University of Saint Mary

Globally, chronic kidney disease (CKD) affects over 800 million individuals and is characterized by significant genetic complexity. More than 600 genes are associated with hereditary kidney disease, which may manifest as isolated kidney issues or as part of a syndrome that also includes extrarenal manifestations. The aim of this study was to identify genetic variants in a group of ten patients who presented with clinical signs suggestive of genetic syndromes associated with CKD, or who were asymptomatic but had a positive family history of CKD. Extensive genetic testing (targeted gene panels and whole-exome sequencing-WES) identified a mutation in the PKD1 gene in 3 out of 10 cases. In one patient, a known mutation in the PKD2 gene was identified. Another four patients were diagnosed with Alport syndrome: three of these presented with de novo missense mutations in the COL4A5 gene, and one patient had a mutation in the COL4A3 gene. One patient was diagnosed with MODY5, caused by a known mutation in the HNF1B gene, and one patient was diagnosed with Bartter syndrome type 1, resulting from a known mutation in the SLC12A1 gene. We present genotype-phenotype correlations, highlighting the particularities of each patient within their family context. Our findings emphasize the importance of genotype-phenotype correlations in refining diagnosis, personalizing therapeutic management, and providing essential genetic counseling for at-risk relatives.

Background and Objectives: Glioblastoma (GBM) is the most aggressive form of primary brain tumor, characterised by high recurrence rates and poor patient prognosis. This study aimed to identify gene-expression signatures and molecular networks associated with primary and recurrent GBM to better understand the biological mechanisms underlying tumor progression. Materials and Methods: Gene expression analysis of TCGA data was conducted to identify differentially expressed genes across tumor, recurrent, and normal brain tissues. Analysis of overlapping differentially expressed gene sets revealed both common and specific gene-expression profiles across the groups, highlighting genes potentially involved in GBM recurrence. Gene network and canonical pathway analyses were performed using Ingenuity Pathway Analysis (IPA) to identify key pathways and cellular functions altered in GBM. Results: Our data identified distinct molecular signatures in tumor, recurrent, and normal brain samples, highlighting dysregulated genes associated with cellular growth, proliferation, and movement. Transcriptomic stratification revealed progressive tumor- and recurrence-adapted states, with composite Tumor Scores (TS) and Recurrence Scores (RS) classifying samples into four classes: normal-like, proliferative, transitional, and recurrence-adapted tumor states. Conclusions: These findings provide insights into the signaling networks and biological mechanisms underlying GBM recurrence and may guide the identification of potential therapeutic targets to improve the management of this malignancy.

Context. Winds are an important ingredient in the evolution of X-ray binary (XRB) systems, particularly those at high accretion rates such as ultra-luminous X-ray sources (ULXs), because they may regulate the accretion of matter onto the compact object. Aims. Our aim is to understand the properties of ULX winds and their link with the source spectral and temporal behaviour. Methods. We performed high-resolution X-ray spectroscopy of the variable source NGC 55 ULX-1 to resolve emission and absorption lines as observed with XMM-Newton at different epochs. Optically thin plasma models were used to characterise the wind. Results. We confirmed and thoroughly strengthened previous evidence of outflows in NGC 55 ULX-1. The presence of radiative recombination signatures and the ratios of the fluxes of the emission lines favours photoionisation balance and low to moderate densities, which confirm that the lines originate from classical XRB disc winds. An in-depth parameter space exploration shows line emission from a slowly moving, cool, and variable plasma perhaps associated with a thermal wind. Mildly relativistic Doppler shifts (about −0.15 c ) associated with the absorption lines confirm, at higher confidence, the presence of powerful radiatively driven winds. Conclusions. The comparison between the results obtained at different epochs revealed that the wind responds to the variability of the underlying continuum. These variations may be used to understand the actual accretion regime and the nature of the source.

