Variants in ATRIP are associated with breast cancer susceptibility in the Polish population and UK Biobank.

Several breast cancer susceptibility genes have been discovered, but more are likely to exist. To identify additional breast cancer susceptibility genes, we used the founder population of Poland and performed whole-exome sequencing on 510 women with familial breast cancer and 308 control subjects. We identified a rare mutation in ATRIP (GenBank: NM_130384.3: c.1152_1155del [p.Gly385Ter]) in two women with breast cancer. At the validation phase, we found this variant in 42/16,085 unselected Polish breast cancer-affected individuals and in 11/9,285 control subjects (OR = 2.14, 95% CI = 1.13-4.28, p = 0.02). By analyzing the sequence data of the UK Biobank study participants (450,000 individuals), we identified ATRIP loss-of-function variants among 13/15,643 breast cancer-affected individuals versus 40/157,943 control subjects (OR = 3.28, 95% CI = 1.76-6.14, p < 0.001). Immunohistochemistry and functional studies showed the ATRIP c.1152_1155del variant allele is weakly expressed compared to the wild-type allele, and truncated ATRIP fails to perform its normal function to prevent replicative stress. We showed that tumors of women with breast cancer who have a germline ATRIP mutation have loss of heterozygosity at the site of ATRIP mutation and genomic homologous recombination deficiency. ATRIP is a critical partner of ATR that binds to RPA coating single-stranded DNA at sites of stalled DNA replication forks. Proper activation of ATR-ATRIP elicits a DNA damage checkpoint crucial in regulating cellular responses to DNA replication stress. Based on our observations, we conclude ATRIP is a breast cancer susceptibility gene candidate linking DNA replication stress to breast cancer.

Effectiveness of the Influence of Selected Essential Oils on the Growth of Parasitic Fusarium Isolated from Wheat Kernels from Central Europe.

The aim of the study was to determine the effectiveness of selected seven commercial essential oils (EsO) (grapefruit, lemongrass, tea tree (TTO), thyme, verbena, cajeput, and Litsea cubeba) on isolates of common Central European parasitic fungal species of Fusarium obtained from infected wheat kernels, and to evaluate the oils as potential natural fungicides. The study was conducted in 2 stages. At each stage, the fungicidal activity of EsO (with concentrations of 0.025; 0.05; 0.125; 0.25; 0.50; 1.0, and 2.0%) against Fusarium spp. was evaluated using the disc plate method and zones of growth inhibition were measured. At the first stage, the fungistatic activity of EsO was evaluated against four species of Fusarium from the Polish population (F. avenaceum FAPL, F. culmorum FCPL, F. graminearum FGPL and F. oxysporum FOPL). The correlation coefficient between the mycelial growth rate index (T) and the fungistatic activity (FA) was calculated. At the second stage, on the basis of the mycelium growth rate index, the effectiveness of the EsO in limiting the development of Fusarium isolates from the German population (F. culmorum FC1D, F. culmorum FC2D, F. graminearum FG1D, F. graminearum FG2D and F. poae FP0D) was assessed. The first and second stage results presented as a growth rate index were then used to indicate essential oils (as potential natural fungicides) effectively limiting the development of various common Central European parasitic species Fusarium spp. Finally, the sensitivity of four Fusarium isolates from the Polish population and five Fusarium isolates from the German population was compared. The data were compiled in STATISTICA 13.0 (StatSoft, Inc, CA, USA) at the significance level of 0.05. Fusarium isolates from the German population were generally more sensitive than those from the Polish population. The sensitivity of individual Fusarium species varied. Their vulnerability, regardless of the isolate origin, in order from the most to the least sensitive, is as follows: F. culmorum, F. graminearum, F. poae, F. avenaceum and F. oxysporum. The strongest fungicidal activity, similar to Funaben T, showed thyme oil (regardless of the concentration). Performance of citral oils (lemongrass and Litsea cubeba) was similar but at a concentration above 0.025%.

Genetics of Parkinson's disease in the Polish population.

