BIBLIOGRAPHY

2025

  • Jendraszak, M., & Andrusiewicz, M. (2025). Uncovering hidden connections: the role of the male reproductive system microbiome and gut microorganisms in implantation: a critical review. Critical reviews in clinical laboratory sciences, 1–31. 10.1080/10408363.2025.2562894

Keywords: Male reproductive system; Gut microbiome; Implantation; Inflammation; Probiotics; Semen; Microbiome; Infertility; Dysbiosis

Summary

Recent advancements in sequencing technologies have uncovered complex microbial communities in various niches of the human body, including the reproductive system. Thus, the review explores the importance of the male genital and gut microbiome in maintaining reproductive health, embryo implantation, and pregnancy outcomes by searching through MEDLINE, Web of Science, and Scopus, and examining the role of microbial communities. The importance of characterizing genital and gut microbiomes was emphasized in order to inform the development of novel diagnostic tools and therapeutic strategies aimed at improving reproductive health and pregnancy outcomes because existing research on the female genital microbiome and its involvement in the uterus are already known. While the female genital microbiome has been extensively studied and its role in implantation and embryo development well established, research on the male genital microbiome remains limited, and its influence is not yet fully understood; thus, the focus has been more geared towards existing research on the female genital and the discovery of other contributing factors in the body. Overall, it has been concluded that it is essential to assess the health of the biome of both male and female partners, as many conditions that negatively impact both parties can also affect the long-term health of the baby.

  • Wojciechowska, O., Jourdes, M., Andrusiewicz, M., Pokrzywa, M., Karaźniewicz-Łada, M., Jodynis-Liebert, J., et al. Oenological tannins mitigate rotenone-induced mitochondrial impairments and oxidative stress, with concomitant detection of urolithin A in the brain. Biochemistry and Biophysics Reports. 2025;44:102263. 10.1016/j.bbrep.2025.102263

Keywords: Ellagitannins; Oenological Tannins; Mitochondria; Mitochondrial dysfunction;  Oxidative Stress; Rotenone; Urolithin A; Neuroprotection; Brain Health

Summary

Background/Objectives. Mitochondrial dysfunction and oxidative stress play a significant role in neurotoxicity induced by environmental toxins like rotenone. Oenological tannins (OTs) and their metabolite, urolithin A (UA), have shown potential neuroprotective properties, but their role in counteracting toxin-induced mitochondrial impairments remains unclear. Aim. To investigate the effects of OTs on rotenone-induced mitochondrial dysfunction and oxidative stress in the brain. And to assess whether OTS treatment was associated with detectable levels of UA in the brain. Methods. Rats were treated with rotenone (ROT) to induce mitochondrial dysfunction and oxidative stress. Some groups also received OTs. The mitochondrial membrane potential (MMP), mitochondrial complex I (MCI) and aldehyde dehydrogenase 2 (ALDH2) activity, protein carbonyl (PC) levels, and dopamine (DA) levels were measured. The presence and levels of UA in the brain were also determined. Results. OTs treatment restored MMP, increased MCI and ALDH2 activity, and decreased PC content in ROT-induced rats. UA was also detected in the brains of OTs-treated animals. The results demonstrated an improved olfactory discrimination in ODT after OTs treatment. There was no improvement in DA levels after OTs+ROT treatment. Conclusions. OTs administration attenuates mitochondria-related neurotoxicity induced by rotenone. The presence of UA in the brain suggests a potential role for this metabolite in the observed neuroprotective effects. Further research is needed to elucidate the mechanisms involved

  • Janusz, P., Tokłowicz, M., Andrusiewicz, M., Kotwicki, T., & Kotwicka, M. (2025). LBX1, ESR1, and ESR2 genes DNA methylation level in idiopathic scoliosis. Scientific reports, 15(1), 32089, 10.1038/s41598-025-15804-0

Keywords: Idiopathic scoliosis (IS); DNA methylation; LBX1 gene; ESR1 gene; ESR2 gene; Epigenetics; Pyrosequencing; Gene expression; Spinal deformity; Genetic factors

Summary

Background/Objectives. Idiopathic scoliosis (IS) is a complex spinal deformity that is influenced by both genetic and environmental factors. Epigenetic modifications, particularly DNA methylation, may contribute to its development and progression. This study aimed to evaluate the association between methylation levels of the LBX1, ESR1, and ESR2 genes in blood samples and susceptibility to, as well as the severity of, IS. Aim. The study aimed to evaluate the association between LBX1, ESR1, and ESR2 gene methylation levels and susceptibility to, as well as the severity of, IS. Methods and Patients. A study group of 63 IS patients (56 female, 7 male), divided into subgroups based on Cobb angle (≤75° and >75°), and a control group of 30 individuals were analyzed. DNA methylation in selected regions of LBX1, ESR1, and ESR2 was assessed using pyrosequencing. Results. The LBX1 forward strand promoter region showed significantly lower methylation in IS patients compared to controls (p = 0.0013), and ESR1 T-DMR2 region methylation was significantly higher in IS patients compared to controls (p = 0.0003). No significant differences were observed in the mean methylation level of ESR2 exon 0 N, and no association was found between methylation levels and the severity of IS based on Cobb angle. Conclusions. This study identifies significant differences in LBX1 and ESR1 gene methylation levels between IS patients and controls, suggesting a potential role in IS susceptibility. However, no association was found between IS severity and these gene methylation levels, contributing to the understanding of epigenetic mechanisms in IS etiology

  • Kowalska, W.; Tuczyńska, M.; Kwiatkowski, J.; Komisarek, O.; Mojs, E.; Andrusiewicz, M.; Szczapa, T.; Samborski, W.; Sikorska, D.; Baum, E.; et al. Feeding Challenges in Early Infancy: The Role of Reflexes, Muscle Tone, and Developmental Milestones. PeerJ 2025, 13, e19777, 10.7717/peerj.19777.

Keywords: Infants' development; Oral musculoskeletal system; Feeding problems; Oral reflexes; Infant motor development; AIMS scale; SOWKUT questionnaire

Summary

Background/Objectives. Problems with feeding are widespread in pre-term infants, but they also occur in full-term infants. Feeding skill is the first coordinated function a child acquires, providing them with nutrients and sensory stimulation needed for proper development. The aim of the retrospective observational case-control study was to observe factors that may influence feeding problems in infants aged 0-3 months. Aim. The study aimed to observe factors that may influence feeding problems in infants aged 0-3 months. Methods and Patients. The study involved 60 infants, comprising 30 in the study group (with feeding problems) and 30 in the control group. Infants' reflexes were checked, muscle tone was palpated, general movements were assessed using Prechtl's method, and the Sensitivity Assessment of the Stomatognathic Complex (SOWKUT) and Albert Infant Motor Scale (AIMS) were evaluated. Perinatal information, including umbilical cord arterial pH, was obtained through interviews. Results. The study involved 60 infants born between 24 and 41 weeks' gestational age (median and standard deviation: 35 ± 4.81 weeks). At the time of the study, their postconceptual age was 44 ± 7 weeks. The results showed that infants with problems regarding eating performance have their oral reflexes more often impaired, and their muscles more often show increased symmetrical tension, especially the frontal, orbicularis oris, and masseter muscles. The influence of delayed motor development, sensory hypersensitivity, and early gestational age on the occurrence of feeding problems was observed. No correlation was observed between the umbilical cord arterial pH values and the feeding issues. Conclusions. Feeding problems are multifactorial, which implies that infants should be provided with quick intervention and necessary therapy. It will enable the babies to develop correctly and reduce the risk of future health issues

  • Górecki, M., Żbikowska, A., Tokłowicz, M., Sajdak, S., Englert-Golon, M., Andrusiewicz, M. Hsa-miR-21-5p and Hsa-miR-145-5p Expression: From Normal Tissue to Malignant Changes-Context-Dependent Correlation with Estrogen- and Hypoxia-Vascularization-Related Pathways Genes: A Pilot Study. Int J Mol Sci. 2025 May 7;26(9):4461. 10.3390/ijms26094461.

Keywords: ovarian cancer; microRNA; hsa-miR-21-5p; hsa-miR-145-5p; epigenetic biomarkers; estrogen-pathway-related genes; hypoxia-vascularization-dependent pathways

Summary

Background/Objectives. Ovarian cancer (OC) is a severe gynecological malignancy with a high mortality rate among women worldwide. It is often diagnosed at advanced stages due to the lack of effective screening methods. Aim. To investigate the expression patterns of microRNAs (miRNAs) hsa-miR-21-5p and hsa-miR-145-5p as potential OC prognostic and diagnostic biomarkers and their correlation with estrogen-dependent (ESR1 & 2, PELP1, and c-SRC) and hypoxia-neovascularization-induced (HIF1A, EPAS1, and VEGFA) pathway genes. Methods. Tissue samples obtained from twenty patients with confirmed ovarian cancer and twenty controls were analyzed using quantitative polymerase chain reaction (qPCR) to examine miRNA and mRNA levels. Results. The qPCR analysis revealed significantly higher hsa-miR-21-5p and lower hsa-miR-145-5p expression in OC tissues than in controls. Moreover, a significant trend was observed in the expression levels of hsa-miR-21-5p and hsa-miR-145-5p across normal, non-cancerous tissues and malignant ovarian tissues. The hsa-miR-21-5p showed better diagnostic potential than hsa-miR-145-5p. We also observed inconsistent correlations between hsa-miR-21-5p and hsa-mir-145-5p, as well as estrogen-related and hypoxia-neovascularization-dependent genes, in ovarian cancer across all groups. Conclusions. This suggests that the relationship between these miRNAs and the selected genes is context-specific. Our findings suggest that the expression levels of hsa-miR-21-5p and hsa-miR-145-5p may serve as prognostic or diagnostic markers for ovarian cancer patients.

