Search

Introduction: The diversity of information on social media provides a ubiquitous possibility for social comparison. Online social comparisons have both detrimental and beneficial effects; besides lowering one’s self-esteem, heightening loneliness and addiction, they also bring together people with similar interests which may offer a form of social support. Aims: This study examines a path model for understanding the link between social comparison and social media addiction while examining online social support, loneliness, and self-esteem. Methods: Hungarian university students (N = 201, 70.6% women, aged between 18 and 30 years, SD = 2.77) completed an online survey in the spring of 2022. Results: The final path model suggests that social comparison can directly contribute to social media addiction. This link was mediated by loneliness and self-esteem, resulting in a path with different outcomes: a) social comparison may strengthen loneliness (β = .22, p < .001) which can lead to lower self-esteem (β = .60, p < .001), and b) social comparison may have a negative effect on self-esteem (β = -.22, p < .001) which can reduce social media addiction (β = -.26, p < .001). In addition, social comparison may help obtain online social support (β = .15, p < .050) which can reduce loneliness (β = -.41, p < .001) but increase the likelihood of addiction (β = .26, p < .001). Conclusions: These findings draw attention to the double-edged sword of social comparison and online social support: we need to learn to consciously manage online social comparison tendencies.

Abstract The role of spirituality in health and disease is a complex and emerging area of research. Incorporating spirituality into the bio-psycho-social model of health and disease leading to the bio-psycho-social-spiritual model provides a more comprehensive framework. In this context, chronic disorders like primary Sjögren’s syndrome (pSS) are of interest due to their intricate interactions between biological, psychological, and spiritual factors. This study explored the relationship between spirituality, immune parameters, and disease activity in pSS patients. Data from 108 patients were analyzed, including self-assessed spirituality (answering to direct questions and completing the Spiritual Transcendence Scale), immunological parameters and disease activity scores. The findings revealed several associations. Individuals with spiritual attitudes or engaged in regular prayer/meditation showed lower serum levels of autoantibodies specific to pSS and lower disease activity scores. Spiritual engagement was also linked to decreased perceived skin and tracheal dryness, suggesting potential benefits for physical symptoms. These findings suggest that spirituality may play a significant role in modulating immune responses and disease activity in pSS patients. The study underscores the importance of considering spirituality as an integral part of the holistic approach to health and disease, further expanding the understanding of the interconnectedness of biological, psychological, and spiritual dimensions.

Abstract Background Premature ovarian insuffiency (POI) is one of the main cause behind infertility. The genetic analysis of POI should be part of the clinical diagnostics, as several genes have been implicated in the genetic background of it. The aim of our study was to analyse the genetic background of POI in a Hungarian cohort. Methods The age of onset was between 15 and 39 years. All patients had the 46,XX karyotype and they were prescreened for the most frequent POI associated FMR1 premutation. To identify genetic alterations next-generation sequencing (NGS) of 31 genes which were previously associated to POI were carried out in 48 unrelated patients from Hungary. Results Monogenic defect was identified in 16.7% (8 of 48) and a potential genetic risk factor was found in 29.2% (14 of 48) and susceptible oligogenic effect was described in 12.5% (6 of 48) of women with POI using the customized targeted panel sequencing. The genetic analysis identified 8 heterozygous damaging and 4 potentially damaging variants in POI-associated genes. Further 10 potential genetic risk factors were detected in seven genes, from which EIF2B and GALT were the most frequent. These variants were related to 15 genes: AIRE, ATM, DACH2, DAZL, EIF2B2, EIF2B4, FMR1, GALT, GDF9, HS6ST2, LHCGR, NOBOX, POLG, USP9X and XPNPEP2. In six cases, two or three coexisting damaging mutations and risk variants were identified. Conclusions POI is characterized by heterogenous phenotypic features with complex genetic background that contains increasing number of genes. Deleterious variants, which were detected in our cohort, related to gonadal development (oogenesis and folliculogenesis), meiosis and DNA repair, hormonal signaling, immune function, and metabolism which were previously associated with the POI phenotype. This is the first genetic epidemiology study targeting POI associated genes in Hungary. The frequency of variants in different POI associated genes were similar to the literature, except EIF2B and GALT. Both of these genes potential risk factor were detected which could influence the phenotype, although it is unlikely that they can be responsible for the development of the disease by themselves. Advances of sequencing technologies make it possible to aid diagnostics of POI Since individual patients show high phenotypic variance because of the complex network controlling human folliculogenesis. Comprehensive NGS screening by widening the scope to genes which were previously linked to infertility may facilitate more accurate, quicker and cheaper genetic diagnoses for POI. The investigation of patient’s genotype could support clinical decision-making process and pave the way for future clinical trials and therapies.

Major conceptual models of ADHD and learning disabilities underscore the adverse effects they have on academic performance and dropout from university. Therefore, identifying psychological risks and protective factors can aid in managing academic challenges and decreasing dropout rates. In this cross-sectional study, a sample of 395 Hungarian college students (66.6% female, mean age 23.72 years [SD = 3.87]) responded to an online survey including the Adult ADHD Self-Report Scale, Beck Depression Inventory, General Self-Efficacy Questionnaire, Academic Resilience Scale, and the Higher Education Retention Questionnaire. Path analysis indicated that depression and academic resilience mediate the relationship between ADHD symptoms and dropout intention, while self-efficacy moderates this association. The findings highlight the critical role of psychological factors in shaping academic dropout for college students with ADHD symptoms. Enhancing academic resilience and self-efficacy may help mitigate the negative impact of ADHD symptoms on college retention.

