Search Results (232)

Autosomal recessive types of both syndromic and non-syndromic inherited myopia are common in Saudi Arabia (SA) because many people marry their relatives. The prevalence of syndromic myopathies in SA, like Stickler syndrome (SS), Knobloch syndrome (KS), and Marfan syndrome (MFS), further complicates the disease spectrum. The causative genes linked to the Knobloch, Marfan, and Pierson syndromes are COL18A1, FBN1, and LAMB2, respectively. Additionally, we found recessive types of non-syndromic high myopia that have a high chance of causing retinal detachment, like those linked to LRPAP1 and LEPREL1. In these cases, regular evaluation and early intervention, including prophylactic laser photocoagulation and pars plana vitrectomy, may improve the outcome. Advancements in genetic testing for diagnosis and prevention accelerate detection, facilitate early interventions, and provide genetic counseling. The utilization of artificial intelligence (AI), machine learning (ML), and the advancement of gene therapy offer promising avenues for personalized care. We place a high value on using genetic knowledge to create a national screening program and patient registry aimed at understanding the national burden of myopia, knowing that we have a high rate of consanguinity, which reflects pathogenic homozygous alleles and founder mutations. This initiative will incorporate genetic counseling and leverage innovative technologies, which are crucial for disease management, early identification, and prevention in Saudi Arabia’s healthcare system. Full article

Background/Objectives: Lung cancer remains a major cause of cancer-related mortality, with regional differences in incidence and patient characteristics. This study aimed to verify and quantify a perceived dramatic increase in lung cancer cases at a Romanian center, identify distinct patient phenotypes using unsupervised machine learning, and characterize contributing factors, including demographic shifts, changes in the healthcare system, and geographic patterns. Methods: A comprehensive retrospective analysis of 4206 lung cancer patients admitted between 2013 and 2024 was conducted, with detailed molecular characterization of 398 patients from 2023 to 2024. Temporal trends were analyzed using statistical methods, while k-means clustering on 761 clinical features identified patient phenotypes. The geographic distribution, smoking patterns, respiratory comorbidities, and demographic factors were systematically characterized across the identified clusters. Results: We confirmed an 80.5% increase in lung cancer admissions between pre-pandemic (2013–2020) and post-pandemic (2022–2024) periods, exceeding the 51.1% increase in total hospital admissions and aligning with national Romanian trends. Five distinct patient clusters emerged: elderly never-smokers (28.9%) with the highest metastatic rates (44.3%), heavy-smoking males (27.4%), active smokers with comprehensive molecular testing (31.7%), young mixed-gender cohort (7.3%) with balanced demographics, and extreme heavy smokers (4.8%) concentrated in rural areas (52.6%) with severe comorbidity burden. Clusters demonstrated significant differences in age (p < 0.001), smoking intensity (p < 0.001), geographic distribution (p < 0.001), as well as molecular characteristics. COPD prevalence was exceptionally high (44.8–78.9%) across clusters, while COVID-19 history remained low (3.4–8.3%), suggesting a limited direct association between the pandemic and cancer. Conclusions: This study presents the first comprehensive machine learning-based stratification of lung cancer patients in Romania, confirming genuine epidemiological increases beyond healthcare system artifacts. The identification of five clinically meaningful phenotypes—particularly rural extreme smokers and age-stratified never-smokers—demonstrates the value of unsupervised clustering for regional healthcare planning. These findings establish frameworks for targeted screening programs, personalized treatment approaches, and resource allocation strategies tailored to specific high-risk populations while highlighting the potential of artificial intelligence in identifying actionable clinical patterns for the implementation of precision medicine. Full article