We present a three-dimensional model of the positions of 20 stars in the field of the Cepheid UMi (Polaris) – 18 main sequence stars (spectral types A0–G0 V), the K-giant HD 6319 (K2 III) and Polaris itself (F8 Ib) – which was created using the 3D calculator Desmos 3D, based on the calculated U, V and W components of the full velocity vector of the stars in the Galactic coordinate system. In this paper, stellar radial velocity estimates from Usenko et al. (2023) were used. Two versions of the U, V, and W components were calculated based on Gaia DR3 parallaxes and photometric parallaxes. The resulting 3D image showed that, in both scenarios, 15 main-sequence stars, a K-giant, and Polaris form a noticeable clamp, while three stars (HD 14718, HD 90162, and HD 11696) are located outside of it. HD 14718 and HD 90162 belong to the thick disk, while HD 11696 is a remnant of a possible open cluster in Polaris’s field. The K-giant HD 6319 is located inside the clamp and quite close to the Cepheid, and it is quite possible that this clamp is part of the main component of the probable open cluster Polaris, dissolved in the field of the Cepheid. Using a 3D calculator to construct a spatial image of stars may serve as a good tool for studying the structure and dynamics of open clusters in the future.

Purpose Studies examining customer engagement (CE) with retailers have been sparse. We propose and test a comprehensive model of CE in three separate retail contexts. Building on the relationship marketing framework, we propose that satisfaction, trust and affective commitment are antecedents of CE. CE, a second order construct, manifests in terms of attitudinal loyalty, as well as intention to repurchase, willingness to advocate and actual spending. Design/methodology/approach Two national surveys were conducted in Canada. Study 1 focused on apparel (N = 225) and grocery (N = 229) retail sectors. In Study 2, survey responses from customers of one specific pharmacy retail chain (N = 464) were combined with their actual spending with the retailer. Structural equation modeling was used to test CE as a second-order construct. Findings Data from both studies supported the proposed model and hypotheses across all datasets. CE requires retailers to provide customer experience that builds trust and emotional attachment, which in turn leads to brand advocacy and increased spending with the retailer. Practical implications These studies show that CE is determined by satisfaction, trust and commitment. Retailers must focus on meeting and exceeding customer expectations, so they are highly satisfied. By consistently delivering the brand promise retailers can build trust and elicit affective commitment from customers which are crucial for developing CE. Originality/value This study demonstrates the process of CE creation in retail as well as the outcomes of engagement, with validation in three different retail settings. We combine data on consumer spending from a retailer's CRM system with their survey responses to demonstrate the real-world validity of our model.

Background: Percutaneous left atrial appendage occlusion (LAAO) is increasingly utilized for stroke prevention in non-valvular atrial fibrillation (NVAF) patients with contraindications to long-term anticoagulation. With growing global use of WATCHMAN, Amplatzer Amulet, and LAmbre devices, a comprehensive comparison integrating randomized controlled trials (RCTs) and real-world evidence is warranted. Methods: We conducted a systematic review and meta-analysis of RCTs, registries, and observational studies from PubMed, Scopus, Embase, and Cochrane (through June 2025), including studies reporting outcomes for WATCHMAN (2.5 and FLX), Amplatzer Amulet, and LAmbre. Primary endpoints included ischemic stroke, systemic embolism, all-cause mortality, major bleeding, device-related thrombus (DRT), peri-device leak (PDL), and procedural complications. Subgroup analyses assessed device type, CHADS 2 -VASc score, imaging modality (ICE vs TEE), and LAA anatomy. Random-effects models pooled trial and real-world data. Results: We analyzed 27 studies (12 RCTs, 15 observational; 65,308 patients). Procedural success exceeded 97% across devices. Annual ischemic stroke rates were 1.5% (WATCHMAN), 1.4% (Amulet), and 1.2% (LAmbre) (p=NS); all-cause mortality was 3.6%, 3.5%, and 3.3%, respectively. Major bleeding rates were 3.0% (WATCHMAN), 2.7% (Amulet), and 2.8% (LAmbre), with WATCHMAN FLX significantly reducing bleeding vs WATCHMAN 2.5 (OR 0.68, 95% CI 0.49–0.92). DRT occurred in 1.9% (WATCHMAN), 1.3% (Amulet), and 0.9% (LAmbre). Significant PDL (>5 mm) was highest with WATCHMAN (3.2%), lower with Amulet (1.1%) and LAmbre (0.7%). Device embolization occurred in 0.5% (Amulet), 0.2% (WATCHMAN), and 0% (LAmbre), while pericardial effusion rates were 3.1%, 2.8%, and 1.5%, respectively. ICE guidance improved procedural success (OR 1.11, 95% CI 1.03–1.21) but increased pericardial effusion risk (OR 1.22, 95% CI 1.05–1.42) vs TEE. Efficacy was consistent across CHADS 2 -VASc scores (mean 3.8 ± 1.3). LAmbre demonstrated superior adaptability in complex anatomies, including large ostia (≥31 mm), bilobed morphologies, and persistent thrombus. Conclusion: LAAO devices are safe and effective for stroke prevention in NVAF, with device-specific differences. Real-world data highlight LAmbre’s suitability for complex anatomies and Amulet’s lower leak rates. Optimal outcomes depend on individualized device selection based on anatomy, imaging, and bleeding risk.