Introduction Promoting mental health during adolescence is an essential health education objective and a crucial time for the formation of healthy mindset and behaviors. During this period, individuals are more likely to engage in health risk behaviors that can contribute to mental health problems that manifest in later adulthood. It has been demonstrated that optimal psychological health and the quality and application of students’ emotional and social skills may prevent and reduce the onset of risky health behaviors, such as subtance abuse. Students with specific learning difficulty (SpLD) are at higher risk to develop problem behaviors and they require special attention for promoting their mental health. Objectives The aim of the present study is to investigate mental health and well-being, and health behaviors as well as substance use in a sample of adolescents including those with SpLD, using the SDQ ‘Strenghts and Difficulties Questionnaire’, a widely utilized instrument for the multidimensional assessment of mental health in children and adolescents. Methods Our study included 276 school-aged children (mean age: 13.57 years; SD: 1.81; boys: 54.7%), 143 of whom had SpLD. We utilized a self-administered, anonymous questionnaire that included the Adolescent Psychological Well-Being Questionnaire, the Life Satisfaction Scale, and the WHO Well-Being Questionnaire. Peer support, individual internal psychological resources, and health risk behaviors were also assessed. Results The statistical analyses revealed a number of noteworthy differences. First, the SDQ scores of smoking and drinking adolescents were substantially different from those of their peers on the dimensions of emotional symptoms, conduct problems, and hyperactivity in the case of smoking (p

Introduction Rejection-sensitivity is a prevalent yet understudied emotional symptom often associated with adult ADHD. While ADHD research typically focuses on behavioral and cognitive facets, emerging evidence highlights the significance of emotional symptoms. Emotional dysregulation in ADHD impacts psychological well-being and mental health. Our study examines how ADHD symptoms relate to rejection sensitivity, considering factors like resiliency, self-regulation, and overall well-being. Objectives Our study seeks to establish a direct connection between ADHD scores and rejection sensitivity among college students. We also investigate the mediating role of well-being, creative executive efficiency, self-regulation, and resilience, while exploring the moderating role of savoring capacity. Methods Between February and May of 2023, we conducted a cross-sectional study using an online questionnaire, gathering data from 304 Hungarian higher education students aged 18 to 35. The majority, 78.0%, were female, and 71.4% were full-time students. Most participants were pursuing a bachelor’s degree (56.6%), followed by undivided master’s (21.7%), doctoral studies (13.8%), and traditional master’s degrees (6.9%). We administered the Adult ADHD Self-Report Scale (ASRS-v.1.1), The Mental Health Test (MHT), and the Rejection Sensitivity Questionnaire (A-RSQ) for our research. Results First, the ADHD scores were significantly associated with each mediator (well-being: β = -.343, p < .001; creative and executive efficiency: β = -.183, p < .01; self-regulation (β = -.230, p < .001; and resilience: β = -.321, p < .001). There was a direct effect of ADHD scores on rejection sensitivity scores (β = .466, p < .001). Finally, we also detected the indirect effects of ADHD scores on rejection sensitivity scores through the four mediators (β = .227, p < .001). Savoring capacity significantly moderated the relationship between ADHD and rejection sensitivity scores (β = -.244, p < .001). Conclusions ADHD scores in our study population significantly correlate with well-being, creative and executive efficiency, self-regulation, and resilience. Furthermore, these scores directly influence rejection sensitivity, suggesting a heightened vulnerability to perceived rejection among those with higher ADHD scores. The indirect effects emphasize that the relationship between ADHD and rejection sensitivity is mediated by the aforementioned positive psychological constructs. This underscores the need for holistic interventions in ADHD populations, addressing not just core ADHD symptoms but also enhancing well-being, cognitive efficiency, self-regulation, and resilience to potentially mitigate rejection sensitivity. Disclosure of Interest V. Müller Grant / Research support from: This project received funding from the New National Excellence Program under the Ministry for Culture and Innovation, sourced from the National Research, Development, and Innovation Fund, reference #ÚNKP-23-3-SZTE-66., B. Pikó: None Declared

Introduction Hematological diseases represent a diverse disease group ranging from benign to life-threatening conditions, with hematological malignancies being a major cause of mortality in the population worldwide. Although most hematological diseases require ongoing medical care making these conditions even more difficult for patients to endure. Since these diseases can pose many challenges by causing symptoms and limitations in various aspects of daily life, health-related quality of life (HRQoL) is a crucial aspect of their healthcare. Different dimensions of health-related quality of life are influenced by several psychological factors, including illness perception, stigmatization, and optimism: a more positive illness perception, along with optimism and reduced stigmatization, can contribute to a better HRQoL among hematology patients. Objectives Since hematological diseases often cause serious life changes, the current study aimed to explore the direct and indirect effects of illness perception on health-related quality of life among hematology patients in Hungary, including stigmatization and optimism as possible contributors. Methods In this cross-sectional study, 96 hematology patients (mean age = 56.45 years; SD = 15.55 years; 43.8% female) completed a self-administered survey including the following instruments: EORTC Quality of Life Scale, Brief Illness Perception Questionnaire, Stigma Scale for Chronic Illness, Revised Life Orientation Test. Results By creating two pathway models, illness perception had significant indirect effects on physical functioning (β = -.205, p

