Search Results (546)

Variants in ELAC2, a gene encoding the mitochondrial RNase Z enzyme essential for mitochondrial tRNA processing, have been associated with severe pediatric-onset mitochondrial dysfunction, primarily presenting with developmental delay, hypertrophic cardiomyopathy (HCM), and lactic-acidosis. We hereby report the case of a 25-year-old young woman presenting with dilated cardiomyopathy (DCM) and peripheral sensorimotor polyneuropathy, harboring a homozygous variant in ELAC2. The same variant has been reported only once so far in a case of severe infantile-onset form of HCM and mitochondrial respiratory chain dysfunction, with in vitro data showing a moderate reduction in the RNase Z activity and supporting the current classification as C4 according to the American College of Medical Genetics (ACMG) criteria (PS3, PM2, PM3, PP4). Our extensive clinical, imaging, histological, and genetic investigations support a causal link between the identified variant and the patient’s phenotype, despite the fact that the latter might be considered atypical according to the current state of knowledge. A detailed review of the existing literature on ELAC2-related disease is also provided, highlighting the molecular mechanisms underlying tRNA maturation, mitochondrial dysfunction, and the variable phenotypic expression. Our case further expands the clinical spectrum of ELAC2-related cardiomyopathies to include a relatively late onset in young adulthood and underscores the importance of comprehensive genetic testing in unexplained cardiomyopathies with multisystem involvement. Full article

Although evidence suggests adiposity as a modifiable risk factor for postmenopausal breast cancer (BC), its association with premenopausal BC remains uncertain. This potential differential relationship for menopausal status has been insufficiently investigated in the Moroccan population due to limited data. This study aims to assess the relationship between various indicators of adiposity and the risk of BC among Moroccan women by menopausal status. A multicenter case-control study was conducted in Morocco between December 2019 and August 2023, including 1400 incident BC cases and 1400 matched controls. Detailed measures of adiposity and self-reported measures from different life stages were collected. Unconditional logistic regression analyses were conducted to estimate odds ratios (ORs) and 95% confidence intervals (95% CIs) for the association between body size indicators and the risk of BC, adjusting for a range of known risk factors for BC. Higher waist circumference (WC) and hip circumference (HC) were associated with an increased risk of BC in both pre- (p-trend < 0.001 for both WC and HC) and post-menopausal women (p-trend < 0.001 for WC, 0.002 for HC). Current body mass index (BMI) ≥30 kg/m² increased the risk of postmenopausal BC (p-trend = 0.012). Among postmenopausal women, higher weight at age 20 was positively associated with BC risk (p-trend < 0.001), while, weight at age 30 was significantly associated with increased BC risk in both pre- (p-trend = 0.008) and post-menopausal women (p-trend = 0.028). Interestingly, weight gain since age 20 was inversely associated with BC risk in postmenopausal women in the adjusted model (p-trend = 0.006). Young-adult BMI observed a significant increased trend with BC risk in both pre- (p-trend = 0.008) and post-menopausal women (p-trend < 0.001). In premenopausal women, larger body shape during childhood and early adulthood was positively associated with BC risk (p-trend = 0.01 and = 0.011, respectively). In postmenopausal women, larger childhood and adolescent body silhouettes were also associated with increased BC risk (p-trend = 0.045 and 0.047, respectively). These results suggest that anthropometric factors may have different associations with pre- and post-menopausal BC among Moroccan women. This underscores the importance of conducting large prospective studies to better understand these findings and explore their links to different molecular subtypes of BC. Full article

Myocardial hypertrophy (MH) represents a complex and heterogeneous condition in the pediatric and young adult population. While rare in children, MH encompasses a wide spectrum of physiological and pathological entities, ranging from transient hypertrophy in the infants of diabetic mothers to progressive genetic hypertrophic cardiomyopathies (HCM) with significant morbidity and mortality. Differential diagnosis is critical, as many phenocopies—including metabolic, mitochondrial, and syndromic diseases—can mimic HCM. Echocardiography remains the first-line imaging modality, with cardiac magnetic resonance (CMR) and molecular diagnostics increasingly used for detailed characterization. Risk stratification tools, such as the HCM Risk-Kids model, support clinical decision-making but must be integrated with individualized assessment. Advances in prenatal screening and genetic testing have significantly improved outcomes, though long-term management requires multidisciplinary care. Understanding age-specific presentations and the underlying etiologies is essential for accurate diagnosis and targeted treatment. This review provides a comprehensive overview of cardiac hypertrophy from fetal life through young adulthood, with a focus on etiologies, diagnostic approaches, imaging modalities, and therapeutic strategies, and aims to guide clinicians through the evolving landscape of MH, emphasizing early recognition, comprehensive evaluation, and personalized care. Full article

