• Dental Rehabilitation with Implants in a Pediatric Patient with Ectodermal Dysplasia.
    3 weeks ago
    The purpose of this report is to describe a seven year-old boy diagnosed with hypohidrotic ectodermal dysplasia who was rehabilitated with dental implants and partial removal prosthesis. The patient had only three dental elements: primary maxillary right first molar and primary maxillary right and left canines. The patient underwent treatment under general anesthesia in a hospital setting. Two dental implants were placed in the mandibular arch to support a dental prosthesis. Due to the COVID-19 pandemic, there was a prolonged period before continuing with the rehabilitative phase. Upon resumption, peri-implant mucositis was observed. Through professional and home plaque control measures, peri-implant tissue health was restored. A removable prosthesis was fabricated for the maxillary arch and O-ring attachments were used for the mandibular prosthesis. Given the patient's growth, prostheses may need to be replaced approximately every six months until growth is complete.
    Chronic respiratory disease
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  • Precision metagenomics reveals microbial landscape in acute upper respiratory infections: a comprehensive dataset.
    3 weeks ago
    The comprehension of the microbial composition in upper respiratory tract infections is pivotal for the progression of diagnostic and treatment methodologies. This article presents a dataset derived from Precision Metagenomic next-generation sequencing using hybridization capture-based targeted sequencing. Nasopharyngeal samples from 24 patients with acute URIs were analyzed using the Illumina®/IDbyDNA Respiratory Pathogen ID/AMR panel. The dataset contains a wealth of information on the composition of the microbiota, including the relative abundance of known pathogens and their potential clinical significance.

    This dataset serves as a valuable asset for future research in respiratory medicine, infectious disease epidemiology, antimicrobial resistance detection, and therapeutic interventions. Its potential for reuse and integration with other omics datasets enhances its significance. The comprehensive nature of the data facilitates research into relationships between the respiratory microbiota and host factors, including clinical outcomes, immune responses, or genetic predispositions. Moreover, the article underscores the interdisciplinary potential by advocating for the integration of this dataset with other relevant datasets such as transcriptomics or metabolomics, enabling a deeper understanding of the intricate interactions in acute upper respiratory infections. The presented dataset contributes to the expanding knowledge in precision metagenomics and holds the promise to propel research and clinical practices in the field of respiratory diseases.
    Chronic respiratory disease
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  • Genetic mechanisms of pollinosis: interactions between genes and environmental factors.
    3 weeks ago
    Pollinosis, or pollen-induced allergic rhinitis, results from complex interactions among genetic susceptibility, environmental exposures, and epigenetic regulation. Risk variants within Th2 signaling and IgE regulatory pathways (e.g., IL13, IL4R, ADAM33) have been identified, while genome-wide association and transcriptomic analyses implicate additional genes involved in immune regulation and epithelial barrier integrity. Environmental factors such as urbanization, pollen burden, and air pollution further amplify disease risk, partly through epigenetic modifications.

    This narrative review synthesizes evidence from candidate-gene studies, genome-wide association studies (GWAS), transcriptomic datasets, and epigenetic investigations, with particular emphasis on gene-environment interactions in pollen-induced allergic rhinitis. We highlight replicated findings, compare results across study designs and populations, and critically appraise the strength of evidence and methodological limitations.

    Convergent data support the contribution of Th2-related and IgE-regulatory loci, alongside additional GWAS-implicated genes, to pollinosis susceptibility. Transcriptomic and epigenomic studies reveal dysregulated immune pathways and environmentally induced DNA methylation and chromatin changes. However, replication across ancestries is limited, variant-to-function mechanisms remain incompletely defined, and current polygenic risk scores explain only a modest proportion of disease variance. Integration of environmental metrics such as pollen load and air pollution into genetic and epigenetic models is still at an early stage.

    Bridging molecular discoveries with environmental and clinical contexts is essential to advance precision prevention and personalized management of pollinosis. Future work should focus on fine-mapping with tissue-specific colocalization, seasonal single-cell multi-omics, and quantitative models that combine genetic risk with real-time exposure data. Clinically, polygenic risk stratification and individualized immunotherapy hold promise, but their predictive performance, feasibility, and cost-effectiveness require validation in large, ancestrally diverse cohorts.
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  • Multiplex PCR Pneumonia Panel compared to Standard Culture of Respiratory specimens: Retrospective Results from a Transplant Centre.
    3 weeks ago
    Rapid identification of lower respiratory tract infection (LRTI) pathogens is critical for initiating early antimicrobial therapy. This study aimed at evaluating the role of multiplex polymerase chain reaction (mPCR) in detecting respiratory pathogens and antimicrobial resistance (AMR) at a transplant center.