Background/Objectives: Recruiting and retaining low-income participants in community-based diabetes interventions remains a persistent challenge, particularly in medically underserved areas. This study describes engagement strategies and lessons learned recruiting for a 12-month pilot of a community-based, medically tailored nutrition program for diabetes remission and weight loss. Methods: A descriptive, exploratory mixed-methods study was performed to assess the effectiveness of recruitment and engagement strategies in the HEAL Diabetes program and identify areas for improvement. Recruitment and enrollment data were tracked utilizing recruitment logs and field notes. Descriptive statistics were used to analyze recruitment activity and retention rates, while qualitative analysis of fieldnotes identified key barriers and facilitators. Results: Among 83 eligible participants, 63 (75.9%) completed the in-person screening and 35 (55.6% enrollment rate) enrolled. Retention was high, with 30 completing the study. Participants were largely African American (97.1%), female (70.6%), average age of 59.8 years, with a household income below USD 49,000 (74.3%). Recruitment cycles achieved 87.5% of the target before budget constraints halted enrollment. Recruitment was hindered by limited clinical integration, social barriers and life demands, while facilitators to recruiting included trust, flexibility, and tangible support for participation. Conclusions: Conventional recruitment methods, including registry-based approaches, were insufficient for engaging underserved populations. Participant-centric strategies, emphasizing trust, practical support, and structural and cultural relevance, can help enhance enrollment and retention. Effective engagement in community-based diabetes interventions requires multifaceted approaches that address clinical, social, and structural barriers to participation. Full article

In Brazil, dried blood spots (DBSs) for newborn screening (NBS) should be collected between the 3rd and 5th days of life at local Basic Health Units (BHUs). This study reports the experience of face-to-face training at BHUs in southern Brazil during a pilot study for tandem mass spectrometry (MS/MS) inclusion in the NBS program. The pilot project involved screening for 22 inborn errors of metabolism (IEMs). The professionals at the BHUs were instructed to carry out the following: (a) explain the study to parents or guardians; (b) collect additional DBS samples on a different collection card (research card); and (c) deliver results to families. In-person visits were conducted at all 137 BHUs. These visits included an overview of the pilot project and distribution of educational materials, including a list of the 22 IEMs and informational leaflets on MS/MS-based NBS. Among the 486 healthcare professionals who participated, 91.2% were women. Overall, 97.1% of the BHUs reported being satisfied with the project. Questions regarding IEMs were raised in 40.1% of BHUs, and 13.1% reported complaints about the research card due to its lighter texture and drying difficulty. Training primary healthcare professionals in IEMs remains an urgent priority in Brazil, particularly in the context of expanded NBS using MS/MS, since they are the frontline professionals in the NBS program. Full article

Scoliosis is one of the most common spinal deformities, which affects millions of people worldwide. Bracing and physiotherapy exercises represent the first-line, non-invasive approaches for managing scoliosis. In recent years, the use of wearable devices has spread as a novel approach to the treatment of scoliosis. However, their effectiveness in treatment planning and outcomes has not been thoroughly evaluated. This manuscript provides a scoping review of the classification and application of wearable devices and the role of artificial intelligence (AI) in interpreting the data collected by wearable devices and guiding the treatment. A systematic search was carried out on Scopus, Web of Science, PubMed, and EMBASE for studies published between January 2020 and February 2025. A total of 269 studies were screened, and 88 articles were reviewed in depth. Inclusion criteria encompassed articles focusing on wearable devices integrated into smart braces, rehabilitation systems for scoliosis management, AI and machine-learning (ML) applications in scoliosis treatment, virtual reality (VR), and telemedicine for scoliosis care. The literature shows that the use of wearable devices can enhance scoliosis treatment by improving the efficiency of braces and enabling remote monitoring in rehabilitation programs. However, more research is needed to evaluate user compliance, long-term effectiveness, and the need for personalized interventions. Future advancements in artificial intelligence, microsensor technology, and data analytics may enhance the efficacy of these devices, which can lead to more personalized and accessible scoliosis treatment. Full article

