Young Adults Research Articles

Effect of acute intranasal insulin administration on muscle sympathetic nerve activity in healthy young adults.

Systemic insulin increases muscle sympathetic nerve activity (MSNA) via both central actions within the brainstem and peripheral activation of the arterial baroreflex. Augmented MSNA during hyperinsulinemia likely restrains peripheral vasodilation and contributes to the maintenance of blood pressure (BP). However, in the absence of insulin action within the peripheral vasculature, whether central insulin stimulation increases MSNA and influences peripheral hemodynamics in humans remains unknown. Herein, we hypothesized intranasal insulin administration would increase MSNA and BP in healthy young adults. Participants were assigned to time control [(TC), n=13 (5F/8M), 28±1 yrs] or 160 IU of intranasal insulin administered over five min [n=15 (5F/10M), 26±2 yrs]; five (1F/4M) participants completed both conditions. MSNA (fibular microneurography), BP (finger photoplethysmography), and leg blood flow (LBF, femoral Doppler ultrasound) were assessed at baseline, 15, and 30 minutes following insulin administration. Leg vascular conductance (LVC = [LBF ÷ mean BP] x 100) was calculated. Venous insulin and glucose concentrations remained unchanged throughout (p>0.05). Following intranasal insulin administration, MSNA (burst frequency; baseline = 100%; minute 15: 121±8%; minute 30: 118±6%; p=0.009, n=7) and mean BP (baseline = 100%; minute 15: 103±1%; minute 30: 102±1%; p=0.003) increased, while LVC decreased (baseline = 100%; minute 15: 93±3%; minute 30: 99±3%; p=0.03). In contrast, MSNA, mean BP, and LVC were unchanged in TC participants (p>0.05). We provide the first evidence that intranasal insulin administration in healthy young adults acutely increases MSNA and BP and decreases LVC. These results enhance mechanistic understanding of the sympathetic and peripheral hemodynamic response to insulin.

Fertility preservation before cancer treatment: the dilemma of saying 'no' as the price of glory.

A great deal of work has been carried out by professionals in reproductive medicine in order to raise awareness about fertility preservation (FP) techniques, particularly for women, and to ensure that FP is included in the care of young adults treated for cancer or a pathology requiring gonadotoxic treatment. If the importance of the development of our discipline is obvious, our militancy in favour of FP and our emotional projections must not make us forget that medical thinking must be carried out not only on a case-by-case basis, weighing up the benefit-risk balance, but also without losing sight that conceiving a child with one's own gametes is not a vital issue. The cultural importance given to the genetic link with offspring may bias patients' and physicians' decisions, while other ways of achieving parenthood exist, and are often more effective. Systematic information should be provided on the existence of FP techniques, but this should not lead to their systematic implementation, nor should it obscure that early information will also allow patients to begin projecting themselves in alternative options to become parents.

Percent duration of heart rate acceleration within the respiratory cycle: A novel approach to assess heart rate asymmetry.

Accelerations and decelerations of heart rate are nonsymmetrical in the magnitude and number of beat-to-beat changes.The asymmetric features of heart rate variability are related to respiratory durations. To explore the link between respiration and heart rate asymmetry (HRA), we evaluated 14 seated, healthy young adults who breathed with nine combinations of inspiration duration (TI) and expiration duration (TE), chosen respectively from 2, 4, and 6 seconds. A 5-minute R-R interval (RRI) time series was obtained from each study period to construct an averaged pattern waveform relative to the respiratory cycle. We observed that the time interval between inspiration onset and RRI minimum progressively lengthened as TI and TE increased. The time interval between expiration onset and RRI maximum also lengthen when TE increased, but shortened when TI increased. Consequently, TI and TE had different effects on the acceleration time (AT; from RRI maximum to RRI minimum) and deceleration time (DT; from RRI minimum to RRI maximum). The percentage of AT within the respiratory cycle showed a strong correlation with traditional Guzik's (r = 0.862, P < 0.001) and Porta's (r = 0.878, P < 0.001) indexes of HRA assessed in a Poincaré plot analysis. These findings suggest that, in addition to considering the magnitude and number of beat-to-beat changes, HRA can also be assessed based on another aspect: the duration of consecutive changes. The stepwise link between the duration of heart rate change and respiratory duration provides insight into the mechanisms connecting respiration to HRA.

