16 Result(s)
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Open AccessPhenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene
Monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY) is usually characterized by a mild clinical phenotype. The clinical course of diabetes may be, however, highly variable. The authors pr...
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Selected risk factors of fractures in children — own observation
Bone fractures may depend on Vitamin D Receptor Gene (VDR), bone mineral density, bone turnover markers. Patients and methods. 161 patients were recruited and underwent: skeletal densitometry (DXA) method and bon...
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Article
Open AccessThree-year comparison of subcutaneous insulin pump treatment with multi-daily injections on HbA1c, its variability and hospital burden of children with type 1 diabetes
Treatment with continuous subcutaneous insulin infusion (CSII) allows a large degree of treatment individualization and intensification in children with diabetes. The study’s aim was to evaluate the impact of ...
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Open AccessLess but better: cardioprotective lipid profile of patients with GCK-MODY despite lower HDL cholesterol level
Patients with diabetes caused by single-gene mutations generally exhibit an altered course of diabetes. Those with mutations of the glucokinase gene (GCK-MODY) show good metabolic control and low risk of cardiova...
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Open AccessAltered Platelets’ morphological parameters in children with type 1 diabetes – a case-control study
Platelet hyperreactivity is a factor which contributes towards increased risk of cardiovascular events in adults with type 2 diabetes (T2DM). However, little is known about platelets’ disturbances among childr...
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Open AccessDifferential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors
We aimed to identify microRNAs (miRNAs) under transcriptional control of the HNF1β transcription factor, and investigate whether its effect manifests in serum.
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Article
Blood concentration of aminothiols in children with relapse of nephrotic syndrome
The role of idiopathic nephrotic syndrome (INS) in the pathogenesis of atherosclerosis in childhood has not been clearly elucidated. However, antioxidative defense in INS is thought to be imbalanced. This stud...
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Open AccessAbnormal serum microRNA profiles in tuberous sclerosis are normalized during treatment with everolimus: possible clinical implications
Tuberous sclerosis (TSC) is a monogenic disease resulting from defects of the TSC1 or TSC2 genes, which encode the proteins forming hamartin-tuberin tumor suppressor complex, the mammalian target of rapamycin com...
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Alcohol and cigarette use among adolescents with type 1 diabetes
In this study, we compare the prevalence of alcohol and cigarette use among Polish adolescents with type 1 diabetes mellitus (T1DM) (n = 209), aged 15–18 years, with that of a large cohort of their healthy peers,...
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Article
What are the true volumes of SEGA tumors? Reliability of planimetric and popular semi-automated image segmentation methods
To evaluate the reliability of the standard planimetric methodology of volumetric analysis and three different open-source semi-automated approaches of brain tumor segmentation.
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Open AccessRetinal thickness as a marker of disease progression in longitudinal observation of patients with Wolfram syndrome
Wolfram syndrome (WFS) is a recessively inherited monogenic form of diabetes coexisting with optic atrophy and neurodegenerative disorders with no currently recognized markers of disease progression. The aim o...
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GlyCulator2: an update on a web application for calculation of glycemic variability indices
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Article
Open AccessKlotho and fibroblast growth factors 19 and 21 serum concentrations in children and adolescents with normal body weight and obesity and their associations with metabolic parameters
Fibroblast growth factor 19 (FGF19), fibroblast growth factor 21 (FGF21) and Klotho are regulators of energy homeostasis. However, in the pediatric population, the relationships between obesity, metabolic diso...
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Pain resolution and glucose control in pediatric patients with chronic pancreatitis after total pancreatectomy with islet auto-transplantation
Chronic pancreatitis (CP) and acute recurrent pancreatitis (ARP) in pediatric patients are strongly associated with genetic mutations and lead to pan-parenchymal disease refractory to medical and endoscopic t...
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Open AccessSirtuin 1 and Sirtuin 2 Plasma Concentrations in Patients with Ascending Aortic Dissection and Ascending Aortic Aneurysm
Previous studies explored multifactorial interactions and sirtuin expression in the aortic cells of laboratory rodents and humans. Human studies were limited due to the availability of biological material excl...
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Open AccessCholesin receptor signalling is active in cardiovascular system-associated adipose tissue and correlates with SGLT2i treatment in patients with diabetes
Recently deorphanized G protein-coupled receptor 146 (GPR146) was shown to respond to signal from a newly identified hormone—cholesin—and to play a role in hepatic lipid metabolism. However, the importance of ...
