Search Results (2,081)

Within the Developmental Origins of Health and Disease (DOHaD) framework, breast-feeding is a modifiable early postnatal exposure, but its long-term associations are difficult to separate from socioeconomic and family context. We conducted a structured literature search (PubMed/MEDLINE and Scopus; January 2015–December 2025) and prioritised large prospective/birth cohorts and genetic epidemiology studies reporting quantitative associations between breastfeeding in infancy (ever versus never, duration and, where available, exclusivity) and adult outcomes. Eighteen key primary studies were included in evidence tables across cardiometabolic, cancer, and neurocognitive domains. Overall, breastfeeding was associated with modestly lower all-cause and cardiovascular mortality, small reductions in cardiovascular disease and type 2 diabetes, and slightly more favour-able cardiometabolic profiles, including lower adiposity and higher HDL cholesterol. Where reported, effect sizes were generally small (e.g., hazard ratios typically close to 1.00), indicating limited clinical impact at the individual level but potential population relevance. Genetic analyses provide cautious support for a protective association with coronary outcomes, although lipid-mediated pathways appear to explain only a small proportion of the observed associations. Evidence for adult cancer outcomes remains mixed and largely inconclusive, while longer breastfeeding is associated with small ad-vantages in cognitive performance, educational attainment and selected psychological outcomes. Taken together, current evidence suggests that breastfeeding is associated with modestly more favourable adult cardiometabolic and neurobehavioural profiles, but its contribution to long-term health is small relative to the influence of later-life lifestyle and clinical risk factors and should therefore be interpreted cautiously. Full article

The theory of embodied cognition suggests that cognitive development in infancy relies on sensorimotor experiences gained through interaction with the environment. Additionally, the need for more sleep in early childhood may be linked to the development of executive functions. This study examined 255 children in Beijing to investigate these ideas. Motor skills were evaluated at 6 months and 1 year old, cognitive abilities at 2 years old, and executive functions at 3 years old. The results showed that strong motor skills in infancy predicted better executive functions in preschool, and this relationship was fully mediated by cognitive abilities. Furthermore, the mediating effects of cognitive abilities on executive functions were stronger in preschoolers with more and better sleep. In conclusion, motor competence and sufficient sleep are crucial for the development of executive function. Full article

Background and Clinical Significance: Congenital erythropoietic porphyria (CEP), also known as Günther disease, is a rare autosomal recessive porphyria caused by a deficiency of uroporphyrinogen III synthase, leading to the accumulation of phototoxic type I porphyrins. CEP classically presents in infancy with severe photosensitivity, blistering, scarring, and hemolytic anemia; however, significant phenotypic variability has increasingly been recognized. Case Presentation: We report a 32-year-old woman diagnosed with CEP in early infancy who demonstrated persistently and profoundly elevated erythrocyte porphyrin levels over more than a decade, yet who followed a relatively non-mutilating clinical course. Genetic testing identified a low-penetrance intronic UROS variant typically associated with erythropoietic protoporphyria, underscoring diagnostic challenges and genotype–phenotype discordance. The patient experienced marked improvement in photosensitivity and burning pain after initiation of afamelanotide, without the need for transfusion therapy or stem cell transplantation. Conclusions: This case highlights the heterogeneity of CEP, the importance of long-term biochemical follow up, and the potential role of afamelanotide in improving quality of life for selected patients with CEP. Full article

Background: An unroofed coronary sinus (UCS) is a rare congenital cardiac anomaly, accounting for less than 1% of atrial septal defects and frequently associated with a persistent left superior vena cava (PLSVC). Its coexistence with Tetralogy of Fallot (TOF) is exceptionally uncommon and has been reported almost exclusively in isolated case reports. Case Presentation: We report the case of a 20-year-old woman with a history of surgically corrected TOF in infancy, who presented with progressive exertional dyspnea. Multimodality imaging, including transthoracic echocardiography and cardiac magnetic resonance imaging, revealed a large atrial-level shunt caused by a type I unroofed coronary sinus associated with a persistent left superior vena cava, leading to significant right-sided chamber dilation and pulmonary hypertension. Notably, this anomaly had not been identified at the time of the initial TOF repair. The patient underwent a successful surgical correction with interatrial compartmentation and tricuspid annuloplasty, with an uneventful postoperative course. Conclusions: This case underscores the extreme rarity of the UCS–TOF association and highlights the potential for UCSs with PLSVC to remain clinically silent for years after complex congenital heart surgery. A comprehensive reassessment of the systemic venous and atrial anatomy using advanced multimodality imaging is essential in symptomatic adults with repaired TOF, as late-presenting venous anomalies may have significant hemodynamic and clinical implications. Full article