P.028 Exploring young adult stroke patients’ lived experience, healthy lifestyle habits, and recommendations for designing innovative brain care-related initiatives

Background: Over the past decade, worldwide stroke incidence has been increasing among young adults (≤65years), which has implications during the most dynamic period of their life. There is a dearth of research exploring young adults stroke patients’ experiences, healthy lifestyle habits, preferences, and recommendations for brain care-related initiatives. The study aimed to gain knowledge and a deeper understanding of young adult stroke patients’ experiences, lifestyle habits, and support needs for brain care-related education and interventions. Methods: A descriptive qualitative study was used. Participants who took part in the quantitative phase of a larger mixed methods study (n=103 that expressed an interest in the qualitative phase, were invited to take part in semi-structured focus groups. Simultaneous data collection and analysis are being conducted. Data are being analyzed using inductive thematic analysis outlined by Braun and Clarke (2006). Results: Findings will be available by May 20, 2024. Conclusions: Study findings will be essential to 1) mobilize an understanding of young adult stroke patients’ lived experience; 2) reconceptualize the current model of stroke care and services that is traditionally geared towards older adults; and 3) inform the development of brain care-related education and interventions to meet the unique needs, priorities, and preferences of young adult stroke patients.

P.027 KNOW BRAIN EMBRACE CARE: A study investigating young adult stroke patients’ knowledge and behaviour around lifestyle

Background: Stroke incidence is rising among younger adults (≤65yrs). Modifiable and behavioural risk factors are linked to stroke; however, limited understanding of knowledge and behaviour exists around preventative/lifestyle medicine (LSM) among this patient population. Study aim was to assess younger adult stroke patients’ lifestyle knowledge, habits, and barriers. Methods: A cross-sectional design was employed. Data were collected through an online, self-reported survey following a routine stroke prevention clinic visit and analyzed using descriptive and inferential statistics. Results: Sample included 103 participants (56.3% women, 60% white, mean age 47.6, 54.5% prior stroke). Majority (63%) understood current healthy lifestyle recommendations around blood pressure, sleep, and alcohol use, but fewer (&lt;24.3%) around exercise and diet. Almost 70% ate processed food weekly, with emotions and social/family situations influencing eating habits. Interestingly, despite not understanding the current recommendations, &gt;80% exercised moderately (3.5d/wk) with work and family responsibilities as main barriers. Over 50% slept &lt;7hrs/night, had moderate to high stress levels, and implemented different coping strategies (food, TV, video games, and exercise). Majority (82.4%) reported willingness to change habits. Conclusions: Our findings provide valuable insight on young adult stroke patients’ preventative/LSM-related knowledge, habits, and barriers and provide new opportunities for the development of brain care-related initiatives.

An examination of younger and older adults' age preferences.

Research suggests that how people feel about aging can contribute to their later physical, cognitive, and mental health. In two studies, we examined younger (ages 18-30) and older adults' (ages 61-70) views about aging by asking them to rate the extent to which they would find it desirable to be various ages between 0 and 120. Participants also indicated both their ideal age (the age at which they would most like to be) and their subjective age (how old they generally feel). Consistent with the previous studies, younger adults' ideal age was significantly younger than older adults' ideal age. Younger adults' subjective age was slightly older than their chronological age, whereas older adults' subjective age was slightly younger than their chronological age. Of interest was the finding that, for older adults, their desirability ratings of various ages gradually decreased after age 35. In contrast, younger adults' desirability ratings decreased precipitously after age 20 and remained low from age 45 through age 90. Results suggest that older adults view middle to later life in a more nuanced manner than younger adults, who viewed middle and later life as being undesirable and homogenous. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Improving associative memory in younger and older adults with unitization: evidence from meta-analysis and behavioral studies