INTRODUCTION: Genetic forms of Parkinson's disease (PD) often cluster in different ethnic groups and may present with recognisable unique clinical manifestations. Our aim was to summarise the current state of knowledge regarding the genetic causes of PD and describe the first Polish patient with SNCA duplication. METHODOLOGY: We searched the electronic database, PubMed, for studies between January 1995 and June 2020 that evaluated genetics in Polish patients with PD, using the search terms 'Parkinson's disease, 'Polish', 'genetics', 'mutations', and 'variants'. RESULTS: In total, 73 publications were included in the review; 11 genes responsible for monogenic forms and 19 risk factor genes have been analysed in the Polish population. Pathogenic variants were reported in four monogenic genes (LRRK2, PRKN, PINK1, and SNCA). Eight genes were associated with PD risk in the Polish population (GBA, TFAM, NFE2L2, MMP12, HLA-DRA, COMT, MAOB, and DBH). Multiplex ligation-dependent probe amplification and Sanger sequencing in PRKN, PINK1, DJ1, LRRK2, and SNCA revealed SNCA duplication in a 43-year-old Polish patient with PD examined by movement disorder specialists. CONCLUSION: Only a limited number of positive results have been reported in genes previously associated with PD in the Polish population. In the era of personalised medicine, it is important to report on genetic findings in specific populations.

Spirometry: A Need for Periodic Updates of National Reference Values.

The aim of the study was to assess the need for changes in spirometry reference values in the Polish population with time lapse, as the aftereffect of a radical socioeconomic overturn of the 1990. We retrospectively analyzed data files on forced expiratory volume in 1 s (FEV1), vital capacity (VC), and forced VC (FVC) in healthy, never-smoking Caucasians (731 females and 327 males) obtained in in 1993-1998. We assessed a discrepancy between the then measured values of these variables, on the one side, and the corresponding European Community for Steel and Coal (ECSC) predicted values or the current updated predicted values for the Polish population, on the other side. We found that those old measured values approximately corresponded to the ECSC reference, but they were appreciably lower than the current Polish reference values; the younger the subjects the greater the difference. The current Polish reference values of FVC were much closer to the old measured VC than to the old measured FVC values, which introduces a substantial discrepancy between the past and present FVCs. We conclude that the spirometry reference values may change with time lapse. Thus, accuracy of prediction equations should be periodically updated, which seems to particularly concern the equations elaborated for the nations that undergo rapid economic developments connected with changes in living standards.

Differences in food consumption in regions of Poland that had been previously under Austrian, Prussian and Russian annexations

Background: It seems that one of the factors affecting the way of nutrition in Poland was the dietary habits of countries that in the late 18th century made partitions, ie. Russia, Prussia and Austria. Therefore, nutrition models in the areas of individual partitions have undergone significant changes. Objective: The aim of the study was to check whether after 85 years after regaining independence there were still differences in the way of feeding indigenous inhabitants of areas previously under Austrian, Prussian and Russian annexation. Material and methods: The data collected during the WOBASZ survey carried out in the years 2003-2005 were used for the analysis. Results: The greatest differences in the way of feeding were found in the area that was previously under the rule of Prussia. The nutrition model was still largely reminiscent of typical German cuisine. There was a large consumption of sausages and spreads, and small vegetables and fruit. Nutrition models in other areas were less characteristic. Conclusions: The way of feeding indigenous people living in areas that were once partitions of Poland is still diverse and similar to the cuisine of the occupying country.

New variants in COL5A1 gene among Polish patients with Ehlers-Danlos syndrome: analysis of nine cases.

INTRODUCTION: The Ehlers-Danlos syndrome (EDS) is a non-inflammatory, heritable connective tissue disorder divided into 13 types according to the 2017 International Classification of the Ehlers-Danlos syndromes. One of the subtypes of EDS, classical (cEDS), is characterized by joint hypermobility, skin hyperextensibility and atrophic scars, which are major criteria of cEDS. AIM: In this study, the first in Central Eastern Europe, 44 patients were investigated. All of them were tested for COL5A1 mutations with direct DNA sequencing. MATERIAL AND METHODS: The study group included 44 patients of Polish origin, all of whom fulfilled criteria for the classical type of Ehlers-Danlos syndrome. Direct sequencing of the COL5A1, COL5A2 and COL1A1 c.934C>T genes was performed for all of them. Evaluation of potential pathogenicity of detected missense mutation was conducted using SIFT (Sorting Intolerant from Tolerant), PolyPhen-2, AlignGVGD (Align Grantham Variance/Grantham Difference). The effect of the splice site mutations was predicted by Human Splicing Finder and NetGene2 tools. RESULTS: Among all tested patients, nine mutations of COL5A1 gene were detected (8 missense mutations and 1 splice site). The alterations identified by us are new, hitherto not described in other reports. Evaluation of the mutations by in silico tools indicate their pathogenicity. CONCLUSIONS: Our study is the first COL5A1 gene molecular investigation conducted among cEDS patients from Central Eastern Europe. Besides new COL5A1 variant findings, we gained molecular confirmation of clinical diagnosis of cEDS. In some cases, specific and adequate evaluation and classification of EDS patients based only on clinical features, may be difficult.

