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The Rheumatic Manifestations in Patients with Combined Immunodeficiency.1 week agoCombined immunodeficiencies (CIDs) represent a rare group of inherited immune disorders in which defects in T- and B-lymphocyte function lead to recurrent infections, immune dysregulation, and an increased tendency toward autoimmune and rheumatologic complications. A retrospective cross-sectional analysis was performed on 150 patients with CID, diagnosed according to the European Society for Immunodeficiencies (ESID) criteria and followed at the Children's Medical Center and Mofid Children's Hospital (Tehran, Iran) between 2009 and 2020. Clinical records, immunologic evaluations, and rheumatologic findings were reviewed, with particular attention to autoantibody detection and disease frequency. Among 150 patients, 42 (28%) exhibited rheumatologic manifestations, with a higher frequency in females. Undifferentiated rheumatoid arthritis, undifferentiated juvenile idiopathic arthritis, and Kawasaki disease were the predominant conditions. Although lower lymphocyte counts and immunoglobulin levels were observed among non-rheumatologic patients, the differences were not statistically significant. Impairments in T-cell-mediated immunity and antibody synthesis among individuals with CID hinder the recognition of autoantibody-associated rheumatologic disorders and delay diagnosis. Moreover, these conditions often present atypically in immunocompromised hosts; therefore, a vigilant clinical approach is essential for early identification and management.Non-Communicable DiseasesAccessCare/ManagementAdvocacy
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Towards meaningful engagement: theoretical approaches guiding the participation of people living with multiple long-term conditions in health research - a scoping review.1 week agoThe rising prevalence of multiple long-term conditions (MLTCs), largely driven by non-communicable diseases (NCDs), presents complex healthcare challenges. Evidence suggests that meaningful engagement of people with lived experience can improve intervention relevance, health outcomes and equity. Theories, frameworks and models (TFMs) may provide structured approaches to support such engagement among people living with MLTC (PLwMLTC).
To identify TFMs informing engagement strategies for PLwMLTC.
Scoping review followed the Arksey and O'Malley and Levac et al methodological frameworks and reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews guidelines.
PubMed, Scopus, CINAHL and Embase databases were searched on 20 December 2024 without date restrictions.
Studies describing TFMs adopted to support engagement and involvement of PLwMLTC and community members.
Data were extracted using a predefined charting form and synthesised narratively.
Of 756 articles screened, 25 met inclusion criteria. Commonly adopted TFMs included the Chronic Care Model, Collaborative Care Model, Health Belief Model, Transtheoretical Model, Patient-Centred Medical Home, Improving Mood-Promoting Access to Care Model and Patient-Centred Care Model. These TFMs facilitated meaningful engagement through patient education, behaviour change programmes, community-based care, peer support and coordinated provider-patient interactions. Evidence linked several TFMs to improvements in clinical outcomes (eg, blood pressure and depression), while others primarily influenced sociobehavioural dimensions. Persistent challenges concerned heterogeneity in integrating engagement within health systems and limited evidence on contextual adaptation across diverse settings, particularly in relation to NCD-driven MLTC.
TFMs provide structured approaches to engage PLwMLTC meaningfully, through behaviour change strategies, multidisciplinary care coordination and community network strengthening. Effective implementation relies on ensuring cultural relevance and alignment with local health system capacities. Future research should focus on adaptation, implementation, sustainability, scalability and equity across diverse settings.Non-Communicable DiseasesAccessCare/Management -
Integrating non-communicable disease screening to COVID-19 and human immunodeficiency virus care in Johannesburg South Africa: a pilot model for low- and middle-income countries.1 week agoThe COVID-19 pandemic underscored the relationship between infectious diseases and non-communicable diseases (NCDs), highlighting increased risks for people with pre-existing chronic conditions. This study piloted an integrated care model for NCD and infectious disease screening in healthcare settings. The aim of this study is to show that integrating NCD screening into existing HIV clinics and COVID-19 vaccine delivery clinics leads to better pandemic preparedness.
From October 2023 to December 2023, we conducted a cross sectional prospective, low interventional study involving 461 participants from two health care clinics in Johannesburg, South Africa using convenience sampling. Screening included blood pressure, body mass index (BMI), HbA1c, lipid profile, glucose, and kidney function assessments. Data were analyzed to identify NCD prevalence and key risk factors.
Newly diagnosed NCDs were found in 73.9% of participants. The most common were kidney disease (31.7%), obesity (28.9%), and dyslipidaemia (25.8%). Modifiable cardiovascular disease (CVD) risk factors, including obesity (63.9%) and alcohol use (50%), were widespread.