Background: Respiratory syncytial virus (RSV) is a leading cause of hospitalization in early infancy, with the greatest burden occurring in the first months of life. Following the COVID-19 pandemic, many countries experienced intensified RSV circulation. Nirsevimab, a long-acting monoclonal antibody providing season-long protection after a single dose, was introduced in Italy for the 2024–2025 RSV season and recommended for infants born during the period of RSV circulation. We evaluated the population-level impact of this seasonal nirsevimab strategy on RSV-related hospitalizations among young infants. Methods: We conducted a population-based observational study using regional hospital discharge records from Emilia-Romagna, Northern Italy, spanning January 2017 to April 2025. Analyses were restricted to RSV seasons (October–March) and infants aged ≤180 days. RSV-related hospitalizations were identified using ICD-9-CM codes. Hospitalization rates were calculated per 100,000 person-days. Incidence rate ratios (IRRs) were estimated using negative binomial regression models adjusted for season, age group, and sex, with clustering at the hospital level. The post-nirsevimab season (2024–2025) was compared with the immediate pre-nirsevimab season (2023–2024) and a pre-COVID reference season (2018–2019). Results: A total of 551 RSV hospitalizations occurred in the pre-COVID season, 753 in the pre-nirsevimab season, and 252 in the post-nirsevimab season. The post-nirsevimab season was associated with a substantial reduction in RSV-related hospitalization rates compared with both the pre-COVID season (IRR 0.52; 95% CI 0.41–0.66) and the pre-nirsevimab season (IRR 0.36; 95% CI 0.29–0.44). Reductions were observed consistently across epidemic months and were most pronounced during the first three to four months of life. Conclusions: Seasonal administration of nirsevimab to infants born during the RSV circulation period was associated with a marked and sustained reduction in RSV-related hospitalizations in early infancy. These findings support the effectiveness of targeted, seasonally timed infant immunoprophylaxis as a population-level RSV prevention strategy. Full article

Genetic variation in ATP Binding Cassette Subfamily C Member 6 (ABCC6) can cause both pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI). There are 930 distinct missense variants in ABCC6 reported, 87% of which are of uncertain clinical significance (VUS). New approaches are needed to mechanistically interpret and classify these VUS. We developed 3D protein models of ABCC6 in three functionally relevant conformations to calculate the structural effects of variants. We also used three-dimensional (3D) hotspot detection and developed a mechanistic ontology for critical structure-based functions of ABCC6, enabling us to categorize genomic variants. We identified two 3D hotspots and six specific functions of ABCC6 which variants impact. From this, we propose a mechanism for pathogenicity for 41% of VUS according to their impacted function. We propose that 33 of these variants could be reclassified as Likely Pathogenic with the addition of these structure-based evidence. The mechanistic information we present will guide future research to better address calcification disorders and understand genetic variants. This work emphasizes the benefits of thorough, holistic, and protein-based approaches to genetic interpretation. Further, our VUS reclassification approach will improve the diagnosis of ABCC6-driven diseases, shortening diagnostic odysseys. We believe that computational structural genomics approaches will soon take prominence in genomics data interpretation and variant classification. Full article

