Search Results (2,681)

The transcriptomic effects of hybridization and triploidization were investigated in diploid and triploid rainbow trout, diploid brook trout, as well as triploid hybrids of rainbow trout and brook trout. The examined fish were reared under identical conditions for about two and a half years after hatching. Expression of ten genes involved in cellular respiration (Atp5bp, Slc25a5), mitochondrial functioning (Mrpl28, Micu2), ribosome biogenesis (Rpl24, Rps24), proteasome-mediated protein turnover (Derl1, Psmc2), and protein chaperoning (Hsp90B1, Pdia4) was studied in liver and muscle tissues. Most of the analyzed genes (Atp5bp, Slc25a5, Mrpl28, Micu2, Rpl24, Rps24, Derl1, and Psmc2) displayed comparable expression levels in the liver tissue across the examined triploid hybrids and diploid parental species, with stabilization of genes that were both positively and negatively compensated in the triploid rainbow trout. In turn, significant upregulation of Slc25a5, Derl1, Rps24, and Rpl24 genes, together with downregulation of Micu2 gene, was observed in the triploid rainbow trout liver and muscle, respectively. On the other hand, triploid hybrids showed marked transcriptional upregulation of genes primarily associated with energy metabolism and protein synthesis (Atp5pb, Slc25a5, Rpl24, Rps24, and Pdia4) relative to all the fish groups examined. Although protein-synthesis- and energy-related genes were upregulated in the muscles of triploid hybrids, the recorded growth performance data did not indicate clear evidence of growth heterosis (MPH = −14.3% for body weight; MPH = −0.4% for body length), suggesting that potential benefits of increased heterozygosity in this cross may not be fully reflected in enhanced growth. Three- to four-fold downregulation of the heat shock protein (Hsp90B1) gene was also observed in both tissues of triploid hybrids compared with purebred diploid and triploid trout, which may reflect potential maladaptive genomic effects commonly observed in distant salmonid crosses, suggesting altered stress-response regulation in the examined triploid hybrids. Full article

Background: Oral health during adolescence is a key determinant of long-term well-being and health equity. Despite widespread recognition of its importance, disparities in knowledge, motivation, and access to care persist. This study was conducted in Salt (Catalonia, Spain), a municipality with a population of approximately 33,000, characterized by a low average household disposable income (€12,512 per capita) and a high proportion of immigrant residents (37.76%). These sociodemographic characteristics may influence adolescents’ oral health behaviour, perceptions, and access to dental care. The study aimed to explore adolescents’ knowledge, habits, and attitudes towards oral health in this context, with barriers and protective factors, to inform community-based health promotion strategies. Methods: A qualitative descriptive study was conducted using focus group discussions with Spanish adolescents aged between 12 and 16, following ethical approval and informed consent from legal guardians. Data were systematically analysed using thematic analysis. Results: The adolescents had moderate oral health literacy, with basic knowledge of dental caries and prevention, but notable gaps in their knowledge regarding systemic consequences and complementary resources. Oral health behaviours and practices were shaped by social, economic, and normative influences, while parental involvement, community support, and school-based initiatives emerged as key assets for the promotion of oral health. Conclusions: While adolescents in Salt show awareness of oral hygiene, structural, motivational, and informational barriers limit comprehensive oral health practices. Interventions should move beyond knowledge-based education towards culturally adapted, participatory, and asset-based approaches to promote sustainable improvements in adolescent oral health. Full article