Introduction The role of spirituality in health and disease is a complex and emerging area of research. Incorporating spirituality into the bio-psycho-social model of health and disease leading to the bio-psycho-social-spiritual model provides a more comprehensive framework. In this context, chronic disorders like primary Sjögren’s syndrome (pSS) are of interest due to their intricate interactions between biological, psychological, and spiritual factors. Objectives To study possible relationships between spirituality, immune parameters, and disease activity in pSS patients. Methods Patient recruitment for the study took place at the Autoimmune Sjögren specialty clinic, University of Debrecen, resulting in 112 patients. Assessing spirituality of the patients happened through 4 direct questions and the Sprituality Transcendence Scale (24 items). Besides, clinical data of the patients were involved in the study including blood cell counts, rheumatoid factor, immunoglobulin G, Sjögren-specific autoantibodies and disease activity scores (semi-objective and patient reported,). The statistical analysis was conducted applying group comparisons between spiritual and non-spiritual groups, and linear and logistic regression analyses adjusted for sex, age, disease duration, settlement type, education, living in partnership and smoking. Out of the 112 patients 4 gave incomplete response, and therefore got excluded from the analysis, resulting in a total sample size of 108. Results Semi-objective disease activity score (ESSDAI) and perceived vaginal dryness was significantly lower in the non-spiritual group. Spirituality was proven as a significant predictor of anti-SSB autoantibody serum activity and ESSDAI, while engaging in prayer/meditation and its duration predicted significantly anti-SSA autoantibody serum activity, perceived skin and tracheal dryness. Concerning logistic regression analysis, we found that an increase of one unit in spirituality reduces the probability with 81.6% of having a detectable, semi-objective disease activity at all. Significant associations were found between the duration of prayer/meditation and both semi-objective and patient reported disease activity scores and autoantibody anti-SSB with an inverse ratio based on logistic regression model. Conclusions Spirituality is associated with immune parameters and disease activity in pSS. Patients with spiritual attitude are less likely to have increased disease activity. Besides being spiritual, engagement in individual spiritual activities, such as prayer/meditation has beneficial disease modifying effect. These changes are supposedly due to psychoneuroimmunological pathways. In addition to the biologically measurable variables, the alleviation and aggravation of perceived symptoms (e.g. dryness) are important outcomes of spiritual engagement and practice. Disclosure of Interest None Declared

Polymorphisms in the cholesteryl ester transfer protein (CETP) gene are known to be strongly associated with increased cardiovascular risk, primarily through their effects on the lipid profile and consequently on atherosclerotic risk. The acute heart rate response (AHRR) to physical activity is closely related to individual cardiovascular health. This study aimed to investigate the effect of CETP gene polymorphisms on AHRR. Our analysis examines the association of five single nucleotide polymorphisms (SNPs; rs1532624, rs5882, rs708272, rs7499892, and rs9989419) and their haplotypes (H) in the CETP gene with AHRR in 607 people from the Hungarian population. Individual AHRR in the present study was assessed using the YMCA 3-min step test and was estimated as the difference between resting and post-exercise heart rate, i.e., delta heart rate (ΔHR). To exclude the direct confounding effect of the CETP gene on the lipid profile, adjustments for TG and HDL-C levels, next to conventional risk factors, were applied in the statistical analyses. Among the examined five SNPs, two showed a significant association with lower ΔHR (rs1532624—Cdominant: B = −8.41, p < 0.001; rs708272—Gdominant: B = −8.33, p < 0.001) and reduced the risk of adverse AHRR (rs1532624—Cdominant: OR = 0.44, p = 0.004; rs708272—Gdominant: OR = 0.43, p = 0.003). Among the ten haplotypes, two showed significant association with lower ΔHR (H3—CAGCA: B = −6.81, p = 0.003; H9—CGGCG: B = −14.64, p = 0.015) and lower risk of adverse AHRR (H3—CAGCA: OR = 0.58, p = 0.040; H9—CGGCG: OR = 0.05, p = 0.009) compared to the reference haplotype (H1—AGACG). Our study is the first to report a significant association between CETP gene polymorphisms and AHRR. It also confirms that the association of the CETP gene with cardiovascular risk is mediated by changes in heart rate in response to physical activity, in addition to its effect on lipid profile.

Distal arthrogryposis (DA) is a skeletal muscle disorder that is characterized by the presence of joint contractures in various parts of the body, particularly in the distal extremities. In this study, after a systematic review of the literature, we present a case report of a non-consanguineous family. In our case, the first-trimester ultrasound was negative, and the presence of the affected mother was not enough for the parents to consent to us performing invasive amniotic fluid sampling. The second-trimester ultrasound showed clear abnormalities suggestive of arthrogryposis. Whole-exome sequencing was performed and an autosomal dominantly inherited disease-associated gene was identified. In our case, a pathogenic variant in the TNNT3 gene c.188G>A, p.Arg63His variant was identified. The mother, who had bilateral clubfoot and hand involvement in childhood, carried the same variant. The TNNT3 gene is associated with distal arthrogryposis type 2B2, which is characterized by congenital contractures of the distal limb joints and facial dysmorphism. In the ultrasound, prominent clubfoot was identified, and the mother, who also carried the same mutation, had undergone surgeries to correct the clubfoot, but facial dysmorphism was not detected. Our study highlights the importance of proper genetic counseling, especially in an affected parent(s), and close follow-up during pregnancy.

Abstract Background Medical students are at high risk for sleep disturbance. One possible cause of their sleeping problem is impulsivity. We aim to investigate the possible mediators between medical students’ impulsivity and sleep outcomes. Thus, we developed and investigated a model where the predictors were attentional, non-planning, and motor impulsivity subtraits. In the final model, subjective cognitive capacity decrease was the outcome variable. In light of previous findings, academic procrastination, smartphone addiction, and bedtime procrastination were considered important mediators as well as two variables of poor sleep, sleeping insufficiency, and daytime fatigue. Methods Medical students (N = 211; ageM = 22.15 years; ageSD = 3.47 years; 71.6% women) were recruited to complete an online survey comprised of demographics (age, gender), self-administered scales (Abbreviated Impulsiveness Scale, Bedtime Procrastination Scale, Abbreviated Impulsiveness Scale, Academic Procrastination Scale-Short Form) and questions on tiredness, daily fatigue and subjective cognitive capacity decrease. Correlation and path analyses were implemented to examine hypothesized relationships between the variables. Results Both attentional impulsivity (β = 0.33, p

Post-industrial cities often find themselves at a crossroads as to whether to find a new identity or embrace their industrial past. In late 2017, after the closure of major manufacturing plants in the region, the Australian city of Geelong was designated a UNESCO City of Design and embraced a “Clever and Creative” strategy which acknowledged Geelong’s industrial and design past in responding to contemporary technological, demographic, and economic challenges. However, questions remain as to which versions of the past are valued by the local community and how these stories can be shared. To better understand the social value of design and manufacturing heritage in Geelong as well as to get initial feedback on how to interpret this type of heritage through novel immersive extended reality (XR) experiences, the researchers took a community-led approach. This paper reports on the results of the initial online community surveys (N = 55–137) and in-person stakeholder interviews (N = 5) with carefully selected representatives of the local government, education, heritage, tourism, and engineering sectors. The study’s outcome demonstrates the importance of design and manufacturing heritage for the local community’s identity. Moreover, this type of heritage provides a source of inspiration, learning opportunities for future creative problem-solvers, and economic opportunities through tourism. By engaging with the social value of design and manufacturing heritage, this paper argues that more effective and targeted storytelling, game-like applications, and other digital immersive experiences such as extended reality (XR) can be used to better engage with audiences.