This study reframes closure intention in small- and medium-sized enterprises (SMEs) as an ex ante diagnostic signal rather than a post-mortem symptom of failure. The survey evidence from 385 Ecuadorian SMEs was analyzed in two stages; confirmatory factor analysis validated the scales capturing environmental pessimism and personal pressures, and a structural equation model confirmed that both latent constructs directly heighten exit propensity. A binomial logistic regression model correctly classified 71% of the cases and explained 30% of variance. Five variables proved decisive: low-level liquidity (OR = 0.84), a high debt-to-equity ratio (1.41), weak profitability (0.14), negative environmental perceptions (1.72), and a shorter operating tenure (0.91); the sector and the firm size were non-significant. The combined CFA-SEM-logit sequence yields practical early warning thresholds—debt-to-equity ratio > 1.4, current ratio < 1.0, and ROA < 0.15—that lenders, advisers, and entrepreneurs can embed in dashboards or credit screens. Recognizing closure intention as a rational, strategic step challenges the stigma surrounding exit and links financial distress and the strategic exit theory. Policymakers can use the findings to pair debt relief and liquidity programs with cognitive bias training that helps owners interpret risk signals realistically. For scholars, the results highlight closure intention as a dynamic learning process, especially pertinent in emerging economies characterized by informality and institutional fragility. Full article

Background/Objectives:Breast and cervical cancer screening programs are essential for early detection and timely treatment, yet participation rates remain suboptimal. Within a patient-centered care approach, engagement is increasingly viewed as a dynamic and emotionally grounded process. The literature conceptualizes three phases of engagement in healthcare decision-making: ‘recruit’, ‘retain’, and ‘sustain’. When these phases intersect with the structured pathway of cancer screening, they generate specific meaning-making challenges that shape how women relate to prevention and care. This study adopts the lens of Iterative Situated Engagement (ISE) to explore how women experience and negotiate these challenges, differentiating them across the three engagement phases. Methods: A theory-driven qualitative design was adopted. Data were collected through semi-structured interviews with 40 women aged 25–69 years participating in public breast and cervical cancer screening programs. Thematic analysis was conducted using the Framework Method. Results: In the ‘recruit’ phase, engagement was driven by Cancer Risk Monitoring, Self-care Motivation, Fear of Death Management, and Coincidence. The ‘retain’ phase emphasized Trust in Healthcare Providers, Accessibility of Services, Recurrent Invitations, and Informal Result Previews. About the ‘sustain’ phase, Continuity of Healthcare Providers, Driving Best Practices Dissemination, Flexible Organization of Healthcare Services, and Shorter Waiting Times for Results were highlighted as key factors in maintaining engagement over time. Conclusions: Women’s engagement in cancer screening emerges as a dynamic, multi-phase process shaped by psychological, emotional, and organizational levels. These findings contribute to the development of the ISE conceptual proposal, which frames participation as an iterative, situated, and meaning-making trajectory. Strengthening personalized health communication and improving the coordination of primary care services could enhance sustained participation in screening programs, supporting strategies to reduce health disparities and promote preventive practices. Full article

Ductal carcinoma in situ (DCIS) is the most common form of non-invasive breast cancer and a recognized precursor to invasive ductal carcinoma (IDC). Although DCIS itself is confined to the milk duct and not immediately life-threatening, its potential for progression to invasive disease necessitates careful clinical management. The increased detection of DCIS due to advancements in imaging and widespread screening programs has raised critical questions regarding its classification, prognosis, and optimal treatment strategies. While most cases exhibit indolent behavior, others harbor molecular characteristics that drive malignant transformation. A key challenge lies in distinguishing low-risk DCIS, which may never progress, from aggressive cases requiring intervention. Tumor microenvironment dynamics, immune cell infiltration, and molecular alterations, including hormone receptor (HR) status, human epidermal growth factor 2 (HER2) expression, and genetic mutations, play crucial roles in determining disease trajectory. This review explores the biological and molecular mechanisms underlying DCIS progression, with an emphasis on myoepithelial cells, tumor-infiltrating lymphocytes, and microenvironmental factors. By integrating recent findings, this article aims to refine risk stratification approaches and guide future strategies for personalized DCIS management. Improved prognostic biomarkers and targeted therapeutic interventions could help optimize treatment decisions, balancing the need for effective cancer prevention while minimizing overtreatment in low-risk patients. Full article

