Results 51 to 60 of about 6,576 (240)

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 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

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

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

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

Congenital Hyperinsulinism: Diagnosis and Treatment Update

Journal of Clinical Research in Pediatric Endocrinology, 2018
Pancreatic β-cells are finely tuned to secrete insulin so that plasma glucose levels are maintained within a narrow physiological range (3.5-5.5 mmol/L). Hyperinsulinaemic hypoglycaemia (HH) is the inappropriate secretion of insulin in the presence of low plasma glucose levels and leads to severe and persistent hypoglycaemia in neonates and children ...
Hüseyin Demirbilek, Khalid Hussain
openalex   +5 more sources

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

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   +2 more sources

Strategies for optimization of hypoglycemia rat models

Animal Models and Experimental Medicine, EarlyView.
This review focuses on rat models for studying the short‐term and long‐term effects of mild and severe hypoglycemia. We explored the physiological mechanisms to understand the consequences of hypoglycemia in rat experimental models. This study sheds light on uncovering the therapeutic potential for hypoglycemic patients and its efficacy in mitigating ...
Lee Yeong Zher, Eason Kong Qi Zheng, Rayneshia Elaura Raymond, Ye Zhen Jie, Christina Gertrude Yap   +4 more
wiley   +1 more source