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Abstract: The phase diagram of the Na2O-rich concentration region of the binary system Na2O–SiO2 was derived from STA measurements. The eutectic was established at about 1134±9K between 78 and 80 mole per cent of sodium oxide. The XRD measurements showed the existence of a crystal structure which was unknown so far. Its composition is most likely Na10SiO7 which was also deducted from the shape of the liquidus line obtained for all samples measured in the high Na2O concentration range of the binary system Na2O–SiO2. A second eutectic is placed between 85 and 87 mole per cent of sodium oxide at 1118±15K. The structure change of Na2O (β → α) should take place at 1243K but was not observed in any sample in the Na2O-rich concentration region of the binary system Na2O–SiO2. [Copyright &y& Elsevier]

W artykule przedstawiono konstytutywny model materiału podlegającemu przemianie fazowej wywołanej odkształceniami plastycznymi oraz rozwojowi uszkodzeń. Przemiana fazowa opisana jest modelem liniowym. Ponadto, w pracy uwzględniono izotropowy rozwój uszkodzeń. Opis konstytutywny został zaimplementowany w komercyjnym programie Abaqus/Explicit z wykorzystaniem zewnętrznej procedury użytkownika VUMAT. Dokonano symulacji testu jednoosiowego rozciągania w celu porównania wyników eksperymentalnych z numerycznymi. Jako przykład rzeczywistego elementu konstrukcyjnego, pracującego w warunkach temperatur kriogenicznych, dokonano symulacji pracy kompensatora.

The aim of study was to evaluate the usefulness of FT-Raman spectroscopy in assessing stress-induced metabolic changes in plants. 20-d-old optimally watered plants of soybean were exposed to drought. Metabolic changes in optimally watered and drought-stressed plants were monitored using FT-Raman spectroscopy. In parallel, analyses were carried out of fatty acid composition and pigment content using analytical methods. These compounds are associated with the response of plants to environmental stress. While fatty acid assays in study were inconclusive, the pigment content analysis gave promising results. FT-Raman experiment demonstrated a decrease in carotenoid content in leaf, as a result of drought, which was confirmed by spectrophotometric analysis. In addition to the analysis of aforementioned compounds, FT-Raman spectroscopy allowed the simultaneous observation of a wider spectrum of compounds scattering the radiation in the leaves tested, and their subsequent comparative analysis. The impact of drought on metabolism of soybean was clearly visible on spectra and confirmed using cluster analysis. The technical problem of the influence of leaf water content on measurements, which appeared in studies, will be discussed. To conclude, FT-Raman spectroscopy may be a good complement to other non-invasive methods, e.g., fluorescent methods, in assessing the stress-induced damage of crops.

Evidence indicates that there are significant alterations in gut microbiota diversity and composition in patients with hematological malignancies. The present study investigated the oral and intestinal microbiome in patients with chronic lymphocytic leukemia (CLL) (n=81) and age-matched healthy volunteers (HVs; n=21) using 16S ribosomal RNA next-generation sequencing. Changes in both oral and gut microbiome structures were identified, with a high abundance of Proteobacteria and depletion of Bacteroidetes in CLL as compared to HVs. Oral and stool samples of patients with CLL revealed a significant change in the abundance of short-chain fatty acid-producing genera in comparison with HVs. Furthermore, the relative abundance of oral and intestine Bacteroidetes was significantly decreased in patients with CLL with negative prognostic features, including unmutated immunoglobulin heavy chain gene (IGHV). Notably, an increased abundance of gut Firmicutes was found to be associated with high expression of CD38. Finally, the present study suggested the log Firmicutes/Bacteroidota ratio as a novel intestinal microbiome signature associated with a shorter time to first treatment in individuals with CLL. The findings indicate that oral and gut microbial diversity in CLL might point to the inflammatory-related modulation of the clinical course of the disease., Competing Interests: The authors declare that they have no competing interests., (Copyright: © 2024 Paziewska et al.)

Colorectal cancer (CRC) is one of the most frequent and mortality-causing neoplasia, with various distributions between populations. Strong hereditary predispositions are the causatives of a small percentage of CRC, and most cases have no transparent genetic background. This is a vast arena for exploring cancer low-susceptibility genetic variants. Nonetheless, the research that has been conducted to date has failed to deliver consistent conclusions and often features conflicting messages, causing chaos in this field. Therefore, we decided to organize the existing knowledge on this topic. We screened the PubMed and Google Scholar databases. We drew up markers by gene locus gathered by hallmark: oncogenes, tumor suppressor genes, genes involved in DNA damage repair, genes involved in metabolic pathways, genes involved in methylation, genes that modify the colonic microenvironment, and genes involved in the immune response. Low-penetration genetic variants increasing the risk of cancer are often population-specific, hence the urgent need for large-scale testing. Such endeavors can be successful only when financial decision-makers are united with social educators, medical specialists, genetic consultants, and the scientific community. Countries' policies should prioritize research on this subject regardless of cost because it is the best investment. In this review, we listed potential low-penetrance CRC susceptibility alleles whose role remains to be established.

