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Fulltext Prioritization of putatively detrimental variants in euploid miscarriages

Buonaiuto S, Biase ID, Aleotti V, Ravaei A, Marino A, Damaggio G, et al.

Sci Rep, 2022 Feb 07;12(1):1997.
PMID: 35132093 DOI: 10.1038/s41598-022-05737-3

Miscarriage is the spontaneous termination of a pregnancy before 24 weeks of gestation. We studied the genome of euploid miscarried embryos from mothers in the range of healthy adult individuals to understand genetic susceptibility to miscarriage not caused by chromosomal aneuploidies. We developed GP , a pipeline that we used to prioritize 439 unique variants in 399 genes, including genes known to be associated with miscarriages. Among the prioritized genes we found STAG2 coding for the cohesin complex subunit, for which inactivation in mouse is lethal, and TLE4 a target of Notch and Wnt, physically interacting with a region on chromosome 9 associated to miscarriages.
Fulltext Student satisfaction and academic efficacy during online learning with the mediating effect of student engagement: A multi-country study

Sharif Nia H, Marôco J, She L, Khoshnavay Fomani F, Rahmatpour P, Stepanovic Ilic I, et al.

PLoS One, 2023;18(10):e0285315.
PMID: 37792853 DOI: 10.1371/journal.pone.0285315

The COVID-19 pandemic caused unprecedented changes to educational institutions, forcing their closure and a subsequent shift to online education to cater to student learning requirements. However, successful online learning depends on several factors and may also vary between countries. As such, this cross-sectional study sought to investigate how engagement of university students, a major driver of online learning, was influenced by course content, online interaction, student acceptance, and satisfaction with online learning, as well as self-efficacy across nine countries (China, India, Iran, Italy, Malaysia, Portugal, Serbia, Turkey, and the United Arab Emirates) during the COVID-19 pandemic. Using a questionnaire-based approach, data collected from 6,489 university students showed that student engagement was strongly linked to perception of the quality of the course content and online interactions (p < .001). The current study also indicated that online interactions are a major determinant of academic efficacy but only if mediated by engagement within the online learning context. A negative correlation between student engagement and satisfaction with online learning was found, demonstrating the importance of students being engaged behaviorally, emotionally, and cognitively to feel satisfied with learning. Academic efficacy and student satisfaction were explained by course content, online interaction, and online learning acceptance, being mediated by student engagement. Student satisfaction and, to a lesser degree academic efficacy, were also associated with online learning acceptance. Overall, the structural equation model was a good fit for the data collected from all nine countries (CFI = .947, TLI = .943; RMSEA = .068; SRMR = .048), despite differences in the percentage variations explained by each factor (no invariance), likely due to differences in levels of technology use, learning management systems, and the preparedness of teachers to migrate to full online instruction. Despite limitations, the results of this study highlight the most important factors affecting online learning, providing insight into potential approaches for improving student experiences in online learning environments.
Safety and effectiveness of the self-aPposing, bAlloon-delivered, siRolimus-eluting stent for the Treatment of the coronary Artery disease: SPARTA, a multicenter experience

Montefusco A, De Filippo O, Gili S, Mancone M, Calcagno S, Cirillo P, et al.

Coron Artery Dis, 2020 01;31(1):27-34.
PMID: 31658146 DOI: 10.1097/MCA.0000000000000790

AIMS: To assess the long-term outcomes of patients treated with sirolimus-eluting Stentys stent in a real-life setting.
BACKGROUND: Few data regarding the safety and effectiveness of self-apposing sirolimus-eluting Stentys stent are available.
METHODS: 278 patients (30% stable coronary artery disease, 70% acute coronary syndromes, and 54% on unprotected left main) treated with sirolimus eluting Stentys stent were retrospectively included in the self-aPposing, bAlloon-delivered, siRolimus-eluting stent for the Treatment of the coronary Artery disease multicenter registry. Major adverse cardiovascular events (MACE, a composite of cardiac death, myocardial infarction, target lesion revascularization, stent thrombosis) were the primary end-point, single components of MACE were the secondary ones.
RESULTS: After 13 months (interquartile range 5-32), MACE was 14%. Stent thrombosis occurred in 3.9% of the patients (2.5% definite stent thrombosis and 1.4% probable stent thrombosis), 66% of them presenting with ST-segment elevation myocardial infarction (STEMI) at admission. Cardiovascular death, target lesion revascularization and myocardial infarction was 4.7%, 8.3%, and 7.2%, respectively. At multivariate analysis, risk of MACE was increased by diabetes (hazard ratios 4.76; P = 0.002) but was not affected by the indication leading to sirolimus-eluting Stentys stent implantation (marked vessel tapering vs. coronary ecstasies, hazard ratios 0.74, P = 0.71).
CONCLUSION: Sirolimus-eluting Stentys stent may represent a potential solution for specific coronary anatomies such as bifurcation, ectasic, or tapered vessels. Risk of stent thrombosis appears related to clinical presentation with STEMI and to anatomic features, stressing the importance of the use of intracoronary imaging for self-expandable stents implantation.
Goodbye Hartmann trial: a prospective, international, multicenter, observational study on the current use of a surgical procedure developed a century ago

Perrone G, Giuffrida M, Abu-Zidan F, Kruger VF, Livrini M, Petracca GL, et al.

World J Emerg Surg, 2024 Apr 16;19(1):14.
PMID: 38627831 DOI: 10.1186/s13017-024-00543-w

BACKGROUND: Literature suggests colonic resection and primary anastomosis (RPA) instead of Hartmann's procedure (HP) for the treatment of left-sided colonic emergencies. We aim to evaluate the surgical options globally used to treat patients with acute left-sided colonic emergencies and the factors that leading to the choice of treatment, comparing HP and RPA.
METHODS: This is a prospective, international, multicenter, observational study registered on ClinicalTrials.gov. A total 1215 patients with left-sided colonic emergencies who required surgery were included from 204 centers during the period of March 1, 2020, to May 31, 2020. with a 1-year follow-up.
RESULTS: 564 patients (43.1%) were females. The mean age was 65.9 ± 15.6 years. HP was performed in 697 (57.3%) patients and RPA in 384 (31.6%) cases. Complicated acute diverticulitis was the most common cause of left-sided colonic emergencies (40.2%), followed by colorectal malignancy (36.6%). Severe complications (Clavien-Dindo ≥ 3b) were higher in the HP group (P