The aim of this study was to apply a state-of-the-art quantitative lipidomic profiling platform to uncover lipid alterations predictive of melanoma progression. Our study included 151 melanoma patients; of these, 83 were without metastasis and 68 with metastases. Plasma samples were analyzed using a targeted Lipidyzer™ platform, covering 13 lipid classes and over 1100 lipid species. Following quality control filters, 802 lipid species were included in the subsequent analyses. Total plasma lipid contents were significantly reduced in patients with metastasis. Specifically, levels of two out of the thirteen lipid classes (free fatty acids (FFAs) and lactosylceramides (LCERs)) were significantly decreased in patients with metastasis. Three lipids (CE(12:0), FFA(24:1), and TAG47:2-FA16:1) were identified as more effective predictors of melanoma metastasis than the well-known markers LDH and S100B. Furthermore, the predictive value substantially improved upon combining the lipid markers. We observed an increase in the cumulative levels of five lysophosphatidylcholines (LPC(16:0); LPC(18:0); LPC(18:1); LPC(18:2); LPC(20:4)), each individually associated with an elevated risk of lymph node metastasis but not cutaneous or distant metastasis. Additionally, seventeen lipid molecules were linked to patient survival, four of which (CE(12:0), CE(14:0), CE(15:0), SM(14:0)) overlapped with the lipid panel predicting metastasis. This study represents the first comprehensive investigation of the plasma lipidome of melanoma patients to date. Our findings suggest that plasma lipid profiles may serve as important biomarkers for predicting clinical outcomes of melanoma patients, including the presence of metastasis, and may also serve as indicators of patient survival.

The acute heart rate response (AHRR) to physical activity, which refers to the change in heart rate during and after exercise, has been associated with cardiovascular and all-cause mortality. Previous studies have shown that AHRR is significantly determined by genetics in addition to environmental and lifestyle factors. The aim of this study was to investigate the genetic background of AHRR by analysing ten single nucleotide polymorphisms (SNPs) associated with leisure-time physical activity (LTPA) in 620 samples from the Hungarian population. The AHRR can be characterised as the difference between post-exercise and resting heart rate, i.e., the delta heart rate (ΔHR) defined by the YMCA 3 min step test, with a lower value indicating better cardiovascular fitness. The association of SNPs with ΔHR was analysed both separately and in combination using an optimised polygenic score (oPGS). The results showed that five SNPs (rs10252228, rs459465, rs6022999, rs8097348, and rs12405556) had at least nominally significant (p < 0.05) individual associations with ΔHR. After optimizing the PGS, a cumulative effect was observed for eight SNPs (rs6022999, rs12405556, rs459465, rs10252228, rs8097348, rs10887741, rs12612420, and rs7023003) that had a strong and statistically significant association with ΔHR (B = −2.51, 95% CI: −3.46–−1.76; p = 2.99 × 10−9). Of the four main domains of physical activity, the oPGS showed a significant positive association only with LTPA (B = 84.60; 95%CI: 25.23–143.98; p = 0.005). In conclusion, our results suggest that the SNPs we investigated influence individual leisure-time physical activity, mediated by their effects on the acute heart rate response.

Abstract Context Increasing diagnostic sensitivity in the detection of thyroid cancer has led to uncertainties in the optimal surgical approach of the smaller, low risk tumors. Current ATA guidelines consider lobectomy safe between 1 and 4 cm, while ETA advocates for primary total thyroidectomy to avoid reoperation, as final risk stratification is based on the histological results. Objective Our aim was to compare the differences in outcomes that are potentially achievable with adherence to the different guidelines, and also to examine the predictive value of clinical parameters on the incidence of postoperative risk factors. Methods We performed a retrospective cohort database analysis to identify the different surgical outcomes (based on postoperative risk factors) using ATA and ETA guidelines; the hypothetical rate of completion thyroidectomy when ATA or ETA recommends lobectomy; the accuracy of our preoperative evaluation; the utility of preoperative findings in predicting the optimal surgical strategy using binary logistic regression. Results Out of 248 patients, 152 (ATA) and 23 (ETA) cases would have been recommended for initial lobectomy. Following the guidelines, a postoperative risk factor would have been present in 61.8, and 65.2% of the cases, respectively. Except for angioinvasion, tumor size was not a significant predictor for the presence of postoperative risk factors. Conclusion Current pre-operative criteria are inadequate to accurately determine the extent of initial surgery and our postoperative findings verify the frequent need for completion thyroidectomy using both guidelines. As a consequence, in the absence of effective pre-operative set of criteria, we advocate primary total thyroidectomy in most cases.