Purpose: To present the two-day Delirium Awareness Day-related event held at the University Hospital, Kraków, Poland., Methods: Activities included a lecture, a multimedia presentation, meetings with healthcare workers at their respective wards, and distribution of information posters about delirium. Local news outlets were also engaged., Results: We reached out to approximately 300 persons in the hospital itself and several thousand via TV and radio broadcasts. We prompted interdisciplinary discussions about delirium, especially concerning preventive measures. The most common questions were how to alleviate symptoms as soon as possible, with the expectation of straightforward solutions for the non-geriatrician staff. Patient distress and burden on caregivers were important topics brought-up in the discussions., Conclusion: We demonstrated that our educational initiative was feasible and well-accepted among medical staff. Local media helped in building public understanding of delirium. Education about the syndrome should be one of the key societal tasks of geriatricians., (© 2024. The Author(s), under exclusive licence to European Geriatric Medicine Society.)

Lower bone mineral density (BMD) constitutes a common issue in inflammatory bowel disease (IBD). Studies often explore the association between BMD and folic acid level. The presented study aimed to evaluate the impact of MTHFR gene polymorphism and folic acid levels on BMD in patients with IBDs: Crohn's disease (CD) and ulcerative colitis (UC). The study group comprised IBD patients and a healthy control group. BMD, T-score, and Z-score of the lumbar spine (L1-L4) and femoral neck (FN) were assessed using dual-energy X-ray absorptiometry. Folic acid level was determined using direct chemiluminescence, and the MTHFR 677C > T (rs1801133) and 1298A > C (rs1801131) genotyping were performed by HRMA. Our study found no significant differences in the folic acid levels between the groups. Patients with CD and UC presented a lower BMD, T-score, and Z-score of the FN and L1-L4 than the CG. UC patients who were homozygotes AA in loci c.1298A>C presented lower than controls lumbar spine L1-L4 BMD and T-score values. Regarding MTHFR 677 polymorphism, we found that IBD patients carrying CC genotype demonstrated lower than controls femoral neck Z-score, lumbar spine L1-L4 BMD, T-score and Z-score. MTHFR polymorphisms were found to have no impact on folic acid concentrations. IBD patients presented a higher risk of low BMD than the healthy controls, regardless of MTHFR 677 and 1298 genotypes. However, MTHFR polymorphism may influence on bone in IBD patients. Nevertheless, it appears essential to conduct further studies., (© 2023. The Author(s).)

Acute viral respiratory infections have proven to be a major health threat, even after the Corona Virus Disease 2019 (COVID-19) pandemic. We aimed to check whether the presence or absence of an acute respiratory infection such as COVID-19 can influence the physical activity of older hospitalised patients. We cross-sectionally studied patients aged ≥60 years, hospitalized during the pandemic in the non-COVID-19 and COVID-19 ward at the University Hospital, Kraków, Poland. Using activPAL3 ® technology, we assessed physical activity for 24 h upon admission and discharge. In addition, we applied the sarcopenia screening tool (SARC-F); measured the hand grip strength and calf circumference; and assessed the Modified Early Warning Score (MEWS), age-adjusted Charlson Index, SpO2%, and length of stay (LoS). Data were analysed using SAS 9.4. The mean (min, max) age of the 31 (58% women, eight with COVID-19) consecutive patients was 79.0 (62, 101, respectively) years. The daily time (activPAL3 ® , median [p5, p95], in hours) spent sitting or reclining was 23.7 [17.2, 24] upon admission and 23.5 [17.8, 24] at discharge. The time spent standing was 0.23 [0.0, 5.0] upon admission and 0.4 [0.0, 4.6] at discharge. The corresponding values for walking were 0.0 [0.0, 0.4] and 0.1 [0.0, 0.5]. SARC-F, admission hand grip strength, calf circumference, and LoS were correlated with physical activity upon admission and discharge (all p < 0.04). For every unit increase in SARC-F, there was a 0.07 h shorter walking time upon discharge. None of the above results differed between patients with and without COVID-19. The level of physical activity in older patients hospitalised during the pandemic was low, and was dependent on muscular function upon admission but not on COVID-19 status. This has ramifications for scenarios other than pandemic clinical scenarios.

Multiple polyposes are heterogeneous diseases with different underlying molecular backgrounds, sharing a common symptom: the presence of transforming into cancerous intestinal polyps. Recent reports have indicated biallelic mutations in the NTHL1 gene, which is involved in base excision repair (BER), as predisposing to an elevated risk of colorectal cancer (CRC). We aimed to evaluate the significance of the p.Q82* truncating variant in predisposition to intestinal polyposis by assessing its frequency in polyposis patients. We genotyped 644 Polish patients and 634 control DNA samples using high-resolution melting analysis (HRM) and Sanger sequencing. We found the p.Q82* variant in four polyposis patients; in three, it was homozygous (OR = 6.90, p value = 0.202). Moreover, the p.R92C mutation was detected in one patient. We also looked more closely at the disease course in patients carrying NTHL1 mutations. Two homozygous patients also presented other neoplasia. In the family case, we noticed the earlier presence of polyps in the proband and early hepatoblastoma in his brother. We cannot univocally confirm the relationship of p.Q82* with an increased risk of CRC. However, homozygous p.Q82* was more frequent by 10-fold in patients without other mutations identified, which makes NTHL1 gene screening in this group reasonable.