Currently, autism researchers have limited knowledge about stakeholders’ priorities for research. This raises concerns because the autism community has increasingly called for more involvement in research. The present study aimed to provide initial insight into caregiver’s priorities for research that specifically focuses on language and communication in autistic children. Seventy-three caregivers of autistic children completed an online survey with an option to participate in a follow-up feedback session (n = 14). Within the survey, caregivers ranked the importance of 15 communication research topics. Participants also answered questions about barriers and incentives to participating in research. Caregivers highly ranked research that focuses on learning new words, echolalia, and learning to read. Additionally, 87% indicated that they would participate in research that did not involve intervention for their child. The top barrier to participating in autism research was time, and the top incentive was if a study was virtual. Associations between priority rankings and child language skills were also explored. Word learning research was particularly important to caregivers of children who communicated using shorter utterances or through augmentative and alternative communication devices, and research that focused on abstract language was particularly important to parents of autistic children with more advanced language skills. Caregiver feedback sessions provided additional insight into the rankings of research priorities. Caregivers of autistic children value pediatric language and communication research. Many valued research topics aligned with clinical goals in therapy (e.g., learning new words) and skills that highlight less understood learning and communication processes (e.g., echolalia). We discuss how these data can guide researchers as they conduct future autism research. Full article

Background: Food allergy (FA) is an increasing public health concern with significant implications for child health and quality of life. Early introduction of allergenic foods has been shown to reduce the risk of food allergy development; however, maternal awareness and adherence to these recommendations remain inconsistent. This study aimed to assess maternal awareness and practices regarding the timing of allergenic food introduction among mothers residing in Makkah, Saudi Arabia. Methods: A descriptive cross-sectional study was conducted between November 2023 and March 2024 involving parents of children aged younger than 48 monthsin the Makkah region. Data were collected via a self-administered electronic questionnaire distributed through social media platforms. Results: A total of 391 parents participated. Parent-reported food allergy was identified in 11.3% of children, while 14.6% had eczema. Early introduction (<12 months) was more common for egg (43.3%) and wheat (71.1%) compared to peanut (28.9%), tree nuts (30.9%), sesame (30.9%), and seafood (28.9%). A considerable proportion of children had not been introduced to key allergenic foods even after 36 months, particularly peanuts (45.3%) and sesame (42.2%). Children with eczema were significantly more likely to have early introduction of egg (p = 0.035), tree nuts (p = 0.046), and seafood (p = 0.031). Similarly, children with a family history of food allergy had higher early introduction rates of tree nuts (55.3% vs. 44.0%, p = 0.043) and seafood (62.3% vs. 49.1%, p = 0.019). Only 25.8% of mothers were aware that early introduction might prevent food allergies, and just 22% reported receiving professional advice to introduce allergenic foods early. Conclusions: Maternal awareness regarding the timely introduction of allergenic foods in Makkah remains limited, with delayed introduction persisting beyond 36 months for several high-risk allergens. These findings underscore the need for targeted educational interventions and improved counseling by healthcare providers. Full article

Background: Tumor-derived small extracellular vesicles (sEV), which we call TEX, carry a cargo of molecules that resembles the producer tumor cells. Circulating freely in body fluids, TEX potentially serve as a liquid tumor biopsy. TEX horizontally transfer their cargo to various recipient cells, imparting to them pro-tumor activity. Mechanisms of TEX-driven reprogramming might involve nucleic acids, especially double-stranded (ds)DNA. Methods: TEX isolated from supernatants of human tumor cells were identified as sEV, based on their size, endocytic origin and morphology. TEX treated with DNase/RNase cocktail were examined by transmission and cryo-electron microscopy and tested for biologic activity. DNA was extracted from enzyme-treated TEX, quantified by Qubit and analyzed for fragment sizes. The presence of genomic DNA in TEX was confirmed by PCR, and sequencing of the TP53 gene fragment for a mutational signature was performed. Results: Enzymatic and microscopic studies of TEX showed that nucleic acids are present in the biocorona on the outer surface. Their removal interfered with the biocorona integrity. A short TEX exposure to DNase/RNase altered their morphology without impairing vesicle functions; longer treatments induced TEX re-organization into smaller membrane-bound vesicles. The TEX lumen contained long fragments of protected genomic DNA with a mutational signature reflecting that of the tumor. Conclusions: Nucleic acids present on the TEX surface support the vesicular integrity. The TEX lumen contains membrane-protected large (ds)DNA fragments with the mutational signature of the parent tumor. The presence of surface and luminal nucleic acids in TEX, and especially their mutational signature, suggests that TEX may serve as highly promising cancer-specific biomarkers. Full article