Background: Colorectal cancer (CRC), the most common malignancy of the gastrointestinal tract, is the second leading cause of cancer-related deaths worldwide. In this context, investigating low-penetrance gene variants associated with the increased risk of CRC represents a novel and crucial approach to enhancing prevention strategies and clinical surveillance. By focusing on these genetic variants, there is potential for more accurate prediction of individual CRC risk, which could contribute to the refinement of current screening and prophylactic programs. The aim of this case–control study was to explore the association between SIRT1 polymorphisms and CRC risk. Methods: We analyzed three SNPs—rs12778366 (T/C), rs3758391 (C/T), and rs7895833 (A/G)—in the promoter region of the SIRT1 gene, which may influence SIRT1 expression and thus play a role in cancer development. Our study included 200 patients with colorectal adenocarcinoma and 115 controls. Genomic DNA was extracted from blood samples, and SIRT1 SNP analysis was performed using the qPCR method and endpoint genotyping. Results: Univariate regression analysis revealed a slightly increased risk of developing CRC in individuals with minor alleles of the analyzed polymorphisms; however, the observed differences were not statistically significant. Conclusions: Although our findings did not reveal statistically significant differences in SIRT1 gene polymorphism frequencies between the CRC group and the control group, we observed a tendency that suggests further investigation in larger cohorts is warranted. This research underscores the importance of understanding low-penetrance genetic factors in CRC, highlighting their potential to inform more personalized and effective prevention strategies. Full article

Background: Colorectal cancer (CRC) remains one of the leading causes of cancer-related mortality worldwide, with growing evidence linking risk to lifestyle and dietary factors. However, nutrition-related exposures have rarely been integrated into existing CRC risk prediction models. This study aimed to develop and validate a lifestyle-based 10-year CRC risk prediction model using longitudinal data from a large-scale population-based screening cohort to facilitate early risk stratification and personalized screening strategies. Methods: Data were obtained from 21,358 individuals participating in a CRC screening program in Shanghai, China, with over 10 years of active follow-up until 30 June 2021. Of these participants, 16,782 aged ≥40 years were used for model development, and 4576 for external validation. Predictors were selected using random survival forest (RSF) and elastic net methods, and the final model was developed using Cox regression. Machine learning approaches (RSF and XGBoost) were additionally applied for performance comparison. Model performance was evaluated through discrimination, calibration, and decision curve analysis (DCA). Results: The final model incorporated twelve predictors: age, gender, family history of CRC, diabetes, fecal immunochemical test (FIT) results, and seven lifestyle-related factors (smoking, alcohol use, body shape, red meat intake, fried food intake, pickled food intake, and fruit and vegetable intake). Compared to the baseline demographic-only model (C-index = 0.622; 95% CI: 0.589–0.657), the addition of FIT improved discrimination, and further inclusion of dietary and lifestyle variables significantly enhanced the model’s predictive accuracy (C-index = 0.718; 95% CI: 0.682–0.762; ΔC-index = 0.096, p = 0.003). Conclusions: Incorporating dietary and lifestyle variables improved CRC risk stratification. These findings highlight the value of dietary factors in informing personalized screening decisions and providing an evidence-based foundation for targeted preventive interventions. Full article

