Publications by authors named "Joanna Goscik"

Article Synopsis
  • Hashimoto's thyroiditis (HT) and Graves' disease (GD) are common autoimmune endocrine disorders in kids that have both environmental and genetic factors influencing their development.
  • A study examined the prevalence of specific genetic variations (SNPs) in genes related to these diseases among children, involving 56 HT patients, 124 GD patients, and 156 healthy controls.
  • The findings showed significant differences in genetic markers, particularly in the IL7R gene, suggesting that certain alleles may offer protection against developing HT and GD in children, especially with the T allele showing a protective effect in specific cases.
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Background: Coronavirus disease 2019 (COVID-19) has permanently changed the world. Despite having been a pandemic for nearly 3 years, the mid- and long-term complications of this disease, including endocrine disorders, remain unclear. Our study aimed to evaluate the lasting effects of COVID-19 on the endocrine system 6 months after initial infection.

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The aim of the experiment was to test the effect of an elevated level of glucocorticoids on the mouse hippocampal transcriptome after 12 h of treatment with corticosterone that was administered during an active phase of the circadian cycle. Additionally, we also tested the circadian changes in gene expression and the decay time of transcriptomic response to corticosterone. Gene expression was analyzed using microarrays.

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Background: Vagus nerve is one of the crucial routes in communication between the immune and central nervous systems. The impaired vagal nerve function may intensify peripheral inflammatory processes. This effect subsides along with prolonged recovery after permanent nerve injury.

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Interpretation of transcriptomic experiments is hindered by many problems including false positives/negatives inherent to big-data methods and changes in gene nomenclature. To find the most consistent effect of stress on brain transcriptome, we retrieved data from 79 studies applying animal models and 3 human studies investigating post-traumatic stress disorder (PTSD). The analyzed data were obtained either with microarrays or RNA sequencing applied to samples collected from more than 1887 laboratory animals and from 121 human subjects.

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Obesity rates among children are growing rapidly worldwide, placing massive pressure on healthcare systems. Untargeted metabolomics can expand our understanding of the pathogenesis of obesity and elucidate mechanisms related to its symptoms. However, the metabolic signatures of obesity in children have not been thoroughly investigated.

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Article Synopsis
  • Mitochondrial dysfunction is linked to type 2 diabetes, but this study investigates its role in early dysglycemia by analyzing mitochondrial function and quantity in skeletal muscle and adipose tissue during a three-month exercise intervention.
  • Researchers measured clinical metabolic parameters and conducted muscle and fat tissue biopsies before and after the exercise program to assess mitochondrial changes.
  • The findings revealed no initial differences in muscle mitochondria between healthy individuals and prediabetics, while adipose tissue showed reduced mitochondrial activity tied to impaired glucose levels; exercise improved mitochondrial quantity but had limited effects on their function.
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Objectives: The aim of this study was to examine the role of ghrelin, obestatin, and glutamate and their receptors in the pathogenesis of children functional constipation.

Methods: Children ages 4-17 were the subject of the study: 121 children with constipation (55 boys and 66 girls), 36 patients of the same age (26 boys and 10 girls) were the controls. Expression of ghrelin, obestatin, and glutamate receptors on gastric and colon specimens taken by endoscopy were assessed.

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Introduction: The pathogenesis of autoimmune thyroid diseases is complicated and not completely known. Among the causes of thyroid autoimmunity, we distinguish genetic predisposition and environmental factors. Graves' disease and Hashimoto's thyroiditis are associated with a disturbance of immune tolerance of thyroid antigen molecules.

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Article Synopsis
  • Autoimmune thyroid diseases (AITDs), like Graves' disease and Hashimoto's thyroiditis, along with type 1 diabetes (T1D), are common in children and linked to genetic factors.
  • This study examined specific genetic variations (SNPs) in Polish children with AITDs and T1D, focusing on IL2RA, IFIH1, and CTLA-4 genes.
  • Findings showed significant genetic differences in T1D patients compared to healthy controls, suggesting that certain alleles and genotypes are associated with an increased risk of T1D, while no differences were found in AITD patients.
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Objectives: Dyssynergic defecation is a common disorder in children with functional constipation (FC) because of relaxation disorders of the sphincter apparatus and intra-rectal pressure during defecation. The aim of the study was to determine frequency and type of dyssynergic defecation and to assess pressure in the anal canal poles during simulated evacuation and function of puborectalis muscle in defecation in children with FC.

Methods: Three-dimensional (3D) high-resolution anorectal manometries (3D HRAM) were performed in 131 children with FC.

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Purpose: Autoimmune diseases are a group of complex diseases localized in multiple organ systems, with a wide spectrum of symptoms and still unclear causes. The aim of the present study was to analyse a possible association of three autoimmune disabilities - Multiple sclerosis (MS), LADA diabetes and Graves' disease (GD) with single nucleotide polymorphism (SNP; rs1990760) in the IF IH1 gene (also known as a melanoma differentiation-associated protein 5 - MDA5) within the Polish population. An additional goal was also to look for a correlation between this polymorphism and different clinical patient-related factors.