The Myasthenia Gravis-specific Activities of Daily Living scale as a useful outcome measure and in routine clinical management in Polish patients.

INTRODUCTION: The Myasthenia Gravis-Activities of Daily Living scale (MG-ADL) is a short, and easy to use disease-specific quality of life during daily routine tool in myasthenia gravis. OBJECTIVES: The purpose of our work was to evaluate neurological condition patients with myasthenia gravis using the form MG-ADL in order to enable the introduction in common use of an instrument which allows for the assessment of patients with myasthenia gravis. PATIENTS AND METHODS: The total number of 50 patients with MG were qualified for the examination. Each patient underwent neurological examination and completed the quality of life evaluation questionnaire MQ-ADL. Additionally, each patient was asked to evaluate the quality of his/her life by means of questionnaire MG-QOL 15 and MG Composite in Polish language version. RESULTS: Our analysis showed a positive correlation with other scales used - MG-QOL 15, MGFA, MG Composite. The intensification of neurological symptoms showed significant relation with obtained higher number of points in MG-ADL questionnaire. The MG-ADL was found to have high internal consistency, test-retest reliability, and concurrent validity. CONCLUSION: We confirmed reliability and dependability of the questionnaire in the the test-retest assessment. The MG-ADL is accepted to be a reliable and valuable tool for measuring disease-specific QOL in Polish patients with MG.

Population-Specific Associations of Deleterious Rare Variants in Coding Region of P2RY1-P2RY12 Purinergic Receptor Genes in Large-Vessel Ischemic Stroke Patients.

The contribution of low-frequency and damaging genetic variants associated with platelet function to ischemic stroke (IS) susceptibility remains unknown. We employed a deep re-sequencing approach in Polish patients in order to investigate the contribution of rare variants (minor allele frequency, MAF < 1%) to the IS genetic susceptibility in this population. The genes selected for re-sequencing consisted of 26 genes coding for proteins associated with the surface membrane of platelets. Targeted pooled re-sequencing (Illumina HiSeq 2500) was performed on genomic DNA of 500 cases (patients with history of clinically proven diagnosis of large-vessel IS) and 500 controls. After quality control and prioritization based on allele frequency and damaging probability, follow-up individual genotyping of deleterious rare variants was performed in patients from the original cohort. Gene-based analyses identified an association between IS and 6 rare functional and damaging variants in the purinergic genes (P2RY1 and P2RY12 locus). The predicted properties of the most damaging rare variants in P2RY1 and P2RY12 were confirmed by using mouse fibroblast cell cultures transfected with plasmid constructs containing cDNA of mutated variants (FLIPR on FlexStation3). This study identified a putative role for rare variants in P2RY1 and P2RY12 genes involved in platelet reactivity on large-vessel IS susceptibility in a Polish population.

Investigations on renal vascularisation pathology in the Polish population. 1. Incidence of multiple kidney arteries.

BACKGROUND: The aim of the study was to determine the incidence of multiple kidney arteries in the Polish population. MATERIALS AND METHODS: The study group comprised 924 deceased patients aged between 1 month and 94 years (mean age: 63.4 ± 22.4 years) who were subject to aortonephrography and sample preparation. The ratio of male to female patients was 479:445. RESULTS: Multiple kidney arteries were observed in 44.8% male and 31.5% female patients (p = 0.004). Considering male patients, right multiple kidney arteries were diagnosed in 24.4%, and left multiple kidney arteries in 31.3% of cases (p = 0.017). In female patients, right multiple kidney arteries were observed in 17.8% of cases, and left multiple kidney arteries in 19.6% of cases (p = 0.49). CONCLUSIONS: The incidence of multiple kidney arteries in the Polish population is a frequent phenomenon, and should be considered in case of urological surgery and kidney transplantation.

