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Article
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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Article
Open AccessInfluence of genomic variation in FTO at 16q12.2, MC4R at 18q22 and NRXN3 at 14q31 genes on breast cancer risk
Breast cancer is a major cause of cancer-related deaths in women. It is known that obesity is one of the risk factors of breast cancer. The subject of our interest was genes: FTO, MC4R and NRXN3–associated with o...
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Article
Vitamin D receptor gene variability as a factor influencing bone mineral density in pediatric patients
To determine the relationship between the polymorphism of vitamin D receptor gene and the bone mineral density in children. The study group consisted of 395 children aged 6–18 years. All patients underwent gen...
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Article
Gene expression and pathologic response to neoadjuvant chemotherapy in breast cancer
Pathologic complete response after neoadjuvant systemic treatment appears to be a valid surrogate for better overall survival in breast cancer patients. Currently, together with standard clinicopathologic asse...
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Article
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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Article
Open AccessGenetic Polymorphisms and the Risk of Myocardial Infarction in Patients Under 45 Years of Age
This study investigates the potential role of 17 chosen polymorphisms in 15 candidate genes and the risk of myocardial infarction in patients under 45 years of age. The study consists of 271 patients with myoc...
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Open AccessAssociation of microRNAs and pathologic response to preoperative chemotherapy in triple negative breast cancer: preliminary report
Triple negative breast cancer (TNBC) has caught the attention of oncologists worldwide because of poor prognosis and paucity of targeted therapies. Gene pathways have been widely studied, but less is known abo...
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Article
Open AccessExhaled IL-8 in Systemic Lupus Erythematosus with and without Pulmonary Fibrosis
The purpose of this study is to evaluate the relationship between the concentration of interleukin-8 (IL-8) in exhaled breath condensate (EBC) and bronchoalveolar lavage fluid (BALF) with the disease activity ...
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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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Article
Open AccessAvailability and outcomes of radiotherapy in Central Poland during the 2005-2012 period - an observational study
Using a cross-database integrative approach, we performed an epidemiological analysis in a representative region of central Poland to evaluate the availability of radiotherapy (RTx) and overall survival of adu...
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Article
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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Article
Open AccessBiological monitoring and the influence of genetic polymorphism of As3MT and GSTs on distribution of urinary arsenic species in occupational exposure workers
To examine the differences in urinary arsenic metabolism patterns in men affected by occupational exposure, we performed a study on 149 participants—workers of a copper mill and 52 healthy controls without oc...
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Article
The NR3C1 Glucocorticoid Receptor Gene Polymorphisms May Modulate the TGF-beta mRNA Expression in Asthma Patients
Glucocorticosteroids (GCs) are basic drugs in therapy of a number of diseases, including chronic diseases of the respiratory system. They are the most important anti-inflammatory drugs in the treatment of asth...
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Article
Open AccessLipid peroxidation and glutathione peroxidase activity relationship in breast cancer depends on functional polymorphism of GPX1
Since targeting oxidative stress markers has been recently recognized as a novel therapeutic target in cancer, it is interesting to investigate whether genetic susceptibility may modify oxidative stress respon...
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Article
The Role of CXC Chemokines in Pulmonary Fibrosis of Systemic Lupus Erythematosus Patients
The inflammatory process in systemic lupus erythematosus (SLE) affects many organs including the lungs. CXC chemokines are suggested to play an important role in the pathogenesis of SLE and pulmonary fibrosis....
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Article
Open AccessCirculating miR-29a and miR-150 correlate with delivered dose during thoracic radiation therapy for non-small cell lung cancer
Risk of normal tissue toxicity limits the amount of thoracic radiation therapy (RT) that can be routinely prescribed to treat non-small cell lung cancer (NSCLC). An early biomarker of response to thoracic RT m...
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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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Article
Everolimus treatment among patients with tuberous sclerosis affects serum lipid profile
The purpose of the study was to evaluate lipid homeostasis before and after treatment of everolimus, the mammalian target of the rapamycin (mTOR) inhibitor, among patients with tuberous sclerosis complex (TSC).