  • Derwich-Rudowicz, A., Żbikowska, A., Ruchała, M., Andrusiewicz, M., Moskal, J., Sawicka-Gutaj, N. MicroRNA Is Downregulated in Invasive Non-Functioning Pituitary Adenomas. Int J Mol Sci. 2025 May 6;26(9):4408. 10.3390/ijms26094408.

Keywords: miRNA; pituitary tumor; invasive pituitary adenoma; prolactinoma

Summary

Background/Objectives. The study aimed to analyze the expression of hsa-miR-16-5p, hsa-miR-143-3p, hsa-miR-423-5p, hsa-miR-137-3p, hsa-miR-489-5p, hsa-miR-520-3p, hsa-miR-486-5p, and hsa-miR-200a-3p in the serum of patients with invasive non-functioning pituitary adenomas (NF-PAs) and prolactinomas, as potential candidates for non-invasive biomarkers. Aim: The study aimed to analyze the expression of hsa-miR-16-5p, hsa-miR-143-3p, hsa-miR-423-5p, hsa-miR-137-3p, hsa-miR-489-5p, hsa-miR-520-3p, hsa-miR-486-5p, and hsa-miR-200a-3p in the serum of patients with invasive non-functioning pituitary adenomas (NF-PAs) and prolactinomas, as potential candidates for non-invasive biomarkers. Methods: The study included 62 patients with NFPAs and 18 with macroprolactinoma who qualified for transsphenoidal surgical resection. MicroRNAs were isolated from serum samples. The expression levels of hsa-miR-16-5p, hsa-miR-143-3p, hsa-miR-423-5p, hsa-miR-137-3p, hsa-miR-489-5p, hsa-miR-520-3p, hsa-miR-486-5p, and hsa-miR-200a-3p were determined using TaqMan MicroRNA assays. Results: The total concentration of microRNA was significantly lower in NFPAs than in the CG (p = 0.0419). ROC curve analysis showed that the cutoff point of miRNA lower than 10.73 predicted the PA (sensitivity = 70.0%; specificity = 57.7%; AUC = 0.629; p = 0.052). No correlation between selected miRNAs and tumor type was found: hsa-miR-143-3p (p = 0.4610), hsa-miR-16-5p (p = 0.8767), and hsa-miR-423-5p (p = 0.1459). miRNA expression also did not correlate with invasiveness (cavernous or sphenoid sinus invasion, optic chiasm compression). Conclusions: Although the total expression of microRNA was significantly lower in NFPAs, hsa-miR-16-5p, hsa-miR-143-3p, and hsa-miR-423-5p are not useful as non-invasive biomarkers in patients with invasive non-functioning pituitary adenomas and prolactinomas.

  • Nowogrodzka, A.; Andrusiewicz, M.; Mojs, E. Psychological Determinants of Conflict with the Law and Susceptibility to Rehabilitation in Relation to the Presence of Symptoms of Attention Deficit Hyperactivity Disorder. Brain Sci. 2025, 15, 141. 10.3390/brainsci15020141

Keywords: attention deficit hyperactivity disorder (ADHD); criminal behavior; trauma; mental health; personality

Summary

Background/Objectives. Many prison-sentenced individuals exhibit symptoms of mental dysfunctions, including attention deficit hyperactivity disorder (ADHD). The presence of co-occurring mental disorders further complicates their rehabilitation and social reintegration efforts. Aim. This research aimed to clarify the relationships among hyperactivity, criminal behavior, and psychological functioning, in order to inform preventive and therapeutic strategies. Methods. This study investigated the complex interplay among attention deficit hyperactivity disorder (ADHD) symptoms, criminal behavior, and various psychological factors in a sample of 391 male inmates from low-security Polish prisons and a control group of non-offending men. Principal component analysis (PCA) and Spearman's rank correlation were used to analyze the relationships among ADHD severity, type of crime (no crime, property crime, crime involving aggression), family functioning, childhood trauma, early maladaptive schemas, and mental health disorders. Results. The results revealed that while traumatic experiences were present across all groups, stronger family cohesion and support were associated with the absence of ADHD symptoms and criminal behavior. As ADHD severity and criminal behavior escalated, particularly in cases involving aggression, family support diminished, and maladaptive schemas, including “disconnection and rejection” and “excessive vigilance and inhibition", became more prominent, alongside increased correlations with mental health issues (anxiety and depression). Conclusions. The findings underscore the crucial role of family environment and early intervention in mitigating the risks associated with ADHD and criminal behavior, highlighting the need for comprehensive interventions targeting maladaptive schemas and providing support for both internalizing and externalizing symptoms. Limitations include the retrospective nature of data collection and the exclusive focus on male inmates in low-security facilities.

  • Będziechowska-Czyżewska, M.; Malak, R.; Romanowski, M.; Andrusiewicz, M.; Samborski, W.; Baum, E. Postural Differences in Speaking Versus Non-Speaking Children with Autism Spectrum Disorder. Children 2025, 12, 145. 10.3390/children12020145

Keywords: autism spectrum disorder (ASD); body posture; communication disorders; range of motion; popliteal angle test; spinal curvatures; Adams test; Bunnell scoliometer; goniometer; inclinometer.

Summary

Background/Objectives. Autism spectrum disorder (ASD) is a heterogeneous condition with diverse symptoms influenced by factors like gender, severity, and the involvement of family and therapists. While many risk factors that contribute to ASD development are known, the exact etiology remains unclear. The relationship between speech ability and postural/gait patterns in ASD has not been extensively studied. Aim. This study aimed to investigate whether the ability to speak can influence body posture and gait patterns. Methods. The study involved 28 boys aged 6–17. The postural assessment used the Adams test, Bunnell scoliometer, goniometer, and inclinometer to measure trunk rotation, joint range of motion, and spinal curvature. Trunk muscle strength was assessed via a flexion test measuring position maintenance time. This study compared body posture parameters in speaking and non-speaking children with Autism Spectrum Disorders. Moreover, the parameters were compared to the general norms. Results. The study observed a tendency for speaking children to deviate more from normative body posture. They presented with shoulder protraction more often, an increased lumbar lordosis angle, and an anterior pelvic tilt. Additionally, non-speaking children were more prone to toe-walking. Both groups presented a decreased angle of dorsal flexion in the ankle joint. Conclusions. This study suggests that speaking children with ASD exhibit greater anterior-posterior postural deviations (increased lumbar lordosis, shoulder protraction, anterior pelvic tilt) than non-speaking children. ASD did not affect scoliosis or trunk rotation. Non-speaking children showed a higher incidence of toe-walking. However, the small sample size limits the generalizability of these findings.

  • Kulinska, K.I.; Wierzbicka, M.; Dera-Szymanowska, A.; Szymanowski, K.; Andrusiewicz, M.; Wołuń-Cholewa, M. Potential Modulatory Role of Phoenixin-14 in Epithelial–Mesenchymal Transition of Endometriotic 12Z Cells. Biomedicines 2025, 13, 158, doi: 10.3390/biomedicines13010158

Keywords: endometriosis; 12Z human ectopic epithelial cell line; phoenixin-14 (PNX-14); epithelial cadherin (E-cadherin/CDH1); thrombospondin 2 (THBS2)

Summary

Background/Objectives. Endometriosis is a painful chronic condition in which the endometrium grows outside the uterus. The epithelial–mesenchymal transition (EMT) is crucial to the progression of endometriosis, where cells lose their epithelial traits and acquire invasiveness. Aim. This study investigates the effects of phoenixin-14 (PNX-14), a neuropeptide found at reduced levels in endometriosis patients, on the expression of two molecular EMT markers, CDH1 (E-cadherin) and THBS2 (thrombospondin 2), as well as cell viability in the endometriosis-derived 12Z cell line. Methods. Cells were treated with physiological (0.2 nM) and endometriosis-relevant (0.05 nM) concentrations of PNX-14. Gene expression was analyzed using RT-qPCR, while protein localization was assessed by immunocytochemistry. Cell viability was measured using an XTT assay. Results. THBS2 gene expression was significantly decreased, and CDH1 remained unchanged in cells stimulated by 0.05 nM PNX-14. Immunolocalization indicates a weaker THBS2 and CDH1 protein immunosignal reaction for 0.05 nM PNX-14. PNX-14 treatment also exhibited a biphasic effect on cell viability. Lower concentration initially decreased viability at 48 h, but then significantly increased it at 72 h. This increase coincided with the decrease in THBS2 expression, suggesting a potential link between PNX-14, THBS2, and cell viability. Conclusions. A negative correlation between cell viability and the expression of both EMT markers further underscores their potential role in the survival and adaptability of ectopic epithelial cells. Our findings suggest a complex interplay between PNX-14, EMT markers, and cell viability in ectopic epithelial cells. PNX-14's ability to modulate these factors warrants further investigation to elucidate its role in the pathogenesis of endometriosis.