Background: Longitudinal studies on cognitive disengagement syndrome (CDS) are scarce, and only one study has investigated the trajectory of CDS from childhood to early adulthood. Given this, the aims of the present study were to explore, with a quasi-longitudinal design, (1) whether scores for childhood CDS were associated with scores for CDS during early adulthood; (2) whether childhood CDS scores were associated with childhood and adult scores for depression, anxiety, stress, and insomnia; (3) whether childhood CDS, depression, anxiety, stress, and insomnia and adult depression, anxiety, stress, and insomnia were independently associated with adult scores for CDS, and (4) whether childhood CDS scores were directly and indirectly associated with adult CDS scores via adult depression and stress in two conditional effect models. Methods: A total of 246 young adult students (mean age = 22.62; 56.3% females) participated in a cross-sectional and quasi-longitudinal study. The participants completed questionnaires assessing CDS (Adult Concentration Inventory; ACI), depression, anxiety, stress, and insomnia for the following two developmental periods: for the present time point as young adults and for a past time point, when they were about eight years old. To enable retrospective past recall, the participants undertook a standardized imagination exercise. Results: Childhood scores for CDS, depression, anxiety, stress, and insomnia were highly associated with adult scores for CDS, depression, anxiety, stress, and insomnia. In the regression model, higher childhood scores for CDS, depression, and anxiety and higher adult scores for depression, stress, and insomnia, but not adult anxiety, were strongly and independently associated with adult scores for CDS. In the two conditional effects models, childhood CDS was associated with adult CDS directly and indirectly via adult depression and adult stress. Conclusions: In this quasi-longitudinal study, childhood scores for CDS were associated with adult scores for CDS, suggesting a potentially stable trajectory of CDS from childhood to early adulthood. Further, the two conditional effects models suggested that childhood and adult CDS were both directly and indirectly associated via adult depression and stress. As such, symptoms of depression, anxiety, stress, and insomnia should be considered in conceptualizations of adult CDS. Next, given that standardized psychotherapeutic interventions for depression, stress, and insomnia are available, such interventions might also favorably impact CDS symptoms. These findings further underscore the importance of prospective longitudinal and intervention studies on adult CDS. Full article

Background and Objectives: Congenital heart defects (CHD) affect around 1% of the population, making them the most common congenital disease worldwide. Thanks to advances in treatment, over 90% of affected children are able to reach adulthood, shifting focus to long-term outcomes such as disease-specific quality of life (DsQoL). To date, there has been no validated, standardized instrument for assessing DsQoL in young German CHD patients. This study introduces the Congenital Heart Disease Specific Inventory (CHDSI), the first freely available German-language instrument for measuring DsQoL in children and adolescents with CHD. Materials and Methods: The CHDSI was developed at the German Heart Center Munich in collaboration with affected children and adolescents and validated nationwide via the National Register for Congenital Heart Defects (NRCHD) with 1201 participants (46 kindergarten children, 530 children, 625 adolescents). Two age-specific versions (36/37 items) and a 31-item preschool version were created, alongside a 6-item short form (CHDSI-SF) for rapid screening. Reliability was assessed using Cronbach’s alpha and split-half methods; construct validity via confirmatory factor analysis (CFA) using DWLS; and score interpretation through standardized stanine scales. The small sample size of kindergarten children precluded a model test for this group. The standard values given for this subsample should therefore be interpreted with caution. Results: The CHDSI showed excellent internal consistency (Cronbach’s α = 0.856 to 0.900) and high split-half reliability (>0.95). CFA confirmed a robust six-factor structure with excellent model fit (CFI and TLI ≥ 0.991, RMSEA ≤ 0.05). Subscales showed strong discriminant validity, and significant differences were found by CHD severity and sex. Conclusions: The CHDSI is a psychometrically valid, age-appropriate, and freely available instrument for assessing DsQoL in children and adolescents with CHD. It provides valuable support for clinical decision-making and research. Further studies should explore international validation and cultural adaptation. Full article