Background/Objectives: High-quality healthcare delivery relies on a on a sustainable nursing workforce. However, rising attrition rates and declining enrollment in nursing programs pose a significant challenge. A comprehensive synthesis of these factors for student attrition alongside effective retention strategies is needed to guide interventions. The aim of this scoping review is to map and synthesize existing evidence on the factors contributing to attrition among bachelor’s nursing students and to identify strategies that have been implemented or proposed to improve student retention in undergraduate nursing programs. Methods: Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA 2020) Checklist and Joanna Briggs Institute (JBI) guidelines, a systematic search was conducted in the following databases: MEDLINE/PubMed, Embase, Web of Science, PsycInfo, CINAHL, and Ovid. This review included peer-reviewed, English-language empirical studies (2010–December 2024) on attrition, dropout, or retention among bachelor-level nursing students, excluding non-nursing, non-bachelor programs, and unpublished studies or studies without primary data. A structured content analysis approach was used to synthesize findings from both qualitative and quantitative studies. Results: After screening titles, abstracts, and full texts, 19 articles were found eligible for inclusion. Analyses of the included studies revealed four key themes contributing to nursing student attrition: academic factors, institutional and social support, personal factors, and economic challenges. Retention strategies were categorized into two overarching themes: academic and non-academic approaches. Conclusions: Bachelor’s nursing programs should adopt retention strategies that enhance institutional and social support to reduce attrition. Strengthening supportive environments alongside curricular reform is key to building a resilient nursing workforce and ensuring quality care. Full article

Cervical cancer is a significant global health challenge, ranking as the fourth most common malignancy in women worldwide (age-standardized incidence: 13.3/100,000). In the UK, prevalence is markedly lower (7.6/100,000) compared to global averages, attributable to successful HPV vaccination and screening programs. post-treatment follow-up is critical for monitoring recurrence, managing complications, and addressing survivors’ psychosocial needs. However, follow-up care lacks standardization, especially for advanced-stage cervical cancer. This narrative review critically assesses existing guidelines, practices, and innovative approaches to follow-up care post-cervical cancer treatment, identifying inconsistencies and offering recommendations for standardization. This review synthesizes recommendations from 12 guidelines (NCCN, ASTRO, ESGO, BSCCP, BGCS, and ESMO) to evaluate follow-up strategies for cervical cancer survivors. Emerging evidence supports risk-stratified approaches combining Patient-Initiated Follow-Up (PIFU) for low-risk patients with intensive imaging (PET/CT/MRI) for advanced stages. Psychosocial interventions, particularly for sexual health and return-to-work challenges, remain underutilized despite ESGO recommendations. Follow-up recommendations vary significantly, focusing on clinical examination and symptom-based imaging. Patient-Initiated Follow-Up (PIFU) is a growing trend, though concerns persist regarding its appropriateness for high-risk groups. Most recurrences are symptomatic, supporting less-intensive protocols for low-risk patients. Imaging methods like FDG PET/CT provide prognostic insights but are not universally adopted. Psychosocial and psychosexual care needs remain under addressed. Standardized, evidence-based follow-up protocols are essential to address disparities in survivorship care. Holistic strategies incorporating psychosocial support and tailored plans will ensure comprehensive care. This is the first review to integrate NCCN imaging standards with ESGO psychosocial care in a risk-stratified model. Future research should refine PIFU models and imaging strategies to balance resource use with quality care. Critical clinical implications emerge: (1) Risk-stratified follow-up reduces unnecessary imaging by 31% (95% CI 24–38%) in low-risk patients while maintaining 98% 5-year survival; (2) mandatory psycho-oncology referrals (per ESGO guidelines) lower depression rates by 58% (OR 0.59); (3) PET/CT should be reserved for stage IIB+ patients with symptoms, saving EUR 2300 per avoided scan. These evidence-based thresholds enable personalized survivorship care. Full article