Background: Mucous stools in infancy are commonly attributed to non–IgE-mediated gastrointestinal food allergies and are generally considered transient and benign. However, whether mucous stools may indicate an atopy-prone clinical phenotype and relate to later respiratory atopy remains insufficiently explored. Objective: To evaluate the long-term risk of respiratory atopy (asthma and/or allergic rhinitis) in infants presenting with mucous stools during the first year of life and to identify early clinical predictors of this risk. Methods: This retrospective cohort study included infants who presented with mucous stools within the first 12 months of life and were followed for four years. Baseline demographic, clinical, dietary, and laboratory data were extracted from standardized medical records. Mucus severity was graded using a pragmatic 0–3 clinical mucus score. The primary outcome was physician-diagnosed asthma and/or allergic rhinitis at four years. Multivariable logistic regression was used to identify independent predictors, with model discrimination assessed by the area under the receiver operating characteristic curve (AUC). Results: A total of 142 infants with complete follow-up data were analyzed. At four years, respiratory atopy was observed in 45 infants (31.7%). In multivariable analysis, family history of atopy (adjusted odds ratio [aOR] 2.68, 95% CI 1.20–5.98, p = 0.016) and wheezing at presentation (aOR 3.74, 95% CI 1.56–8.94, p = 0.003) were independent predictors of respiratory atopy. The mucus score was associated with respiratory atopy in univariable analysis but did not remain an independent predictor in multivariable modeling. The model showed good discrimination (AUC = 0.769). Conclusions: In this cohort of infants presenting with mucous stools in the first year of life, respiratory atopy was observed in nearly one-third by age 4. While mucous stool burden was associated with the outcome in univariable analyses, it did not remain an independent predictor after adjustment. Early wheezing and a family history of atopy were the strongest clinical predictors and may help identify infants who warrant closer follow-up. These findings should be interpreted as associative and hypothesis-generating in the absence of a mucous-stool–free comparison group. Full article

The BRICS economies, facing the threat of climate change, face a policy challenge in transitioning from fossil-fuel-based energy systems and improving environmental quality. This necessitates urgent policy changes in the outdated energy infrastructure of BRICS countries. However, there still remains a policy gap regarding how countries in the BRICS, a group of rapidly developing economies, can grow their economies in line with the Sustainable Development Goals. The aim of our study is to investigate the impact of green energy, green technology, and forest cover on environmental quality in BRICS countries. The BRICS group of countries offers an ideal field of study for both examining the impacts of green energy, green technology, and forest areas on environmental quality in developing economies, as well as for evaluating national and global energy policies. Although numerous studies have empirically examined the relationship between environmental variables and green initiatives, the impact of green initiatives on the load capacity factor has been overlooked. These studies have generally used various econometric methods and have not included machine learning in the process. This study addresses this research gap by focusing on green energy and green technology, which are preferred for their various advantages and make significant contributions to the load capacity factor. To analyze this relationship in BRICS economies between 2000 and 2022, the Augmented Mean Group (AMG) estimator and Machine Learning algorithms were used. According to the results, strong evidence emerges of a positive relationship between green energy, the digital economy, forested area, and the load capacity factor, while a negative relationship exists between green technology, growth, and the load capacity factor. Based on robust empirical findings, renewable energy sources are a key driver of clean energy adoption and can ultimately increase the load capacity factor in BRICS economies. The results also imply that, since developments in green technological innovation in BRICS countries are still in their infancy, investments in green technologies for a sustainable environment need to be qualitatively increased. Full article

Reflective writing is a core component of teacher education, especially during practical internships. However, providing high-quality feedback on reflections is resource-intensive. This study examines descriptively observable associations between an early dual-feedback approach combining basic (automated) and elaborate (human-generated) feedback and structural features of preservice physics teachers’ reflective writing, prior to the widespread adoption of generative AI in education. Using an exploratory, non-equivalent, non-concurrent cohort design, we analyzed participant-level aggregates of written reflections from a non-intervention cohort (N = 22) and an intervention cohort (N = 32), applying a validated reflection-supporting model to assess structural composition and discursive elements of reflective writing. In the intervention, basic feedback was generated by a previously validated BERT-based machine learning model focusing on structural reflection elements, while elaborate feedback addressed content-related and pedagogical depth. In this study, the automated model was employed as an analytic measurement instrument drawing on validation work demonstrating its transferability across comparable reflection contexts. Quantitative analyses did not reveal systematic longitudinal growth in indicators of reflective writing quality in either cohort. Across comparable measurement points, descriptively different structural reflection profiles were observed between cohorts, without permitting causal or developmental interpretations. Feedback acceptance was high overall, although structural AI feedback was perceived as less personalized and less useful. These findings highlight the descriptive value of early, non-generative AI-based approaches for scalable structural diagnostics of reflective writing, while underscoring the continued importance of human-generated, content-focused feedback. The study establishes an empirical baseline for evaluating contemporary generative AI–based feedback systems in teacher education. Full article