Background: Contemporary models of parental burnout conceptualize it as an interplay between parental demands and insufficient resources. However, research and current models remain sparse in their understanding of these demands and dynamics within the context of managing a child’s sleep wellness and related problems, which constitute a fundamental aspect in early parenting. The present work addresses this gap by examining this issue comprehensively. Methods: 2291 mother–child dyads were recruited from two sources: a random population sample (n = 1409) and a clinical sample (n = 882) of mothers seeking consultation for their child’s sleep issues (0–5 years old). Mothers completed an extensive panel of validated instruments and survey questions covering burnout and psychopathologies, sleep parameters, psychosocial, organizational, and demographic variables. Inferential analyses, regression modeling, cluster analysis, and mediation models were applied. Results: Two distinct profiles of parental burnout emerged: one associated with child sleep disturbances and the other with general parenting stress. The strongest-weighted risk factors pertained to maladaptive beliefs and perceptions (e.g., shame, “I am a bad parent”, “My child cries because I do not meet his needs”), as well as additive stressors such as interparental tension and daytime child behavioral problems. The strongest protective factors involved resources that reduced parental demands or facilitated recovery, including couple satisfaction, a consistent bedtime routine, greater capacity to take breaks (e.g., additional caregivers, father nighttime involvement, parental cohabitation, and child screen time). Conclusion: The identification of two distinct burnout profiles highlights the importance of incorporating, or placing more centrally, the management of young children’s insomnia in contemporary theoretical models of parental burnout. This research highlights the need for interventions on healthy self-beliefs and perceptions, effective daytime parenting strategies, positive couple dynamics, consistency in bedtime routines, and equitable distribution of caregiving responsibilities between parents to reduce the risk of parental burnout. Full article

This study examines the perceived impact of sensory and interactive architectural design in inclusive learning environments on the sensory–emotional responses and behavioral–academic outcomes of children with neurodevelopmental disorders—namely Autism Spectrum Disorder, Down Syndrome, and Attention-Deficit/Hyperactivity Disorder—during early childhood within the Egyptian educational context. Adopting a perception-based, non-causal analytical perspective, a descriptive–analytical, survey-based design was implemented using a validated questionnaire developed from an architectural–educational conceptual framework grounded in relevant literature. The study involved (N = 202) parents, teachers, therapists, and caregivers who evaluated the perceived influence of environmental design elements on children’s sensory responses, behavior, social interaction, and academic performance, based on observational and experiential assessments rather than objective environmental performance measurements. The results indicated high perceived impacts on sensory–emotional responses (84.8%) and behavioral–academic outcomes (82.0%). Movement–spatial attributes showed the strongest influence, followed by balanced natural lighting, calming colors, natural materials, and low-noise acoustic conditions, while natural elements and sensory gardens played a regulatory role in supporting emotional stability and social interaction. The study concludes that sensory- and emotionally responsive architectural design, when understood as a supportive component of the educational experience rather than an independent causal factor, and integrated with appropriate pedagogical practices, contributes to inclusive learning environments accommodating neurodevelopmental diversity, while informing the development of an applied, evidence-informed architectural design framework that translates perceptual–correlational findings into structured and operational design guidelines adaptable to the Egyptian educational context. Full article