Providing care to a woman after a Life-Limiting Fetal Conditions (LLFC) diagnosis is a difficult experience for midwives. This study's aim is to describe the experience of midwives assisting in births following an LLFC diagnosis. It is a qualitative study using Interpretative Phenomenological Analysis (IPA). Semi-structured in-depth interviews were conducted with 15 midwives with experience in caring for women giving birth following an LLFC diagnosis. The data was analyzed through coding using the MAXQDA tool. The main theme emerging from the experience of midwives concerned difficulty in interacting with the woman giving birth. The analysis singled out four subthemes containing the most significant issues arising from the experience of midwives in caring for a woman giving birth to a lethally ill child: in relation with the woman giving birth; in relation with the child and the family; in relation with oneself; and in relation with the workplace. Midwives should have access not only to solid knowledge about this question, but also to courses developing skills in dealing with difficult situations, in coping with stress, in expressing compassion and, most importantly, in communicating with women and their families in such difficult circumstances.

Introduction: One of the challenges of personalized medicine is a departure from traditional pharmacology toward individualized, genotype-based therapies. Postmenopausal osteoporosis is a prevalent condition requiring intensive treatment, whose effects are measurable only after a long time, and the goal is bone fracture prevention. This study aimed to determine the influence of VDR gene variation on anti-osteoporotic one-year treatment with denosumab in 63 Polish women with postmenopausal osteoporosis., Materials and Methods: The correlation between bone mineral density (BMD) of the lumbar vertebral column (L1-L4) and femoral neck, and genotype distributions for the ApaI , BsmI , FokI , and TaqI variants of the VDR gene was analyzed. Bone fractures during denosumab therapy were also investigated., Results: In the case of the Bsml polymorphism, female patients with BB and Bb genotypes had statistically significantly higher values of BMD and T-score/Z-score indicators, which persisted after a year of denosumab treatment. Our results indicated that the Bsml polymorphism contributes to better bone status, and, consequently, to more efficient biological therapy. The study did not reveal significant differences between changes (delta) in BMD and genotypes for the analyzed VDR gene loci . In the entire study group, one bone fracture was observed in one patient throughout the yearlong period of denosumab therapy., Conclusions: BB and Bb genotypes of the Bsml polymorphism of the VDR gene determine higher DXA parameter values both before and after one-year denosumab therapy in postmenopausal women with osteoporosis., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Wawrzyniak, Skrzypczak-Zielińska, Michalak, Kaczmarek-Ryś, Ratajczak, Rychter, Skoracka, Marcinkowska, Słomski, Dobrowolska and Krela-Kaźmierczak.)

Lethal fetal diagnosis defines severe developmental disorders that lead to the death of a fetus or newborn. Using semi-structured interviews, we explored the experiences of women in Poland who actively decided to continue with the pregnancy after diagnosis. We thematically analyzed data collected from 10 women. We identified four themes: pregnancy as an experience of prenatal motherhood; the child as person; birth as encounter and farewell; and the mother experience in retrospect. This study was conducted while the termination of pregnancy due to the irreversible fetal abnormality was legal in Poland. Since October 2021, it is no longer legal.

Cancer is one of the most common causes of death worldwide. A strong predisposition to cancer is generally only observed in colorectal cancer (5% of cases) and breast cancer (2% of cases). Colorectal cancer is the most common cancer with a strong genetic predisposition, but it includes dozens of various syndromes. This group includes familial adenomatous polyposis, attenuated familial adenomatous polyposis, MUTYH -associated polyposis, NTHL1 -associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, Lynch syndrome, and Muir-Torre syndrome. The common symptom of all these diseases is a very high risk of colorectal cancer, but depending on the condition, their course is different in terms of age and range of cancer occurrence. The rate of cancer development is determined by its conditioning genes, too. Hereditary predispositions to cancer of the intestine are a group of symptoms of heterogeneous diseases, and their proper diagnosis is crucial for the appropriate management of patients and their successful treatment. Mutations of specific genes cause strong colorectal cancer predispositions. Identifying mutations of predisposing genes will support proper diagnosis and application of appropriate screening programs to avoid malignant neoplasm.

Background: COVID-19 has affected older persons the most. The propensity to have severe COVID-19 or die of the infection was especially prevalent among older subjects with multimorbidity, frailty and sarcopenia. The aim of our study was to check which of the simple clinical biomarkers, including the assessment of muscle and frailty, would associate with the survival and the length of hospital stay in older patients with COVID-19. An additional aim was to report the influence of chronic diseases, chronic medication use, and COVID-19 signs and symptoms on the aforementioned outcome measures., Methods: The CRACoV study was a prospective single-center (University Hospital in Krakow, Krakow, Poland) observational study of clinical outcomes in symptomatic COVID-19 patients that required hospital treatment. We analysed data of persons aged ≥ 65 years. We assessed muscular parameters in accordance with EWGSOP2, frailty with the Rockwood Clinical Frailty Scale. We used the data of the initial and 3-month assessment. Demographic characteristics, past medical history, and baseline laboratory values were gathered as a part of routine care. We calculated sex and age, and additionally number-of-diseases adjusted odds ratios of mortality associated with studied factors and betas of the relation with these factors and the length of hospital stay., Results: The mean (standard deviation, SD) age of 163 participants (44.8% women, 14.8% died) was 71.8 (5.6) years, age range 65-89 years. One score greater SARC-F was associated with 34% (p = 0.003) greater risk of death, and 16.8 h longer hospital stay (p = 0.01). One score greater Rockwood was associated with 86% (p = 0.002) greater risk of death, but was unrelated to the length of hospital stay. Hand grip strength and dynapenia were unrelated to mortality, but dynapenia was related to longer hospital stay. Probable sarcopenia was associated with 441% (p = 0.01) greater risk of death., Conclusions: In conclusion, the patient assessment with SARC-F and the Rockwood Clinical Frailty Scale may significantly improve the prediction of outcomes in older patients with COVID-19 and by extension might be of use in other acute severe infections. This, however, requires further research to confirm., (© 2022. The Author(s).)