Diagnosis, Clinical Presentation and Management of Celiac Disease in Children and Adolescents in Poland.

Celiac disease (CD) is a chronic immune-mediated disorder triggered by the ingestion of gluten in genetically predisposed individuals, affecting about 1% of the general population in the developed world. In 2012, the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) recommendations for CD diagnoses in children and adolescents were introduced, allowing the "no-biopsy" approach if certain criteria were met. This approach was also confirmed in the revised guidelines published in 2020. Thus, the aim of this study was to assess-over a one-year period-the clinical presentations and current status of the management of children and adolescents diagnosed with CD in Poland. Medical records of children and adolescents, newly diagnosed with CD in 2022/2023 in three medical centers in Poland, were involved. Gastroenterologists completed the specific anonymous web-based forms developed in the CD SKILLS project, including data routinely assessed at individual visits about the diagnostic approach and clinical presentation of the disease. Our study assessed 100 patients (56% girls) with an age range 1.6-18.0 years. We found that 98% of patients were serologically tested prior to a CD diagnosis and 58% of patients were diagnosed using the "no-biopsy" approach. In the analyzed group, 40% belonged to a known risk group, only 22% had annual screening before the CD diagnosis (the longest for 9 years), and 19% showed no symptoms at the time of the CD diagnosis. Our research confirmed the applicability of the "no-biopsy" approach for the diagnosis of CD in children and adolescents in Poland, and also showed changes in the clinical picture of CD. Moreover, we highlight the need to introduce broad CD serological screening in risk groups of the Polish population.

The Impact of Different Types of Diet on the Prevention of Diseases among Polish Inhabitants, Including COVID-19 Disease.

Proper nutrition may help in preventing deaths or at least alleviating the symptoms of many chronic diseases. While the COVID-19 disease was still taking its toll, the world had to adjust to new life conditions, which could change nutritional habits. In this observational, cross-sectional study, we aimed to identify the potential correlations between sociodemographic factors and diet and the presence of common chronic diseases among Polish inhabitants. Furthermore, we tried to determine whether the COVID-19 pandemic led to changes in nutritional habits. Therefore, based on the online study (the National Test for Poles' Health (NTPH), we collected data from 376,102 and 200,000 respondents in two different time frames (before the COVID-19 pandemic: 2019-2020 and during the COVID-19 pandemic: 2021-2022, respectively). Despite the rapid global rise of the COVID-19 pandemic, among our study group, hypertension was still the most commonly occurring disease in both time frames (32.33% in 2019-2020 and 34.95% in 2021-2022, p < 0.001). Furthermore, more chronic diseases were reported during the COVID-19 pandemic than in 2019-2020. Regarding sociodemographic factors, male respondents were more likely to develop hypertension and diabetes (OR = 1.35 CI 95% (1.28-1.43), p < 0.001; and OR = 1.20 CI 95% (1.11-1.30), p < 0.001). Vegetarian diet decreases the likelihood of hypertension, neurological disease, and diabetes (OR = 0.69, CI 95% (0.60-0.81), p < 0.001; OR = 0.72, CI 95% (0.59-0.88), p = 0.001; and OR = 0.73, CI 95% (0.55-0.96), p = 0.026). In line with this, consuming meat meals increases the risk of hypertension (OR = 1.09, CI 95% (1.02-1.17), p = 0.009). Interestingly, a reduced-sodium diet has an association with decreased morbidity of COVID-19 disease (OR = 0.72, CI 95% (0.63-0.82), p < 0.001). This result brings new light to more research to be done to allow efficient prevention of this disease. In conclusion, our study shows the beneficial role of a balanced diet in reducing the incidence rate of common chronic diseases. Our findings may be educational for those who would like to change their nutritional habits and/or for public health professionals to suggest the implementation of proper diets to their patients.