Parental educational involvement is a pivotal factor associated with an individual’s academic development; however, its specific association with academic delay of gratification and the underlying mechanisms remain not fully understood. Drawing upon ecosystem theory, this study examined a serial mediation model to explore the links between parental educational involvement and academic delay of gratification, focusing on the mediating roles of self-control and consideration of future consequences. A cross-sectional design was employed, involving 726 junior high school students. Data were collected using the Parental Educational Involvement Scale, Academic Delay of Gratification Scale, Self-Control Scale, and Consideration of Future Consequences Scale, with statistical analyses performed via SPSS 26.0 and the PROCESS macro. The results indicated that: (1) parental educational involvement, academic delay of gratification, self-control, and consideration of future consequences were positively correlated with each other in a pairwise manner; (2) academic delay of gratification was significantly predicted by parental educational involvement (β = 0.117, p < 0.001); (3) self-control and consideration of future consequences play a mediating role in the relationship between parental education involvement and academic delay of gratification. There are three mediating pathways involved in this process: the individual mediating role of self-control (β = 0.092, 95% CI [0.054, 0.133]), the individual mediating role of consideration of future consequences (β = 0.030, 95% CI [0.015, 0.050]) and the chain mediating role of self-control and consideration of future consequences (β = 0.015, 95% CI [0.008, 0.024]). This study examined the internal mechanism between parental educational involvement and academic delay of gratification, which is helpful in improving junior middle school students’ ability to engage in academic delay of gratification. Full article

Background: In countries lacking donor registries, related donors, including haploidentical ones, often serve as the main option. This research aimed to examine the feasibility of locating donors for allogeneic hematopoietic stem cell transplants and to assess the outcomes associated with various donor types. Methods: Between 2019 and 2024, a retrospective observational study was carried out, involving 520 patients and 824 potential stem cell donors. Of these patients, 155 successfully identified a suitable donor and underwent allogeneic stem cell transplantation using mobilized peripheral blood stem cells. The study tracked overall and event-free survival over a five-year period to assess outcomes based on different donor types. Results: With alternative related donors (ARDs), 91% of patients were able to find at least one suitable donor for transplantation. The chances of identifying an appropriate donor increase with a larger pool of potential donors. Transplantation outcomes using ARDs, such as siblings, children, or parents, were similar to those with matched sibling donors. Other relatives could be considered as potential haploidentical donors, but the results with these donors were less favorable compared to those of others. Conclusions: The use of ARDs has significantly expanded the availability of related donors, with promising outcomes. Full article

The article presents a clinical case involving a patient with presumptive coexistence of two hereditary disorders, confirmed by molecular genetic analyses. Clinical evaluation of the proband, a 9-year-old girl, revealed features characteristic of Kabuki syndrome, including a typical “Kabuki makeup” facial phenotype, short stature, intracranial hypertension, and diffuse muscular hypotonia. Additional clinical findings included chronic right-sided otitis media, conjunctivitis, recurrent pneumonia, bilateral conductive hearing loss, astigmatism, and primary adenitis. Clinical assessment and molecular genetic testing were performed. High-throughput sequencing identified a previously reported pathogenic heterozygous variant in the KMT2D gene, NM_003482.4:c.15142C>T p.Arg5048Cys, and two known heterozygous variants in the CFTR gene: NM_000492.4:c.1521_1523delCTT p.Phe508del and c.3454G>C p.Asp1152His, classified as pathogenic and of variable clinical significance, respectively. Segregation analysis demonstrated that the KMT2D variant most likely arose in the proband de novo, whereas the CFTR variants were inherited from each of the parents. Notably, the proband’s clinically unaffected elder sister carried the same CFTR genotype. Based on the clinical presentation and molecular genetic findings, the diagnosis of Kabuki syndrome type 1 was conclusively established in the patient. Functional assessment of CFTR demonstrated its preserved function, which did not support a diagnosis of CF or CFTR-related disorders. Full article