  • Kołacka, A.; Matthews-Kozancecka, M.; Komisarek, O.; Kwiatkowski, J.; Domagalska, A.; Samborski, W.; Mojs, E.; Andrusiewicz, M.; Malak, R. Understanding Parental Satisfaction in Caring for Children with Cerebral Palsy. Healthcare 2025, 13, 110, doi: 10.3390/healthcare13020110

Keywords: cerebral palsy; parents' life satisfaction; sten scores

Summary

Background/Objectives. The life satisfaction of parents of children with cerebral palsy should be assessed. Parenting a child with a disability may bring more challenges and efforts, impacting overall quality of life. Aim of the Study. The study aimed to evaluate the satisfaction with life of parents of children with cerebral palsy. Material and Methods. The study was designed to assess the satisfaction with life of parents of children with cerebral palsy. To measure this outcome, we developed an original survey consisting of 29 questions inspired by the Satisfaction With Life Scale (SWLS). The study involved 43 parents or legal guardians of children diagnosed with cerebral palsy. Results. A correlation was identified between parental life satisfaction and the amount of leisure time reported by parents (p = 0.004, R = 0.46). The research indicates that parental life satisfaction does not depend on the parent's satisfaction with the level of therapy (p > 0.05) and the degree of improvement in the child's functioning (p > 0.05). Conclusions. The level of parental life satisfaction does not depend on the level and outcome of therapy. The more leisure time the parents have, the greater their life satisfaction is. Parents of children with cerebral palsy should take care of their free time

  • Englert-Golon, M.; Tokłowicz, M.; Żbikowska, A.; Sajdak, S.; Kotwicka, M.; Jagodziński, P.; Pławski, A.; Andrusiewicz, M. HIF1A, EPAS1, and VEGFA: angiogenesis and hypoxia-related gene expression in endometrium and endometrial epithelial tumors. J. Appl. Genet. 2025. 10.1007/s13353-025-00939-7

Keywords: Endometrial cancer (EC); Hypoxia-inducible factors (HIFs); Hypoxia-inducible factor 1A gene (HIF1A); Hypoxia-inducible factor 2A/endothelial PAS domain protein 1 gene (HIF2A/EPAS1); Vascular endothelial growth factor A gene (VEGFA)

Summary

Abstract. Endometrial cancer (EC) is the second most frequent gynecological malignancy and the sixth most common cancer in women worldwide. EC incidence rate is increasing rapidly. Aim. The study aimed to compare the patterns of HIF1A, EPAS1, and VEGFA (genes of interest – GOIs) mRNA expression in 92 cases. Methods. The study aimed to compare the patterns of HIF1A, EPAS1, and VEGFA (genes of interest – GOIs) mRNA expression in 92 cases. Results. HIF1A and VEGFA levels were higher in EC patients than in controls. VEGFA differed significantly between controls and both tumor grades, G2 and G3, and we observed a positive correlation between HIF1A and VEGFA and EC grading. VEGFA levels were significantly higher in post-menopausal compared to pre-menopausal patients. All GOIs demonstrated strong correlations in pre-menopausal cases and weak correlations in post-menopausal cases. Multiple linear regression analyses revealed that menopause, body mass index (BMI), and HIF1A expression are significant factors that stimulate EC occurrence. HIF1A levels were higher in EC patients after adjusting for BMI and the number of comorbidities. The gene-to-gene relation could be seen as either a diagnostic or a therapeutic target in EC. Physicians should inform patients about modifiable risk factors such as BMI. Second, more attention should be paid to diagnosing patients with comorbidities at older ages and after menopause. Conclusions. HIF1A, EPAS1, and VEGFA should be considered in designing angiogenesis and hypoxia-related gene-targeting therapies.

2024

  • Stefaniak-Preis, U.; Kaczmarek, A.; Andrusiewicz, M.; Roszak, M.; Trzeszczyńska, N.; Samborski, W.; Mojs, E.; Malak, R. First Diagnostic Questionnaire for Assessing Patients’ Social Functioning: Comprehensive DDX3X Syndrome Patient Profile. J. Clin. Med. 2024, 13, 7842, doi: 10.3390/jcm13247842

Keywords: DDX3X syndrome; Autism spectrum disorder; Social functioning; Diagnostic tool; Neurodevelopmental delay; Neurodevelopmental disorder; Genetic testing; Early intervention

Summary

Background/Objectives. This study addresses the challenges in accurately diagnosing DDX3X syndrome, which is often mistaken for autism spectrum disorder (ASD) and other conditions, leading to potential delays in appropriate therapeutic interventions. Aim. The study aimed to identify key differences in social functioning, play, and communication between children with ASD, those with both ASD and DDX3X, and those with DDX3X alone. Methods. A custom-made questionnaire was developed and administered to parents, focusing on medical, social, play, and communication aspects of their children. Results. The analyses of 112 responses revealed inconsistent diagnoses across countries and significant differences in social skills, play, and communication domains among the groups, suggesting that individuals with DDX3X exhibit better social skills than those with ASD. Conclusion: This information may contribute to better diagnostic practices, and early identification of distinct features could lead to timely and tailored interventions, improving long-term developmental outcomes in DDX3X.

  • Banach, W.; Banach, P.; Szweda, H.; Wiśniewski, A.; Andrusiewicz, M.; Gurynowicz, I.; Szepieniec, W.K.; Szymanowski, P. Ovarian Teratoma-Associated Anti-NMDAR Encephalitis in Women with First-Time Neuropsychiatric Symptoms: A Meta-Analysis and Systematic Review of Reported Cases. Heliyon 2024, 10, e36042, doi: 10.1016/j.heliyon.2024.e36042

Keywords: Ovarian teratoma; Anti-NMDAR encephalitis; Neuropsychiatric symptoms; Psychotic episodes; Systematic review; Meta-analysis; Women's health; Autoimmune encephalitis

Summary

Background/Objectives. Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is frequently associated with ovarian teratomas but poses diagnostic challenges due to its diverse clinical presentations. Aim. The objective was to show the prevalence of neuropsychiatric symptoms of ovarian teratoma-associated anti-NMDAR encephalitis and highlight the importance of multidisciplinary collaboration. Methods. Literature searches were conducted using PubMed, Scopus, and Web of Science to retrieve data on patient characteristics, diagnostic methods, symptoms, and treatment strategies. Results. The study included 98 female patients, revealing a higher-than-expected prevalence of psychosis, seizures, hypoventilation, aphasia, and coma compared to the general population. Conclusions. The findings advocate for systematic investigation of teratoma-associated anti-NMDAR encephalitis in patients with first-time psychotic episodes, emphasizing prompt diagnosis and treatment, anti-NMDAR antibody screening, and awareness of the ovarian teratoma association to establish proper diagnosis.

  • Główka A.K., Kowalówka M., Burchardt P., Komosa A., Kruszyna Ł., Andrusiewicz M., Przysławski J., Karaźniewicz-Łada, M. Selected Psychosocial Factors, Nutritional Behavior, and the Analysis of Concentrations of Selected Vitamins in Patients with Cardiovascular Diseases. Nutr. 2024, Vol. 16, Page 1866 2024, 16, 1866. doi: 10.3390/nu16121866

Keywords: Psychosocial factors; Cardiovascular diseases; Eating behavior; Plasma vitamins; Fat-soluble vitamins; Nutrition; Lipid profile; Atherosclerosis; Hypertension

Summary:

Background/Objectives. Cardiovascular diseases (CVD) are a major global health concern, influenced by factors such as age, genetics, obesity, and psychological elements. Aim. The study aimed to assess the relationship between psychosocial factors, nutritional behaviors, and vitamin concentrations in patients with CVD. To investigate the influence of psychosocial and nutritional factors on the manifestation and progression of CVD. Methods. A study was conducted on 61 patients with CVD, assessing plasma concentrations of vitamins A, E, D, and β-carotene, alongside lipid profiles. Psychosocial factors and nutritional behaviors were evaluated using original questionnaires. Results. Deficiencies in 25-OH-D3, retinol, α-tocopherol, and β-carotene were prevalent. The lipid profile had no clear association with CVD. Dietary behavior slightly impacted biochemical parameters. Negative CVD impact on the quality of life was identified. Conclusions. The study emphasizes the significance of interdisciplinary collaboration among doctors, psychologists, and nutrition specialists to improve CVD prevention and management, given the complex interplay of psychosocial and nutritional factors.

  • Jendraszak M, Skibińska I, Kotwicka M, Andrusiewicz M. The Elusive Male Microbiome: Revealing the Link between the Genital Microbiota and Fertility. Critical Review and Future Perspectives. Crit. Rev. Clin. Lab. Sci. 2024, 1–29, doi: 10.1080/10408363.2024.2331489.