Integrating NCD screening into HIV and COVID-19 services is achievable, offers a valuable opportunity for early detection and intervention. Scaling such models could strengthen health systems in resource-limited settings.Non-Communicable DiseasesChronic respiratory diseaseCardiovascular diseasesAccessCare/ManagementAdvocacy -
Health system governance and pharmaceutical policy in Australia and Qatar: a comparative overview of access, reform, and equity.1 week agoThis commentary contrasts the healthcare systems in Australia and Qatar, emphasising how each nation addresses shifting health policy priorities amid demographic pressures, financing reforms, and pharmaceutical challenges. Australia, with its established Medicare system and institutionalised Health Technology Assessment (HTA), continues to face issues related to equity, rural access, and the demands associated with an aging population. In contrast, Qatar is actively reforming its healthcare infrastructure to support a young and diverse expatriate-majority population, with increasing investments in insurance coverage, HTA integration, and private sector participation. Despite their differing levels of system maturity and population needs, both countries are tackling common issues: the rising burden of non-communicable diseases, cost pressures from innovative treatments, and the necessity of aligning expenditures with measurable health outcomes. The commentary highlights value-based healthcare as a shared goal while critically assessing the impact of pharmaceuticals, data infrastructure, and stakeholder engagement in promoting sustainable and equitable access. By integrating insights and policy reflections within a comparative framework, this commentary identifies opportunities for cross-national learning and outlines potential directions for future research and practice.Non-Communicable DiseasesAccess
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Repositioning oral health within DOHaD: linking early childhood caries to life-course NCD prevention.1 week agoThe Developmental Origins of Health and Disease (DOHaD) paradigm has transformed our understanding of how early-life biological and social environments shape lifelong health trajectories. While DOHaD research across Oceania has focused primarily on metabolic, cardiovascular, and nutritional outcomes, oral health, particularly early childhood caries (ECC), remains largely absent from life course research and policy despite its early onset, shared risk factors with childhood obesity and other noncommunicable diseases (NCDs), and strong social and intergenerational patterning. This conceptual paper synthesises the DOHaD paradigm, First 1000 Days approaches, common risk factor theory, and Pacific relational worldviews to propose a Pacific-centred framework that explicitly integrates oral health. Using the Cook Islands as a regional exemplar, the paper demonstrates how oral health can be aligned with existing maternal and child health, nutrition, and NCD policy priorities. The proposed framework reframes ECC as both a biologically embedded developmental outcome and an early indicator of broader NCD risk trajectories. It highlights the interconnected influence of biological, family, community, health system, and policy environments on oral health across the life course. Integrating oral health within a Pacific centred DOHaD framework addresses an important gap in research and policy and provides a culturally grounded and policy relevant model to strengthen early-life prevention, improve health equity, and guide future research and implementation across Oceania.Non-Communicable DiseasesCardiovascular diseasesAccessAdvocacy
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A Facial Foundation Model for Clinical Biomarker Prediction and Real-World Mobile Deployment.1 week agoWhile most biomarkers currently rely on invasive laboratory testing, which limits large-scale or repeated screening, scalable non-invasive methods could transform population screening and personalized health management. Facial photographs, as a ubiquitous and non-invasive data source, offer such potential but remain underexplored for clinical biomarker prediction. Existing supervised approaches are constrained by the availability of clinically labeled data, whereas general-purpose vision models are optimized for non-clinical tasks and may inadequately capture subtle, multiscale, and spatially distributed clinical facial features. To address these limitations, we developed MedicalFaceFound, a facial foundation model pretrained on over 10 million images and evaluated across 62 biomarkers spanning eight physiological systems. It performed best among the Swin-Large and ResNet18 for 45 (73%) biomarkers and generalized across four independent external cohorts (median Pearson's r = 0.172), with strong performance for RBC, eGFR, and HDL-C (median r = 0.478, 0.442, and 0.430, respectively). MedicalFaceFound also outperformed polygenic risk score models for 14 of 26 biomarkers, and face-estimated cardiovascular biomarkers were strongly associated with coronary stenosis (AUC = 0.66). The model retained predictive performance with 400 labeled samples and was feasible to deploy as a smartphone application, supporting scalable, non-invasive biomarker assessment and personalized risk screening.Non-Communicable DiseasesCardiovascular diseasesAccessCare/Management
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Correction to: Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta‑Analysis.1 week agoNon-Communicable DiseasesCare/Management