Objectives: Chronic lymphocytic leukemia (CLL) is a lymphoproliferative disease with heterogeneous clinical course. Recent studies revealed a link between NOTCH1 mutation and the overexpression of MYC and MYC-related genes involved in ribosome biogenesis and protein biosynthesis, such as nucleophosmin-1 (NPM1), in CLL cells. In the present study, we aim to evaluate the impact of the NOTCH1 mutation on the MYC and MYC induced NPM1 expression in CLL cells via quantification of their transcripts., Methods: Using qRT-PCR, we analyzed the levels of MYC and three main NPM1 splice variants in 214 samples collected from CLL patients. We assessed the impact of each splice variant on CLL prognostic markers, including the IGHV, TP53, NOTCH1, SF3B1, and MYD88 mutational status, cytogenetic aberrations, and laboratory features., Results: Significantly higher levels of NPM1.R1 transcripts in patients with unmutated compared to mutated IGHV status were found. The median time to first treatment (TTFT) in patients with a high level of NPM1.R1 was significantly shorter compared to the group with low NPM1.R1 levels (1.5 vs 33 months, p = 0.0002). Moreover, in Multivariate Cox Proportional Hazard Regression Model NPM1.R1 splice variant provided an independent prognostic value for TTFT., Conclusion: In conclusion, our study indicates the prognostic significance of the level of NPM1.R1 expression and suggests the importance of splicing alterations in the pathogenesis of CLL., Competing Interests: The authors have declared that no competing interests exist.

Background: Since the Russian invasion of Ukraine on Feb 24, 2022, more than 6 million Ukrainians, including hundreds of thousands of older people, have sought safety abroad. Older people generally have a higher burden of disease than younger people and the aim of our study was to estimate this burden in older Ukrainian refugees, given the potential financial and logistical impacts on the health-care systems of receiving countries., Methods: On May 20, 2022, we searched the official websites of the Polish Ministry of Digitisation for data on Ukrainian refugees who had applied between Feb 24, 2022, and May 19, 2022 for a Polish personal identification number (PESEL). We extracted the number of older people (ie, of pension age, which in Ukraine is 60 years or older for men, and 55 years or older for women). We calculated the percentage of older people among these PESEL applicants then extrapolated this percentage to two groups, for which population data had been extracted from UN, WHO, and Polish Border Guards websites: refugees who had crossed into Poland but had not applied for a PESEL and refugees who had fled to neighbouring countries other than Poland. Between April 4 and May 19, 2022, we searched the Ukrainian Ministry of Health official website for data on the prevalence and incidence of various diseases in the Ukrainian population of older people. We asked the Ukrainian Ministry of Health to confirm and expand on the website data, and thereby obtained annual data for 2010-17. The ministry did not supply tuberculosis statistics, so on May 21, 2022, we searched the Ukrainian Ministry of Health website and extracted the most recent tuberculosis data, which were for 2020. We then calculated the absolute prevalence and incidence of diseases in older refugees., Findings: As of May 19, 2022, 6·3 million Ukrainians had fled their country, including 3·5 million (56%) who had entered Poland. 1 114 418 people applied for a PESEL, including 109 985 older people (91 349 Ukrainian women aged 55 years or older and 18 636 Ukrainian men aged 60 or older). We estimated that the overall number of older Ukrainian refugees was 624 690. We estimated that these older refugees have a mean of 2·5 diseases each, the most frequent of which are cardiovascular diseases, followed by gastrointestinal, respiratory, musculoskeletal, and genitourinary diseases. We estimated that the expected absolute incidence is greatest for pulmonary disorders (71 689 diagnoses), followed by cardiovascular (49 327), ocular (24 100), musculoskeletal (20 367), and genitourinary (16 836) disorders. The estimated number of new diagnoses per year was 4578 for tuberculosis and 7827 for cancer., Interpretation: Our data indicate that the disease burden of older Ukrainian refugees is considerable. Although our estimates are only approximations, they provide a basis for predicting which areas of health care will most need to be reinforced to meet the challenge of the potential financial and logistical impacts on receiving countries., Funding: There was no funding source for this study., Competing Interests: Declaration of interests We declare no competing interests., (Copyright © 2022 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY-NC-ND 4.0 license. Published by Elsevier Ltd.. All rights reserved.)