Keywords: Male microbiome; Genital microbiota; Fertility; Infertility; Sperm quality; Bacterial dysbiosis; Reproductive health; Urogenital tract; Testicular microbiome.

Summary:

Background/Objectives. Understanding the role of the male microbiome in fertility is gaining increasing attention, with recent discoveries revealing variations in composition across anatomical regions and with 16S ribosomal RNA (rRNA) amplicon sequencing, refinement of shotgun metagenomic sequencing, and the development of enhanced quantitative urine culture to gain insight from various databases, including MEDLINE (available via PubMed), SCOPUS, and Web of Science. This review aims to analyze the role of the male genital microbiota in relation to sperm quality and reproductive health by highlighting diagnostic and therapeutic implications. Aim. To assess the relationship between the male genitourinary microbiome and reproduction. Methods. The review queried MEDLINE, SCOPUS, and Web of Science for relevant studies, analyzing those that met inclusion criteria, focusing on semen quality or male fertility while adhering to a rigorous systematic review. Results. Analysis of fifty-one papers revealed a limited understanding of the male microbiome, with the prostate, seminal vesicles, and bulbourethral glands garnering significant interest. Further studies also found differences in bacterial diversity present in the testicular tissue of normozoospermic men compared to azoospermic men. Additionally, sexual activity influences urogenital microbiota. Conclusions. The review suggests exploring the microbial world within the male reproductive system and its influence on fertility opens doors to developing ways to prevent, diagnose, and treat infertility while utilizing standardized and deeper approaches for improving research methods.

2023

  • Walczak-Sztulpa J, Wawrocka A, Kuszel Ł, Pietras P, Leśniczak-Staszak M, Andrusiewicz M, Krawczyński M.R, Latos-Bieleńska A, Pawlak M, Grenda R, Materna-Kiryluk A, Oud M.M, Szaflarski W. Ciliary Phenotyping in Renal Epithelial Cells in a Cranioectodermal Dysplasia Patient with WDR35 Variants. Front. Mol. Biosci. 2023, 10, 1285790, doi: 10.3389/FMOLB.2023.1285790.

Keywords: Cranioectodermal dysplasia; CED; Ciliopathy; Renal disease; WDR35; hURECs; Ciliary phenotyping; Genetic analysis; Renal epithelial cells

Summary

Background/Objectives. Cranioectodermal dysplasia (CED) is a rare genetic disorder affecting skeletal and organ development, often leading to renal insufficiency. It is associated with defects in cilia structure and function. This study aimed to investigate the ciliary phenotype in a CED patient with variants in the WDR35 gene, which is known to be associated with CED. Aim. To perform cilium phenotyping in human urine-derived renal epithelial cells (hURECs) from a CED patient diagnosed with second-stage chronic kidney disease (CKD) and three unrelated and unaffected pediatric controls Methods. Genetic analysis by WDR35 screening was performed in the affected individual. Cilium frequency and morphology, including cilium length, height, and width, were evaluated by immunofluorescence (IF) experiments in hURECs using two markers visualizing the ciliary axoneme (Acet-Tub and ARL13B) and the base of the cilium (PCNT). The IF results were analyzed using a confocal microscope and IMARIS software. Results. Genetic analysis revealed compound heterozygous variants in the WDR35 gene, including a known nonsense variant and a novel missense variant. Additionally, array CGH analysis showed a microdeletion on chromosome 7q31.1. Ciliary phenotyping revealed morphological differences in the patient's cilia compared to controls, with the patient's cilia being significantly wider and longer. Conclusion: The findings suggest that CED-related CKD may be associated with cilia abnormalities in renal epithelial cells of patients with WDR35 variants. This study highlights the value of hURECs in functional testing for ciliopathies.

  • Kulińska KI, Szałkowska S, Andrusiewicz M, Kotwicka M, Billert H. The effect of local anaesthetics on apoptosis and NETosis of human neutrophils in vitro: comparison between lidocaine and ropivacaine. Hum Cell. 2023 Aug 17. doi: 10.1007/s13577-023-00963-x

Keywords: Neutrophils; Apoptosis; NETosis; Local anesthetics; Lidocaine; Ropivacaine; Inflammation; Cell death

Summary:

Background/Objectives. Neutrophil apoptosis and NETosis are critical processes in inflammation. Local anesthetics (LAs) can modulate leukocyte functions, but data on ropivacaine-induced NETosis are lacking. Aim. This study aimed to evaluate the impact of clinical concentrations of ropivacaine and lidocaine on apoptosis and NETosis of human neutrophils in vitro. Methods. Adult peripheral blood neutrophils were incubated with ropivacaine or lidocaine at clinical concentrations. Neutrophil identification, apoptosis (Annexin V and propidium iodide), and NETosis (citrullinated histone H3 and myeloperoxidase) were evaluated by flow cytometry. Results. Lidocaine and ropivacaine induced early apoptosis in resting neutrophils. Low doses of ropivacaine decreased the number of late apoptotic neutrophils and increased their viability. The drugs decreased NETosis at clinical concentrations, with lidocaine enhancing NETosis at high concentrations in stimulated neutrophils. Conclusions. Lidocaine and ropivacaine can alter apoptosis and NETosis in neutrophils, with ropivacaine tending to be cytoprotective. The effects depend on neutrophil stimulation and drug concentrations, influencing the course of inflammation.

  • Tokłowicz M, Żbikowska, A, Janusz P, Kotwicki T, Andrusiewicz M, Kotwicka M. MicroRNA Expression Profile Analysis in Human Skeletal Muscle Tissue: Selection of Critical Reference. Biomed. Pharmacother. 2023, 162, 114682, 10.1016/J.BIOPHA.2023.114682

Keywords: MicroRNA; Reference genes; Skeletal muscle; qPCR normalization; Spinal deformity; MyomiRs; Gene expression; Tissue specificity.

Summary:

Background/Objectives. MicroRNAs (miRNAs) are crucial regulators of gene expression, but a reliable quantitative assessment relies on the use of appropriate reference genes (RGs) for normalization. This study addresses the lack of consensus on optimal RGs for skeletal muscle tissue, particularly in the context of myomiR analyses. Aim. To assess RGs stability in skeletal muscle tissue in patients with spinal deformity. Methods. The stability of twelve miRNAs was evaluated in skeletal muscle tissue samples obtained from patients undergoing spinal deformity surgery, using the Delta Ct method, BestKeeper, NormFinder, and GeNorm plug-ins to analyze their expression. A comprehensive ranking was then created to compare the methods and indicate the best reference miRNA gene(s). Results. Three miRNAs (hsa-miR-486-5p, hsa-miR-191-5p, and hsa-miR-133a-3p) were identified as the most stable, while hsa-miR-208b-5p was deemed the least suitable RG for miRNA quantitative analyses in skeletal muscle tissue. Conclusions. The study recommends using a minimum of three RGs for RT-qPCR data normalization in muscle tissue and emphasizes the importance of considering qPCR efficiency to obtain consistent results.

  • Derwich A, Sykutera M, Bromińska B, Andrusiewicz M, Ruchała M, Sawicka-Gutaj N. Clinical Implications of MTOR Expression in Papillary Thyroid Cancer-A Systematic Review. Cancers (Basel). 2023, 15, 1665, 10.3390/CANCERS15061665

Keywords: mTOR; mTOR pathway; papillary thyroid cancer; PTC; mTOR inhibitors; Gene mutations; Target therapy; Disease progression

Summary

Background/Objectives. Papillary thyroid cancer (PTC) is the most common type of thyroid malignancy, and the mammalian target of rapamycin (mTOR) pathway plays a critical role in tumorigenesis. This systematic review aims to analyze the clinical implications of mTOR expression in PTC, including its association with clinicopathological features, such as TNM stage and BRAF V600E mutation, and to explore potential new targeted therapies involving mTOR inhibitors. Aim. To evaluate the link between the expression of the mTOR gene and protein, and its relationship with the PTC risks and clinical outcomes. Methods. A systematic literature search was conducted using the PubMed, Embase, and Scopus databases (2012–2022) to identify studies investigating mTOR expression in the peripheral blood or tissue of patients with PTC. The data on mTOR gene mutations, mTOR protein expression, and new targeted therapies in PTC were collected. Results. Eleven studies were included in the review. Increased mTOR expression was commonly observed in PTC patients, especially those with BRAF-V600E mutations. Certain mTOR polymorphisms were associated with clinical characteristics, including tumor stage. The mTOR protein was identified in PTC tissues and it appears to be related to more aggressive forms of PTC. The mTOR inhibitors have demonstrated limited efficacy, even when combined with other components. Multitarget tyrosine kinase inhibitors showed more promising potential. Conclusions. Mutations in the mTOR gene are rare in PTC, and mTOR activity appears to be associated with an independent type of mutation. The activation of the mTOR pathway appears to play a significant role in the pathogenesis of PTC, particularly in cases involving the BRAF-V600E mutation. Furthermore, the development of novel therapeutic.