Abstract Inequalities in diet quality are increasingly reported, but such studies among Roma are scarce and challenging. Here we attempt to examine diet quality and adherence to food based dietary guidelines among Hungarian Roma (HR) ethnic minority living in segregated settlements while comparing a sample of Hungarian adults from the general population (HG). Data were obtained from a complex comparative health survey conducted in Northeast Hungary in 2018, including sociodemographic and physical examination data. Dietary data were collected using two non-consecutive 24-h dietary recalls. We assessed diet quality based on using a 13-component Healthy Eating Index-2015 (HEI-2015, range 0–100). Differences in median intakes of food and nutrients and HEI-2015 scores were evaluated by Mann–Whitney test or Kruskal–Wallis test. Quantile regression was used to adjust HEI-2015 scores for socioeconomic factors including age, sex, educational status, and perceived financial status. This analysis included 393 and 415 subjects, aged between 18 to 70 years, of HR and HG populations, respectively. Results showed overall low median HEI-2015 scores for both HR and HG, with significantly lower total score among HR participants (41.6, interquartile range (IQR): 39.5–42.8) compared to HG (47.2, IQR: 45.7–51.1). Scores for individual components, such as intake of fruits, greens and beans, whole grains, seafood, and plant proteins were particularly suboptimal among both groups, but significantly lower among the HR population. Scores for refined grains, sodium, saturated fats and added sugar reflected high intakes of these components but did not differ between study groups. Our findings revealed an unfavorable diet quality among the HR compared to HG and a potentially increased risk for diet-related NCDs. Future health intervention programs are warranted to address dietary disparities of segregated minorities in Hungary while considering ethnic and cultural differences.

Abstract Background Neurodevelopmental disorders are genetically heterogeneous pediatric conditions. The first tier diagnostic method for uncovering copy number variations (CNVs), one of the most common genetic etiologies in affected individuals, is chromosomal microarray (CMA). However, this methodology is not yet a routine molecular cytogenetic test in many parts of the world, including Hungary. Here we report clinical and genetic data of the first, relatively large Hungarian cohort of patients whose genetic testing included CMA. Methods Clinical data were retrospectively collected for 78 children who were analyzed using various CMA platforms. Phenotypes of patients with disease-causing variants were compared to patients with negative results using the chi squared/Fisher exact tests. Results A total of 30 pathogenic CNVs were identified in 29 patients (37.2%). Postnatal growth delay (p = 0.05564), pectus excavatum (p = 0.07484), brain imaging abnormalities (p = 0.07848), global developmental delay (p = 0.08070) and macrocephaly (p = 0.08919) were more likely to be associated with disease-causing CNVs. Conclusion Our results allow phenotypic expansion of 14q11.2 microdeletions encompassing SUPT16H and CHD8 genes. Variants of unknown significance (n = 24) were found in 17 patients. We provide detailed phenotypic and genetic data of these individuals to facilitate future classification efforts, and spotlight two patients with potentially pathogenic alterations. Our results contribute to unraveling the diagnostic value of rare CNVs.

Neuropathy is a serious and frequent complication of type 2 diabetes (T2DM). This study was carried out to search for genetic factors associated with the development of diabetic neuropathy by whole exome sequencing. For this study, 24 patients with long-term type 2 diabetes with neuropathy and 24 without underwent detailed neurological assessment and whole exome sequencing. Cardiovascular autonomic function was evaluated by cardiovascular reflex tests. Heart rate variability was measured by the triangle index. Sensory nerve function was estimated by Neurometer and Medoc devices. Neuropathic symptoms were characterized by the neuropathy total symptom score (NTSS). Whole exome sequencing (WES) was performed on a Thermo Ion GeneStudio S5 system determining the coding sequences of approximately 32,000 genes comprising 50 million base pairs. Variants were detected by Ion Reporter software and annotated using ANNOVAR, integrating database information from dbSNP, ClinVar, gnomAD, and OMIM. Integrative genomics viewer (IGV) was used for visualization of the mapped reads. We have identified genetic variants that were significantly associated with increased (22–49-fold) risk of neuropathy (rs2032930 and rs2032931 of recQ-mediated genome instability protein 2 (RMI2) gene), rs604349 of myosin binding protein H like (MYBPHL) gene and with reduced (0.07–0.08-fold) risk (rs917778 of multivesicular body subunit 12B (MVB12B) and rs2234753 of retinoic acid X receptor alpha (RXRA) genes). The rs2032930 showed a significant correlation with current perception thresholds measured at 5 Hz and 250 Hz for n. medianus (p = 0.042 and p = 0.003, respectively) and at 5 Hz for n. peroneus (p = 0.037), as well as the deep breath test (p = 0.022) and the NTSS (p = 0.023). The rs2032931 was associated with current perception thresholds (p = 0.003 and p = 0.037, respectively), deep breath test (p = 0.022), and NTSS (p = 0.023). The rs604349 correlated with values measured at 2000 (p = 0.049), 250 (p = 0.018), and 5 Hz (p = 0.005) for n. medianus, as well as warm perception threshold measured by Medoc device (p = 0.042). The rs2234753 showed correlations with a current perception threshold measured at 2000 Hz for n. medianus (p = 0.020), deep breath test (p = 0.040), and NTSS (p = 0.003). There was a significant relationship between rs91778 and cold perception threshold (p = 0.013). In our study, genetic variants have been identified that may have an impact on the risk of neuropathy developing in type 2 diabetic patients. These results could open up new opportunities for early preventive measures and might provide targets for new drug developments in the future.

IntroductionHarmful alcohol use is a significant public health problem worldwide, though the alcohol-related burden affects disproportionately certain populations and ethnic minorities, with the WHO European Region being the most heavily affected and putting an increased risk on Roma populations. This ethnic minority group is the largest and most vulnerable ethnic minority in Europe and Hungary as well.MethodsThe present study aims to describe and compare the alcohol consumption behaviors of the Hungarian general and Roma populations using the Alcohol Use Disorders Identification Test (AUDIT), which provides a comprehensive view of alcohol consumption behavior. In addition, a decomposition analysis was performed when the multivariate logistic or Poisson regression model showed significant differences between the two samples.ResultsOur findings suggest that Roma people in our study sample experience more alcohol-related harm, even when considering past problems. The decomposition analysis revealed that gender and relationship status differences act more intensely among Roma than non-Roma when considering alcohol-related harm.DiscussionEqualizing these differences would be expected to reduce the Hungarian general and Roma populations' alcohol-related harm frequency gap. Investigating alcohol-attributed harms at the ethnicity level provides important information to identify high-risk groups and, thus, to design and implement more targeted and accessible interventions for alcohol problems.