The multifaceted activity of vitamin D in patients with inflammatory bowel disease (IBD) presents a challenge for further research in this area. Vitamin D is involved in the regulation of bone mineral metabolism, it participates in the regulation of the immune system, and it is an underlying factor in the pathogenesis of IBD. Additionally, vitamin D affects Th1 and Th2 lymphocytes, influencing the release of cytokines and inhibiting tumor necrosis factor (TNF) expression and the wnt/β-catenin pathway. As far as IBDs are concerned, they are associated with microbiota dysbiosis, abnormal inflammatory response, and micronutrient deficiency, including vitamin D hypovitaminosis. In turn, the biological activity of active vitamin D is regulated by the vitamin D receptor (VDR) which is associated with several processes related to IBD. Therefore, in terms of research on vitamin D supplementation in IBD patients, it is essential to understand the metabolic pathways and genetic determinants of vitamin D, as well as to identify the environmental factors they are subject to, not only in view of osteoporosis prevention and therapy, but primarily concerning modulating the course and supplementation of IBD pharmacotherapy.

There is currently no consensus among researchers on the optimal level of fluoride for human growth and health. As drinking water is not the sole source of fluoride for humans, and fluoride can be found in many food sources, this work aimed to determine the incidence and severity of dental fluorosis in Poland, in areas where a low fluoride content characterizes the drinking water, and to assess the impact of fluoride on the enamel composition and microstructure. The dental examination involved 696 patients (aged 15−25 years) who had since birth lived in areas where the fluoride concentration in drinking water did not exceed 0.25 mg/L. The severity of the condition was evaluated using the Dean’s Index. Both healthy teeth and teeth with varying degrees of fluorosis underwent laboratory tests designed to assess the total protein and fluoride content of the enamel. Protein amount was assessed spectrophotometrically while the level of fluoride ions was measured by DX-120 ion chromatography. The clinical study revealed 89 cases (12.8%) of dental fluorosis of varying severity. The enamel of teeth with mild and moderate fluorosis contained a significantly higher protein (p-value < 0.001 and 0.002, respectively) and fluoride level (p < 0.001) than those with no clinical signs of fluorosis. SEM images showed irregularities in the structure of the fluorotic enamel. An excessive fluoride level during amelogenesis leads to adverse changes in the chemical composition of tooth enamel and its structure. Moreover, dental fluorosis present in areas where drinking water is low in fluorides indicates a need to monitor the supply of fluoride from other possible sources, regardless of its content in the water.

Objective: The objective of the presented study was to investigate gender differences in the changes of value systems after a cancer diagnosis., Methods: In the study, we used the Polish adaptation of the Rokeach Value Survey and compared within-subject differences in the obtained results from before (retrospective) and after patients' cancer diagnosis. In the analysis, we used the Aranowska ω Coefficient of Choice and Single-Sample t-test statistics., Results: Generally, after cancer diagnosis communal values gained, and agentic - lost importance regardless of patients' gender. However, we found statistically significant effects of gender in value system changes, namely agency values ("independent" and "intellectual") become less important for men than women, while the communal value "Mature love" was placed higher by men than women., Conclusion: The results of the study confirm our initial hypothesis about significant gender differences in the changes of the value system., Practice Implications: Obtained knowledge can be used to better predict patient motivation and behavior in the face of oncological treatment. It is important that gender differences are considered in the process of cancer patients treatment. It can be beneficial for communication between a doctor and a patient and for counseling regarding coping with the disease., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Background: Chronic stress is one of the leading predisposing factors in bruxism aetiology, but the influence of genetic factors is also suggested. We aimed to study whether sequence variants in genes involved in stress regulation pathways: NTRK2 and BDNF, may be associated with awake bruxism susceptibility, clinical presentation, and patients' perceived stress level., Methods: The study group included 104 patients with probable awake bruxism and 191 population controls. Patients underwent dental examination concerning the symptoms of bruxism and psychological testing. Genotyping was performed using HRMA and sequencing. Statistical analyses were conducted, and P values below 0.05 were considered statistically significant., Results: We observed a positive correlation of measured stress level and pathological teeth attrition in the anterior segment (r = 0.45, P < 0.001), enamel attritions (r = 0.44, P < 0.001), tongue impressions (r = 0.50, P < 0.001) and posterior teeth attrition (r = 0.27, P = 0.005). Moreover, the c.196A variant (p.66Met) of the BDNF gene and c.1397-31392G allele of the NTRK2 gene were present with elevated frequency, comparing to controls., Conclusions: This study hence the thesis that perceived stress level is a substantial contributing factor to awake bruxism occurrence and its clinical manifestations. Moreover, sequence variants in genes related to stress coping may be correlated with awake bruxism's susceptibility via elevated perceived stress level., (© 2021. The Author(s).)

The genetic background and the determinants influencing the disease form, course, and onset of inflammatory bowel disease (IBD) remain unresolved. We aimed to determine the NOD2 gene haplotypes and their relationship with IBD occurrence, clinical presentation, and onset, analyzing a cohort of 578 patients with IBD, including children, and 888 controls. Imaging or endoscopy with a histopathological confirmation was used to diagnose IBD. Genotyping was performed to assess the differences in genotypic and allelic frequencies. Linkage disequilibrium was analyzed, and associations between haplotypes and clinical data were evaluated. We emphasized the prevalence of risk alleles in all analyzed loci in patients with Crohn disease (CD). Interestingly, c.2722G>C and c.3019&#95;3020insC alleles were also overrepresented in ulcerative colitis (UC). T-C-G-C-insC, T-C-G-T-insC, and T-T-G-T-wt haplotypes were correlated with the late-onset form of CD (OR = 23.01, 5.09, and 17.71, respectively), while T-T-G-T-wt and C-C-G-T-wt were prevalent only in CD children (OR = 29.36, and 12.93, respectively; p -value = 0.001). In conclusion, the presence of c.3019&#95;3020insC along with c.802C>T occurred as the most fundamental contributing diplotype in late-onset CD form, while in CD children, the mutual allele in all predisposing haplotypes was the c.2798 + 158T. Identifying the unique, high-impact haplotypes supports further studies of the NOD2 gene, including haplotypic backgrounds.