The mental condition of Polish adolescents during the COVID-19 pandemic and war in Ukraine.

Recently, the experience of the COVID-19 global pandemic has significantly affected the mental condition of entire societies by increasing anxiety and stress resulting from its sudden and completely unexpected nature. In Poland, apart from the pandemic, there is an ongoing threat of an armed conflict just across the border, which can constitute direct and indirect threats to physical and mental health. Each of these situations is unusual and difficult. It is also in sharp contrast to the developmental needs of children and adolescents. It especially violates the principal need of this developmental period, which is to grow up in a predictable as well as physically and emotionally safe environment. The purpose of the conducted research was to assess the psychological condition of Polish adolescents, whose social situation is difficult, in order to take appropriate preventive measures based on this assessment. The study was conducted using the "Who are You?" Scale of Transparency Anxiety and the Revised Child Anxiety and Depression Scale (RCADS), as well as a researcher-made survey containing questions about well-being in relation to the pandemic, distance learning and the ongoing war in a neighbouring country. Approval was obtained from the Bioethics Committee to conduct the projected research. The study included 945 adolescents aged 11 to 15 (M = 13.10; SD = 1.11) making a representative sample of adolescents from 14 regions in Poland. The results of the research and analyses show that the adolescents under study have a medium level of intensity of neuroticism, with the highest levels occurring in adolescents aged 14. Moreover, the adolescents manifest relatively lower symptoms of anxiety and depression as well as concern about the pandemic and the war in Ukraine than expected.

Identifying associations between the social network index, its components, and the prevalence of cardiovascular diseases in Polish adults. Results of the cross-sectional WOBASZ II study.

BACKGROUND: Psychosocial risk factors are important determinants of cardiovascular diseases (CVDs): people involved in positive relationships live longer than those with low social support (SS). AIMS: Our study aimed to evaluate the association between SS, components of the social network, and CVDs. METHODS: A cross-sectional population-based survey WOBASZ II conducted in the years 2013-2014 included a sample of 6043 individuals, aged 20 and over, who completed the Berkman-Syme questionnaire to assess SS using the social network index (SNI). RESULTS: Higher percentage of low SS was observed in women (52.15%) compared to men (45.4%) (P <0.001). People with a low SNI had a worse CVD risk factor profile. None of the analyzed social contacts (with children, relatives, or friends), regardless of how satisfactory they were, was associated with CVDs in men. In women, satisfying contact with children or relatives appeared to be associated with better cardiovascular health. Furthermore, active participation in organized social activity increased the chance of arrhythmia in both sexes: 1.50 (1.04-2.15); P = 0.029 in men; 1.47 (1.11-1.95); P = 0.007 in women. Although a low SNI was associated with analyzed CVDs in the univariate analysis, it was not confirmed in the fully adjusted model. CONCLUSIONS: More women had low SS compared to men. People with low SS had a worse CVD risk factor profile. There was a significant independent relationship between different components of the SNI, such as social contacts and CVDs in women and active participation in organized social activity and arrhythmia in both sexes.

More than a hundred thousand respondents within 48 h: How the power of social media helped to understand pregnancy loss in Poland - A retrospective population-based cohort study.

BACKGROUND: Miscarriage is defined as the loss of pregnancy before 20-24 weeks of gestation, and it is the most common complication of early pregnancy. The aim of the study was to determine the prevalence and risk factors of spontaneous abortion in the population of Polish females to provide a reference for clinical work. METHODS: A cross-sectional self-administered on-line survey was distributed between 4th and 5th of October 2019 in the social media across Poland. A total of 100,026 recipients responded to the questionnaire and 93,636 valid respondents were included in the analyses. RESULTS: Among respondents who had ever been pregnant, 31.2% reported at least one spontaneous abortion. The prevalence of miscarriage varied based on age, parity, place of residence and the education level. The first symptom of miscarriage was a vaginal bleeding (56.2%) and abdominal cramps (25.8%), while 43% of respondents had no symptoms and found out during doctor's visit. No medical assistance was required after complete spontaneous abortion in 39.2% of cases. CONCLUSIONS: Miscarriage is a common complication of pregnancy, but it is not yet fully understood. The goal of future medicine is to minimize the medicalization of spontaneous abortion and excessive medical intervention by raising awareness about natural miscarriage route.