Background: Social exclusion usually contributes to an increased vulnerability to mental health problems and risky health behaviors. This study aims to identify the role of health behavior in the increased risk of depressive symptoms among adolescents during the coronavirus pandemic in Hungary. Methods: A total of 705 high school students participated in our study (M = 15.9 years; SD = 1.19). The self-administered questionnaire included items about sociodemographics, eating habits, physical activity, sedentary behavior, and substance use. Depressive symptoms were measured using the short version of the Child Depression Inventory. Descriptive statistics and binary logistic regression were used to analyze our results. Results: Daily fruit and vegetable consumption was reported by 21.7% and 22.4% of respondents, respectively. The proportion of the respondents reporting daily sweets consumption stood at 13.2%, daily soft drinks consumption was 12.3%, and daily energy drink consumption tallied to 4.5%. More than one-third of the sample (35.5%) reported having breakfast every school day, which rose to 68.1% of the sample reporting breakfast on both weekend days. The rate of students engaged in daily physical activity was 6.5%, while 86.1% of them reported more than four hours screen time in a day. In addition, despite the mandatory confinement, a notable percentage of adolescents engaged in substance use. Consistent with previous studies, girls had a higher risk of depression. Low levels of physical activity and high levels of screen time – as well as alcohol and drug use – were associated with a high risk of depression. Conclusions: We believe our study provided useful information on adolescent health behaviors that can lead to adolescents’ depression, and that maintaining physical activity can prevent it even in these unusual circumstances.

Osteopontin (OPN) is a multifunctional glycoprotein that physiologically interacts with different types of integrins. It is considered to be a possible prognostic biomarker in certain tumor types; however, various splicing isoforms exist, which have not been investigated in melanoma. We aimed to define the relative expression pattern of five OPN isoforms and clarify the prognostic significance of the splice variants in melanoma. We also aimed to investigate the expression pattern of eight integrins in the same tumors. Gene expression analyses revealed that the relative expression of OPNa, OPNb, and OPNc is significantly higher in metastatic tumors compared to primary lesions (p < 0.01), whereas the expression of OPN4 and OPN5 was low in both. The more aggressive nodular melanomas had higher expression levels compared to the superficial spreading subtype (p ≤ 0.05). The relative expression of the eight tested integrins was low, with only the expression of ITGB3 being detectable in nodular melanoma (Medianlog2 = 1.274). A positive correlation was found between Breslow thickness and the expression of OPNc variant, whereby thicker tumors (>4 mm) had significantly higher expression (p ≤ 0.05). The Breslow thickness was negatively correlated with the expression of OPN4, and similarly with ITGA2. OPNc also exhibited significant positive correlation with the presence of metastasis. Our data show that high expression of OPNa, OPNb, and especially OPNc and low expression of OPN4 and ITGA2 are associated with an advanced stage of tumor progression and poor prognosis in melanoma.

This text is based on the recommendations accepted by the 4th Hungarian Consensus Conference on Breast Cancer, modified based on the international consultation and conference within the frames of the Central-Eastern European Academy of Oncology. The professional guideline primarily reflects the resolutions and recommendations of the current ESMO, NCCN and ABC5, as well as that of the St. Gallen Consensus Conference statements. The recommendations cover classical prognostic factors and certain multigene tests, which play an important role in therapeutic decision-making. From a didactic point of view, the text first addresses early and then locally advanced breast cancer, followed by locoregionally recurrent and metastatic breast cancer. Within these, we discuss each group according to the available therapeutic options. At the end of the recommendations, we summarize the criteria for treatment in certain rare clinical situations.

Introduction Attention Deficit Hyperactivity Disorder (ADHD) is a neurodevelopmental disorder characterized by symptoms of inattention, hyperactivity, and/or impulsivity. It is one of the most common disabilities in college populations and comorbidity with depression is frequently reported. Objectives The aim of the study is to shed light on depression as comorbidity and other intrapersonal correlates of ADHD in young adults. Methods Participants were Hungarian university students (N=420; M=24.5, SD=5.0 years). Criteria of the ADHD group were based on the Adult ADHD Self Report Scale V1.1 (ASRS-V.1.1) screening tool. The participants filled in the Beck’s Depression Inventory, the Hyperfocus Scale, Flow State Scale, Academic Persistence Scale, Satisfaction With Life Scale, General Self-Efficacy Scale, and the Connor-Davidson Resilience Scale. Results We found that in the group of students who had ADHD symptoms, depression score was significantly (p

Introduction The specific learning disorders (SpLD) are neurology based development disorders which are characterized by significant difficulties in acquiring learning skills. SpLD are often accompanied by mental health problems because of emotional and behavioral consequences of the diagnosis. While the presence of SpLD can worsen psychological well-being among school aged children, resilience factors can neutralize these harmful effects. Objectives The aim of this research is to identify protective factors promoting development of psychologial well-being and mental health in adolescents with SpLD compared to a control group of peers without this diagnosis. Methods Hungarian primary school students (N = 174; M = 13.34 years, SD = 1.14) participated in the study aged between 11 to 15 years. Of these, 23.6% students had a SpLD diagnosis. Participants completed a paper pencil-based questionnaire that included: EPOCH Psychological Well-being Questionnaires of Adolescent, WHO Well-being Index, Satisfaction With Life Scale, Multidimensional Perceived Social Support Scale, The Connor-Davidson Resilience Scale, and Self-regulation Scale. Results Psychological well-being in both groups shows positive correlation (p

The aims of this study were to adapt the Hungarian version of the Sport Commitment Questionnaire-2 and test an expanded Sport Commitment Model (SCM) with psychological variables.