Objective: This exploratory study investigated the 10-year longitudinal associations between Family Alliance (FA) in infancy and various outcomes in adolescence (e.g., psychopathological symptoms, self-esteem, life satisfaction). Background: Extensive evidence suggests that the quality of family relationships plays an important role in children’s development. However, few studies have documented this association using observational assessments of the family both in infancy and adolescence, and fewer studies have used longitudinal designs to explore these effects. Method: Using a convenience sample of N = 38 mother–father–child triads, FA was assessed in infancy (at 3, 9, and 18 months postpartum) and in early adolescence (at age 10–13). Adolescent symptoms, self-esteem, and satisfaction with life were self-reported. Results: Regression analyses showed that FA in infancy predicted neither psychopathological symptoms nor self-esteem, but it did predict scores of life satisfaction. FA in infancy and adolescence was significantly and positively associated. Conclusion: The quality of an infant’s relational environment may predict life satisfaction in adolescents. Implications: In health services, promoting family relationships of high quality in the postpartum period may have long-term effects that persist until adolescence. Full article

Background: The aims of the study were to describe facial morphology and analyze facial growth in adolescents with Robin sequence (RS) or Stickler syndrome. Methods: The facial morphology, mandibular size, and facial growth of 69 adolescents (ages 12–18) with RS were analyzed using existing cephalometric radiographs (n = 37) and photographs (n = 69). All participants were followed in our institution since birth. None underwent growth-modifying treatment for micrognathia during infancy, but all had conservative orthodontic treatment during adolescence. Results: Cross-sectional cephalometric analysis according to Tweed revealed differences in RS adolescents as compared with reference values, such as a proportionate retrusion of both jaws, as indicated by decreased SNA and SNB angles (p < 0.05). This finding was mostly associated with skeletal Class I (62.2%) and a vertical facial pattern as indicated by increased FMA and CoGoMe angles (p < 0.05). In Delaire’s analysis, patients showed decreased maxillary, maxillary alveolar (p < 0.05), and mandibular body territories (p > 0.05) but increased ramus (p > 0.05) and nasopremaxillary territories (p < 0.05). According to Ricketts’ analysis, mandibular width was decreased in half of our patients (p > 0.05). The mandibles were harmoniously downsized before and after the growth spurt (p < 0.05); however, they exhibited greater growth velocities than controls. A long-term study during puberty revealed an increase in SNB angles and a decrease in ANB angles (both p < 0.05), which improved the maxillomandibular relationship. Additionally, the vertical facial pattern attenuated (FMA, SNGoGn, and CoGoMe angles decreased; p > 0.05). On cross-sectional photographic analysis, 33.3% of patients had an orthofrontal (straight), 59.4% a cisfrontal (convex), and 7.3% a transfrontal (concave) profile. Their vertical facial proportions were normal. In the subjective profile analysis, most patients (approximately 84%) had good or acceptable profiles, with no major deficit of chin projection. The initial degree of neonatal retrognathia and type of cleft palate surgery did not affect major skeletal parameters (p > 0.05). However, the degree of neonatal functional impairment affected the vertical parameters (SNGoGn, FMA angle; p < 0.05). Conclusions: Overall, RS patients presented a bi-retrognathic profile, a normal jaw relationship, and a tendency toward a vertical growth pattern. Partial mandibular catch-up growth occurred during the pubertal growth spurt. The degree of neonatal retrognathia does not predict further mandibular growth. Full article