Background/Objectives: Previous research has shown that listeners may use acoustic cues for speech processing that are perceived during brief segments in the noise when there is an optimal signal-to-noise ratio (SNR). This “glimpsing” effect requires higher cognitive skills than the speech tasks used in typical audiometric evaluations. Purpose: The aim of this study was to investigate the use of an online test of speech processing in noise in listeners with typical hearing sensitivity (TH, defined as thresholds ≤ 25 dB HL) who were asked to determine the gender of the subject in sentences that were presented in increasing levels of continuous and interrupted noise. Methods: This was a repeated-measures design with three factors (SNR, noise type, and syntactic complexity). Study Sample: Participants with self-reported TH (N = 153, ages 18–39 years, mean age = 20.7 years) who passed an online hearing screening were invited to complete an online questionnaire. Data Collection and Analysis: Participants completed a sentence recognition task under four SNRs (−6, −9, −12, and −15 dB), two syntactic complexity settings (subjective-relative and objective-relative center-embedded), and two noise types (interrupted and continuous). They were asked to listen to 64 sentences through their own headphones/earphones that were presented in an online format at a user-selected comfortable listening level. Their task was to identify the gender of the person performing the action in each sentence. Results: Significant main effects of all three factors as well as the SNR by noise-type two-way interaction were identified (p < 0.05). This interaction indicated that the effect of SNR on sentence comprehension was more pronounced in the continuous noise compared to the interrupted noise condition. Conclusions: Listeners with self-reported TH benefited from the glimpsing effect in the interrupted noise even under low SNRs (i.e., −15 dB). The evaluation of glimpsing may be a sensitive measure of auditory processing beyond the traditional word recognition used in clinical evaluations in persons who report hearing challenges and may hold promise for the development of auditory training programs. Full article

Background: Chronic obstructive pulmonary disease (COPD) and lung cancer are the leading causes of death globally, which share common risk factors such as age and smoking exposure. In high-income countries, low-dose computed tomography (LDCT) lung cancer screening programs have decreased lung cancer mortality and facilitated the detection of emphysema, a key radiological indicator of COPD. This study aimed to assess the prevalence of emphysema during a pilot LDCT screening program for lung cancer in a middle-income country with a high smoking prevalence. Methods: A secondary analysis of the Lung Cancer Screening Database of the Autonomous Province of Vojvodina, Serbia, from 20 September 2020 to 30 May 2022. Persons aged 50–74 years, with a smoking history of ≥30 pack-years/or ≥20 pack-years with additional risks (chronic lung disease, prior pneumonia, malignancy other than lung cancer, family history of lung cancer, and professional exposure to carcinogens) were offered LDCT. Results: Of 1288 participants, mean age of 62.1 ± 6.7 years and 535 males (41.5%), 386 (30.0%) had emphysema. The majority of patients with emphysema (301/386, 78.0%) had no prior history of chronic lung diseases. Compared to the patients without emphysema, the patients with emphysema reported more shortness of breath (140/386, 36.3% vs. 276/902, 30.6%, p = 0.046), chronic cough (117/386, 30.3% vs. 209/902, 23.17% p = 0.007), purulent sputum expectoration (70/386, 18.1% vs. 95/902, 10.53%, p < 0.001), and weight loss (45/386, 11.7% vs. 63/902, 7.0%, p = 0.005). The patients with emphysema had more exposure to smoking (pack/years, 43.8 ± 18.8 vs. 39.3 ± 18.1, p < 0.001) and higher prevalence of solid or semisolid lung nodules (141/386, 36.5% vs. 278/902 30.8%, p = 0.04). Conclusions: Almost one-third of the patients who underwent the LDCT screening program in a middle-income country had emphysema that was commonly undiagnosed despite being associated with a significant symptom burden. Spirometry screening should be considered in high-risk populations. Full article

Women with schizophrenia have distinct health and social needs compared to men. The Mutua Terrassa Functional Unit for Women with Schizophrenia has designed a new intervention called the Community Therapeutic Space (CTS), which is based on individual and group interventions focused on physical and mental health, and social factors. We carried out a narrative review focusing on green and blue spaces, climate change, light, digitalization and health, and gynecological screening in women with schizophrenia, to propose content for seven topics of the CTS. The personalized space offers individual appointments with mental health professionals with particular attention to pharmacological and social issues. The health space focuses mainly on groups of healthy habits, and links women to community activities. The interaction space focuses mainly on social connections, and the connection with nature. The content of these three spaces has been divided into seven colors: green and blue corners (related to green and blue spaces), red corner (climate change), yellow corner (light and health), white corner (mainly focused on mindfulness), black corner (digitalization in healthcare), and purple corner (related to gynecological screening). In the future, peer-to-peer and volunteer programs may help our healthcare unit to ensure and maintain the positive effects of these interventions. Full article