Leisure-time physical activity (LTPA) is one of the modifiable lifestyle factors that play an important role in the prevention of non-communicable (especially cardiovascular) diseases. Certain genetic factors predisposing to LTPA have been previously described, but their effects and applicability on different ethnicities are unknown. Our present study aims to investigate the genetic background of LTPA using seven single nucleotide polymorphisms (SNPs) in a sample of 330 individuals from the Hungarian general (HG) and 314 from the Roma population. The LTPA in general and three intensity categories of it (vigorous, moderate, and walking) were examined as binary outcome variables. Allele frequencies were determined, individual correlations of SNPs to LTPA, in general, were determined, and an optimized polygenetic score (oPGS) was created. Our results showed that the allele frequencies of four SNPs differed significantly between the two study groups. The C allele of rs10887741 showed a significant positive correlation with LTPA in general (OR = 1.48, 95% CI: 1.12–1.97; p = 0.006). Three SNPs (rs10887741, rs6022999, and rs7023003) were identified by the process of PGS optimization, whose cumulative effect shows a strong significant positive association with LTPA in general (OR = 1.40, 95% CI: 1.16–1.70; p < 0.001). The oPGS showed a significantly lower value in the Roma population compared with the HG population (oPGSRoma: 2.19 ± SD: 0.99 vs. oPGSHG: 2.70 ± SD: 1.06; p < 0.001). In conclusion, the coexistence of genetic factors that encourage leisure-time physical activity shows a more unfavorable picture among Roma, which may indirectly contribute to their poor health status.

Background: Interactions between genetic and environmental risk factors (GxE) contribute to an increased risk of venous thromboembolism (VTE). Understanding how these factors interact provides insight for the early identification of at-risk groups within a population and creates an opportunity to apply appropriate preventive and curative measures.Objective: To estimate and compare GxE for VTE risk in the general Hungarian and Roma populations.Methods: The study was based on data extracted from a database consisting of results previously obtained from a complex health survey with three pillars (questionnaire-based, physical, and laboratory examinations) involving 406 general Hungarian and 395 Roma subjects. DNA was genotyped for rs121909567 (SERPINC1), rs1799963 (F2), rs2036914 (F11), rs2066865 (FGG), rs6025 (F5), and rs8176719 (ABO) polymorphisms. After allele frequency comparisons, the odds ratio (OR) was calculated for individual SNPs. Furthermore, genetic risk scores (weighted GRS, unweighted GRS) were computed to estimate the joint effect of the genetic factors. Multivariable linear regression analysis was applied to test the impact of GxE on VTE risk after interaction terms were created between genetic and VTE risk factors [diabetes mellitus (DM), cancer, chronic kidney diseases (CKD), coronary artery diseases (CAD), migraine, depression, obesity, total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high density lipoprotein (HDL-C), triglyceride (TG), and smoking].Results: Interestingly, the rs121909567 (SERPINC1, ATBp3 mutation) SNP was not present in the general population at all. However, the risk allele frequency was 1% among the Roma population, which might suggest a founder effect in this minority. This polymorphism multiplicatively interacted with CAD, CKD, cancer, DM, depression, migraine, and obesity. Even though interactions were not statistically significant, the trend of interaction showed the probability of an incremental VTE risk among the Roma population. The risk of VTE was 4.7 times higher (p > 0.05) for Roma subjects who had ≥3 wGRS (median value) compared with individuals having lower wGRS values but lower for the general subjects (OR = 3.1 × 10−8). Additionally, the risk of VTE was 6.6 times higher in the Roma population that had ≥3 risk alleles (median value) than in individuals with the 0–1 risk allele, and the overall risk was much higher for the Roma population (OR = 6.6; p > 0.05) than for the general Hungarian population (OR = 1.5; p > 0.05). Five positive and significant GxE interactions were identified in the Roma population. The risk of VTE was higher among depressive Roma subjects who carried the risk variant rs2036914 (β = 0.819, p = 0.02); however, this interaction was not significant for the general subjects. The joint presence of high levels of LDL-C and rs2066865 (FGG) increased the VTE risk only among Roma individuals (β = 0.389, p = 0.002). The possibility of VTE risk increment, as a result of a multiplicative interaction between rs8176719 (ABO) and cancer, was identified, which was higher for the Roma population (β = 0.370, p < 0.001) than for the general population (β = −0.042, p = 0.6). The VTE risk increased in the Roma population (β = 0.280, p = 0.001), but was higher in the general population (β = 0.423, p = 0.001) as a result of the multiplicative interaction between CAD and rs2036914 (F11). The presence of a multiplicative interaction between rs2066865 (FGG) and CAD increased the VTE risk for the Roma population (β = 0.143, p = 0.046) but not for the general population (β = −0.329, p < 0.001).Conclusions: rs121909567 (SERPINC1, ATBp3) was confirmed as a founder mutation in the Roma population. Our study revealed some evidence on the burden of the joint presence of genetic and environmental risk factors on VTE, although the finding is highly subjected to the selection and observational biases due to the very small number of VTE cases and the observational nature of the study design, respectively. As a result of higher genetic load and GxE interactions, this minority Roma population is at higher risk of VTE than the general Hungarian population. Thus, our results suggest the need for an intensive search for the rs121909567 (SERPINC1; ATBp3) founder mutation, which might be an important factor for the assessment of thrombotic disease susceptibility among the Roma population. In addition, we strongly recommend further studies among a large number of VTE cases to explore the more precise impact of genetic and environmental risk factors on VTE in the study populations.