To provide a comprehensive analysis of the SARS-CoV-2 sequence diversity in Poland in the European context. All publicly available (n = 115; GISAID database) whole-genome SARS-Cov-2 sequences from Polish samples, including those obtained during coronavirus testing performed in our COVID-19 Lab, were examined. Multiple sequence alignment of Polish isolates, phylogenetic analysis (ML tree), and multidimensional scaling (based on the pairwise DNA distances) were complemented by the comparison of the coronavirus clades frequency and diversity in the subset of over 5000 European GISAID sequences. Approximately seventy-seven percent of isolates in the European dataset carried frequent and ubiquitously found haplotypes; the remaining haplotype diversity was population-specific and resulted from population-specific mutations, homoplasies, and recombinations. Coronavirus strains circulating in Poland represented the variability found in other European countries. The prevalence of clades circulating in Poland was shifted in favor of GR, both in terms of the diversity (number of distinct haplotypes) and the frequency (number of isolates) of the clade. Polish-specific haplotypes were rare and could be explained by changes affecting common European strains. The analysis of the whole viral genomes allowed detection of several tight clusters of isolates, presumably reflecting local outbreaks. New mutations, homoplasies, and, to a smaller extent, recombinations increase SARS-CoV-2 haplotype diversity, but the majority of these variants do not increase in frequency and remains rare and population-specific. The spectrum of SARS-CoV-2 haplotypes in the Polish dataset reflects many independent transfers from a variety of sources, followed by many local outbreaks. The prevalence of the sequences belonging to the GR clade among Polish isolates is consistent with the European trend of the GR clade frequency increase.

In the etiology of inflammatory bowel disease (IBD) and osteoporosis, the connecting element is the involvement of environmental and genetic factors. Vitamin D receptor (VDR) gene polymorphisms may be associated with the pathogenesis of IBD and bone mineral density (BMD). The study aimed to analyze the relationship between ApaI and FokI polymorphisms of the VDR gene, serum vitamin D concentration, and BMD in patients with IBD. The studied group consisted of 172 patients (85 with Crohn's disease [CD], 87 with ulcerative colitis [UC], and 39 healthy subjects - control group [CG]) were examined. Lumbar spine densitometry (L1-L4) and the femoral neck (FN) measurements were performed using dual-energy X-ray absorptiometry (DXA). Serum concentrations of 25-hydroxyvitamin D were determined using electrochemiluminescence binding assay (ECLIA). Polymorphisms were determined with polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). . We found no statistically significant differences in vitamin D concentration between the 3 studied groups. CD patients who were FF homozygotes had significantly lower FN BMD than FF homozygous from CG (p-value < 0.05). CD patients who were Aa heterozygotes had significantly lower lumbar spine (L2-L4) BMD than Aa heterozygotes from CG (p-value < 0.05). Among patients with the same polymorphic variants, but belonging to different studied groups, statistically significant differences in bone mineral density in the lumbar spine and the closer end of the femoral neck were observed. We consider that it is the disease entity, not the polymorphism variant, may have a decisive impact on BMD., (Copyright © 2020. Published by Elsevier Inc.)

The pandemic crisis of COVID-19 has caused anxiety and depressive symptoms to increase in many people worldwide. Yet, difficult situations may not only lead to various types of disorders, fears, anxieties and feelings of loss. They can also lead to positive changes, even to development or growth after experienced trauma, to positive adaptation, to changes in self-perception, changes in interpersonal relations or philosophy of life. Patients with chronic kidney disease, especially those on renal replacement therapy, often experience severe psychological problems such as anxiety disorders, depressive disorders, or difficulties related to coping with excessive stress. The aim of our review is to disscus the appropriatness of mental health screening tools in patients with chronic kidney disease, including those on dialyses, during COVID-19 pandemic. Recently published studies indicate the limited available data evaluating the diagnostic accuracy of screening tools for mental status in patients with chronic kidney disease. This, it seems reasonable to stress the mental health associations with situational stress in this group of patients during the SARS-CoV-2 pandemic. It is also worth pointing out the need to research the impact of the mental disorders in this population on morbidity and mortality, taking into account other organ complications and the quality of life of patients not only during the SARS-CoV-2 pandemic. It is worth to to make every effort to reduce the severity of the anxiety and feelings of hopelessness in dialysis patients, to cope with the pandemic.

