Results 61 to 70 of about 14,238 (246)

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

Complexities in the medical management of hypoglycaemia due to congenital hyperinsulinism

Clinical Endocrinology, 2020
Congenital Hyperinsulinism (CHI) is a rare disease of hypoglycaemia but is the most common form of recurrent and severe hypoglycaemia causing brain injury and neurodisability in children.
C. Worth, D. Yau, Maria Salomon Estebanez, E. O'shea, K. Cosgrove, M. Dunne, I. Banerjee   +6 more
semanticscholar   +1 more source

Sex‐specific white matter alterations in children exposed to high pregestational BMI

Obesity, EarlyView.
Abstract Objective This study investigated whether exposure to high pregestational BMI (≥ 25 kg/m2) is associated with alterations in white matter microstructure in early childhood, explored sex‐specific effects, and examined associations with cognitive performance. Methods A total of 90 children from the Alberta Pregnancy Outcomes and Nutrition (APrON)
Samson Nivins, Jess Reynolds, Gerald F. Giesbrecht, Deborah Dewey, Nicole Letourneau, Catherine Lebel   +5 more
wiley   +1 more source

Facial Dysmorphic Features in a Patient With Nonketotic Hypoglycemia and a Pathogenic Variant in the AKT2 Gene

AACE Clinical Case Reports, 2022
Background/Objective: AKT2 is a serine/threonine kinase that plays a key role in regulating insulin signaling. The phenotype related to the gain-of-function alteration in the AKT2 gene (c.49G>A, p.Glu17Lys) has been described in 5 patients with clinical ...
Maria Fernanda Ochoa Molina, MD, Helena Poggi, Valeria De Toro, Carolina Mendoza, Khalid Hussain   +4 more
doaj  

Facilitators and barriers to establishing lactation among women with diabetes?

Diabetic Medicine, EarlyView.
Abstract Aim To identify the facilitators and barriers to establishing lactation among women with diabetes in pregnancy. Methods A qualitative descriptive study involving face‐to‐face semi‐structured interviews with 13 postpartum women. An inductive, data‐driven content analysis approach was utilised.
Denise McGuinness, Usha Daniel, Denise O. Brien   +2 more
wiley   +1 more source

The Potential of SGLT-2 Inhibitors in the Treatment of Polycystic Ovary Syndrome: The Current Status and Future Perspectives

Biomedicines, 2023
Polycystic ovary syndrome (PCOS) is the most frequent endocrinopathy during women’s reproductive age. PCOS is a heterogeneous disorder featuring specific cardiometabolic properties.
Dejana Rakic, Vladimir Jakovljevic, Nikola Jovic, Marija Bicanin Ilic, Aleksandra Dimitrijevic, Tatjana Vulovic, Petar Arsenijevic, Jasmina Sretenovic, Maja Nikolic, Vladimir Petrovich Fisenko, Stefani Bolevich, Gala Zarkovic, Jovana Joksimovic Jovic   +12 more
doaj   +1 more source

Congenital hyperinsulinism disorders: Genetic and clinical characteristics

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in infants and children. Delays in diagnosis and initiation of appropriate treatment contribute to a high risk of neurocognitive impairment.
Elizabeth Rosenfeld, A. Ganguly, Diva D. De León   +2 more
semanticscholar   +1 more source

An overview of current prenatal genetic screening and diagnosis guidelines

Pregnancy, Volume 1, Issue 3, May 2025.
Abstract The landscape of prenatal genetics continues to evolve rapidly, with improvements in processing speed and technology. Clinicians are tasked with staying current with the latest recommendations for prenatal genetic screening and diagnosis in order to provide patient‐centered and evidence‐based care. We present a review of 15 societal guidelines
Carmen M. A. Santoli, Sarah K. Dotters‐Katz, Teresa N. Sparks, Jeffrey A. Kuller   +3 more
wiley   +1 more source

Insulin-induced lipid binding to hemoglobin [PDF]

Journal of the Serbian Chemical Society, 2003
Under hypoglycemic conditions, concomitant hyperinsulinism causes an apparent modification of hemoglobin (Hb) which is manifested by its aggregation (Niketić et al., Clin. Chim. Acta 197 (1991) 47).
Tomašević Nenad, Nikolić Milan R., Klappe Karen, Hoekstra Dick, Niketić Vesna P.   +4 more
doaj   +1 more source

Characteristics of Children and Adolescents with Hyperinsulinemia Undergoing Oral Glucose Tolerance Test: A Single-Center Retrospective Observational Study

Diseases, 2023
The aim of this study was to evaluate a potential correlation between results of the oral glucose tolerance test (OGTT) and the auxological/metabolic parameters in a cohort of overweight patients assessed for suspicion of hyperinsulinism. We analyzed 206
Clelia Cipolla, Ilaria Lazzareschi, Antonietta Curatola, Claudia Lasorella, Lucia Celeste Pane, Linda Sessa, Giulia Rotunno, Donato Rigante, Giorgio Sodero   +8 more
doaj   +1 more source