Cancer risks associated with germline PALB2 pathogenic variants: An international study of 524 families

PURPOSE To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these risks have not been extensively characterized. METHODS We analyzed data from 524 families with PALB2 PVs from 21 countries. Complex segregation analysis was used to estimate relative risks (RRs; relative to country-specific population incidences) and absolute risks of cancers. The models allowed for residual familial aggregation of breast and ovarian cancer and were adjusted for the family-specific ascertainment schemes. RESULTS We found associations between PALB2 PVs and risk of female breast cancer (RR, 7.18; 95% CI, 5.82 to 8.85; P = 6.5 × 10-76), ovarian cancer (RR, 2.91; 95% CI, 1.40 to 6.04; P = 4.1 × 10-3), pancreatic cancer (RR, 2.37; 95% CI, 1.24 to 4.50; P = 8.7 × 10-3), and male breast cancer (RR, 7.34; 95% CI, 1.28 to 42.18; P = 2.6 3 1022). There was no evidence for increased risks of prostate or colorectal cancer. The breast cancer RRs declined with age (P for trend = 2.0 × 10-3). After adjusting for family ascertainment, breast cancer risk estimates on the basis of multiple case families were similar to the estimates from families ascertained through population-based studies (P for difference = .41). On the basis of the combined data, the estimated risks to age 80 years were 53% (95% CI, 44% to 63%) for female breast cancer, 5% (95% CI, 2% to 10%) for ovarian cancer, 2%-3% (95% CI females, 1% to 4%; 95% CI males, 2% to 5%) for pancreatic cancer, and 1% (95% CI, 0.2% to 5%) for male breast cancer. CONCLUSION These results confirm PALB2 as a major breast cancer susceptibility gene and establish substantial associations between germline PALB2 PVs and ovarian, pancreatic, and male breast cancers. These findings will facilitate incorporation of PALB2 into risk prediction models and optimize the clinical cancer risk management of PALB2 PV carriers

Microscopic Traffic Dynamics and Platoon Control Based on Bond Graph Modeling

International audience— Modeling of traffic dynamic is important for the good traffic management which leads to sustainable transport. Traffic models are classified based on level of details they provide as microscopic models and macroscopic models. A microscopic model of traffic flow describes the behavior of individual vehicle in response to motion of the vehicle preceding it, while, a macroscopic model describes the behavior of the traffic as a whole, but the behavior of individual vehicle is not described. In the present work, we develop a microscopic model of car-following behavior of the vehicles and introduce the sub-microscopic model of traffic, in which the dynamic model of each vehicle is developed, which is not considered in most of the existing microscopic models. Then, a model based control strategy is proposed for the local control of the platoon of the intelligent autonomous vehicles (IAVs). This model based control strategy analytically provides the calculation of necessary effort for the follower IAV to maintain the safe inter-distance with the leader IAV

experimental data.

Size distribution of amyloid fibrils. Mathematical models an

Size distribution of amyloid fibrils. Mathematical models and experimental data.

More than twenty types of proteins can adopt misfolded conformations, which can coaggregate into amyloid fibrils, and are related to pathologies such as Alzheimer's disease. Numerous reactions have been proposed to take part to their aggregation kinetics, though the relative importance of each reaction in vivo is unclear. We have statistically analysed the shape of the size distribution of prion fibrils, with the peculiar example of truncated data due to the experimental technique (electron microscopy). A model of polymerization and depolymerization succeeds in explaining the exponential law, which can be followed by the experimental distribution. The effect of other reactions is exposed by reviewing mathematical models on length distribution: activation steps, with nucleation compared to initiation, disaggregation steps, with depolymerization compared to fragmentation, and additional processes such as filament coalescence or secondary nucleation.no

Ergonomics in Interventional Radiology: Awareness Is Mandatory

Ergonomics in interventional radiology has not been thoroughly evaluated. Like any operators, interventional radiologists are exposed to the risk of work-related musculoskeletal disorders. The use of lead shielding to radiation exposure and the lack of ergonomic principles developed so far contribute to these disorders, which may potentially affect their livelihoods, quality of life, and productivity. The objectives of this review were to describe the different situations encountered in interventional radiology and to compile the strategies both available to date and in development to improve ergonomics

Global Survey of the Roles and Attitudes Toward Social Media Platforms Amongst Urology Trainees

To perform a global survey assessing the role of and the attitudes toward media platforms amongst training Urologists We distributed a 21-item online survey on social medial (SoMe) and other media platforms to current Urology trainees by email via individual institutions and multiple Urological associations. The survey acquired data including baseline characteristics, the role of and attitudes toward SoMe and other media platforms in training and assessed the prevalence of Social Media Disorder (SMD) based on the validated 9-item SMD Scale. Stata IC was used for statistical analysis. Three hundred and seventy-two urology trainees in 6 continents participated in the survey. Overall, 99.4% used SoMe and 27.3% listened to healthcare-focused podcasts. Most trainees (85.5%) are using guideline apps for education purposes, with the top 3 most utilized apps being the EAU, AUA, and UpToDate applications. There was mixed sentiment regarding the impact of SoMe on the patient-physician relationship, wherein most felt it challenges the doctor's authority (56.7%) but also empowers the patient (62.7%) and encourages shared-care (57.3%). Unfortunately, 11.3% of urology trainees met criteria for SMD while 65.4% had not reviewed professional guidelines on appropriate SoMe use. Despite practically all urology trainees using SoMe and guideline applications, the majority of trainees have not reviewed or have been educated on professional guidelines for SoMe usage. There is a small but significant number of trainees who are at risk for SMD which may be contributing to higher rates of physician burnout amongst urologists