  • Skibińska I, Andrusiewicz M, Jendraszak M, Żbikowska A, Żaba C, Kotwicka M. PELP1 and SRC kinase as important molecules in the estrogen-mediated pathway in human testis and epididymis.  Acta Biochim Pol. 2023 9;70(2):447-456. doi: 10.18388/abp.2020_6803

Keywords: Estrogen receptors; PELP1; SRC kinase; Testis; Epididymis; Steroid hormones; Estrogen signaling; Male reproductive tract.

Summary:

Background/Objectives. Estrogens play important roles in the male reproductive tract, modulating various proteins. PELP1 is one such protein, but little is known about the expression of modulators in estrogen-mediated pathways in male reproductive tissues. Aim. This study aimed to analyze the expression and potential links between estrogen receptors (ESR1 and ESR2), PELP1, and SRC kinase in human testis and epididymis. Methods. Autopsy specimens of testis and epididymis from 13 men were analyzed for the expression of ESR1, ESR2, PELP1, and SRC using western blot, immunocytochemistry, and RT-qPCR techniques. Results. SRC and PELP1 expression were significantly higher in the testis than in the epididymis. A positive correlation was observed between SRC and PELP1 regardless of tissue type, and PELP1 expression was positively correlated with ESR1 expression in the testis. Conclusions. This study suggests a possible relationship between PELP1, SRC, and ESR1 in the human testis and epididymis, contributing to the understanding of estrogen-mediated pathways in the male reproductive tract.

  • Skibińska I, Andrusiewicz M, Jendraszak M, Żbikowska A, Jędrzejczak P, Kotwicka, M. Expression of estrogen receptors, PELP1, and SRC in human spermatozoa and their associations with semen quality. Hum. Cell 2022. 10.1007/s13577-022-00847-6

Keywords: Spermatozoa; Estrogen receptors; proline-, glutamic acid-, and leucine-rich protein 1 (PELP1); SRC kinase; Semen quality; Steroid hormones; Xenoestrogens; Male infertility

Summary

Background/Objectives. Sperm cells are target cells for estrogens and xenoestrogens, which might affect sperm in a non-genomic mechanism. However, the estrogen receptor (ESR)-mediated signaling pathways are still poorly understood. Aim.  This study aimed to analyze the expression of estrogen receptors (ESR1 and ESR2) and their coregulators, proline-, glutamic acid-, and leucine-rich protein 1 (PELP1), as well as cellular kinase c-Src (SRC), in human spermatozoa and their associations with semen quality. Methods. Gene expression was analyzed in semen samples from 119 men using reverse-transcribed RNA as a template, followed by polymerase chain reaction. Protein presence was confirmed by Western blot and immunocytochemistry techniques. Semen samples were divided into groups based on normal or abnormal semen quality parameters, as defined by the WHO in 2010. Results. Gene expression ratios revealed significant, moderate, and negative correlations for ESR1/ESR2 and weak, negative correlations for ESR2/PELP1 in the subgroup of patients with abnormal semen parameters. In addition, SRC/PELP1 was moderately and positively correlated in the subgroup with parameters within the reference values established by WHO 2010. Conclusion: Both PELP1 scaffolding protein and SRC kinase might influence semen quality via ESRs. It seems that not the expression of a single gene, but rather the gene-to-gene ratio, may affect sperm quality. Characterization of genes related to the estrogen-signaling pathway's modulated expression in sperm cells could aid in a better understanding of sperm biology and quality.

  • Jendraszak M, Gałęcka M, Kotwicka M, Schwiertz A, Regdos A, Pazgrat-Patan M, Andrusiewicz M. Impact of Biometric Patient Data, Probiotic Supplementation, and Selected Gut Microorganisms on Calprotectin, Zonulin, and sIgA Concentrations in the Stool of Adults Aged 18–74 Years. Biomol 2022, Vol 12, Page 1781 (2022) 12:1781. https://doi.org/10.3390/BIOM12121781

Keywords: Calprotectin; Zonulin; sIgA; Mucosal barrier; Gut permeability; Stool biomarker; Gut microbiome; Probiotics; Microbiota

Summary:

Background/Objectives. Alterations in the intestinal barrier may be involved in the pathogenesis of various chronic diseases, which led to the development of non-invasive diagnostic markers of gut integrity and function. Aim. The study aimed to determine whether biometric and demographic data, often excluded in diagnostic analyses, affect calprotectin, zonulin, and sIgA biomarker values. Methods. Stool markers' levels in 160 samples were measured colorimetrically. The analysis of twenty key bacteria (15 genera and 5 species) was based on diagnostic tests. Results. The sIgA level was significantly lower in participants who reported probiotic supplementation, and there were significant differences in sIgA levels between age-related groups, with a decreasing sIgA concentration. The study also found complex interdependencies and relationships between the microbiota and the analyzed biomarkers. Conclusions. The study supports the need for standardized values of calprotectin and sIgA for correct clinical application, particularly in elderly patients. Also observed was a correlation between the composition of the gut community and biomarker levels, although it requires further in-depth analysis

  • Englert-Golon M, Tokłowicz M, Żbikowska A, Sajdak S, Kotwicka M, Andrusiewicz M. Differential expression of HIF1A, EPAS1, and VEGF genes in benign and malignant ovarian neoplasia. Cancers 2022;14, 4899. https://doi.org/10.3390/cancers14194899.

Keywords: ovarian cancer; prognostic biomarker; hypoxia-inducible factor 1-alpha (HIF1A); endothelial PAS domain protein 1/hypoxia inducible factor 2-alpha (HIF2A/EPAS1); vascular endothelial growth factor A (VEGFA).

Summary:

Background/Objectives. Ovarian cancer (OC) has a high mortality rate, and most patients have advanced disease at first clinical manifestation. Hypoxia and angiogenesis play significant roles in OC progression. Aim. To examine differences in mRNA levels of HIF1A, EPAS1/HIF2A, and VEGFA in cancerous tissue, benign ovarian changes, and normal tissue. Methods. Gene expression was evaluated using RT-qPCR in tissue samples from 52 patients diagnosed with OC (n = 55), benign non-cancerous changes (n = 21), and normal tissue samples (n = 38).  The analysis included assessment in subgroups related to menopausal status and the presence of comorbidities. Results. Gene expression changes were observed in the case-control study, coinciding with changes in severity. We observed disturbances in the expression levels of interdependent genes. Conclusions. Mutual association in the expression of both HIF1A and HIF2A/EPAS1 with VEGFA has prognostic importance for patients with OC. Our observations may help identify patients for clinical trials aimed at inhibiting the hypoxia-induced neovascularization-dependent pathways

  • Janusz P, Tokłowicz M, Andrusiewicz M, Kotwicka M, Kotwicki T. Association of LBX1 gene methylation level with disease severity in patients with idiopathic scoliosis: study on deep paravertebral muscles. Genes (Basel) 2022;13. https://doi.org/10.3390/genes13091556.

Keywords: Idiopathic scoliosis; scoliosis progression; DNA methylation; ladybird homeobox 1 gene (LBX1); pyrosequencing; paravertebral muscles; genetic association

Summary

Background/Objectives. Idiopathic scoliosis (IS) is a multifactorial disease with a genetic background. The association of Ladybird Homeobox 1 (LBX1) polymorphisms with IS has been demonstrated in multiple studies; however, the underlying epigenetic mechanisms have not been fully evaluated. Aim. The study aimed to evaluate the LBX1 methylation level in the deep paravertebral muscles and its association with the occurrence and/or severity of IS. Methods. Fifty-seven IS patients and 20 non-IS patients were examined for the methylation level of the LBX1 promoter region in the paravertebral muscles. Results. There was no significant difference in methylation level within paravertebral muscles between patients vs. controls, except for one CpG site. The methylation levels at the convex side of the curvature were found to be higher in patients with a major curve angle of >70°. Conclusions. In patients with severe IS, the deep paravertebral muscles show an asymmetric LBX1 promoter region methylation level, higher at the convex scoliosis side, which reveals the role of locally acting factors in IS progression

  • Kotwicki T, Tomaszewski M, Andrusiewicz M, Śliwa A, Rusin B, Kotwicka M. Estrogen Receptor Type 1 and Type 2 Presence in Paravertebral Skeletal Muscles: Expression Level and Relation to Phenotype in Children with Idiopathic Scoliosis. Genes (Basel) 2022;13. https://doi.org/10.3390/GENES13050739.

Keywords: Estrogen receptor 1; estrogen receptor 2; paravertebral skeletal muscles; idiopathic scoliosis; scoliosis angle; scoliosis progression; muscle asymmetry; gene expression; mRNA; Cobb angle.