The APOBEC3B c.783delG Truncating Mutation Is Not Associated with an Increased Risk of Breast Cancer in the Polish Population.

The APOBEC3B gene belongs to a cluster of DNA-editing enzymes on chromosome 22 and encodes an activation-induced cytidine deaminase. A large deletion of APOBEC3B was associated with increased breast cancer risk, but the evidence is inconclusive. To investigate whether or not APOBEC3B is a breast cancer susceptibility gene, we sequenced this gene in 617 Polish patients with hereditary breast cancer. We detected a single recurrent truncating mutation (c.783delG, p.Val262Phefs) in four of the 617 (0.65%) hereditary cases by sequencing. We then genotyped an additional 12,484 women with unselected breast cancer and 3740 cancer-free women for the c.783delG mutation. The APOBEC3B c.783delG allele was detected in 60 (0.48%) unselected cases and 19 (0.51%) controls (OR = 0.95, 95% CI 0.56-1.59, p = 0.94). The allele was present in 8 of 1968 (0.41%) familial breast cancer patients from unselected cases (OR = 0.80, 95% CI 0.35-1.83, p = 0.74). Clinical characteristics of breast tumors in carriers of the APOBEC3B mutation and non-carriers were similar. No cancer type was more frequent in the relatives of mutation carriers than in those of non-carriers. We conclude the APOBEC3B deleterious mutation p.Val262Phefs does not confer breast cancer risk. These data do not support the hypothesis that APOBEC3B is a breast cancer susceptibility gene.

Low Exercise Tolerance as a Marker of Erectile Dysfunction and Depression among Post-Myocardial Infarction Men.

Evidence has grown recently on the correlation between lifestyle and physical activity, and their impact on the functioning of the entire organism. In addition, a decrease in physical efficiency may be an indicator of the early diagnosis of systemic diseases. The aim of this study was to determine whether there is a relationship between exercise tolerance and possible erectile dysfunction or mental disorders. A cross-sectional study was conducted among 254 men in 4 cardiac rehabilitation centers in Poland using the standardized International Index of Erectile Function 5 (IIEF-5) and Beck Depression Inventory (BDI) questionnaires. Erectile dysfunction was directly proportional to the metabolic equivalent of the task (MET) variable. An increase in exercise tolerance by 1 point was associated with an increase in the IIEF-5 score by 1.62 points, indicating a reduction in the severity of erectile dysfunction. The 1-point increase in MET was associated with a 1.8-point decrease in BDI, indicating that an increase in exercise tolerance is associated with a decrease in the severity of depressive disorders. Increasing the tolerance of physical effort has a beneficial effect not only on the general well-being, but also on the sexual and mental health of men. An increase in exercise tolerance is associated with a reduction in the incidence of erectile dysfunction. On the other hand, in patients with depressive disorders, the improvement of exercise tolerance reduces the intensity of depression symptoms. Exercise tolerance can be an early and simple marker at the onset of erectile dysfunction or mood disorders.

The Genetic Diversity of Proteasome Genes in the T1DM Polish Population.

Autoimmune metabolic diseases generate numerous healthy and social problems. The possible association of SNPs in the ubiquitin-proteasome system (UPS) with human pathology is under intensive study. OBJECTIVE: In the present study, the genetic variations in PSMB5 (rs11543947), PSMA6 (rs2277460, rs1048990), PSMC6 (rs2295826, rs2295827) and PSMA3 (rs2348071) UPS gene cluster was investigated in type 1 diabetes and healthy donors in the Polish population. METHODS: The study comprised 105 patients with type 1 diabetes mellitus (T1DM) and 214 controls. All were genotyped by PCR and restriction digestion analysis or Sanger sequencing. RESULTS: Rs1048990 and rs2348071 were found to be neutral to T1DM (p-value: 0.499 and 0.656, respectively). According to the multiple loci genotype (MLG) analysis, the major homozygote of the tested polymorphisms had a protective effect. The most common MLG in the T1DM group was characterised by simultaneous risk factors at rs11543947, rs2277460, rs2295826 and rs2295827 (pvalue: <0.0001 vs. MGL1). Multiple locus haplotype analysis revealed a similar dependence, with common alleles at all tested loci demonstrating a protective effect, and the rare alleles increasing T1DM risk (p-value: <0.0001 vs. MLH1). CONCLUSION: Our study suggests that the proteasome gene polymorphisms rs11543947, rs2277460, rs2295826, and rs2295827 could be potential markers for T1DM susceptibility in the Polish population.