Objectives: This systematic literature review aimed to identify studies assessing the clinical efficacy and real-world effectiveness of current and emerging treatments for Fabry disease. Methods: Searches of the MEDLINE, EMBASE, and Cochrane library databases, as well as relevant congress proceedings, were conducted to identify publications reporting on studies in patients of any age, sex, race, or ethnicity who received any approved or experimental treatment for Fabry disease, published before 17 June 2024. Results: Of 1881 publications screened, 234 reported data on renal, cardiac, cerebrovascular, and disease severity outcomes from 225 studies. The majority of reported studies were observational in nature (n = 150; 67%) and involved only adults (n = 172; 74%). Study designs and patient populations were highly heterogeneous, and cross-study conclusions about the effectiveness of different therapies could not be made. Enzyme replacement therapy (ERT) with agalsidase alfa or agalsidase beta stabilized renal function and cardiac structure in patients with Fabry disease. Early initiation of ERT in childhood or young adulthood was associated with better renal and cardiac outcomes than treatment initiation at a later age. The small number of comparator studies of agalsidase alfa and agalsidase beta suggested similar efficacy. Patients treated with migalastat and pegunigalsidase alfa also maintained stable renal function and cardiac structure. Conclusions: Overall, current treatments slow the progression of renal and cardiac decline in patients with Fabry disease. Large cohort studies with long-term follow-up and baseline stratification based on clinical phenotype are needed to address evidence gaps and provide clinicians with robust data to inform treatment decisions. Full article

Background and clinical significance: Ectopic ureters are a rare urinary tract malformation, typically diagnosed in childhood and infrequently in adulthood. The prenatal detection by ultrasound and magnetic resonance imaging (MRI) of this clinical entity has scarcely been reported. Careful foetal scanning during the late second and third trimester might provide clues and lead to prenatal detection. However, even the postnatal diagnosis is challenging, and often delayed towards adulthood, since the condition may present with nonspecific symptoms, leading to underdiagnosis or misdiagnosis. In female patients, approximately 25% of ectopic ureters open into the vagina. Due to the high risk of recurrent urinary tract infections and the potential development of uretero-hydronephrosis, timely diagnosis is essential, and prompt surgical correction is mandated. Case presentation: We report the case of a 33-year-old GII PI patient diagnosed with cystic dysplasia of the left foetal kidney at the 16 WG (weeks of gestation) scan. The malformation was consistent at 21 WG when karyotyping by amniocentesis identified a normal female molecular karyotype. MRI performed at 28 weeks confirmed the left renal dysplasia and raised the suspicion of an abnormal insertion of the left ureter into the vagina. After delivery, the vaginal ureteral ectopy was confirmed at 3 weeks postpartum via cystoscopy. Postpartum whole exome sequencing identified a variant of uncertain significance (VUS) mutation in the SOX 13 gene (SRY-box transcription factor 13). Renal scintigraphy performed 7 months postnatally identified a hypo/afunctional left kidney which led to the indication of nephrectomy by the paediatric urologist. The surgical intervention was performed at 8 months postpartum with a favourable outcome. Conclusions: Ectopic ureters are a pathology generating life-long morbidity and discomfort of the offspring and young adult. Awareness to this pathology must be raised among clinicians, especially regarding the potential detection by minute prenatal ultrasound examinations, followed by MRI to refine diagnosis. Postnatally, the persistence of suspicious yet unspecific symptoms, in both males and females, must trigger thorough imaging/cystoscopic examination to reach diagnosis and provide correct management. Full article

