- Abstract
- 10.1016/j.annonc.2024.08.034
25P NGS-based identification of novel hereditary breast/ovarian cancer genes in patients with clinical features of genetic predisposition
- Sep 01, 2024
- Annals of Oncology
- E.s Kuligina + 10 more +10
Publications from 2021 to 2026
Showing 7 of 7 papers
25P NGS-based identification of novel hereditary breast/ovarian cancer genes in patients with clinical features of genetic predisposition
The course of self-perceived cognitive functioning among patients with lymphoma and the co-occurrence with fatigue and psychological distress.
To investigate the proportion of patients with lymphoma with persistent clinically relevant cognitive impairment, and its relation to treatment, fatigue, and psychological distress. Patients with diffuse-large-B-cell-lymphoma (DLBCL), follicular-lymphoma (FL), and chronic-lymphocytic-leukemia (CLL)/small-lymphocytic-lymphoma (SLL), diagnosed between 2004-2010 or 2015-2019, were followed up to 8years post-diagnosis. Sociodemographic and clinical data were obtained from the Netherlands Cancer Registry and the Population-based HAematological Registry for Observational Studies. The EORTC QLQ-C30 was used to assess cognitive functioning and fatigue, and the HADS to assess psychological distress. Individual growth curve models were performed. Results were compared with an age- and sex-matched normative population. A total of 924 patients were included (70% response rate). Persistent cognitive impairment was twice as high in patients (30%) compared to the normative population (15%). Additionally, 74% of patients reported co-occurring symptoms of persistent fatigue and/or psychological distress. Patients with FL (- 23 points, p < 0.001) and CLL/SLL (- 10 points, p < 0.05) reported clinically relevant deterioration of cognitive functioning, as did the normative population (FLnorm - 5 points, DLBCLnorm - 4 points, both p < 0.05). Younger age, higher fatigue, and/or psychological distress at inclusion were associated with worse cognitive functioning (all p's < 0.01). Treatment appeared less relevant. Almost one-third of patients with lymphoma report persistent cognitive impairment, remaining present up to 8years post-diagnosis. Early onset and co-occurrence of symptoms highlight the need for clinicians to discuss symptoms with patients early. Early recognition of cognitive impairment could increase timely referral to suitable supportive care (i.e., lifestyle interventions) and reduce (long-term) symptom burden.
Read moreIdentification of post-COVID-19 condition phenotypes, and differences in health-related quality of life and healthcare use: a cluster analysis
The aim of this cross-sectional study was to identify post-COVID-19 condition (PCC) phenotypes and to investigate the health-related quality of life (HRQoL) and healthcare use per phenotype. We administered a questionnaire to a cohort of PCC patients that included items on socio-demographics, medical characteristics, health symptoms, healthcare use, and the EQ-5D-5L. A principal component analysis (PCA) of PCC symptoms was performed to identify symptom patterns. K-means clustering was used to identify phenotypes. In total, 8630 participants completed the survey. The median number of symptoms was 18, with the top 3 being fatigue, concentration problems, and decreased physical condition. Eight symptom patterns and three phenotypes were identified. Phenotype 1 comprised participants with a lower-than-average number of symptoms, phenotype 2 with an average number of symptoms, and phenotype 3 with a higher-than-average number of symptoms. Compared to participants in phenotypes 1 and 2, those in phenotype 3 consulted significantly more healthcare providers (median 4, 6, and 7, respectively, p < 0.001) and had a significantly worse HRQoL (p < 0.001). In conclusion, number of symptoms rather than type of symptom was the driver in the identification of PCC phenotypes. Experiencing a higher number of symptoms is associated with a lower HRQoL and more healthcare use.
Read moreAutomated River Plastic Monitoring Using Deep Learning and Cameras
Abstract Quantifying plastic pollution on surface water is essential to understand and mitigate the impact of plastic pollution to the environment. Current monitoring methods such as visual counting are labor intensive. This limits the feasibility of scaling to long‐term monitoring at multiple locations. We present an automated method for monitoring plastic pollution that overcomes this limitation. Floating macroplastics are detected from images of the water surface using deep learning. We perform an experimental evaluation of our method using images from bridge‐mounted cameras at five different river locations across Jakarta, Indonesia. The four main results of the experimental evaluation are as follows. First, we realize a method that obtains a reliable estimate of plastic density (68.7% precision). Our monitoring method successfully distinguishes plastics from environmental elements, such as water surface reflection and organic waste. Second, when trained on one location, the method generalizes well to new locations with relatively similar conditions without retraining (≈50% average precision). Third, generalization to new locations with considerably different conditions can be boosted by retraining on only 50 objects of the new location (improving precision from ≈20% to ≈42%). Fourth, our method matches visual counting methods and detects ≈35% more plastics, even more so during periods of plastic transport rates of above 10 items per meter per minute. Taken together, these results demonstrate that our method is a promising way of monitoring plastic pollution. By extending the variety of the data set the monitoring method can be readily applied at a larger scale.
Read moreAgile and FBM: A Match Made in Heaven
The agile way of working is often abbreviated to the principle: “working software over comprehensive documentation”, which is interpreted as “not need for documentation at all”. Looking carefully at the Agile manifesto, one also discovers the principle “continuous attention to technical excellence and good design enhances agility”. In this paper, we will cover the Agile principles and values mentioned in this manifesto and demonstrate how well fact-based modelling fits these principles and values.
Read morePositive behavioural disturbances in the rehabilitation phase after severe traumatic brain injury: an historic cohort study
Primary objective: To investigate the association of post-traumatic amnesia (PTA) with positive behavioural disturbances (PBD) in an historic cohort of patients with severe traumatic brain injury (TBI) and to evaluate the use and effects of neuroleptic drugs in this cohort.Research design: Historic cohort study.Methods: The medical files of 60 patients with severe TBI, selected for inpatient rehabilitation during a period of 5.5 years, were independently examined for the presence of PTA and PBD at admission in the rehabilitation centre as well as for the concomitant use of neuroleptic drugs. All TBI patients with PBD at admission were subjected to special nursing measures consisting of a structured and safe environment, a minimum number of caregivers and provision of simple and consistent feedback. As a basic policy, the use of neuroleptic medication was minimized or stopped.Results: Of the 28 patients suffering from PTA at admission, 16 demonstrated PBD (positive predictive value 0.57 (95% CI 0.45–0.70)). In contrast, all the 32 patients without PTA but one did not show PBD (negative predictive value 0.97 (95% CI 0.93–1.00)). Seven of the 17 patients with PBD (41%) had been prescribed neuroleptic medication, of whom five patients (81%) experienced undesired side effects. Because of the special nursing measures, these drugs could be stopped or substituted by non-neuroleptic behaviour-modifying drugs in all patients within 3 weeks, without aggravation of their PBD.Conclusions: These results suggest that impaired attention and memory may play a critical role in the development of PBD in patients with severe TBI. From this perspective, maximum effort must be made to improve TBI patients’ level of attention, memory and orientation instead of using mechanical or chemical restraints.
Read moreRisk of Sensitization to Kathon CG