IntroductionThe finding that familiarity can support associative memory by unitizing the to -be-learned items into a novel representation has been widely accepted, but its effects on overall performance of associative memory and recollection are still controversial.MethodsThe current study aims to elucidate these discrepancies by identifying potential moderating factors through a combined approach of meta-analysis and behavioral experiment.ResultsResults consistently showed that changes in the level of unitization and age groups were two important moderators. Specifically, unitization enhanced younger and older adults’ associative memory and its supporting processes (i.e., familiarity and recollection) when the level of unitization between studied and rearranged pairs was changed. However, when this level remained constant, unitization exhibited no impact on associative memory and familiarity in younger adults, but showed an enhanced effect in older adults. Furthermore, results revealed a marked group difference between younger and older adults in associative memory when the unitization level of noncompound words remained unaltered. Upon breaking this condition, the group difference was reduced by enhancing familiarity or recollection.DiscussionThese findings not only clarify some of the inconsistencies in the literature concerning the impact of unitization on associative memory, but also suggest that unitization is a beneficial strategy for reducing group difference in associative memory, with its effectiveness varying according to the level of unitization changes.

Navigating modernity: young adults’ perspective on urban transformation in three Lima neighbourhoods

ABSTRACT This article delves into young adults’ perceptions in Lima regarding urban modernization and its relationship with architectural styles and facades. Through semi-structured interviews and visual aids, the study examines how young adults perceive modernity in their urban environment and the discrepancies between their interpretations and conventional notions promoted by developers. Findings reveal a divergence between the envisioned improvements by modernists and the scepticism expressed by young adults, raising questions about the essence of modernization and its implications for Lima. The study underscores the importance of reconciling these discrepancies to ensure urban development aligns with the aspirations of Lima’s residents.

Embodied cognition comes of age: A processing advantage for action words is modulated by aging and the task.

Processing action words (e.g., fork, throw) engages neurocognitive motor representations, consistent with embodied cognition principles. Despite age-related neurocognitive changes that could affect action words, and a rapidly aging population, the impact of healthy aging on action-word processing is poorly understood. Previous research suggests that in lexical tasks demanding semantic access, such as picture naming, higher motor-relatedness can enhance performance (e.g., fork vs. pier)-particularly in older adults, perhaps due to the age-related relative sparing of motor-semantic circuitry, which can support action words. However, motor-relatedness was recently found to affect performance in younger but not older adults in lexical decision. We hypothesized this was due to decreased semantic access in this task, especially in older adults. Here we tested effects of motor-relatedness on 2,174 words in younger and older adults not only in lexical decision but also in reading aloud, in which semantic access is minimal. Mixed-effects regression, controlling for phonological, lexical, and semantic variables, yielded results consistent with our predictions. In lexical decision, younger adults were faster and more accurate at words with higher-motor relatedness, whereas older adults showed no motor-relatedness effects. In reading aloud, neither age group showed such effects. Multiple sensitivity analyses demonstrated that the patterns were robust. Altogether, whereas previous research indicates that in lexical tasks demanding semantic access, higher motor-relatedness can enhance performance, especially in older adults, evidence now suggests that such effects are attenuated with decreased semantic access, which in turn depends on the task as well as aging itself. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Computational analysis of value learning and value-driven detection of neutral faces by young and older adults

The rapid detection of neutral faces with emotional value plays an important role in social relationships for both young and older adults. Recent psychological studies have indicated that young adults show efficient value learning for neutral faces and the detection of “value-associated faces,” while older adults show slightly different patterns of value learning and value-based detection of neutral faces. However, the mechanisms underlying these processes remain unknown. To investigate this, we applied hierarchical reinforcement learning and diffusion models to a value learning task and value-driven detection task that involved neutral faces; the tasks were completed by young and older adults. The results for the learning task suggested that the sensitivity of learning feedback might decrease with age. In the detection task, the younger adults accumulated information more efficiently than the older adults, and the perceptual time leading to motion onset was shorter in the younger adults. In younger adults only, the reward sensitivity during associative learning might enhance the accumulation of information during a visual search for neutral faces in a rewarded task. These results provide insight into the processing linked to efficient detection of faces associated with emotional values, and the age-related changes therein.

Aging impairs reactive attentional control but not proactive distractor inhibition.