    The study was a single-centre, retrospective analysis, completed at a tertiary care transplant center. Data were included from 242 patients admitted with LRTI during a 24 months' period. Respiratory specimens were analysed through BioFire® PCR. Blood mPCR specimens were excluded (n=44). Multiplex PCR results were compared with the gold standard of culture and sensitivity testing.

    Data from n=198 patients was included. The majority had a history of chronic hepatic or renal impairment (n=95; 48%) or liver/kidney transplantation (n=57; 28.8%). Chest imaging (n=162) predominantly revealed pleural effusions (35.2%) and parenchymal infiltrates (28.4%). Most common sample types included sputum (n=101; 51.0%) and tracheal aspirates (n=93; 47.0%). Following pathogen detections were recorded: 290 typical bacteria, 2 atypical organisms, and 95 viral detections. Klebsiella pneumoniae (32.3%) and Escherichia coli (28.8%) were most frequently identified. In n=102 patients with corresponding culture results, mPCR had sensitivity of 76% and specificity of 59%, with 66.7% concordance between methods. Multiplex PCR and culture identified multiple bacterial species in 38 (37.3%) and 17 (16.7%) cases, respectively. AMR gene analysis revealed high prevalence of CTX-M (30%), NDM (28%), and OXA-48-like (22%) mutations.

    Multiplex PCR pneumonia panel demonstrated high sensitivity in detecting respiratory pathogens but had limitations in its specificity when compared to culture methods.
    Chronic respiratory disease
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  • Effects of low-energy EVLA with the use of a 1470-nm laser on vascular inflammation and remodeling parameters in patients with chronic venous disease.
    3 weeks ago
    Laser radiation involving the mid-infrared range of a 1470 nm wavelength (the "water", or W-laser) coincides with the absorption peak in water and is recognized as one the most effective methods for performing endovenous laser ablation (EVLA) of varicose veins in patients with chronic venous disease (CVD). The mechanism of action on the vein of laser radiation with a 1470 nm wavelength ensures direct action on all layers of the vein wall and thermal damage. This study was brought up to evaluate the effects of low-energy EVLA with the use of a 1470-nm laser with the average linear endovenous energy density (LEED) of 80 J/cm, on the key serum biomarkers of vascular inflammation and remodeling. We have additionally assessed patients' quality-of-life (QoL). To study the effects of low-energy EVLA with the use of a 1470-nm laser on vascular inflammation and remodeling parameters in patients with CVD. In this prospective cohort study subjects with symptomatic varicose veins, clinical class C2-C3 according to the CEAP classification (N = 95) were allocated non-randomly to four groups: group 1 - control (compression stockings only); group 2 - comparison (conservative treatment with micronized purified flavonoid fraction, MPFF); group 3 - EVLA with the use of a 1470-nm laser with the average LEED of 80 J/cm; group 4 - EVLA with a 1470-nm laser with the average LEED of 80 J/cm with adjuvant MPFF therapy. Serum levels of E-selectin, MCP-1, VEGF, MMP-2 were measured. Additionally, QoL analysis was performed using a CIVIQ-20 questionnaire. Treatments were associated with significant reductions in inflammatory biomarkers including E-selectin, MCP-1, and VEGF for MPFF (p < 0.001), and E-selectin, MCP-1 and MMP-2 for EVLA (p < 0.001). EVLA with the use of a 1470-nm laser with the average LEED of 80 J/cm with adjuvant MPFF therapy was associated with most notable reductions in all studied biomarkers (p < 0.001). CIVIQ-20 was improved by 23%, 29%, 36% and 40% at 2 months in groups 1, 2, 3, and 4, respectively. Performing endovenous laser ablation with the use of a 1470-nm laser with the average LEED of 80 J/cm in patients with chronic venous disease is associated with a statistically significant reduction in serum biomarkers of vascular inflammation and remodelling such as E-selectin, MCP-1, VEGF, MMP-2, as well as improvement in quality of life. Adjuvant therapy with MPFF on top of EVLA gives best results in terms of improved biochemistry and QoL.
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  • Advances in Stimuli-Responsive Peptide-Polymer Carriers for Mitochondrial Therapeutics.
    3 weeks ago
    Mitochondria are essential organelles that govern energy metabolism, redox balance, and cell survival; their dysfunction is implicated in a wide range of pathologies, including neurodegenerative disorders, cardiovascular diseases, metabolic syndromes, and cancer. Despite their significance as therapeutic targets, the unique structural and electrochemical properties of mitochondria, particularly the impermeable inner mitochondrial membrane and high membrane potential pose major challenges for the targeted delivery of therapeutic agents. Recent advances in biomaterials have spotlighted peptide-polymer conjugates as versatile platforms, capable of navigating intracellular barriers and achieving precise mitochondrial localization. These hybrid systems combine the physicochemical tunability of polymers with the biofunctionality of peptides, enhancing cellular uptake, endosomal escape, and suborganelle trafficking. The incorporation of stimuli-responsive elements further enables spatiotemporal control of cargo release in response to intracellular cues such as pH shifts, thermal fluctuations, redox gradients, or enzymatic activity. Such systems are especially promising for mitochondrial gene and protein delivery, offering improved selectivity, reduced systemic toxicity, and the potential to restore mitochondrial function under pathological conditions. This review showcases advanced strategies in stimuli-responsive peptide-polymer systems for mitochondria-targeted delivery, highlighting how their smart, responsive functions enable precise, controllable therapeutic interventions and drive the development of next-generation, transformative biomaterials in precision nanomedicine.
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  • Continuing professional development on planetary health for African family physicians: descriptive survey.
    3 weeks ago
    The global ecological crisis is impacting vulnerable African communities and their primary care services. Family physicians and primary care providers need to be better prepared to respond to the effects on services and communities.