Historical cross-sectional approaches examining cognitive aging consistently reveal a pattern of steady decline on nonverbal problem-solving, speeded tasks, and maintenance on verbal tasks. However, as measures developed and broadened the factor structure to align with Cattell–Horn–Carroll (CHC) theory, and age ranges were extended from 75 to 90 years, a more nuanced approach to cognitive aging emerged. The present study, using the Wechsler Adult Intelligence Scale, Fifth Edition (WAIS-5), examined the cognitive aging process through a cross-sectional approach. WAIS-5 normative sample data (aligned with the 2022 U.S. census) were obtained from the test publisher. The sample included adult participants aged 20–24 through 85–90 (n = 1660), which were mapped into 11 age groups. Using post-stratification weighting to control for educational attainment, cognitive decline was observed throughout aging; verbal skills were maintained longer than other abilities, while processing speed declined steadily and rapidly from young adulthood to old age. Working memory was vulnerable to the aging process but demonstrated slower patterns of decline than the other vulnerable abilities. Fluid reasoning and visual spatial skills (although aligning with separate CHC broad abilities theoretically) were strikingly similar in their pattern of decline across a person’s lifespan. Results are highly consistent with the large body of cross-sectional research conducted during the previous generation by Salthouse and his colleagues, as well as other teams of researchers. Full article

The presence of hope significantly influences how youth interpret possibilities and commit to future-oriented action. This qualitative study investigates how fifteen Black emerging adults, ages eighteen to twenty-five, living in a major United States urban city on the East Coast, describe their aspirations, goal-setting strategies, and responses to personal and structural challenges. Participants were categorized as connected or disconnected based on their engagement in school, work, or training programs. Using Reflexive Thematic Analysis of interviews, the research identified key differences in agency, emotional orientation, and access to guidance between the two groups. Connected participants often described clear, structured goals supported by networks of mentorship and opportunity. Disconnected participants expressed meaningful hope, yet described fewer supports and greater uncertainty in achieving their goals. These findings highlight how consistent exposure to guidance and structured environments strengthens future orientation and internal motivation. These results deepen our understanding of how young people experience hope across diverse contexts and show that mentorship, intentional goal setting, and greater access to opportunity play a vital role in sustaining hopeful thinking during the transition to adulthood. Full article

The transition towards adulthood represents a complex period in which the development of personal identity culminates in young adults, whilst, at the same time, many undertake university studies in order to access the job market. The aim of the present study was to analyse the associations between self-concept, motivation, and learning strategies in the Spanish university context using structural equations to examine sex as a modifying factor. A descriptive, cross-sectional, and ex post facto study was conducted with a representative sample of 2736 students. The results revealed a positive association between academic self-concept and the three basic psychological needs, with the needs of autonomy and competence being of particular importance amongst the males. It was determined that the satisfaction of all of the needs favoured the development of learning strategies in both genders, with the exception of the need for relatedness, which was not relevant. Finally, it was demonstrated that the females employed better elaboration strategies, whilst the males were better able to regulate effort. It can, therefore, be concluded that the promotion of self-determined motivation favours the development of a positive self-image and learning strategies, with it being crucial for students to be intrinsically motivated. This may help university students avoid dropping out from degree courses. Full article

Background/Objectives: To examine the association between body composition and glucose tolerance in young adults with normal weight, overweight, or obesity. Methods: This observational case–control study included 154 healthy individuals aged 18–25 years. Participants were categorized into three BMI-based groups and underwent anthropometric and body composition assessments using bioelectrical impedance. Glucose tolerance was evaluated via oral glucose tolerance testing, with capillary blood samples collected at baseline and at 30, 60, 90, and 120 min post load. Results: Compared to the normal-weight group, overweight and obese individuals exhibited significantly higher body weight, BMI, visceral and total fat percentages, and reduced muscle mass. Obese participants also showed a significantly greater glucose area under the curve (AUC) and higher fasting and post-load glucose levels. Visceral fat was positively correlated with metabolic impairment. These results indicate a progressive decline in glucose tolerance associated with increasing adiposity and reduced lean mass. Conclusions: Young adults with elevated BMI already demonstrate marked alterations in body composition and impaired glucose tolerance, even in the absence of overt metabolic disease. These findings underscore the importance of the early identification of at-risk individuals using simple, non-invasive tools. Preventive strategies promoting healthy body composition in early adulthood may reduce the future risk of diabetes and its associated complications. Full article