Older adults tend to be more prone to distraction compared with young adults, and this age-related deficit has been attributed to a deficiency in inhibitory processing. However, recent findings challenge the notion that aging leads to global impairments in inhibition. To reconcile these mixed findings, we investigated how aging modulates multiple mechanisms of attentional control by tracking the timing and direction of eye movements. When engaged in feature-search mode and proactive distractor suppression, older adults made fewer first fixations to the target but inhibited the task-irrelevant salient distractor as effectively as did young adults. However, when engaged in singleton-search mode and required to reactively disengage from the distractor, older adults made significantly more first saccades toward the task-irrelevant salient distractor and showed increased fixation times in orienting to the target, longer dwell times on incorrect saccades, and increased saccadic reaction times compared with young adults. Our findings reveal that aging differently impairs attentional control depending on whether visual search requires proactive distractor suppression or reactive distractor disengagement. Furthermore, our oculomotor measures reveal both age-related deficits and age equivalence in various mechanisms of attention, including goal-directed orienting, selection history, disengagement, and distractor inhibition. These findings help explain why conclusions of age-related declines or age equivalence in mechanisms of attentional control are task specific and reveal that older adults do not exhibit global impairments in mechanisms of inhibition. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Melanoma in Pediatric and Young Adult Patients.

Melanoma in younger individuals has different clinical presentations, histologic characteristics and prognosis from older patients. This review summarizes key differences and important new insights into pediatric and young adult melanoma, as well as recent evolutions in treatment. Molecular techniques have improved the classification of melanocytic neoplasms, and are especially useful in the workup of the diagnostically challenging lesions frequent in this age group. Molecular evaluation highlights differences between melanoma and atypical lesions with Spitz-like morphology, and should routinely be incorporated for diagnosing and classifying Spitzoid melanocytic to guide prognostication and treatment. Once diagnosed, the management of bona fide melanoma in children and young adults is largely similar to older patients, while the optimal management of lesions such as atypical Spitz tumors remains uncertain. Increased awareness of the presentation and diagnostic characteristics of melanoma in young individuals will allow earlier detection, and improved diagnostic techniques will allow optimum management without over- or under-treatment.

Latent transition analysis of time-varying cannabis use motives to inform adaptive interventions.

The rising prevalence of daily cannabis use among older adolescents and young adults in the United States has significant public health implications. As a result, more individuals may be seeking or in need of treatment for adverse outcomes (e.g., cannabis use disorder) arising from excessive cannabis use. Our objective was to explore the potential of self-reported motives for cannabis use as a foundation for developing adaptive interventions tailored to reduce cannabis consumption over time or in certain circumstances. We aimed to understand how transitions in these motives, which can be collected with varying frequencies (yearly, monthly, daily), predict the frequency and adverse outcomes of cannabis use. We conducted secondary analyses on data collected at different frequencies from four studies: the Medical Cannabis Certification Cohort Study (n = 801, biannually), the Cannabis, Health, and Young Adults Project (n = 359, annually), the Monitoring the Future Panel Study (n = 7,851, biennially), and the Text Messaging Study (n = 87, daily). These studies collected time-varying motives for cannabis use and distal measures of cannabis use from adolescents, young adults, and adults. We applied latent transition analysis with random intercepts to analyze the data. We identified the types of transitions in latent motive classes that are predictive of adverse outcomes in the future, specifically transitions into or staying in classes characterized by multiple motives. The identification of such transitions has direct implications for the development of adaptive interventions designed to prevent adverse health outcomes related to cannabis use. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

#2255 Impact and interest of using the EKFC formula instead of CKD-EPI in estimating GFR in the laboratory on clinical practice