    To evaluate what members of the Primary Care and Family Medicine (PRIMAFAMED) network in sub-Saharan Africa need to know about planetary health, and how to address their learning needs.

    A descriptive cross-sectional survey of 40 institutions in the PRIMAFAMED network.

    Two members from each institution were purposively invited to complete a questionnaire, developed from a qualitative study.

    Eighty respondents, came from 38 institutions and 24 countries. The majority were not familiar with planetary health (58.2%) and never attended related education (60.8%). Main barriers were lack of clinical relevance, institutional or government support and educational resources. The top five clinical topics were: respiratory problems, infectious diseases, gastroenteritis, malnutrition, and cardiovascular disease together with diabetes. The top five broader topics were: how climate change impacts health, addressing environmental determinants through community-orientated primary care, how to make services more climate resilient and environmentally sustainable, and the effects of heat. Respondents reported that videos (49.4%), PowerPoint (48.1%), links to expert speakers (36.7%), and continuing professional development (CPD) articles (35.4%), would be most useful.

    Family physicians are interested in CPD on planetary health. Educational resources should enable clinical CPD to integrate specific information and should also include broader planetary health topics. These resources will be developed within the context of the PRIMAFAMED network.
    Cardiovascular diseases
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  • Fractional Flow Reserve to Guide Revascularization in Patients With Coronary Artery Disease Undergoing TAVR.
    3 weeks ago
    The prognostic value of fractional flow reserve (FFR) in assessing coronary stenosis before transcatheter aortic valve replacement (TAVR) is unclear.

    The aim of this study was to evaluate cardiovascular risks associated with significant and nonsignificant FFR values of coronary stenosis prior to TAVR.

    Patients were enrolled from the NOTION-3 (Nordic Aortic Valve Intervention-3) randomized trial and registry, including those with severe aortic stenosis scheduled for TAVR and ≥50% coronary stenosis. Patients with FFR ≤0.80 or stenosis ≥90% were randomized to conservative therapy (FFR ≤0.80 conservative group) or percutaneous coronary intervention (PCI; FFR ≤0.80 PCI group). Those with FFR >0.80 were included in the registry (FFR >0.80 defer group). Outcomes were cardiovascular death, myocardial infarction, and/or urgent revascularization through 36 months.

    Of 587 patients, 232 were in the FFR ≤0.80 conservative group, 220 in the FFR ≤0.80 PCI group, and 135 in the FFR >0.80 defer group. The cumulative incidence rates of cardiovascular death, myocardial infarction, or urgent revascularization were 21.6%, 11.5%, and 10.5%, respectively (P = 0.003). Excess risk in the FFR ≤0.80 conservative group was due mainly to higher myocardial infarction and urgent revascularization rates compared with the other groups. At a coronary lesion level, revascularization occurred in 12.6% of conservatively treated FFR ≤0.80 segments vs 1.3% of PCI-treated FFR ≤0.80 segments and 0.9% of deferred FFR >0.80 segments (P < 0.0001).

