Results 51 to 60 of about 14,092 (208)

The molecular mechanisms, diagnosis and management of congenital hyperinsulinism

open access: yesIndian Journal of Endocrinology and Metabolism, 2013
Congenital hyperinsulinism (CHI) is the result of unregulated insulin secretion from the pancreatic β-cells leading to severe hypoglycaemia. In these patients it is important to make an accurate diagnosis and initiate the appropriate management so as to ...
Senthil Senniappan   +2 more
doaj   +1 more source

Regulation of metabolism by miR-378 [PDF]

open access: yes, 2014
The present invention provides a method of regulating fatty acid metabolism in a cell by contacting the cell with a modulator of miR-378 and/or miR-378* activity or expression.
Carrer, Michele, Olson, Eric N.
core   +1 more source

How Pre‐Pregnancy Weight and Polycystic Ovary Syndrome Impact Pregnancy Outcomes: A Population‐Based Cohort Study

open access: yesHealth Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background and Aims Pre‐pregnancy overweight/obese status among women with polycystic ovary syndrome (PCOS) could increase the risk of at least one adverse pregnancy outcome (APO). This study aimed to determine how pre‐pregnancy weight and PCOS impact pregnancy outcomes. Methods For the current study, we used data collected in the Tehran Lipid
Elahe Sheklabadi   +6 more
wiley   +1 more source

Nouveautés radiologiques dans le dépistage et le diagnostic des erreurs innées du métabolisme [PDF]

open access: yes, 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   +7 more
core   +1 more source

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

open access: yesClinical 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   +4 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

open access: yesPregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld   +5 more
wiley   +1 more source

Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families

open access: yesOrphanet Journal of Rare Diseases, 2022
Background Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children, and carries a considerable risk of neurological damage and developmental delays if diagnosis and treatment are delayed. Despite rapid
Indraneel Banerjee   +7 more
doaj   +1 more source

Opening closed inward rectifier potassium channel doors

open access: yesBritish Journal of Pharmacology, Volume 183, Issue 10, Page 2197-2218, May 2026.
Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger   +3 more
wiley   +1 more source

Childhood Type II Diabetes: The Risks and Complications [PDF]

open access: yes, 2015
Type II Diabetes Mellitus is an endocrine disorder that affects people of all ages. Type II Diabetes was once considered adult-onset diabetes, as it was nearly exclusively diagnosed in adults. Over the last three decades, the number of children diagnosed
Kapke, Danielle R
core   +1 more source

Patologia molecular do receptor de sulfoniluréia (SUR1) [PDF]

open access: yes, 2000
The sulfonylurea receptor is a subunit of the ATP-sensitive potassium channel, which is expressed in the pancreatic beta cell. The central role of this receptor in glucose-induced insulin secretion was confirmed by description that mutations in this gene
Reis, André Fernandes [UNIFESP]   +1 more
core   +2 more sources

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