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Evaluation of Regulatory B10 Cells in Common Variable Immunodeficiency Patients with and without Autoimmunity.1 week agoCommon variable immunodeficiency disease (CVID) is the most prevalent symptomatic inborn errors of immunity, determined by defective B cell function, impaired antibody production, and susceptibility to frequent respiratory infections, enteropathy, autoimmunity, and malignancy. Due to the importance of autoimmunity in CVID and the probable role of regulatory B lymphocytes, we aimed to determine the frequency of B10 cells in CVID patients with and without autoimmunity. A total of 24 CVID patients and 12 healthy controls were enrolled in the study. Patients were divided into two equal groups, with and without autoimmunity. Peripheral blood cells were stained with monoclonal antibodies (mAbs) to identify CD24hiCD38hi B cells, CD27int CD38+ (plasmablasts), and CD24hiCD27+ B cells by flow cytometry. The percentages of B10, CD24hiCD27+ and CD27int CD38+ cells were significantly lower in total CVID patients, CVID patients with autoimmunity and CVID patients without autoimmunity compared to healthy controls (mean±standard deviation (SD) percentage of B10 cells: 6.36±9.21(total CVID), 2.81±5.00 (CVID with autoimmunity), and 3.25±3.5 (CVID without autoimmunity) vs. 13.02±12.45 (healthy controls); CD24hiCD27+ cells: 2.39±3.89, 3±5.20 and 1.78±1.94 vs. 20.38±14.27; CD27int CD38+ cells: 6.80±18.49, 7.40±20.24 and 6.20±17.45 vs. 11.84±5.71). CVID patients without autoimmunity had a higher percentage of CD24hiCD38hi cells than CVID patients with autoimmunity (4.73±4.14 vs. 2.62±5.02). The defect of regulatory B cells plays a significant role in the pathogenesis of autoimmunity in CVID. Further multicenter studies with higher sample sizes are suggested to determine the role of Breg cells in the clinical course of autoimmunity.Non-Communicable DiseasesCare/Management
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Dietary amino acid patterns and epilepsy among the PERSIAN cohort population: A cross-sectional study.1 week agoEpilepsy is characterized by the occurrence of at least two unprovoked seizures occurring more than 24 h apart, reflecting a predisposition to recurrent epileptic events. The role of dietary amino acids (AAs) in epilepsy is not clearly understood. To the best of our knowledge, this study is the first to investigate the link between the odds of developing epilepsy and dietary AA patterns. This cross-sectional study, derived from the Prospective Epidemiologic Research Studies in Iran (PERSIAN) Sabzevar Cohort Study, included 112 individuals diagnosed with prevalent epilepsy and 3951 participants without epilepsy. Dietary intake was estimated using a validated semi-quantitative food frequency questionnaire. Principal component analysis was applied to identify two distinct dietary AA patterns: one predominantly derived from animal sources and the other from plant food sources. Participants with epilepsy were more likely to be male, have lower levels of education, be married, be unemployed and also to exhibit lower intakes of all assessed AAs. In the fully adjusted model, no significant association was observed between the animal AA pattern and the odds of having epilepsy (odds ratio (OR) (Q4 vs. Q1): 0.62, 95% CI: 0.35-1.08, P = 0.094), although the P-value for trend across quartiles was statistically significant (Ptrend = 0.002). By contrast, higher adherence to the plant AA pattern was associated with 63% lower odds of having epilepsy (OR (Q4 vs. Q1): 0.37, 95% CI: 0.20-0.67, P = 0.001). The P-value for trend across quartiles was significant (Ptrend = 0.001). In conclusion, greater adherence to the plant-based AA pattern was associated with lower odds of having epilepsy. These findings may inform dietary strategies, but prospective studies are needed to determine whether these associations reflect a causal relationship.Non-Communicable DiseasesCare/Management
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The Synergistic Role of Curcumin and L-Carnitine in Mitigating Cryo-preservation-Induced Damage in Human Sperm.1 week agoSperm cryopreservation serves as a vital technique in assisted reproductive technologies and the preservation of male fertility; however, this process often leads to a marked decline in sperm quality. Using exter-nal antioxidants to counteract the buildup of free radicals during cryopreservation has proven to be an effective ap-proach for improving sperm quality after thawing. This study aimed to evaluate the combined effect of Curcumin and L-carnitine on human sperm motility, viability, mor-phology, DNA integrity, and lipid peroxidation following cryopreservation.
Forty semen samples from normozoosper-mic men were divided into four groups: control, Curcum-in (20μm), L-carnitine (100μm), and a combination group (Curcumin + L-carnitine). Samples were cryopreserved for one week and subsequently thawed at 37∘C for 5 minutes. Post-thaw analysis included assessment of sperm motility (using CASA), viability (eosin-nigrosin staining), morphol-ogy, DNA fragmentation (TUNEL assay), and malondialde-hyde (MDA) levels (TBARS assay).
Both Curcumin and L-carnitine treatments significantly improved sperm motility and viability com-pared to the control group (p<0.01). The combination group exhibited the highest levels of motility and the low-est levels of MDA and DNA fragmentation, indicating supe-rior protection against oxidative stress and DNA damage. No significant differences were observed in sperm mor-phology across the groups.
Supplementation with Curcumin and L-carnitine during sperm cryopreservation enhances post-thaw sperm quality, particularly improving motility and preserving DNA integrity. Further studies evaluating func-tional outcomes are necessary before clinical application.Non-Communicable DiseasesCare/Management