Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer

The nuclease MRE11A is often included in genetic test panels for hereditary breast and ovarian cancer (HBOC) due to its BRCA1-related molecular function in the DNA repair pathway. However, whether MRE11A is a true predisposition gene for HBOC is still questionable. We determined to investigate this notion by dissecting the molecular genetics of the c.1516G > T;p.E506* truncating MRE11A variant, that we pinpointed in two unrelated French-Canadian (FC) HBOC patients. We performed a case-control study for the variant in ~ 2500 breast, ovarian, and endometrial cancer patients from the founder FC population of Quebec. Furthermore, we looked for the presence of second somatic alterations in the MRE11A gene in the tumors of the carriers. In summary, these investigations suggested that the identified variant is not associated with an increased risk of developing breast or ovarian cancer. We finally performed a systematic review for all the previously reported MRE11A variants in breast and ovarian cancer. We found that MRE11A germline variants annotated as pathogenic on ClinVar often lacked evidence for such classification, hence misleading the clinical management for affected patients. In summary, our report suggests the lack of clinical utility of MRE11A testing in HBOC, at least in the White/Caucasian populations

Inter-Rater Variability in the Evaluation of Lung Ultrasound in Videos Acquired from COVID-19 Patients

12 páginas, 7 figuras, 1 tablaLung ultrasound (LUS) allows for the detection of a series of manifestations of COVID-19, such as B-lines and consolidations. The objective of this work was to study the inter-rater reliability (IRR) when detecting signs associated with COVID-19 in the LUS, as well as the performance of the test in a longitudinal or transverse orientation. Thirty-three physicians with advanced experience in LUS independently evaluated ultrasound videos previously acquired using the ULTRACOV system on 20 patients with confirmed COVID-19. For each patient, 24 videos of 3 s were acquired (using 12 positions with the probe in longitudinal and transverse orientations). The physicians had no information about the patients or other previous evaluations. The score assigned to each acquisition followed the convention applied in previous studies. A substantial IRR was found in the cases of normal LUS (κ = 0.74), with only a fair IRR for the presence of individual B-lines (κ = 0.36) and for confluent B-lines occupying 50% (κ = 0.50). No statistically significant differences between the longitudinal and transverse scans were found. The IRR for LUS of COVID-19 patients may benefit from more standardized clinical protocols.This research was partially funded by CDTI (Spanish acronym: Centre for Industrial Tech- nological Development), funding number COI-20201153. Partially supported by the Google Cloud Research Credits program with the funding number GCP19980904, by the project RTI2018-099118- A-I00 founded by MCIU/AEI/FEDER UE and by the European Commission–NextGenerationEU, through CSIC’s Global Health Platform (PTI Salud Global)

Silencis, presències, rizomes: cròniques d'un curs d'investigació basada en les arts

Curs 2021-2022, Facultat de Belles Arts. UBAquesta publicació és un recull de les experiències d'aprentatge i dels moviments d'un grup de docents i estudiants que formen part d'un curs d'Investigació basada en les Arts (IBA). En el present document es presenten les quatre formalitzacions dels processos d'indagació realitzades al llarg d’aquest curs d’IBA al voltant de la natura com a constructe social; l’antropocè, el capitalocè i el chthulucè; el colonialisme; i, per últim, les pedagogiespost-humanistes. Tot i la separació en grups, tots els treballs es nodreixen de manera co-constituent i estableixen relacions de reciprocitat

Antidepressants overuse in primary care:Prescription trends between 2010 and 2019 in Catalonia

INTRODUCTION: There has been an increase in the prescription of antidepressants (AD) in primary care (PC). However, it is unclear whether this was explained by a rise in diagnoses with an indication for AD. We investigated the changes in frequency and the variables associated with AD prescription in Catalonia, Spain.METHODS: We retrieved AD prescription, sociodemographic, and health-related data using individual electronic health records from a population-representative sample (N=947.698) attending PC between 2010 and 2019. Prescription of AD was calculated using DHD (Defined Daily Doses per 1000 inhabitants/day). We compared cumulative changes in DHD with cumulative changes in diagnoses with an indication for AD during the study period. We used Poisson regression to examine sociodemographic and health-related variables associated with AD prescription.RESULTS: Both AD prescription and mental health diagnoses with an indication for AD gradually increased. At the end of the study period, DHD of AD prescriptions and mental health diagnoses with an indication for AD reached cumulative increases of 404% and 49% respectively. Female sex (incidence rate ratio (IRR)=2.83), older age (IRR=25.43), and lower socio-economic status (IRR=1.35) were significantly associated with increased risk of being prescribed an AD.CONCLUSIONS: Our results from a large and representative cohort of patients confirm a steady increase of AD prescriptions that is not explained by a parallel increase in mental health diagnoses with an indication for AD. A trend on AD off-label and over-prescriptions in the PC system in Catalonia can be inferred from this dissociation.</p

Inter-Rater Variability in the Evaluation of Lung Ultrasound in Videos Acquired from COVID-19 Patients

Lung ultrasound (LUS) allows for the detection of a series of manifestations of COVID-19, such as B-lines and consolidations. The objective of this work was to study the inter-rater reliability (IRR) when detecting signs associated with COVID-19 in the LUS, as well as the performance of the test in a longitudinal or transverse orientation. Thirty-three physicians with advanced experience in LUS independently evaluated ultrasound videos previously acquired using the ULTRACOV system on 20 patients with confirmed COVID-19. For each patient, 24 videos of 3 s were acquired (using 12 positions with the probe in longitudinal and transverse orientations). The physicians had no information about the patients or other previous evaluations. The score assigned to each acquisition followed the convention applied in previous studies. A substantial IRR was found in the cases of normal LUS (&kappa; = 0.74), with only a fair IRR for the presence of individual B-lines (&kappa; = 0.36) and for confluent B-lines occupying &lt; 50% (&kappa; = 0.26) and a moderate IRR in consolidations and B-lines &gt; 50% (&kappa; = 0.50). No statistically significant differences between the longitudinal and transverse scans were found. The IRR for LUS of COVID-19 patients may benefit from more standardized clinical protocols