Publications by authors named "Gorenjak M"

: Metered-dose inhalers (MDIs) and dry powder inhalers (DPIs) are common inhaled corticosteroid (ICS) inhaler devices. The difference in formulation and administration technique of these devices may influence oral cavity microbiota composition. We aimed to compare the saliva microbiome in children with moderate-to-severe asthma using ICS via MDIs versus DPIs.

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Background: Underlying immunological mechanisms in children with moderate-to-severe asthma are complex and unclear. We aimed to investigate the association between blood inflammatory parameters and asthma burden in children with moderate-to-severe asthma.

Methods: Blood inflammatory parameters (eosinophil and neutrophil counts and inflammatory mediators using multiplex immunoassay technology) were measured in children (6-17 years) with moderate-to-severe asthma from the SysPharmPediA cohort across four European countries.

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Curated online interaction databases and gene ontology tools have streamlined the analysis of highly complex gene/protein networks. However, understanding of disease pathogenesis has gradually shifted from a protein-based core to complex interactive networks where non-coding RNA (ncRNA) is thought to play an essential role. As current gene ontology is based predominantly on protein-level information, there is a growing need to analyze networks with ncRNA.

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Breast cancer (BC) comprises multiple subtypes with distinct molecular features, which differ in their interplay with host immunity, prognosis, and treatment. Non-invasive blood analyses can provide valuable insights into systemic immunity during cancer. The aim of this study was to analyze the expression of transcriptional isoforms in peripheral blood mononuclear cells (PBMCs) from BC patients and healthy women to identify potential BC immune biomarkers.

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This study aimed to determine the prevalence of adverse events in mechanically ventilated adults with COVID-19 who have undergone prone positioning. A total of 100 patients were included retrospectively; 60% were males, the mean age was 64.8 ± 9.

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  • * The study utilized single-cell RNA sequencing on PBMC samples from CD patients to identify gene expression signals that may be hidden due to therapy or inflammation, employing rigorous methods for gene selection and validation.
  • * Key findings revealed significant candidate genes in CD4 T cells and double-negative T cells that were associated with responses to anti-TNFα therapy, offering insights that could improve personalized treatment strategies for CD patients.
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  • Early identification of poorly controlled asthma in children is crucial for improving treatment methods, and analyzing exhaled volatile organic compounds (VOCs) shows promise for this task.
  • A study evaluated the effectiveness of gas chromatography-mass spectrometry to distinguish between controlled and uncontrolled pediatric asthma, using data from multiple research phases.
  • Key findings revealed that specific VOCs, such as acetophenone and ethylbenzene, could differentiate asthma control levels, achieving strong accuracy in predicting outcomes based on the collected data from 196 children.
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Multiple sclerosis is a common immune-mediated inflammatory and demyelinating disease. Lower cholecalciferol levels are an established environmental risk factor in multiple sclerosis. Although cholecalciferol supplementation in multiple sclerosis is widely accepted, optimal serum levels are still debated.

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  • * Researchers analyzed blood samples from 121 children with moderate-to-severe asthma to find DNAm markers linked to BDR and FeNO, using regression models to ensure accuracy while controlling for variables like age and sex.
  • * They identified specific DNA markers and differential regions related to FeNO and BDR, with findings indicating associations with allergic reactions and inflammation, potentially opening avenues for better understanding and management of asthma in pediatric patients.
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  • Crohn's disease (CD) and other inflammatory diseases show variations in response to anti-TNF biologic therapy, with about one-third of patients not responding to treatment.
  • This study aimed to identify genetic markers linked to anti-TNF therapy response specifically in Slovenian CD patients treated with adalimumab (ADA).
  • A total of 102 CD patients were analyzed, leading to the discovery of significant associations between specific genetic variants (including SNP rs755622 and rs2275913) and treatment response, highlighting potential pharmacogenetic markers for future personalized therapy.
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  • Uncontrolled asthma in children can significantly affect their quality of life, and the study explores the link between the gastrointestinal microbiome and asthma control.
  • Researchers analyzed fecal samples from 143 children with asthma using various methods, including machine learning, to compare the microbiomes of those with controlled versus uncontrolled asthma.
  • Findings revealed specific bacteria, like Haemophilus and Veillonella, that could distinguish between the two groups, suggesting the microbiome could serve as a potential biomarker for improving asthma treatment in children.
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  • Uncontrolled pediatric asthma significantly affects children and their caregivers, highlighting the need for deeper understanding of its determinants through the SysPharmPediA study.
  • The study enrolled 145 children (ages 6-17) with moderate to severe asthma from multiple countries and analyzed factors like treatment regimens, medication adherence, and lung function to assess uncontrolled vs. controlled asthma.
  • Results showed children on higher treatment steps had more uncontrolled asthma, and while they had a greater lung function response to salbutamol, medication adherence and inhaler technique did not differ significantly between the two groups—suggesting other factors might contribute to uncontrolled asthma risk.
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Background: Acute myeloid leukemia (AML) and chronic myeloid leukemia (CML) represent a group of hematological malignancies characterized by the pathogenic clonal expansion of leukemic myeloid cells. The diagnosis and clinical outcome of AML and CML are complicated by genetic heterogeneity of disease; therefore, the identification of novel molecular biomarkers and pharmacological targets is of paramount importance.

