Results 121 to 130 of about 20,640 (292)
Prevalence of Adverse Events in Children With Congenital Hyperinsulinism Treated With Diazoxide
Journal of Clinical Endocrinology and Metabolism, 2018 Context Diazoxide, the only U.S. Food and Drug Administration-approved drug to treat hyperinsulinemic hypoglycemia, has been associated with several adverse events, which has raised concerns about the safety of this drug.
A. Herrera +6 more
semanticscholar +1 more source
Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 2, Page 319-330, February 2025.Combined exposure to maternal prepregnancy with high BMI and hypertension was associated with a higher risk of certain mental disorders than that of individual exposure alone. High BMI status modified the association between maternal hypertension and these offspring mental disorders synergistically.
Samson Nivins +4 more
wiley +1 more source
The FASEB Journal, Volume 39, Issue 2, 31 January 2025.Overview of the role and mechanism of AGDMP1 in GDM. AGDMP1 might bind to HSP60 to activate the IRS‐1/AKT/GLUT4 signaling pathway, and subsequently increase glucose uptake and insulin sensitivity in adipocytes. In addition, AGDMP1 could inhibit the HSP60‐induced production of inflammatory cytokines to reduce inflammation and macrophage accumulation in ...
Shanshan Wang +7 more
wiley +1 more source
Fainting Fanconi syndrome clarified by proxy: a case report [PDF]
, 2017 BACKGROUND: Rare diseases may elude diagnosis due to unfamiliarity of the treating physicians with the specific disorder. Yet, advances in genetics have tremendously enhanced our ability to establish specific and sometimes surprising diagnoses.
Bass, P +7 more
core +4 more sources
Insulino-resistência e aterosclerose.
Acta Médica Portuguesa, 2000 The western way of life favours the development of a state of insulin resistance, in genetically predisposed subjects. In this state, greater levels of insulin are necessary so that an answer can be obtained and, consequently, hyperinsulinism occurs ...
J S Nunes, L G Correia, J N Corrêa
doaj +1 more source
MAGEL2 (patho‐)physiology and Schaaf–Yang syndrome
Developmental Medicine &Child Neurology, Volume 67, Issue 1, Page 35-48, January 2025.Pathogenic variants in MAGEL2 cause Schaaf–Yang syndrome (SYS). MAGEL2 has diverse physiological functions, particularly in the human hypothalamus. Loss of function likely explains several SYS phenotypes. In addition it has become evident that neomorphic effects of truncated MAGEL2 proteins likely contribute to the severity of this complex ...
Tim Schubert, Christian P. Schaaf
wiley +1 more source
Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: effect of treatment [PDF]
, 2000 OBJECTIVE: The combination of persistent hyperammonemia and hypoketotic hypoglycemia in infancy presents a diagnostic challenge. Investigation of the possible causes and regulators of the ammonia and glucose disposal may ...
Duran, M. (Marinus) +4 more
core
Congenital hyperinsulinism with hyperammonaemia
BMJ Case Reports, 2010 Congenital hyperinsulinism is considered to be the most frequent cause of persistent recurrent hypoglycaemia in infants. The clinical presentation and response to pharmacological treatment may vary significantly depending on the underlying pathology. We report a case of a female infant with mild but early onset of recurrent hypoglycaemia.
Hubert Fahnenstich +2 more
openaire +4 more sources
Case Reports in Genetics, Volume 2025, Issue 1, 2025.Neonatal liver disease is a broad entity. When it presents in conjunction with other abnormalities, it raises the question of a potential underlying genetic cause. Etiologies that were once difficult to diagnose are becoming more readily identifiable with the arrival of next‐generation sequencing.
Ariel Tarrell +12 more
wiley +1 more source
Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism
The Journal of Pathology: Clinical Research, 2019 Congenital hyperinsulinism (CHI) causes dysregulated insulin secretion which can lead to life‐threatening hypoglycaemia if not effectively managed. CHI can be sub‐classified into three distinct groups: diffuse, focal and mosaic pancreatic disease. Whilst
J. Houghton +10 more
semanticscholar +1 more source