Summary

Background/Objectives. Idiopathic scoliosis (IS) is a common spinal deformity in children with unclear causes. Prior research suggests that asymmetric expression of certain factors in paravertebral muscles might play a role. This study aims to investigate the presence and expression levels of estrogen receptors ESR1 and ESR2 in the paravertebral muscles of girls with IS, and how these relate to the severity and progression of scoliosis. Aim. To determine if ESR1 and ESR2 are present in the paravertebral muscles of IS patients and assess their gene expression levels in relation to scoliosis radiological parameters. Methods. Muscle samples were obtained from 35 female adolescents with IS during scoliosis correction surgery. The researchers then employed RT-qPCR, western blot, and immunohistochemistry techniques to assess the presence and expression levels of ESR1 and ESR2 in the deep and superficial paravertebral muscles. Results. Both ESR1 and ESR2 were detected in the paravertebral muscles. It was observed that ESR1 expression was significantly higher in deep muscles compared to superficial ones. Asymmetry in the expression of ESR1 and ESR2 in the deep muscles was linked to the Cobb angle and progression risk factor: symmetric expression was associated with lower Cobb angles and progression risk, while increasing asymmetry correlated with higher values. Conclusions. The study confirms the presence of ESR1 and ESR2 in paravertebral muscles in patients with idiopathic scoliosis. The increased expression and asymmetry of estrogen receptors in deep skeletal muscles correlate with the severity and progression risk of scoliosis. These findings may contribute to understanding the development and progression of IS in children.

  • Jaroszyńska Z, Andrusiewicz M, Wiśniewska K. Wiedza i postawy mieszkańców gminy Czaplinek w zakresie profilaktyki raka jelita grubego. J Educ Heal Sport 2022;12:65–91. https://doi.org/10.12775/JEHS.2022.12.01.006.

Keywords: Colorectal cancer; knowledge; attitudes; prevention; public health; screening; municipality residents; Poland; survey; health education.

Słowa kluczowe: Rak jelita grubego; wiedza; postawy; profilaktyka; zdrowie publiczne; badania przesiewowe; mieszkańcy gminy; ankieta; edukacja zdrowotna

Summary

Background/Objectives. Colorectal cancer (CRC) is a significant cause of cancer-related deaths in Poland. This study aimed to assess the knowledge and attitudes of residents in the Czaplinek Municipality (Poland) regarding CRC prevention. Aim. To evaluate the knowledge and attitudes of residents in Czaplinek, Poland, concerning the prevention of colorectal cancer. Methods. The research was conducted among 238 residents of the Czaplinek Municipality in Poland from October to December 2020 using a survey questionnaire. The data collected were analyzed statistically using Microsoft Excel and Statistica software. Results. Most respondents knew that early diagnosis increases recovery chances, but only half were aware that CRC can be asymptomatic. Knowledge of risk factors and symptoms was low. Overall, the respondents' knowledge was generally sufficient. Less than a third had heard of CRC screening programs. The overall knowledge regarding questions related to their family history of cancer and their level of education. Conclusions. The level of knowledge and attitudes regarding CRC prevention in Czaplinek Municipality is unsatisfactory. There is an urgent need for intensive educational activities, with a focus primarily on promoting and encouraging colorectal cancer screening.

Streszczenie

Wprowadzenie. Rak jelita grubego (RJG) jest istotną przyczyną zgonów związanych z rakiem w Polsce. Celem tego badania była ocena wiedzy i postaw mieszkańców gminy Czaplinek (Polska) w zakresie profilaktyki RJG. Cel. Ocena wiedzy i postaw mieszkańców Czaplinka w Polsce, w zakresie profilaktyki raka jelita grubego. Metody. Badanie przeprowadzono wśród 238 mieszkańców gminy Czaplinek w Polsce od października do grudnia 2020 r., stosując kwestionariusz ankiety. Zebrane dane poddano analizie statystycznej za pomocą programu Microsoft Excel i Statistica. Wyniki. Większość respondentów wiedziała, że wczesna diagnoza zwiększa szanse na wyleczenie, ale tylko połowa zdawała sobie sprawę, że RJG może przebiegać bezobjawowo. Wiedza o czynnikach ryzyka i objawach była niska. Ogólnie wiedza respondentów była na ogół wystarczająca. Mniej niż jedna trzecia słyszała o programach badań przesiewowych w kierunku RJG. Ogólna wiedza na temat pytań związanych z historią raka w rodzinie i wyższym poziomem edukacji. Wnioski. Poziom wiedzy i postaw dotyczących profilaktyki RJG w gminie Czaplinek jest niezadowalający. Istnieje pilna potrzeba intensywnych działań edukacyjnych, z ukierunkowaniem przede wszystkim na promocję i zachęcanie do badań przesiewowych w kierunku raka jelita grubego.

2021

  • Englert-Golon M, Andrusiewicz M, Żbikowska A, Chmielewska M, Sajdak S, Kotwicka M. Altered Expression of ESR1, ESR2, PELP1 and c-SRC Genes Is Associated with Ovarian Cancer Manifestation. Int J Mol Sci 2021;22:6216. https://doi.org/10.3390/ijms22126216.

Keywords: ovarian cancer; estrogen receptors (ESR1 and ESR2); proline-, glutamic acid-, and leucine-rich protein 1 (PELP1); proto-oncogene tyrosine-protein kinase c-Src (SRC); estrogen signal transduction coregulator

Summary

Background/Objectives. Ovarian cancer is a deadly gynecological malignancy. This study investigated the mRNA expression of estrogen-related pathways genes (ESR1, ESR2, PELP1, SRC) in ovarian cancer. Aim. To analyze ESRs, PELP1, and SRC mRNA expression association with ovarian tumorigenesis. Methods. Quantitative analyses were used to assess the mRNA expression and Western blot and immunohistochemistry were performed to establish presence and location. Results. PELP1 and SRC expression varied among different sample types, with expression patterns differed in cancer compared to controls. PELP1 had strongest protein immunoreactivity, and ESR1 weakest. Conclusions. The expression patterns analyzed genes, particularly PELP1 represent an interesting target in ovarian cancer

  • Jendraszak M, Gałęcka M, Kotwicka M, Regdos A, Pazgrat-Patan M, Andrusiewicz M. Commercial microbiota test revealed differences in the composition of intestinal microorganisms between children with autism spectrum disorders and neurotypical peers. Sci Rep 2021;11. https://doi.org/10.1038/S41598-021-03794-8.

Keywords: Autism spectrum disorders, gut microbiota, intestinal microorganisms, dysbiosis, probiotics, allergies, children

Summary

Background/Objectives. The gut microbiota is thought to impact emotional and cognitive development. Prior research suggests some gut bacteria are implicated in Autism Spectrum Disorder (ASD). This study looks at the intestinal composition in a Polish population based on the use of specific bacteria indicator. Aim.  This study aimed to compare the composition of gut microorganisms between healthy children, those with allergies (ALG), and those with ASD, using a commercial diagnostic test. Determine similarities/differences that may link imbalances with ASD. Methods. Fecal samples from 16 healthy children, 24 with allergies, and 33 with ASD (both probiotic and non-probiotic users) were analyzed. 19 gut microorganisms were evaluated. Agglomeration and correlation analyses were performed. Results. A significantly higher level of Klebsiella spp. was observed in healthy children. In non-probiotics cases, a higher Klebsiella spp. level in healthy children compared to allergies (ALG). No such group existed in the probiotic group of children . The study showed a correlation between these imbalances and certain specificities to the disease. Conclusion: Minor microbiota differences existed between ASD and neurotypical peers when assessed with the test. The knowledge could be use to understand therapeutic diets that are used for children with ASD by showing how different dietary treatments affect micro-organism growth, specifically with the introduction of pre- and post-biotics.

  • Sawicka‑Gutaj N, Shawkat S, Andrusiewicz M, Ziółkowska P, Czarnywojtek A, Gut P, et al. EZH2 and SMYD3 expression in papillary thyroid cancer. Oncol Lett 2021;21. https://doi.org/10.3892/OL.2021.12603.

Keywords: papillary thyroid cancer, SMYD3, EZH2, overexpression, tumor stage, progression, reverse transcription-quantitative PCR

Summary

Background/Objectives. The genes SMYD3 and EZH2, which encode histone methyltransferases, have been implicated in the development and aggressive behavior of various malignant tumors. Since epigenetic mechanisms are increasingly recognized for their roles in cancer, this study sought to investigate the expression of these genes in papillary thyroid cancer (PTC), the most common form of thyroid malignancy. The goal was to determine if there's any connection between their expression levels and specific clinical characteristics of PTC. Aim. To assess the expression levels of SMYD3 and EZH2 in PTC tissues and to determine the correlation between their expression and clinicopathological features such as tumor stage, lymph node involvement, and other indicators of disease progression. Methods. The study analyzed resected thyroid tissue samples from 62 patients diagnosed with PTC. To serve as a control group, thyroid tissue derived from the healthy regions of removed nodular goiters from 30 patients were used. The researchers employed reverse transcription-quantitative PCR (RT-qPCR) to detect the relative mRNA expression levels of the SMYD3 and EZH2 genes. They used established methods to assess and correlate gene expression with clinical factors. Primer sequences and TaqMan® hydrolysis probe positions for EZH2 and SMYD3 were determined using the Roche Universal ProbeLibrary Assay Design Center version 2.50. Results. EZH2 expression was detected in all thyroid cancer samples and in a significant majority (83.3%) of the benign lesions. Notably, EZH2 was observed to be upregulated in thyroid cancer tissues compared to the control tissues (P=0.0002), a statistically significant finding. The level of EZH2 expression showed a positive correlation with tumor stage (P<0.0001; r=0.504), suggesting that more advanced stages are associated with higher EZH2 levels. Multiple comparison analysis showed that the highest expression of EZH2 was detected in samples staged pT4 (P=0.0001), indicating that it increased with the highest tumor load. There were no statistical significant data regarding lymph node involvement with EZH2 results; however, the study confirmed some correlations to other cellular events. SMYD3 expression, on the other hand, was detected in nearly all thyroid cancer samples and in a high percentage (96.7%) of healthy thyroid tissues. The expression levels were similar in both the cancer and control groups, suggesting that SMYD3 expression alone doesn't differentiate PTC from healthy tissue. Additionally, no correlation was observed between SMYD3 expression and the various indicators of greater disease aggressiveness (e.g., lymph node involvement or multifocality). Conclusions. Histone methyltransferase EZH2 overexpression in papillary thyroid cancer (PTC) It seems to be a potential therapeutic target for papillary thyroid cancer. The lack of significant data between all EZH2 results and lymph node involvement as well as SMYD3 expression in tumors showed no support for aggressiveness of tumors