Background: The presence of mitral annular calcification (MAC) affects prognosis in patients undergoing transcatheter aortic valve implantation (TAVI). MAC frequently coexists with calcifications of mitro-aortic continuity (CMAC)., Aims: We aimed at qualitative and semi-quantitative analysis of calcifications of the mitral complex - MAC and CMAC in multi-slice computed tomography, in order to assess their impact on the occurrence and dynamics of mitral regurgitation (MR) following TAVI., Methods: The study group consisted of 94 patients (mean [SD] age was 79.9 [8.02] years; 67.1% female). Agatston scale - Calcium Score was used for quantitative analysis. MAC and CMAC were also assessed semi-quantitatively as either non-severe or severe. MR following TAVI was defined as unchanged, improved or worsened by at least one degree., Results: Patients with MAC (59.6%) had higher mean aortic gradients (P = 0.02) and smaller left ventricular diastolic diameter (P = 0.002). Patients with CMAC (48.9%) had higher Calcium Score aortic valve (P = 0.006). After TAVI MR improved in 17 (18.1%) patients and worsened in 7 (7.5%) patients. In multivariable logistic regression analysis MR worsening was associated with higher CMAC (OR, 1.092; 95% CI, 1.006-1.185; P = 0.03), as well as bicuspid aortic valve (OR, 6.348; 95% CI, 1.048-38.436; P = 0.04)., Conclusions: CMAC was associated with MR worsening following TAVI. This is of relevance in procedural planning in patients with severe aortic stenosis (AS) and coexisting MR in whom arguments for and against surgical repair of concomitant mitral insufficiency are considered.

Bortezomib is the first-in-class proteasome inhibitor, commonly used in the treatment of multiple myeloma (MM). The mechanisms underlying acquired bortezomib resistance in MM are poorly understood. Several cell-free miRNAs have been found to be aberrantly regulated in MM patients. The aim of this pilot study was to identify a blood-based miRNA signature that predicts bortezomib-based therapy efficacy in MM patients. Thirty MM patients treated with bortezomib-based regimens were studied, including 19 with refractory disease and 11 who were bortezomib sensitive. Serum miRNA expression patterns were identified with miRCURY LNA miRNA miRNome PCR Panels I+II (Exiqon/Qiagen). Univariate analysis found a total of 21 miRNAs to be differentially expressed in patients with MM according to bortezomib sensitivity. Multivariate logistic regression was created and allowed us to discriminate refractory from sensitive patients with a very high AUC of 0.95 (95%CI: 0.84-1.00); sensitivity, specificity and accuracy were estimated as 0.95, 0.91, and 0.93. The model used expression of 3 miRNAs: miR-215-5p, miR-181a-5p and miR-376c-3p. This study is the first to demonstrate that serum expression of several miRNAs differs between patients who are bortezomib refractory and those who are sensitive which may prove useful in studies aimed at overcoming drug resistance in MM treatment.

The purpose of this study was to assess by multislice computed tomography (MSCT) imaging geometry of the ascending aorta, the aortic root, the aortic annulus and the left ventricle outflow tract (LVOT) in aortic stenosis (AS) patients, to compare aortic root morphology in patients with AS with healthy controls and to evaluate sex differences. Fifty patients with severe AS and 50 age- and gender-matched controls who underwent MSCT were included in the study. The dimensions of the LVOT, the aortic annulus, the aortic root, the ascending aorta, and the volume of the aortic root were retrospectively assessed and a comparison was made between patients with severe tricuspid AS and controls. Patients with tricuspid AS in comparison with controls had smaller dimensions of the sinus of Valsalva resulting in reduction of the aortic root volume, whereas the dimensions of the other structures were comparable. MSCT revealed larger annular, LVOT and the sinus of Valsalva dimensions and the aortic root volume in men than women. Men with AS differed from healthy men only in regard to the dimensions of the sinus of Valsalva, while women showed significant differences also in the LVOT, and the aortic annulus. MSCT showed accurately aortic root remodeling in tricuspid AS patients and indentified sex-dependent differences. Women with tricuspid AS differ from healthy women more than men did. A high degree of the variability in the aortic root dimensions requires further careful research.

The cannabinoid receptor type 1 (CB1R), a G protein-coupled receptor (GPCR), plays an essential role in the control of many physiological processes such as hunger, memory loss, gastrointestinal activity, catalepsy, fear, depression, and chronic pain. Therefore, it is an attractive target for drug discovery to manage pain, neurodegenerative disorders, obesity, and substance abuse. However, the psychoactive adverse effects, generated by CB1R activation in the brain, limit the use of the orthosteric CB1R ligands as drugs. The discovery of CB1R allosteric modulators during the last decade provided new tools to target the CB1R. Moreover, application of the site-directed mutagenesis in combination with advanced physical methods, especially X-ray crystallography and computational modeling, has opened new horizons for understanding the complexity of the structure, function, and activity of cannabinoid receptors. In this paper, we present the latest advances in research on the CB1R, its allosteric modulation and allosteric ligands, and their translational potential. We focused on structural essentials of the cannabinoid 1 receptor- ligand (drug) interactions, as well as modes of CB1R signaling regulation., Competing Interests: The authors declare no conflict of interest.