5 years have passed since the formation of the multidisciplinary consortium 'Knowing & Treating Kosaki and Penttinen Syndromes', two ultra-rare degenerative multisystem syndromes caused by heterozygous activating variants in PDGFRB. Neurological, orthopaedic and vascular deterioration can occur. Case reports of patients treated with tyrosine kinase inhibitors (TKIs) suggest that these drugs may be a therapeutic option in the future. The bi-annual remote meetings provide an opportunity to share knowledge on these syndromes. The consortium has validated the communication process, standardised follow-up guidelines, established a database to improve the natural history of these syndromes and evaluated the real-world safety and efficacy profile of TKIs by comparing treated and untreated patients. The regulatory framework is in place. As of November 2024, 18 teams in 13 countries have joined the consortium. More than 25 patients have been identified worldwide, either published or unpublished; 7 of them were treated with a TKI. The guidelines include retrospective and prospective sections for each organ affected by the disease and are based on literature and expert opinion. They also include recommendations to standardise the assessment of the efficacy and safety of treatments prescribed under compassionate use. The consortium welcomes new teams on an ongoing basis. Recommendations are especially useful in such ultra-rare degenerative diseases. The real-life observational study seems to be an appropriate model to improve knowledge, including the assessment of treatment efficacy when the prevalence of the disease does not allow the setting up of clinical trials.

Data sharing not applicable to this article as no datasets were generated or analysed during the current study.

BackgroundPsychological readiness after anterior cruciate ligament reconstruction (ACLR), as measured by the Anterior Cruciate Ligament–Return to Sport after Injury (ACL-RSI) scale, has become a critical factor in determining an athlete’s ability to return to sport. While the ACL-RSI is widely used, the influence of the timing of its administration in relation to physical performance testing has not been studied.Purpose/HypothesisThe primary aim of this study was to investigate the differences in ACL-RSI scores and subscale scores assessed up to one week before versus immediately after exposure to objective physical performance testing, but prior to reviewing the results with the athlete.Study DesignProspective case series.MethodsFifty athletes recovering from ACLR participated in this study. The ACL-RSI questionnaire was administered within one week prior to and immediately after completing a return-to-sport physical performance testing battery. The testing included elements assessing maximum volitional force production, explosiveness, and hopping and landing ability. Changes in overall ACL-RSI scores and its subscales (emotions, confidence in performance, and risk appraisal) were analyzed.ResultsNo significant differences were found in ACL-RSI scores pre- to post return to sport testing (-2.27, p=0.125). However, there was a significant decrease in the emotions subscale (-5.08, p=0.006), suggesting that physical testing may negatively impact emotional readiness. The confidence in performance and risk appraisal subscales did not show significant changes. Despite no statistical differences in ACL-RSI scores pre- to post return to sport testing, 20% of participants exhibited a change in ACL-RSI scores that exceeded the minimal clinically important difference (MCID), highlighting individual variability in psychological responses to testing.ConclusionThe findings suggest that administering the ACL-RSI after physical performance testing may provide a more accurate assessment of some athletes’ psychological readiness to return to sport. The significant reduction in the emotions subscale underscores the need for further research into the emotional impact of physical testing.Level of Evidence3b