Background: In Central, Eastern, and Southern Europe, the Roma population is the largest and the most vulnerable and disadvantaged minority. Behind their unfavorable health status, harmful health behaviors, such as unhealthy diet is also supposed to exist.Methods: In the framework of a complex health study, individuals from the Hungarian general (n = 410) and Roma populations (n = 387) were randomly selected. In the survey portion of the study, sweet, fat, salty, and bitter taste preferences were ascertained by question items measuring taste and food preferences. Preference for sweet vs. salty foods was also analyzed. Questions from the Hungarian version of the European Health Interview Survey were included, to characterize fruit and vegetable consumption and to determine the quantity of sugars added to consumed foods and beverages and the frequency of salting without tasting the food. Data were analyzed using STATA 9.0 statistical software.Results: Roma reported significantly less frequent consumption of fresh fruits (OR = 1.70, 95% CI: 1.22–2.35, p = 0.002) and vegetables (OR = 1.74, 95% CI: 1.25–2.41, p = 0.001) than the Hungarian subjects. Representatives of the Hungarian Roma population reported adding higher quantities of sugars to consumed foods and beverages (OR = 1.68, 95% CI: 1.10–2.56, p = 0.016) and preferred sweet snacks vs. salty ones (OR = 0.53 for salty snacks, 95% CI: 0.37–0.78, p = 0.001) and had higher preferences for sweet foods (OR = 1.51, 95% CI: 1.08–2.11, p = 0.015). They salted their food without tasting it more often (OR = 2.18, 95% CI: 1.64–2.88, p < 0.001). They had lower preferences for bitter tasting raw kohlrabi (OR = 0.56, 95% CI: 0.41–0.80, p = 0.001), grapefruit (OR = 0.47, 95% CI: 0.34–0.64, p < 0.001), black coffee (OR = 0.50, 95% CI: 0.34–0.73, p < 0.001), and dark chocolate (OR = 0.63, 95% CI: 0.46–0.84, p = 0.006). No significant results in terms of ethnicity were found on for fatty and salty food preference and other bitter-tasting vegetables.Conclusions: Roma diet may be linked to taste preferences predisposing to unhealthy eating habits. This assumption needs further studies on their dietary behavior. In order to design potentially effective intervention programs targeting Roma populations, it is essential to identify individual, environmental, social, cultural, and behavioral factors and as well as their complex interplay that may affect dietary intake and behaviors.

Estimating the prevalence of cardiovascular diseases (CVDs) and risk factors among the Roma population, the largest minority in Europe, and investigating the role of genetic or environmental/behavioral risk factors in CVD development are important issues in countries where they are significant minority. This study was designed to estimate the genetic susceptibility of the Hungarian Roma (HR) population to essential hypertension (EH) and compare it to that of the general (HG) population. Twenty EH associated SNPs (in AGT, FMO3, MTHFR-NPPB, NPPA, NPPA-AS1, AGTR1, ADD1, NPR3-C5orf23, NOS3, CACNB2, PLCE1, ATP2B1, GNB3, CYP1A1-ULK3, UMOD and GNAS-EDN3) were genotyped using DNA samples obtained from HR (N = 1176) and HG population (N = 1178) subjects assembled by cross-sectional studies. Allele frequencies and genetic risk scores (unweighted and weighted genetic risk scores (GRS and wGRS, respectively) were calculated for the study groups and compared to examine the joint effects of the SNPs. The susceptibility alleles were more frequent in the HG population, and both GRS and wGRS were found to be higher in the HG population than in the HR population (GRS: 18.98 ± 3.05 vs. 18.25 ± 2.97, p

Data obtained by genotyping single nucleotide polymorphisms (SNPs) related to high-density lipoprotein cholesterol (HDL-C) levels were utilized in Genetic Risk Score [unweighted (GRS) and weighted (wGRS)] computation on Hungarian general and Roma populations. The selection process of the SNPs as well as the results obtained are published in our research article (Piko et al., 2017) [1]. Linkage analyses were performed by study groups. Study populations were stratified by quintiles of weighted Genetic Risk Score. Multivariate linear regression analyses were performed using Genetic Risk Scores and HDL-C levels as dependent variables; and ethnicity, sex and age as independent variables. The study subjects were categorized into quintiles according their wGRS values. Associations of Genetic Risk Scores with plasma HDL-C levels (as a continuous variable) were observed in both populations. Finally, the two populations were merged and analyzed together by multivariate logistic regression where reduced plasma HDL-C level was the dependent variable; while ethnicity, age and sex were the independent ones.

Obesity is an increasing public health concern both in the developed and developing countries. Previous studies have demonstrated that considerable alterations in lipid metabolism and consequently marked changes in lipid profile are associated with the onset and progression of obesity-related complications. To characterize the full spectrum of obesity-induced changes in lipid metabolism, direct infusion tandem mass spectrometry analysis is the most promising approach. To better understand which of the many lipid species are the most strongly associated with obesity, the aim of our work was to measure and profile plasma lipids in normal (n = 57), overweight (n = 31), and obese (n = 48) individuals randomly selected from samples of Hungarian general and Roma populations by using the targeted quantitative lipidomics platform, the Lipidyzer. Principal component and stepwise regression analyses were used to identify the most significant clusters and species of lipids by increasing body mass index (BMI). From the 18 clusters identified four key lipid species (PE P-16:0/20:3, TG 20:4_33:1, TG 22:6_36:4, TG 18:3_33:0) showed a strong significant positive and three others (Hex-Cer 18:1;O2/22:0, LPC 18:2, PC 18:1_18:1) significant negative association with BMI. Compared to individual lipid species alone, the lipid species ratio (LSR) we introduced showed an extremely strong, at least 9 orders of magnitude stronger, association with BMI. The LSR can be used as a sensitive and predictive indicator to monitor obesity-related alterations in human plasma and control the effectiveness of treatment of obesity associated non-communicable diseases.

Marie Darrieussecq, a contemporary French writer, had been accused of plagiarism several times during her career. Besides defending her reputation, these accusations forced her to think about her conceptions on fiction and writing. Finally, in Rapport de police, she succeeded in showing a mirror to the society of contemporary French writers, in which a tendency towards denying the legitimacy of fiction in certain cases can be observed. This phenomenon is diagnosed by Tiphaine Samoyault as the extension of the domain of plagiarism on simple particles of life. Behind this tendency resurges the old controversy of Plato and Aristotle on mimesis and fiction. Along with Jean-Marie Schaeffer’s analysis on the function of fiction from a cognitive point of view unfolds an apology for lecture and for a fictional writing that is capable of saying the inexpressible and speak for those who don’t have access to language.