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Introduction: Preeclampsia has the highest rate of obstetric morbidity and mortality.

Methods: We recruited 21 women with preeclampsia and 27 women with uncomplicated pregnancies. We used a quantitative protein macroarray that allowed for analysis of 40 proteins.

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Introduction: Environmental and genetic factors play an important role in the development of type 2 diabetes (T2D). One of the most important lifestyle factors is a low level of physical activity (PA), but no studies have explicitly compared the amount of variation in diabetes prevalence explained by variation in PA compared with the amount explained by genetic variation.

Objectives: We examined associations between PA and patients stratified by the levels of genetic susceptibility to T2D and the prevalence of the disease.

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Background And Objectives: Multiple sclerosis (MS) is a chronic inflammatory, autoimmune disease with a still unknown aetiology. The main initial mechanism of demyelination and injury to the central nervous system (CNS) appears to be inflammation. Neurotoxicity induced by homocysteine (Hcy) may be a factor affecting this process.

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The major risk factors of T2DM (type 2 diabetes mellitus) development are still under investigation. We evaluate the possible risk factors associated with type 2 diabetes (T2DM) in adult subjects during a five-year prospective cohort study. We recruited 1160 subjects who underwent oral glucose tolerance test, anthropometric measurements, and body composition and body fat distribution analysis at a baseline visit and again at follow-up after approximately five years.

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Purpose: The interactions between lifestyle and genetic factors play an important role in obesity development. Mutations in melanocortin-4-receptor (MC4R) gene are one of the most common cause of monogenic obesity, however, the functional effects of polymorphic variants near MC4R gene in general populations remain uncertain. The aim of our study was to analyze whether the common single nucleotide polymorphisms (SNPs) of MC4R gene influence the food preferences, physical activity, body fat content and distribution, as well as fasting and postprandial energy expenditure and substrates utilization.

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Background: Susceptibility to Graves' disease (GD) is determined by various genetic factors; the gene encoding protein tyrosine phosphatase (PTPN22) may be one of those associated with higher risk of GD. The aim was to estimate the association of the PTPN22 gene polymorphism rs2476601:c.C>T (c.

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Unlabelled: The energy balance regulation may differ in lean and obese people. The purposes of our study were to evaluate the hormonal response to meals with varying macronutrient content, and the differences depending on body weight.

Methods: The crossover study included 46 men, 21⁻58 years old, normal-weight and overweight/obese.

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Background: Hormones, which influence satiety and hunger, play a significant role in body energy balance regulation. Ghrelin is a peptide that plays an important role in short-term appetite regulation, whereas leptin is a factor that controls long-term energy balance and is considered as a satiety hormone. The aim of this study was to evaluate the leptin/ghrelin ratio in a fasting state and after the intake of meals with varying macronutrient contents and to assess the possible differences between normal body weight and overweight/obese men.

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Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, the interferon-induced helicase domain 1 (IFIH1) gene, the thyroid-stimulating hormone receptor (TSHR) gene polymorphisms on autoimmune thyroid diseases (AITDs) in adults has been established unequivocally, but there is still lack of research articles including group of children. Objective and hypotheses: To estimate the association of polymorphisms of PTPN22, IFIH1 and TSH-R genes with the pre-disposition to Graves' disease (GD) and Hashimoto's thyroiditis (HT) in children.

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Obesity is a result of positive energy balance. The aim of this study was to measure (in crossover trials) the energy expenditure and oxidation of glucose and lipids, both at the fasting state and after an intake of meals with a varying macronutrient content, in normal-weight and overweight/obese people. In the study, 46 healthy adult males (23 with normal body weight and 23 overweight/obese), aged 21⁻58, were examined.

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Article Synopsis
  • The study aimed to analyze the maternal plasma metabolome in cases of spontaneous preterm birth, comparing it to cases of threatened preterm labor and term delivery.
  • A total of 168 metabolites were identified as significantly different between the groups, with 51 metabolites categorized into amino acids, fatty acids, lipids, hormones, and bile acids.
  • The findings suggest that maternal plasma metabolites can distinguish between preterm and term deliveries, indicating their potential as biomarkers for identifying high-risk pregnancies and guiding future research.
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Article Synopsis
  • The study explored the ability of certain biomarkers measured in the first trimester of pregnancy to predict macrosomia, which is when a baby is born significantly larger than average.
  • Researchers focused on 26 women who had macrosomic babies and 34 who had normal weight infants, analyzing levels of specific adipokines and placental markers in their blood.
  • Findings revealed that mothers of macrosomic babies had higher levels of irisin and placental growth factor, but lower levels of fetuin-A, with irisin being identified as a significant predictor of birth weight.
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Article Synopsis
  • This study focused on the levels of 60 angiogenic factors in the plasma of pregnant women whose fetuses had Down syndrome (trisomy 21), compared to a control group of women with healthy pregnancies.
  • Researchers used a protein macroarray to measure these factors in blood samples from 20 women with Down syndrome pregnancies and 28 healthy controls.
  • The results showed significant higher levels of five specific factors associated with inflammation and angiogenesis in the Down syndrome group, suggesting these factors might be involved in the development of the condition.
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