Methods: RNA-seq-based transcriptome data from a total of five studies were extracted from NCBI GEO repository and subjected to an in-depth bioinformatics analysis to identify differentially expressed genes (DEGs) between AML and CML.

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  • Crohn's disease arises from an imbalanced inflammatory response to gut microbes, often leading to a poor response to anti-TNF treatments like adalimumab.
  • The study aimed to understand the variations in treatment response by analyzing RNA from colon tissue and DNA from blood of Slovenian patients who had not previously received adalimumab.
  • Researchers pinpointed nine genes with specific transcripts linked to how patients respond to adalimumab, identifying new genetic factors that may influence the effectiveness of treatment for Crohn's disease.
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  • Anti-TNF therapy has greatly improved rheumatoid arthritis treatment, but some patients either do not respond to it or lose their response over time, with the reasons for this remaining unclear.
  • The study aims to investigate the biological processes that contribute to non-response by analyzing gene ontologies and biomarkers from previous research in a systematic way.
  • Findings from the study identified significant involvement of proteasome-mediated protein catabolic processes and plasma lipoproteins in the response to anti-TNF therapy, suggesting avenues for further research.
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Autism spectrum disorders (ASD) represent a phenotypically heterogeneous group of patients that strongly intertwine with other neurodevelopmental disorders (NDDs), with genetics playing a significant role in their etiology. Whole exome sequencing (WES) has become predominant in molecular diagnostics for ASD by considerably increasing the diagnostic yield. However, the proportion of undiagnosed patients still remains high due to complex clinical presentation, reduced penetrance, and lack of segregation analysis or clinical information.

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  • Asthma exacerbations are a major public health issue linked to increased healthcare costs, productivity losses, and quality of life impacts; this study examines the genetic factors contributing to these exacerbations across different ancestries.
  • A large-scale meta-GWAS involving nearly 12,000 participants from diverse backgrounds identified 126 potential genetic variants associated with asthma exacerbations, with two variants successfully replicated in further analyses.
  • The identified variants are involved in regulating gene expression and DNA methylation, highlighting new potential genetic mechanisms that might influence asthma severity and management.
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Objectives: Acute kidney injury (AKI) is associated with higher perioperative mortality and morbidity. Oxidative stress has been proposed as a cause of postoperative AKI. Ascorbic acid (AA) supplementation was suggested as a novel and promising antioxidant.

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The need for temperature modulation (mostly cooling) in critically ill patients is based on the expected benefits associated with decreased metabolic demands. However, evidence-based guidelines for temperature management in a majority of critically ill patients with fever are still lacking. The aim of our retrospective single-site observational study was to determine the differences in ICU treatment between patients in whom their temperature remained within the target temperature range for ≥25% of time (inTT group) and patients in whom their temperature was outside the target temperature range for <24% of time (outTT group).

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Triple-negative breast cancer (TNBC) is a breast cancer (BC) subtype that accounts for approximately 15-20% of all BC cases. Cancer cell lines (CLs) provide an efficient way to model the disease. We have recently isolated a patient-derived triple-negative BC CL MFUM-BrTNBC-1 and performed a detailed morphological and molecular characterisation and a comprehensive comparison with three commercial BC CLs (MCF-7, MDA-MB-231, MDA-MB-453).

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Background: Women with uterine adenomyosis seeking assisted reproduction have been associated with compromised endometrial receptivity to embryo implantation. To understand the mechanisms involved in this process, we aimed to compare endometrial transcriptome profiles during the window of implantation (WOI) between women with and without adenomyosis.

Methods: We obtained endometrial biopsies LH-timed to the WOI from women with sonographic features of adenomyosis (n=10) and controls (n=10).

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Background: Inhaled corticosteroid (ICS) response among patients with asthma is influenced by genetics, but biologically actionable insights based on associations have not been found. Various glucocorticoid response omics data sets are available to interrogate their biological effects.

Objective: We sought to identify functionally relevant ICS-response genetic associations by integrating complementary multiomics data sets.

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Familial Progressive Hyper- and Hypopigmentation is a pigmentary disorder characterized by a mix of hypo- and hyperpigmented lesions, café-au-lait spots and hypopigmented ash-leaf macules. The disorder was previously linked to KITLG and various mutations have been reported to segregate in different families. Furthermore, association between KITLG mutations and malignancies was also suggested.

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Inhaled corticosteroids (ICS) are the most common asthma controller medication. An important contribution of genetic factors in ICS response has been evidenced. Here, we aimed to identify novel genetic markers involved in ICS response in asthma.

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