  • Janusz P, Chmielewska M, Andrusiewicz M, Kotwicka M, Kotwicki T. Methylation of Estrogen Receptor 1 Gene in the Paraspinal Muscles of Girls with Idiopathic Scoliosis and Its Association with Disease Severity. Genes (Basel) 2021;12. https://doi.org/10.3390/GENES12060790.

Keywords: spinal curvatures; scoliosis; idiopathic; DNA methylation; pyrosequencing; estrogen receptor 1; ESR1; scoliosis progression; adolescent idiopathic scoliosis

Summary

Background/Objectives. Idiopathic scoliosis is associated with epigenetic modifications. Methylation may regulate ESR1 expression. This study investigates the DNA methylation of the ESR1 gene. Aim. Analysis for the potential link between ESR1 methylation and IS. Methods. 87 muscle tissue samples were obtained from 29 female IS patients. Levels of methylation and relationship to various IS parameters assessed. Results.  Methylation was higher in superficial muscles than in deep paravertebral ones. Conclusions. DNA methylation of the T-DMRs is specific to muscle tissue location and may be related to ESR1 expression regulation

Keywords: Negative psychological aspects; Scientists; Animals; Laboratories; Experiments; Handling

Summary

Background/Objectives. This study aimed to reveal the negative psychological aspects that scientists face when using animals. Aim. To address a research question: "Does testing on animals have negative psychological effects on the experimenters?”. Methods. 150 participants who conduct experiments on animals were recruited via the internet. Results. Most of the respondents were women. There was no statistically significant difference between men and women in terms of age, time of experimentation, invasiveness of procedures, or the number of animals used in procedures. Conclusions. Both ethical reflection and training programs must be involved due to their importance in scientists' well-being.

  • Kulinska KI, Andrusiewicz M, Dera-Szymanowska A, Billert M, Skrzypski M, Szymanowski K, et al. Phoenixin as a New Target in the Development of Strategies for Endometriosis Diagnosis and Treatment. Biomedicines 2021;9. https://doi.org/10.3390/BIOMEDICINES9101427.

Keywords: Endometriosis; biomarkers; pain; G protein-coupled receptor 173 (GPR173); phoenixin (PNX); small integral membrane protein 20 (SMIM20).

Summary:

Background/Objectives. Endometriosis, a common gynecological disorder, lacks causal treatments. Phoenixin (PNX) and its receptor, GPR173, play a role in regulating the hypothalamic-pituitary-gonadal axis (HPG). This study aimed to determine the association between PNX and endometriosis, as well as the expression of SMIM20/PNX signaling via GPR173. Aim. Evaluate serum PNX, FSH, LH, and estradiol levels in women with and without endometriosis, and assess SMIM20/PNX and GPR173 expression in eutopic and ectopic endometrium. Methods. Electrochemiluminescence immunoassay measured serum hormone levels. qPCR and immunohistochemistry were used to assess SMIM20/PNX and GPR173 expression in endometrial tissues. Results. Reduced PNX serum level, increased LH/FSH ratio, and elevated estradiol were found in endometriosis patients. GPR173 expression was lower in the ectopic endometrium. SMIM20 expression was restricted to the stroma. Discriminant analysis highlighted the diagnostic value of PNX and LH/FSH ratio. Conclusions. Reduced PNX and GPR173 expression may cause HPG axis dysregulation in endometriosis. These findings may improve the understanding and may give new diagnostic and therapeutic strategies for endometriosis

  • Talarczyk-Desole J, Andrusiewicz M, Chmielewska M, Berger A, Pawelczyk L, Jȩdrzejczak P, et al. A Potential Relationship Between EstrogenReceptors Polymorphisms, Sperm Function and in vitro Fertilization Success: A Preliminary Study*. Postepy Hig Med Dosw 2021;75:304–16. https://doi.org/10.5604/01.3001.0014.8782.

Keywords: Male infertility, estrogen receptors, single nucleotide polymorphisms (SNPs), IVF - in vitro fertilization, ICSI - intracytoplasmic sperm injection.

Summary

Background/Objectives. Estrogens, traditionally considered female hormones, and their receptors (ESR1 and ESR2) are now recognized for their important roles in male reproductive physiology, including spermatogenesis and sperm function. Variations in the genes encoding these estrogen receptors (known as polymorphisms, specifically single-nucleotide polymorphisms or SNPs) might disrupt the finely tuned hormonal balance needed for optimal sperm production and function, potentially contributing to male infertility. This study seeks to explore whether specific SNPs in the ESR1 and ESR2 genes are associated with alterations in semen parameters (indicators of sperm quality) and the success rates of in vitro fertilization (IVF) procedures, specifically focusing on a population of Caucasian men. Aim. The aim was to evaluate the potential association between selected genetic variations (SNPs) within the ESR1 and ESR2 genes and both the characteristics of semen (concentration, motility, morphology, and viability) and the ultimate outcome of assisted reproductive technology (ART) procedures, measured by fertilization rates. Methods. 116 male patients undergoing IVF were included. 16 male patients undergoing IVF treatment were enrolled. Sperm samples were collected and assessed based on the 2010 WHO criteria for parameters. Blood samples were collected for the extraction of genomic DNA. Specific SNPs in the ESR1 and ESR2 genes were identified using polymerase chain reaction (PCR), followed by restriction fragment length polymorphism (RFLP) analysis. Patients were undergoing either classical IVF or intracytoplasmic sperm injection (ICSI), based on sperm quality. The association between genotypes, semen parameters, and fertilization rates was analyzed. Results. The ESR1 rs2234693 polymorphism (recognized by PvuII enzyme) was strongly associated with better scores of sperm functions. Men carrying the T allele for this SNP had a significantly lower rate of fertilization success. Conclusions. The study suggests that among several SNPs tested, a genetic link was found with higher semen parameters. It indicates the complex interplay between genetic factors and reproductive outcomes

2020

  • Borysiak K, Janusz P, Andrusiewicz M, Chmielewska M, Kozinoga M, Kotwicki T, et al. CHD7 gene polymorphisms in female patients with idiopathic scoliosis. BMC Musculoskelet Disord 2020;21:18. https://doi.org/10.1186/s12891-019-3031-0.
  • Chmielewska M, Janusz P, Andrusiewicz M, Kotwicki T, Kotwicka M. Methylation of estrogen receptor 2 (ESR2) in deep paravertebral muscles and its association with idiopathic scoliosis. Sci Rep 2020;10. https://doi.org/10.1038/S41598-020-78454-4.
  • Malak R, Kozłowska Z, Owsiańska Z, Sikorska D, Andrusiewicz M, Szymankiewicz-Bręborowicz M, et al. Cerebral tissue oxygenation during cranial osteopathic CV4 procedure in newborns. Adv Clin Exp Med 2020;29. https://doi.org/10.17219/ACEM/126048.
  • Dera-Szymanowska A, Chmaj-Wierzchowska K, Horst N, Stryjakowska K, Wirlstein P, Andrusiewicz M, et al. Immunomodulation inhibits the development of endometriosis in rats. J Physiol Pharmacol 2020;71. https://doi.org/10.26402/JPP.2020.1.14.

2019

  • Andrusiewicz M, Harasymczuk P, Janusz P, Biecek P, Żbikowska A, Kotwicka M, et al. TIMP2 Polymorphisms Association With Curve Initiation and Progression of Thoracic Idiopathic Scoliosis in the Caucasian Females. J Orthop Res 2019;37:2217–25. https://doi.org/10.1002/jor.24380.

2018

  • Sawicka-Gutaj N, Andrusiewicz M, Czarnywojtek A, Waligórska-Stachura J, Biczysko M, Skrobisz J, et al. Changes of Nicotinamide Phosphoribosyltransferase Expressions in Thyroid Glands of Patients with Different Thyroid Pathologies. Biomed Res Int 2018;2018. https://doi.org/10.1155/2018/1316390.
  • Skibińska I, Andrusiewicz M, Soin M, Jendraszak M, Urbaniak P, Jedrzejczak P, et al. Increased expression of PELP1 in human sperm is correlated with decreased semen quality. Asian J Androl 2018;20:425. https://doi.org/10.4103/aja.aja_11_18.