In recent years, an ion-adsorption type REE deposit has been discovered for the first time in the weathering crust of epimetamorphic rocks in Ningdu County, Jiangxi Province, which provides a new idea for the exploration of ion-adsorption-type REE deposits. However, most previous studies on the ore-forming parent rocks of ion-adsorption-type REE deposits have focused on granites and volcanic rocks, while studies on epimetamorphic rocks remain extremely scarce. In this paper, petrographic analysis of epimetamorphic rocks, LA-ICP-MS U–Pb dating and trace element analysis of zircon and apatite were conducted on the metamorphic tuff from the Kuli Formation in Ningdu County, Jiangxi Province, so as to constrain the formation age and tectonic dynamic setting of the rock mass, investigate the petrogenesis and material source of the rock mass, and reveal the metallogenic potential of the rock mass. The results of zircon and apatite U–Pb dating show that the protolith of the metamorphic tuff from the Kuli Formation formed at ca. 770 Ma, representing a product of mid-Neoproterozoic magmatic activity. The protolith restoration of metamorphic rocks suggests that the protolith of the metamorphic tuff from the Kuli Formation is magmatic rock. The estimated results of zircon Ti thermometry indicate that the magmatic crystallization temperature ranges from 623 to 723 °C, with an average value of approximately 696 °C, and the calculated zircon oxygen fugacity values vary from −18.7 to −9.4, with an average of −13.8, implying that the rock formed under conditions of relatively low temperature and high oxygen fugacity. The correlation diagrams of trace elements and element ratios in zircon and apatite reveal that the magmatic evolution involved extensive fractional crystallization of minerals such as zircon, monazite, apatite, titanite, rutile, and plagioclase during the formation of the rock mass. The discrimination diagrams of trace elements in zircon and apatite demonstrate that the metamorphic tuff from the Kuli Formation was formed in a continental margin arc or arc-related orogenic belt, and the magmatic source is characterized by crust–mantle mixing. Combined with previous research findings on regional tectonic-magmatic activities, it can be concluded that the metamorphic tuff from the Kuli Formation was formed in a tectonic setting of back-arc extension and intra-arc rifting caused by the rollback of the subducting oceanic slab. The upwelling of the asthenospheric mantle induced the partial melting of arc-derived sediments in the continental crust, which was subsequently mixed with mantle-derived magma, ultimately generating the parent magma of the metamorphic tuff. The metamorphic tuff from the Kuli Formation in Ningdu County, Jiangxi Province, has high REE abundance and relatively easily weathered REE mineral assemblages, which can provide sufficient material sources for ion-adsorption REE mineralization and have a great metallogenic potential for ion-adsorption REE deposits. Full article

Background: Juvenile Idiopathic Arthritis (JIA) is the most prevalent rheumatological disease in childhood. It is classified into seven subtypes, each with specific clinical features. The pathogenesis of JIA involves an increased inflammatory response. Treatment options include pharmacological therapy, patient education, physical therapy, and rehabilitation. Methods: Patients received IAC injections and were subsequently divided into two groups: one group underwent HKT, while the other did not. The effects of HKT were assessed before treatment and one month after the IAC injections and initiation of HKT, using the Child Health Assessment Questionnaire (CHAQ), Visual Analogue Scale (VAS), and the Child Health Questionnaire—Parent Form 50 (CHQ-PF50). Results: Data were analyzed using the t-test. The HKT group showed non-statistically significant improvements in CHAQ and VAS scores compared to the non-HKT group. However, statistically significant differences were observed in the CHQ-PF50, particularly in the self-esteem and pain subscales. Conclusions: Although global differences between groups were not statistically significant, the group that underwent HKT demonstrated better scores, suggesting that HKT may reduce pain and contribute to improved quality of life in children with JIA. Full article

