-Zubeidi, Michael E Gottschalk, Ron S Newfield   +2 more
core   +1 more source

Variation in Glycemic Outcomes in Focal Forms of Congenital Hyperinsulinism - The UK Perspective [PDF]

, 2022
Context: In focal congenital hyperinsulinism (CHI), localized clonal expansion of pancreatic β-cells causes excess insulin secretion and severe hypoglycemia. Surgery is curative, but not all lesions are amenable to surgery.
Banerjee, I, Biassoni, L, Bomanji, J, Craigie, RJ, Dastamani, A, De Coppi, P, Didi, M, Dunne, MJ, Flanagan, SE, Gilbert, C, Houghton, JAL, Morgan, K, Sajjan, R, Senniappan, S, Shah, P, Yau, D   +15 more
core   +1 more source

CLINICAL CASE OF CONGENITAL HYPERINSULINISM

Neonatology surgery and perinatal medicine, 2023
Introduction. Congenital hyperinsulinism (HI) is a hereditary disease characterized by inadequate insulin hypersecretion by pancreatic beta-cells and leading to hypoglycemia.
M. Aryayev, T. Voloshchuk, I. Kuzmenko, L. Vyhodchenko, D. Usenko   +4 more
semanticscholar   +1 more source