Abstract Background and Aims Early diagnosing Chronic Kidney Disease (CKD) is of major importance in daily practice, and the automatic reporting of the estimated glomerular filtration rate (eGFR) for all plasma creatinine (Pcr) determinations is mandatory. The CKD-EPI 2009 formula [1] is considered the most accurate creatinine-based GFR estimating formula in adults in Europe and is currently utilized by laboratories. However, CKD-EPI equation is inadequate in young adults &amp;lt; 25 years and CKD-EPI equation is debated in the elderly over 75 years, with the BIS1 equation [2] showing better performance in this age group. The creatinine-based European Kidney Function Consortium (EKFC) equation [3] provides continuous GFR estimation from 2 years to adulthood and the elderly, presenting itself as a potential alternative to both the CKD-EPI and BIS1 equations. Our objective was to assess the impact of using the EKFC equation (and/or BIS1 in the elderly) compared to CKD-EPI in daily practice in identifying patients with a GFR &amp;lt; 60 or &amp;lt; 30 ml/min/1.73 m2, which represents the threshold for referring to a nephrologist and adjusting drug dosage, respectively. Method We retrieved data from the laboratory database, including gender, age, and the lowest measurement of Pcr for all patients over 18 years who underwent Pcr determination in November 2023. eGFR was calculated for all patients using the CKD-EPI and the EKFC equation. For patients over 70 years, eGFR was also estimated with the BIS1 equation. Pcr was assessed using an enzymatic method traceable to IDMS (Architect c®, Abbott Diagnostics). Results were expressed as the mean bias between EKFC and BIS1, and CKD-EPI (considered as the reference) according to age groups, and as the number of patients misclassified as &amp;lt; 60 or &amp;lt; 30 ml/min/1.73 m2. Results 10 066 patients (50.5% females, mean age 56.0 ± 21.2 years [18.0-106.7]) underwent Pcr determination (mean 84.7 ± 72.3 µmol/L) with 1 706 (16.9%) and 405 (4.0%) having a GFR &amp;lt; 60 or &amp;lt; 30 ml/min/1.73 m2, respectively. EKFC and BIS underestimated CKD-EPI eGFR in all groups, but especially in the groups of young adults and the elderly. However, the number of misclassified patients is small, except in the elderly when CKD-EPI is considered less accurate. Conclusion The use of EKFC in laboratories to estimate eGFR offers continuous GFR estimation from 2 years to adulthood and elderly and could be an alternative to both CKD-EPI and BIS1. The automatic reporting of eGFR with EKFC by laboratories in Europe could allow for an earlier diagnosis of CKD and initiation of nephroprotection in young adults, in addition to providing better nephrological care for the elderly.

Multiple factor assessment for determining resting metabolic rate in young adults

Existing formulas cannot fully explain the variation of resting metabolic rate (RMR). This study aims to examine potential influencing factors beyond anthropometric measurements and develop more accurate equations using accessible parameters. 324 healthy adults (230 females; 18–32 years old) participated in the study. Height, fat-free mass (FFM), fat mass (FM) and RMR were measured. Menstrual cycle, stress levels, living habits, and frequency of consuming caffeinated foods were collected. Measured RMR were compared with predictive values of the new equations and previous 11 equations. Mean RMR for men and women was 1825.2 ± 248.8 and 1345.1 ± 178.7 kcal/day, respectively. RMR adjusted for FFM0.66FM0.066 was positively correlated with BMI. The multiple regression model showed that RMR can be predicted in this population with model 1 (with FFM, FM, age, sex and daily sun exposure duration) or model 2 (with weight and height replacing FFM and FM). The accuracy was 75.31% in the population for predictive model 1 and 70.68% for predictive model 2. The new equations had overall improved performance when compared with existing equations. The predictive formula that consider daily sun exposure duration improve RMR prediction in young adults. Additional investigation is required among individuals in the middle-aged and elderly demographic.

Factors Impacting ART Adherence among HIV-Positive Older Adolescents and Younger Adults in Namibia: A Qualitative Analysis