Telemedicine Usage Among Urologists During the COVID-19 Pandemic: Cross-Sectional Study

Prior to the COVID-19 pandemic, urology was one of the specialties with the lowest rates of telemedicine and videoconferencing use. Common barriers to the implementation of telemedicine included a lack of technological literacy, concerns with reimbursement, and resistance to changes in the workplace. In response to the COVID-19 pandemic declared in March 2020, the delivery of urological services globally has quickly shifted to telemedicine to account for the mass clinical, procedural, and operative cancellations, inadequate personal protective equipment, and shortage of personnel. The aim of this study was to investigate current telemedicine usage by urologists, urologists' perceptions on the necessity of in-person clinic appointments, the usability of telemedicine, and the current barriers to its implementation. We conducted a global, cross-sectional, web-based survey to investigate the use of telemedicine before and after the COVID-19 pandemic. Urologists' perceived usability of telemedicine was assessed using a modified Delphi approach to create questions based on a modified version of the validated Telehealth Usability Questionnaire (TUQ). For the purposes of this study, telemedicine was defined as video calls only. A total of 620 urologists from 58 different countries and 6 continents participated in the survey. Prior to COVID-19, 15.8% (n=98) of urologists surveyed were using telemedicine in their clinical practices; during the pandemic, that proportion increased to 46.1% (n=283). Of the urologists without telemedicine experience, interest in telemedicine usage increased from 43.7% (n=139) to 80.8% (n=257) during the COVID-19 pandemic. Among urologists that used telemedicine during the pandemic, 80.9% (n=244) were interested in continuing to use it in their practice. The three most commonly used platforms were Zoom, Doxy.me, and Epic, and the top three barriers to implementing telemedicine were patients' lack of technological comprehension, patients' lack of access to the required technology, and reimbursement concerns. This is the first study to quantify the use, usability, and pervading interest in telemedicine among urologists during the COVID-19 pandemic. In the face of this pandemic, urologists' usage of telemedicine nearly tripled, demonstrating their ability to adopt and adapt telemedicine into their practices, but barriers involving the technology itself are still preventing many from utilizing it despite increasing interest

Telemedicine Usage Among Urologists During the COVID-19 Pandemic: Cross-Sectional Study (Preprint)

BACKGROUND Prior to the COVID-19 pandemic, urology was one of the specialties with the lowest rates of telemedicine and videoconferencing use. Common barriers to the implementation of telemedicine included a lack of technological literacy, concerns with reimbursement, and resistance to changes in the workplace. In response to the COVID-19 pandemic declared in March 2020, the delivery of urological services globally has quickly shifted to telemedicine to account for the mass clinical, procedural, and operative cancellations, inadequate personal protective equipment, and shortage of personnel. OBJECTIVE The aim of this study was to investigate current telemedicine usage by urologists, urologists’ perceptions on the necessity of in-person clinic appointments, the usability of telemedicine, and the current barriers to its implementation. METHODS We conducted a global, cross-sectional, web-based survey to investigate the use of telemedicine before and after the COVID-19 pandemic. Urologists’ perceived usability of telemedicine was assessed using a modified Delphi approach to create questions based on a modified version of the validated Telehealth Usability Questionnaire (TUQ). For the purposes of this study, telemedicine was defined as video calls only. RESULTS A total of 620 urologists from 58 different countries and 6 continents participated in the survey. Prior to COVID-19, 15.8% (n=98) of urologists surveyed were using telemedicine in their clinical practices; during the pandemic, that proportion increased to 46.1% (n=283). Of the urologists without telemedicine experience, interest in telemedicine usage increased from 43.7% (n=139) to 80.8% (n=257) during the COVID-19 pandemic. Among urologists that used telemedicine during the pandemic, 80.9% (n=244) were interested in continuing to use it in their practice. The three most commonly used platforms were Zoom, Doxy.me, and Epic, and the top three barriers to implementing telemedicine were patients’ lack of technological comprehension, patients’ lack of access to the required technology, and reimbursement concerns. CONCLUSIONS This is the first study to quantify the use, usability, and pervading interest in telemedicine among urologists during the COVID-19 pandemic. In the face of this pandemic, urologists’ usage of telemedicine nearly tripled, demonstrating their ability to adopt and adapt telemedicine into their practices, but barriers involving the technology itself are still preventing many from utilizing it despite increasing interest. </sec