Decreased bone mass in patients with inflammatory bowel diseases (IBD) is a clinical problem with extremely severe consequences of osteoporotic fractures. Despite its increasing prevalence and the need for mandatory intervention and monitoring, it is often ignored in IBD patients' care. Determining the biomarkers of susceptibility to bone mineral density disorder in IBD patients appears to be indispensable. We aim to investigate the impact of estrogen receptor gene ( ESR1 ) gene polymorphisms on bone mineral density (BMD) in patients with ulcerative colitis (UC) and Crohn's disease (CD), as they may contribute both, to osteoporosis and inflammatory processes. We characterised 197 patients with IBD (97 with UC, 100 with CD), and 41 controls carrying out vitamin D, calcium and phosphorus serum levels, and bone mineral density assessment at the lumbar spine and the femoral neck by dual-energy X-ray absorptiometry (DXA), ESR1 genotyping and haplotype analysis. We observed that women with CD showed the lowest bone density parameters, which corresponded to the ESR1 c.454-397T and c.454-351A allele dose. The ESR1 gene PvuII and XbaI TA (px) haplotype correlated with decreased femoral neck T-score (OR = 2.75, CI = [1.21-6.27], P -value = 0.016) and may be predictive of osteoporosis in female patients with CD.

Background: Colorectal cancer (CRC) and inflammatory bowel disease (IBD) are the most prevalent diseases of the digestive system, and their association is unequivocal. A long-standing inflammatory process is one of the causes of sporadic as well as inherited cancers as it impacts on malignant transformation in a wide variety of neoplastic diseases, including colorectal cancer., Methods: An extensive publication search was performed in Medline and PubMed database. The keywords: colorectal carcinoma, inflammation, Crohn disease, ulcerative colitis and inflammatory bowel disease were used., Results: The nucleotide-binding oligomerization domain-containing protein 2 (NOD2) and toll like receptor (TLR) signaling pathways are clearly involved in the inflammatory process and are therefore implicated in the transformation of normal colonic mucosa to premalignant and malignant disease. Focal sites of inflammation could significantly increase the risk of initiation and development of cancer. Altered inflammatory activity is likely to be a result of either a disturbance of intestinal bacterial flora or an inadequate cellular response to it. Additionally, increasing the level of inflammation-related factors may also interfere with the control of cellular proliferation., Conclusions: This review shows an overview of the genetic and environmental factors that appear to influence both the occurrence of IBD and CRC with particular reference to NOD2 and TLRs as well as pro- and anti-inflammatory cytokines associated with tumor initiation and progression (encompassing both tumor invasion and metastases), as they constitute potential targets for therapeutic intervention., Competing Interests: Competing interestsThe authors declare that they have no competing interests.

Background: A common feature in the etiology of inflammatory bowel disease (IBD) and osteoporosis is a complex genetic background. Moreover, it has been shown that some of the susceptibility loci overlap for both diseases. One of the genes that may be involved in the pathogenesis of IBD as well as decreased bone mass is the vitamin D receptor (VDR) gene., Objectives: The aim of this study was to investigate the association of the TaqI polymorphism (rs731236, c.1056T >C) in the VDR gene with serum vitamin D concentration and bone mineral density (BMD) in patients with IBD., Material and Methods: A total of 172 IBD patients (85 with Crohn's disease (CD) and 87 with ulcerative colitis (UC)) and 39 healthy controls were enrolled in the study. Polymorphism was determined with polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Bone mineral density was measured at the lumbar spine (L2-L4) and the femoral neck (FN) using dual-energy x-ray absorptiometry (DEXA). Serum concentrations of 25-hydroxyvitamin D were determined using electrochemiluminescence binding assay (ECLIA)., Results: Our studies revealed that serum vitamin D concentration in IBD patients was not lowered in comparison with healthy controls. Patients with CD presented more advanced osteopenia and osteoporosis. Individuals with UC carrying the TaqI tt genotype of VDR gene showed significantly higher FN BMD than carriers of TT and Tt genotypes (p = 0.02). Moreover, tt genotype was present with higher frequency in UC patients than in controls and CD patients (23% vs 7.7% and 16.5%, respectively)., Conclusions: The tt genotype may have a protective effect on BMD in UC patients.

Long non-coding RNAs (lncRNA) are dysregulated in many cancer types. Abnormal baseline levels of these lncRNAs display diagnostic and prognostic potential in cancer patients. The aim of this study was to evaluate the prognostic value of plasma lncRNAs in BRAF -mutant advanced melanoma patients treated with a BRAF inhibitor. Total RNA was isolated from plasma samples collected from 58 advanced BRAF-mutant melanoma patients and 15 healthy donors. The expression levels of 90 lncRNAs were estimated using the LncProfiler qPCR Array Kit (SBI) and LightCycler 96 (Roche). LncRNA expression levels correlated with responses to the BRAF inhibitor (vemurafenib) treatment. The patients were stratified into three groups based on their lncRNA levels with various lncRNA expressions (low, medium, and high). A Cox proportional hazards regression model was used to determine the lncRNAs that were significantly associated with both progression-free and overall survivals (PFS and OS, respectively) in patients receiving vemurafenib. The expression level of 12 lncRNAs was down-regulated, while five lncRNAs were up-regulated in melanoma patients compared to healthy donors. Kaplan-Meier analysis showed that upregulation or downregulation of 11 and 16 different lncRNAs were associated with longer median PFS and OS, respectively. Further analysis demonstrated that the baseline lncRNAs for IGF2AS, anti-Peg11, MEG3, Zeb2NAT are independent prognostic factors in BRAF -mutant advanced melanoma patients treated with vemurafenib. Evaluation of plasma lncRNAs expression level for advanced melanoma diagnosis and prognosis evaluation appears to be a safe and valuable method; however, this method requires further validation in larger cohorts and randomized trials., Competing Interests: CONFLICTS OF INTEREST The authors declare that they have no competing interests.