Background Namibia, like many sub-Saharan African countries, faces the challenges of Human Immunodeficiency Virus (HIV) and Acquired Immunodeficiency Syndrome (AIDS) affecting diverse age groups. However, the demographic group of older adolescents and younger adults, specifically those aged 15-24, faces distinct challenges in terms of psychological, sociocultural, and healthcare-related factors that impact their adherence to Antiretroviral Treatment (ART). It is important to conduct further research to investigate these specific challenges and address them effectively. Aim This paper aimed to investigate factors impacting adherence to ART medication among Older Adolescents (OA) and Younger Adults Living with HIV (YALHIV) in the seven high-burden regions in Namibia. Objective The objective of this study was to explore and describe the factors that influence adherence to ART medication among older adolescents and younger adults living with HIV to provide valuable insights to inform the development of evidence-based HIV programs that can effectively address the adherence challenges in this particular population. Methods A qualitative descriptive phenomenology research design was followed, utilising an in-depth interview to capture the experiences of older adolescents and younger adults living with HIV. Participants were recruited from healthcare facilities across Namibia, ensuring a diverse sample in terms of gender, socio-economic status, and urban-rural representation. A purposive sampling technique was employed to select 29 participants who were willing to take part in the study and data saturation was achieved with this sample size. The interviews were telephonically recorded with the permission of the participants. The researcher used Colaizzi's six steps for phenomenological study to analyze the data. Results The study reveals four main themes that contribute to adherence issues in OALHIV and YALHIV and include patients-related factors, family-related factors, facility and healthcare providers-related factors, and community and socio-cultural characteristics-related factors. Conclusion The study sheds light on factors affecting adherence to ART among OALHIV and YALHIV. It emphasizes the necessity of comprehensive interventions addressing personal, sociocultural, economic, and healthcare challenges for their well-being. Future research and policies should focus on tailored interventions based on these diverse findings.

Tactile memory impairments in younger and older adults

Human tactile memory allows us to remember and retrieve the multitude of somatosensory experiences we undergo in everyday life. An unsolved question is how tactile memory mechanisms change with increasing age. We here use the ability to remember fine-grained tactile patterns passively presented to the fingertip to investigate age-related changes in tactile memory performance. In experiment 1, we varied the degree of similarity between one learned and several new tactile patterns to test on age-related changes in the “uniqueness” of a stored tactile memory trace. In experiment 2, we varied the degree of stimulus completeness of both known and new tactile patterns to test on age-related changes in the weighting between known and novel tactile information. Results reveal that older adults show only weak impairments in both precision and bias of tactile memories, however, they show specific deficits in reaching peak performance > 85% in both experiments. In addition, both younger and older adults show a pattern completion bias for touch, indicating a higher weighting of known compared to new information. These results allow us to develop new models on how younger and older adults store and recall tactile experiences of the past, and how this influences their everyday behavior.

Emerging therapies in Ewing sarcoma.

There is an unmet need to improve outcomes for patients for Ewing sarcoma, a rare, aggressive sarcoma with a peak incidence in adolescents and young adults (AYA). Current therapy at diagnosis involves multiagent chemotherapy and local therapy, but despite intensification of treatment, those with metastases at diagnosis and recurrent disease have poor outcomes. Improved understanding of Ewing sarcoma biology has identified novel targets with promising activity in Ewing sarcoma patients, including tyrosine kinase inhibitors that are now undergoing evaluation as combination and maintenance therapy. Other emerging therapies include those that target the EWSR1::FLI1 fusion oncoprotein, and act on DNA damage, cell cycle and apoptotic pathways. Immunotherapeutic approaches, particularly CAR-T-cell therapy directed at GD2, also hold promise. Recent collaborative clinical trials that have defined an international standard of care for patients with newly diagnosed Ewing sarcoma and novel platform studies with adaptive designs offer unique opportunities to investigate these therapies inclusive of all ages. Close international collaboration between clinicians and biologists will allow us to prioritize promising emerging therapies and develop biomarkers to facilitate their incorporation into standard of care and more rapidly translate into benefit for Ewing sarcoma patients.

#1761 Whole-genome sequencing reveals contribution of rare and common variation to structural kidney and urinary tract malformations