    Conservative management of FFR ≤0.80 lesions was linked to higher cardiovascular risk compared with either PCI of FFR ≤0.80 lesions or deferral of FFR >0.80 lesions, which had similar outcomes. These findings support an FFR threshold of 0.80 to guide coronary revascularization in patients undergoing TAVR. (Revascularization in Patients Undergoing Transcatheter Aortic Valve Implantation [NOTION-3]; NCT03058627).
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  • Long-Term and Temporal Relationships Between Post-Stent Fractional Flow Reserve and Clinical Outcomes.
    3 weeks ago
    Fractional flow reserve (FFR) following percutaneous coronary intervention (PCI) reflects the degree of flow limitation caused by residual disease after PCI.

    The aim of this study was to evaluate the long-term and temporal prognostic impact of post-PCI FFR on clinical outcomes over a 5-year follow-up period.

    A total of 2,128 patients who underwent angiographically successful drug-eluting stent implantation with post-PCI FFR measurement and completed 5 years of follow-up were analyzed. The primary outcome was target vessel failure (TVF), a composite of cardiac death, target vessel myocardial infarction, and target vessel revascularization (TVR).

    The risk for TVF was higher in the low post-PCI FFR group than in the high post-PCI FFR group at 5 years (adjusted HR [aHR]: 1.95; 95% CI: 1.46-2.62; P < 0.001). The higher risk for TVF in the low post-PCI FFR group compared with the high post-PCI FFR group was prominent within 3 years after PCI (aHR: 2.00; 95% CI: 1.44-2.78; P < 0.001) and attenuated 3 years after PCI (aHR: 1.80; 95% CI: 0.94-3.44; P = 0.076). Contrary to other clinical outcomes, only TVR in the nonstented segment showed a higher risk in the low post-PCI FFR group compared with the high post-PCI within (aHR: 2.78; 95% CI: 1.43-5.39; P = 0.003) and beyond (aHR: 6.73; 95% CI: 2.02-22.37; P = 0.002) 3 years after PCI.

    The prognostic impact of post-PCI FFR on TVF persisted over a 5-year follow-up period, but it was more prominent during the first 3 years after PCI. In contrast, its impact on TVR in the nonstented segments was sustained throughout the entire 5-year follow-up period. (International Post-PCI FFR Extended Registry; NCT05672862).
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  • Anatomical vs Physiological Lesion Characteristics in Prediction of Acute Coronary Syndrome.
    3 weeks ago
    Acute coronary syndrome (ACS) arises from a complex interplay among luminal narrowing, plaque morphology, and hemodynamic environment.

    The authors aimed to compare the effectiveness of anatomy- and physiology-based ACS risk assessment.

    In this international, multicenter, internal case-control study, 351 ACS patients who underwent coronary computed tomography angiography (CCTA) 1 month to 3 years before the event were analyzed. Lesions were classified as culprit or nonculprit based on invasive coronary angiography at the time of ACS. Core lab CCTA analyses assessed lesion-specific characteristics: stenosis severity, adverse plaque characteristics (APC) (low-attenuation plaque, positive remodeling, spotty calcification, napkin-ring sign), plaque burden at minimum lumen area, and changes in CCTA-derived fractional flow reserve (ΔFFRCT). Diagnostic performance in identifying culprit lesions was compared.

    Among 2,451 lesions, 363 (14.8%) became ACS culprits, with a median interval of 375 [95.0-644.5] days. All anatomical and simulated physiological characteristics were independently associated with culprit lesions (all P < 0.001). In identifying ACS culprit lesions, plaque burden ≥70% showed the highest sensitivity of 90.6% (87.2%-93.2%) and ΔFFRCT ≥0.10 had the highest specificity of 88.3% (86.9%-89.6%) %. Predictability was similar between ΔFFRCT and the combined degree of stenosis, the number of APCs, and plaque burden (area under the curve 0.805 [0.782-0.829] vs 0.802 [0.777-0.826]; P = 0.748), with additive discrimination towards each other.

    Luminal narrowing, plaque quality and quantity, and local hemodynamics were independent predictors of ACS, offering specificity in physiology and sensitivity in anatomy. A comprehensive assessment of them further refined the risk prediction for future ACS. (Exploring the Mechanism of Plaque Rupture in Acute Coronary Syndrome Using Coronary CT Angiography and Computational Fluid Dynamics II [EMERALD II]; NCT03591328).
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