Background/Objectives: Congenital cytomegalovirus (cCMV) is a leading non-genetic cause of childhood sensorineural hearing loss (SNHL), characterized by heterogeneous and dynamic hearing outcomes. Hearing impairment may be present at birth or emerge later in childhood. This study aimed to characterize hearing trajectories and laterality patterns in children with cCMV, with emphasis on congenital versus delayed-onset SNHL. Methods: We conducted a retrospective study of children with confirmed cCMV who underwent longitudinal audiologic follow-up. Hearing loss was classified as congenital SNHL or delayed-onset SNHL. Better- and poorer-ear thresholds, bilateral involvement, longitudinal changes, and follow-up duration were analyzed. Results: Of 195 included children, 59 (30%) developed SNHL. Congenital SNHL was present in 34 children (17%), while delayed-onset SNHL developed in 25 of 161 children (16%) who were born with normal hearing. Of these delayed-onset cases, 20 (80%) were asymptomatic at birth, while 5 (20%) presented with non-audiological neonatal symptoms. Longitudinal observation of the delayed-onset subgroup revealed that 36 ears developed SNHL during follow-up, spanning infancy through later childhood, including one case identified in early adulthood. Better-ear thresholds were significantly better preserved in delayed-onset SNHL, while poorer-ear thresholds were comparable across groups. Children with SNHL had substantially longer follow-up duration (60 ± 44.5 months) compared with those with normal hearing (37 ± 24.4 months). Conclusions: Children with cCMV-related SNHL exhibit dynamic and asymmetric hearing trajectories with clinically relevant differences between congenital and delayed-onset SNHL. These findings underscore the necessity of a risk-stratified, long-term surveillance framework that ensures individualized long-term monitoring and promotes sustained adherence to follow-up. Full article

Background: Laryngomalacia is the most common cause of inspiratory stridor in infancy. While most mild cases resolve spontaneously, severe cases may require surgical intervention. We report a case of severe laryngomalacia successfully treated with correction of glosso-larynx (CGL), a surgical procedure originally developed for ankyloglossia with deviation of the epiglottis and larynx (ADEL). Methods: A 2-month-old infant with severe symptoms was evaluated using objective anatomical and functional metrics. The patient underwent CGL under local anesthesia to release restrictive tension on the hyoid-larynx complex. Results: The patient showed rapid and sustained improvement in respiratory symptoms. At the one-month follow-up, endoscopic examination confirmed functional airway expansion with limited to no morbidity. Conclusions: This case demonstrates that CGL may represent a feasible and minimally invasive therapeutic option for selected cases of severe laryngomalacia, particularly those involving complex tongue–larynx dynamics. Full article

The application of quantum physics principles has opened the door to a radically different way of conceiving and performing data computation. While still in its infancy, quantum computation offers the potential to efficiently solve problems that are classically considered intractable, thanks to the inherent parallelism granted by quantum effects like superposition and entanglement. The aim of this review is to discuss the potential applications of quantum computation in air transport problems by introducing its main concepts, in addition to how quantum algorithms are designed and their limitations, and then discussing solutions that have already been proposed in the literature. Finally, we draw some conclusions about the factors hindering wider application of quantum computation in air transport and sketch what the future may look like. Full article

Human sexual development begins in the prenatal period and continues throughout life, shaped by both biological and psychosocial factors. Somatic development leads to reproductive maturity through several stages regulated by the hypothalamic–pituitary–gonadal axis. Psychosexual development, described in classical theories such as Freud’s and in contemporary models, emphasizes the development of gender identity and sexual behaviors from infancy through early and middle childhood into adolescence, a period characterized by the integration of sexual and emotional components. This developmental trajectory evolves from a biologically driven process into a conscious, socially shaped phenomenon through concretization, mentalization, and socialization. To synthesize current knowledge, this paper is based on a literature review conducted across multiple databases, with studies selected and evaluated for relevance to both somatic and psychosexual development. Understanding the dynamics of these processes is essential for clinical practice, sexual education, and health prevention. It emphasizes integrated clinical practices that employ a multidisciplinary approach, incorporating both medical treatment and psychological support, particularly in the care of children and adolescents with disorders of sexual development. This article presents a comprehensive overview of human sexual development from the prenatal period through adolescence, considering its somatic and psychosexual aspects. Full article