Fanconi anemia (FA) is characterized by faulty DNA repair and is associated with bone marrow failure, acute myeloid leukemia (AML), and myelodysplastic syndrome (MDS). Because of the more widespread use of next-generation sequencing (NGS) and increased testing for germline mutations in young patients with MDS and AML, FA is increasingly being first diagnosed in adults, many of whom lack classical physical stigmata. Hematopoietic stem cell transplant is the only cure for the hematologic manifestations of FA but there are several unique considerations in FA patients, including first maintaining a high index of suspicion for the diagnosis in patients with minimal phenotypic abnormalities, second an exaggerated sensitivity to alkylating agents and radiation, precluding the use of standard myeloablative conditioning regimens despite the young age of most of the patients, and lastly a marked propensity for squamous cell cancers of the upper aerodigestive tract and anogenital region, likely further increased by the drugs used in conditioning and by chronic inflammation in patients who develop graft-versus-host disease. Despite a growing number of FA patients surviving into adulthood or first being diagnosed with FA as an adult, there is minimal literature describing transplant methodology and outcomes. In the following case-based review of a patient, we incorporate recent findings from the literature on the care of this challenging patient population. Full article

Background: Decision-making under risk is a crucial process for undertaking health behaviors. Although the influence of individual differences on decision-making under risk has been widely examined, there is no clear consensus yet as to how to explain this process considering both young and older adults. The main aim of this preliminary study was to examine age differences in decision-making under risk, risk propensity, sensation-seeking, and self-conscious emotions between younger and older adults. Methods: A total of 40 subjects (20 young adults and 20 older adults) participated in the present study. The young adults were aged 18–35 years (M = 23.25, SD = 2.59). The older adults were aged 65–70 years (M = 68.50, SD = 4.01). Participants completed the Risk Propensity Scale, the Sensation-Seeking Scale, the Test of Self-Conscious Affect, and the Prisoner’s Dilemma Game. Results: The results indicated that the groups showed different behaviors in sensation-seeking (p < 0.001, pη2 = 0.14). The older group showed a larger propensity to seek recreational activities and unconventional behaviors than the younger group (p < 0.0001, d = 0.78; p = 0.001, d = 0.75). Also, the older adults demonstrated a greater inclination toward pride (p < 0.01, d = 0.78), whereas younger adults exhibited a stronger tendency towards shame (p < 0.01, d = 0.76). Conclusions: These data suggest a shift in risk preferences as individuals age, potentially influenced by a variety of psychological, social, and experiential factors. The applications of this study can support psychological well-being, productivity, and quality of life in later adulthood. Full article

This article explores the impact of internalized oppression on young women of colour in Norway, focusing on how it unfolds across individual life trajectories. Drawing on a qualitative methodology, the study is based on narrative in-depth interviews with thirteen participants aged 18 to 35. The findings reveal that internalized oppression, particularly related to physical appearance, emerges early in life and is often reinforced through social interactions such as bullying, exclusion, and racialized commentary. These experiences frequently convey implicit preferences for whiteness, leading to marginalization and insecurity during adolescence. In response, several participants engaged in practices of assimilation, altering their physical appearance in attempts to embody features aligned with dominant white norms. In adulthood, many of these women have developed a critical awareness of internalized oppression and are engaged in processes of decolonizing their self-perceptions through solidarity with other women of colour. Nevertheless, they continue to grapple with lingering internalized biases. This study highlights the need for further research into the life narratives and everyday experiences of racialized individuals to better understand how they navigate, resist, and unlearn internalized oppression—while also considering the gendered dimension of how such oppression works. Full article

Whiplash-associated disorder (WAD) is common following motor vehicle collisions (MVCs). The yearly incidence rate in the Western world has been reported to be around 300 per 100,000 habitants, but no publications have examined yearly incidence across a period that includes the COVID-19 pandemic. A retrospective, epidemiological study was conducted in Iceland involving data from the University Hospital and the healthcare centers for the Capital Region for all individuals who visited the emergency department during 2010–2024 due to TAs, with a diagnosis indicating whiplash injury. The yearly incidence rate was calculated and presented per 100,000 person-years and analyzed by age, sex, months, and weekdays. The overall incidence of whiplash injuries was 267 per 100,000 person-years, greater for females than males (p < 0.001) with a significant effect of age (p < 0.001), the greatest rate being seen in young adulthood. A significant effect of time was seen across the study period (p < 0.001) due to a sharp decline between 2016 and 2020, followed by a continued low yearly incidence rate, with the smallest one seen in 2024 (78 per 100,000). Despite an increase in MVCs worldwide, the incidence of whiplash injuries following MVCs has declined significantly over the past decade. This trend may reflect shifts in injury patterns, healthcare-seeking behavior, or reporting practices. Full article