2017

  • Zybek-Kocik A, Sawicka-Gutaj N, Szczepanek-Parulska E, Andrusiewicz M, Waligórska-Stachura J, Białas P, et al. The association between irisin and muscle metabolism in different thyroid disorders. Clin Endocrinol (Oxf) 2017;88:460–7. https://doi.org/10.1111/cen.13527.
  • Andrusiewicz M, Skibińska I, Gąsiorowska E, Białas P, Kotwicka M. Fluorescence resonance energy transfer usage to track the sequence promoter changes in CGB5 gene in ovarian cancer patients. Biomed Pharmacother 2017;90:139–46. https://doi.org/10.1016/j.biopha.2017.02.113.
  • Waligórska-Stachura J, Sawicka-Gutaj N, Zabel M, Andrusiewicz M, Gut P, Czarnywojtek A, et al. Survivin DEx3 as a biomarker of thyroid cancers: A study at the mRNA and protein level. Oncol Lett 2017;13:2437–41. https://doi.org/10.3892/ol.2017.5713.
  • Andrusiewicz M, Komarowska H, Skibińska I, Chmielewska M, Jaskuła-Świtek M, Liebert W, et al. Expression of ghrelin and ghrelin functional receptor GHSR1a in human pituitary adenomas. Polish Arch Med 2017;127:1–7. https://doi.org/10.20452/pamw.3967.
  • Skibinska I, Tomaszewski M, Andrusiewicz M, Urbaniak P, Czarnecka-Klos R, Shadi M, et al. Expression of Estrogen Receptor Coactivator Proline-, Glutamic Acid- and Leucine-Rich Protein 1 within Paraspinal Muscles in Adolescents with Idiopathic Scoliosis. PLoS One 2016;11:e0152286. https://doi.org/10.1371/journal.pone.0152286.

2016

  • Andrusiewicz M, Słowikowski B, Skibińska I, Wołuń-Cholewa M, Dera-Szymanowska A. Selection of reliable reference genes in eutopic and ectopic endometrium for quantitative expression studies. Biomed Pharmacother 2016;78:66–73. https://doi.org/10.1016/j.biopha.2015.12.028.
  • Chmielewska M, Andrusiewicz M, Żbikowska A, Kątniak K, Sadowska A, Arasimowicz-Banaszak G, et al. Influence of ghrelin on rat pituitary GH3 cell line proliferation. J Med Sci 2016;85:281–8. https://doi.org/10.20883/164.

2015

  • Szczerba A, Adamska K, Warchol W, Andrusiewicz M, Nowak-Markwitz E, Jankowska A. Evaluation of CGB, GNRH1, MET and KRT19 Genes Expression Profile as a Circulating Tumor Cells Marker in Blood of Cancer Patients. J Mol Biomark Diagn 2015;s6:1–8. https://doi.org/10.4172/2155-9929.S6-004.
  • Waligórska-Stachura J, Andrusiewicz M, Sawicka-Gutaj N, Kubiczak M, Jankowska A, Liebert W, et al. Evaluation of survivin splice variants in pituitary tumors. Pituitary 2015;18:410–6. https://doi.org/10.1007/s11102-014-0590-9.
  • Sawicka-Gutaj N, Waligórska-Stachura J, Andrusiewicz M, Biczysko M, Sowiński J, Skrobisz J, et al. Nicotinamide phosphorybosiltransferase overexpression in thyroid malignancies and its correlation with tumor stage and with survivin/survivin DEx3 expression. Tumor Biol 2015;36:7859–63. https://doi.org/10.1007/s13277-015-3506-z.

2014

  • Kotwicki T, Janusz P, Andrusiewicz M, Chmielewska M, Kotwicka M. Estrogen receptor 2 gene polymorphism in idiopathic scoliosis. Spine (Phila Pa 1976) 2014;39:E1599–607. https://doi.org/10.1097/BRS.0000000000000643.
  • Janusz P, Kotwicka M, Andrusiewicz M, Czaprowski D, Czubak J, Kotwicki T. Estrogen receptors genes polymorphisms and age at menarche in idiopathic scoliosis. BMC Musculoskelet Disord 2014;15:383. https://doi.org/10.1186/1471-2474-15-383.
  • Waligórska-Stachura J, Andrusiewicz M, Sawicka-Gutaj N, Biczysko M, Jankowska A, Kubiczak M, et al. Survivin delta Ex3 overexpression in thyroid malignancies. PLoS One 2014;9:e100534. https://doi.org/10.1371/journal.pone.0100534.

2013

  • Janusz P, Kotwicki T, Andrusiewicz M, Kotwicka M. XbaI and PvuII Polymorphisms of Estrogen Receptor 1 Gene in Females with Idiopathic Scoliosis: No Association with Occurrence or Clinical Form. PLoS One 2013;8:e76806. https://doi.org/10.1371/journal.pone.0076806.

2012

  • Rusin B, Kotwicki T, Głodek A, Andrusiewicz M, Urbaniak P, Kotwicka M. Estrogen receptor 2 expression in back muscles of girls with idiopathic scoliosis - Relation to radiological parameters. Stud. Health Technol. Inform., vol. 176, 2012, p. 59–62. https://doi.org/10.3233/978-1-61499-067-3-59.

2011

  • Andrusiewicz M, Szczerba A, Wołuń-Cholewa M, Warchoł W, Nowak-Markwitz E, Gasiorowska E, et al. CGB and GNRH1 expression analysis as a method of tumor cells metastatic spread detection in patients with gynecological malignances. J Transl Med 2011;9:130. https://doi.org/10.1186/1479-5876-9-130.
  • Salaverria I, Philipp C, Oschlies I, Kohler CW, Kreuz M, Szczepanowski M, et al. Translocations activating IRF4 identify a subtype of germinal center-derived B-cell lymphoma affecting predominantly children and young adults. Blood 2011;118:139–47. https://doi.org/10.1182/blood-2011-01-330795.

2010

  • Jankowska A, Andrusiewicz M, Fischer N, Warchol J. Expression of hCG and GnRHs and their receptors in endometrial carcinoma and hyperplasia. Int J Gynecol Cancer 2010;20:92–101. https://doi.org/10.1111/IGC.0b013e3181bbe933.
  • Wołuń-Cholewa M, Szymanowski K, Andrusiewicz M, Warchoł W. Studies on function of P-glycoprotein in photodynamic therapy of endometriosis. Photomed Laser Surg 2010;28:735–40. https://doi.org/10.1089/pho.2009.2657.
  • Wołuń-Cholewa M, Szymanowski K, Andrusiewicz M, Szczerba A, Warchoł JBJB. Trichrome Mallory’s stain may indicate differential rates of RNA synthesis in eutopic and ectopic endometrium. Folia Histochem Cytobiol 2010;48:148–52. https://doi.org/10.2478/v10042-008-0106-4.

2009

2008

  • Jankowska A, Andrusiewicz M, Grabowski J, Nowak-Markwitz E, Warchol JB. Coexpression of human chorionic gonadotropin beta subunit and its receptor in nontrophoblastic gynecological cancer. Int J Gynecol Cancer 2008;18:1102–7. https://doi.org/10.1111/j.1525-1438.2007.01151.x.
  • Jankowska A, Gunderson SI, Andrusiewicz M, Burczynska B, Szczerba A, Jarmolowski A, et al. Reduction of human chorionic gonadotropin beta subunit expression by modified U1 snRNA caused apoptosis in cervical cancer cells. Mol Cancer 2008;7:26. https://doi.org/10.1186/1476-4598-7-26.
  • Jankowska A, Wasko R, Waligorska-Stachura J, Andrusiewicz M, Jaskula M, Liebert W, et al. Survivin products in pituitary tumors. Neuroendocrinol Lett 2008;29:1033–7. https://www.nel.edu/userfiles/articlesnew/NEL290608A06.pdf.
  • Wasko R, Jaskula M, Kotwicka M, Andrusiewicz M, Jankowska A, Liebert WWW, et al. The expression of ghrelin in somatotroph and other types of pituitary adenomas. Neuroendocrinol Lett 2008;29:929–38. https://www.nel.edu/userfiles/articlesnew/NEL290608A05.pdf

2006

2005

  • Wasko R, Jankowska A, Waligorska-Stachura J, Andrusiewicz M, Jaskula M, Sowinski J. Survivin expression in pituitary adenomas. Neuro Endocrinol Lett 2005;26:209–12. https://www.nel.edu/userfiles/articlesnew/NEL290608A05.pdf
  • Szczerba A, Jankowska A, Andrusiewicz M. Ekspresja genu DAZ w zespole samych komórek Sertolego. Przegląd Ginekol 2005;5(3):S10014050022.
  • Andrusiewicz M, Jankowska A, Szczerba A, Jasiński P, Nowak-markwitz E. Ekspresja i lokalizacja ß-podjednostki ludzkiej gonadotropiny kosmówkowej w nowotworach i rozrostach endometrium. Przegląd Ginekol 2005;5(3):S10014050023.

2004