Blood donation practice and its associated factors among Polish population: secondary data analysis.

Introduction: Blood transfusion is an intervention widely used in therapeutics (e.g., in the perioperative period), thus, knowledge about factors associated with blood donation is important. The aim of this study was to investigate the impact of sociodemographic factors, personal values and life satisfaction on blood donation in Poland. Methods: Secondary analysis of data. A multiple logistic regression was carried out to assess the relationship between sociodemographic factors, life satisfaction (Satisfaction with Life Scale), personal values (Personal Values List) and blood donation. Results: Of the 770 respondents aged 18-65 years, 262 respondents (34%) donated blood at least once in their lives. Respondents who believed that blood donation is safe (OR = 1.71; Cl95%: 1.20 to 2.43), were male (OR = 1.47; Cl95%: 1.26 to 1.72), married (OR = 1.31; Cl95%: 1.11 to 1.54) and those with high school education (OR = 0.81; Cl95%: 0.66 to 0.99) were more often blood donors. Conclusion: Perceived blood donation safety and sociodemographic factors such as gender, marital status, and education level may influence blood donation. Health education is necessary to increase knowledge and shape positive attitudes toward blood donation among the society.

Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.

Differential distribution of genetic variants' frequency among human populations is caused by the genetic drift in isolated populations, historical migrations, and demography. Some of these variants are identical by descent and represent founder mutations, which - if pathogenic in nature - lead to the increased frequency of otherwise rare diseases. The detection of the increased regional prevalence of pathogenic variants may shed light on the historical processes that affected studied populations and can help to develop effective screening and diagnostic strategies as a part of personalized medicine. Here, we discuss the specific genetic diversity in Kashubs, the minority group living in northern Poland, reflected in the biased distribution of some of the repetitively found disease-causing variants. These include the following: (1) c.662A > G (p.Asp221Gly) in LDLR, causing heterozygous familial hypercholesterolemia; (2) c.3700_3704del in BRCA1, associated with hereditary breast and ovarian cancer syndrome; (3) c.1528G > C (p.Glu510Gln) in HADHA, seen in long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) deficiency, and (4) c.1032delT in NPHS2, associated with steroid-resistant nephrotic syndrome.

Mental and Sexual Health of Men in Times of COVID-19 Lockdown.

Due to the worldwide spread of COVID-19, some restrictions were introduced which could lead to the development of distress and somatic symptoms. This survey aimed to study the mental and sexual health of men during the COVID-19 outbreak. An online questionnaire was conducted to collect data on contact with people suspected of infection/infected with the SARS-CoV-2 virus, use of stimulants, and perceived mental and sexual health during isolation among Polish men. They were also asked to answer the Beck Depression Inventory (BDI) and the International Index of Erectile Function (IIEF-15) questionnaire. In total, 606 men with a mean age of 28.46 ± 9.17 years took part in the survey. Fear of contracting the COVID-19 infection had a negative impact on the mental health of 132 men (21.8%). Fear of the health condition of loved ones caused stress and a depressed mood in 253 men (41.7%), and media reports worsened the mental health of 185 men (30.2%). In the BDI, 71.95% of the respondents did not suffer from depressive symptoms, 17.33% were diagnosed with mild depression, 6.11% with moderate depression, and 4.62% had severe depression. The mean score in the IIEF-15 questionnaire in the erectile function domain was 22.27, orgasm-7.63, desire-8.25, satisfaction-10.17, and general satisfaction-6.84. Depressive symptoms indicated more severe sexual functioning disorders (p < 0.001). Fear, following the media, and loneliness were associated with more severe depressive and sexual disorders (p < 0.001). The libido level (p = 0.002) and frequency of sexual activity (p < 0.001) were also lower during the pandemic than before the lockdown. These data showed that the COVID-19 pandemic had a significant impact on male mental and sexual health.