Abstract Background and Aims Structural kidney and urinary tract malformations are the commonest cause of kidney failure in children and young adults. Targeted and whole-exome sequencing has identified over 50 monogenic causes for these phenotypically heterogeneous conditions but have largely focused on cohorts enriched for familial, syndromic, or consanguineous disease. We sought to better characterise the genetic architecture of these conditions using whole genome sequencing (WGS) data from the UK's 100 000 Genomes Project. Method 992 unrelated individuals with structural kidney and urinary tract malformations were assessed using the Genomics England clinical interpretation pipeline to determine a genetic diagnosis. Statistically robust case-control association testing was performed using WGS data from a subset of 813 patients and 25 205 ancestry-matched unaffected individuals seeking enrichment of common and rare single-nucleotide and structural variants (SNV/SVs) on a genome-wide, per-gene, and cis-regulatory element basis. Heritability analysis was carried out in 623 cases and 20 060 controls of European ancestry with polygenic risk scores (PRS) derived for each of the six phenotypes. The PUV-PRS was validated in an independent cohort of 77 patients from the AGORA data- and biobank and an additional 2 746 European controls. Results The overall diagnostic yield was 4.3% (43/992; Fig. 1) with age &amp;lt; 18 years (P = 2.0 × 10−4), family history (P = 7.5 × 10−3) and extra-renal features (P = 1.9 × 10−4) all independent predictors of a genetic diagnosis. The diagnostic yield was higher in cases with cystic kidney dysplasia (10.7%) or kidney anomalies (5.9%). HNF1B was the most frequently identified cause. Exome-wide rare variant analysis identified enrichment of SNV/indels affecting AUTS2 (P = 3.7 × 10−6), ARHGAP5 (P=6.0 × 10−6), known kidney malformation gene HNF1B (P = 6.1 × 10−6), and ZNF879 (P=7.0 × 10−6), all of which have been previously implicated in developmental and/or cancer pathways. An increased burden of rare SVs affecting HNF1B (P = 3.1 × 10−4) was observed. There was no evidence of enrichment for cis-regulatory element disrupting SVs. Genome-wide testing of 19 million common and low-frequency variants (minor allele frequency &amp;gt; 0.1%) did not detect any individual variants that were significantly associated in the total cohort, but together these variants were estimated to contribute to 23% (standard error 11%) of the heritability of kidney and urinary tract malformations in cases with European ancestry. Comparison of phenotype-specific PRS showed considerable overlap between kidney anomalies, cystic kidney dysplasia, obstructive uropathy and vesico-ureteric reflux but the polygenic contribution to PUV and bladder exstrophy was distinct (Fig. 2). A PUV-PRS consisting of 36, 106 variants was validated in an independent European cohort of 77 cases and 2 746 controls (empirical P = 1 × 10−4). Conclusion We show that non-Mendelian genomic factors are important for the pathogenesis of structural kidney and urinary tract malformations, supported by the observation that a minority of patients in this large unselected cohort have a monogenic diagnosis. In addition, a significant proportion of heritability can be attributed to common and low-frequency variation and there is overlap in the polygenic contributors to upper urinary tract malformations with distinct polygenic signatures relevant to PUV and bladder exstrophy. Larger cohorts of patients are needed to increase power to detect variants contributing to this heritability and identify biological mechanisms and pathways important for kidney and urinary tract development.

The Impact of Poverty on Children’s Well-Being and Health Behavior Based on the Results of Research Conducted in One of Hungary’s Most Disadvantaged Micro-Regions

This empirical research on children’s poverty and the accompanying risk behavior was conducted in the Baktalórántháza micro-region, in one of the most disadvantaged micro-regions of Hungary. The study, completed in 2023, was conducted utilizing three methods, a questionnaire for families, interviews, and focus group interviews with social professionals working in the settlements. The region is one of the ten micro-regions with the highest poverty rate in the country. The majority of the population only has an elementary education, and the proportion of graduates is much lower than the national average. The proportion of households with three or more children is higher than the national average and the proportion of unemployed people in households with children is twice as high as the national average. Based on the experience of social workers working in the area, in addition to smoking and drinking alcohol, the consumption of psychoactive and psychotropic substances has increased among adolescents and young adults. Based on various indicators, children regularly consume illegal drugs. The origin and composition of these drugs are typically unknown. According to the reports by drug users, everyday life is easier, and they can escape from problems when under the influence of drugs. Based on the observations of experts, the consumption of various psychoactive substances has harmful effects on behavior, health, learning, and family life. School performance and the ability to think and learn decrease. Drug users are dissatisfied with their lives, have problems with social relationships, engage in partner violence, and may develop antisocial behavior in their lives.