Background: Motivation is widely recognized as a key factor influencing learning and rehabilitation outcomes in children with cerebral palsy (CP). Despite its acknowledged relevance, motivation is rarely assessed systematically in pediatric neurorehabilitation, and there is limited consensus regarding appropriate outcome measures. Objectives: This systematic mapping review aimed to examine how motivation-related constructs are assessed in rehabilitation studies involving children with CP, identifying the instruments used and evaluating the extent to which motivation is explicitly measured across different rehabilitation contexts. Methods: The review was conducted in accordance with PRISMA guidelines and registered in PROSPERO (CRD420250651843). PubMed and Scopus were searched for studies published between 2013 and 2025. Eligible studies included rehabilitation interventions for children with CP that incorporated a clearly defined motivation-related outcome. Study quality and risk of bias were assessed using Joanna Briggs Institute tools and the RoB 2 tool. Results: Nine studies met the inclusion criteria, including 109 subjects, comprising randomized controlled trials and case series. Most studies involved children with mild to moderate motor impairment (GMFCS or MACS levels I–II). Motivation was assessed through heterogeneous approaches, including self-efficacy, mastery motivation, participation, adherence, and intrinsic motivation, with data collected from children, parents, therapists, or dyads. Conclusions: Although motivation is frequently cited as a critical component of effective rehabilitation in children with CP, its assessment remains inconsistent and methodologically fragmented. This mapping review, based on a limited and heterogeneous evidence base, highlights the need for standardized, validated, and developmentally appropriate tools to measure motivation-related constructs in pediatric CP rehabilitation. Full article

Low-temperature stress during germination is a major constraint for lettuce establishment in temperate and early-season production systems, causing delayed emergence, poor stand uniformity, and reduced yield. Cold germination represents an adaptive trait that enables seeds to initiate growth under suboptimal temperatures, but its genetic basis in lettuce remains poorly understood. Here, we investigated genetic architecture underlying cold germination using a biparental recombinant inbred line population derived from a cross between Lactuca sativa cv. Salinas and Lactuca serriola (wild lettuce). Phenotypic evaluations revealed substantial variation in germination performance at low temperatures, with cultivated lettuce exhibiting superior cold germination compared with the wild parent. Estimates of heritability indicated that genetic factors accounted for a large proportion of the observed phenotypic variation, demonstrating strong potential for selection. Quantitative trait locus (QTL) analysis identified two genomic regions significantly associated with cold germination ability, together explaining a substantial fraction of phenotypic variance (35%). These regions contained candidate genes involved in hormone signaling, membrane stability, and stress-responsive transcriptional regulation, including components of abscisic acid (ABA), gibberellic acid (GA), and ethylene pathways known to modulate germination under adverse conditions. Together, these results indicate that cold germination is a genetically complex trait that has likely been shaped through domestication and breeding. By elucidating the genetic basis of cold germination in lettuce, this study provides valuable targets for marker-assisted breeding aimed at improving seedling establishment and extending lettuce production into cooler environments. Full article

Hybridization is considered an important process in plant evolution, especially in the origins of domesticated plant taxa, with many crop species being the result of interspecific hybridization events. There are several unidentified lineages of Spondias in the northeastern region of Brazil known only by vernacular names such as ‘cajaguela’, ‘umbu-cajá’, and ‘umbuguela’. These taxa are often regarded as being of hybrid origin, based on supposedly intermediate morphological features. However, the morphology-based hypotheses of hybrid origin and parentage of these Spondias taxa remain largely untested experimentally. We collected 355 accessions of Spondias, including S. bahiensis, other putative hybrid taxa, and both native (S. mombin, S. tuberosa, and S. venulosa) and introduced (S. purpurea) species believed to be the parental taxa. We then reconstructed phylogenies of plastid and nuclear markers and haplotype networks in order to ascertain the genetic affinities between putative hybrids and other Spondias species. All taxa with intermediate morphology were confirmed as hybrids between their putative parental species. All hybrids involving S. purpurea (native to Mexico) appear to be F₁ generation. The recently described S. bahiensis is shown to have originated from hybridization between S. tuberosa and S. venulosa. The other ‘umbu-cajá’ taxon found in Northeastern Brazil is revealed to be the result of hybridization between S. mombin and S. tuberosa. Both the northern ‘umbu-cajá’ taxon and S. bahiensis appear to be well-established hybrid lineages and not early-generation hybrids. Additionally, some introgression and backcrossing processes between S. bahiensis and one of the parents was also observed. Our findings confirm the hybrid origins of the domesticated Spondias taxa found in Northeastern Brazil. Full article