Uptake and Patient Perspectives on Additional Testing for Novel Disease-Associated Genes: Lessons from a PAH Cohort

Background: Pulmonary arterial hypertension (PAH) has an identifiable genetic cause in 5% of all PAH cases. Due to health benefits conferred by the early detection of PAH and the recent identification of additional PAH-associated genes, we decided to offer (extended) genetic testing to all incident and prevalent idiopathic PAH (iPAH) and pulmonary veno-occlusive disease (PVOD) patients in our clinic. Here, we report the lessons learned from (re-)contacting iPAH/PVOD patients concerning the uptake and analysis of identified PAH-associated genes and patient perspectives of the approach. Methods: Between January 2018 and April 2020, all iPAH/PVOD patients who were not previously genetically tested (contact group) and those who tested negative on prior analysis of BMPR2 and SMAD9 variants (re-contact group) were (re-)contacted for (additional) genetic testing. Results: With our approach, 58% of patients (84 out of 165) opted for genetic counselling, and a pathogenic variant was found in 12% of cases (n = 10) (re-contact group, 11%, and contact group, 13%). Eighty-six percent of participants of the survey study appreciated being (re-)contacted for genetic testing. Mild psychosocial impacts were observed. Conclusions: Our report shows the importance of (re-)contact and interest of patients (as indicated by the uptake, mild psychosocial impact and appreciation) in PAH.

Heads-Up: Risk-Specific Neurodegenerative Mortality and Years-Saved Analysis on the US Olympian Cohort

Purpose: This study aimed to identify the risk of neurodegenerative death (ND) that former Olympians endure due to their participation in sports grouped based on presumed repeated shocks to the head, and to understand the impact of their participation in such elite sports on their total longevity.Materials and Methods: The cohort included all former US Olympians, who participated in the Olympic Games (OG) between 1948 and 1972, and whose vital status and causes of death were verified (n = 2,193). Olympic sports were classified into three categories of exposure: Collision (the highest presumed risk of repeated shocks to the head), Contact, and No-Contact. The Fine-Gray competing risk regression model was used to compare the risk of ND where the No-Contact category was a reference group. The years-saved analysis was performed to quantify the number of years saved or lost to ND and total longevity compared with the US general population.Results: A total of 65 NDs were identified. Collision sports Olympians had a 3.11 (95% CI: 1.31–7.40) higher risk of ND while the Contact group showed a risk of 0.56 (95% CI: 0.21–1.48) compared with the No-Contact sports Olympians. Compared with the general population, the Collision group lost 0.61 (95% CI: -1.16—0.06) years of life from ND, while the Contact group saved 0.4 (95% CI: 0.26–0.54) and the No-Contact group saved 0.09 (-0.09–0.28) years of life up to the age of 90. Regarding the total longevity, Collision, Contact, and No-Contact groups saved 4.67 (95% CI: 3.13–6.22), 5.8 (95% CI: 4.93–6.67), and 6.24 (95% CI: 5.57–6.92) years of life, respectively, from all causes of death.Conclusion: There is an elevated risk of ND among US Olympians, who engaged in sports with the highest presumed risk of repeated shocks to the head compared with those exposed to no such hazard. Such risk does not jeopardize the total longevity among Olympians in Collision sports.

Koreans' attitudes toward China and Chinese people: The effect of direct contact experience

Although the number of Chinese immigrants moving to South Korea has increased in the past decade Koreans still hold negative attitudes toward China and the Chinese populace. To discover whether this prejudice can be reduced, we examined the effect of direct contact with Chinese people on Koreans' explicit and implicit attitudes toward China and Chinese people. Participants in our study were 91 Korean university students who were divided into two groups based on their contact experience with people from China. The contact group (n = 43) and the noncontact group (n = 48) both completed a cultural experience questionnaire, the Explicit Attitude Questionnaire, and the Implicit Association Test. According to the results, the contact group displayed more positive explicit and implicit attitudes toward China and Chinese people than did the noncontact group. These findings suggest that it may be possible to improve Koreans' perception of China and relations with Chinese people by increasing direct contact experience between the two communities.

Social contact and speech act strategies in a Chinese study abroad context

This study examined the relationship between reported amounts of social contact and speech act strategies among 70 learners of Chinese enrolled in a study abroad program in Beijing. The participants completed a computer-delivered spoken discourse completion task (spoken DCT) eliciting three speech acts: requests, refusals, and compliment responses. Speech act strategies were compared between two groups of learners who reported different amounts of social contact (high and low social contact) as assessed via a self-report survey. Results showed that both high and low social contact groups favored using similar strategies to achieve the three speech acts. However, the high social contact group produced speech acts in a more sophisticated way: with a wider variety of request strategies, multiple refusal strategies used in combination and more deflecting strategies in compliment responses, compared with the low social contact group. The findings suggest that social contact helped learners expand their pragmalinguistic repertoire and employ more varied speech act strategies.

Self-Perceived Mental Health Status, Digital Activity, and Physical Distancing in the Context of Lockdown Versus Not-in-Lockdown Measures in Italy and Croatia: Cross-Sectional Study in the Early Ascending Phase of the COVID-19 Pandemic in March 2020

The novelty of the coronavirus disease 2019 (COVID-19) pandemic is that it is occurring in a globalized society enhanced by digital capabilities. Our aim was to analyze the psychological and emotional states of participants in different pandemic-related contexts, with a focus on their digital and physical distancing behaviors. The online survey was applied during the ascending phase of the pandemic in March 2020 in two neighboring EU countries: Italy and Croatia. The study subjects involved four groups, two directly affected by epidemiological measures and two serving as controls—(1) participants from Italy who were in lockdown (Italy group), (2) participants from Croatia who were not in lockdown but who were in direct contact with an infected person and underwent epidemiological measures (CRO-contact group), (3) participants from Croatia who were in an analogous situation but not near the same infected person (CRO-no contact group), and (4) participants from Croatia who were not aware of any infected person (CRO-unrelated group). The survey consisted of validated scales of psychological and emotional states, and custom-made questionnaires on the digital (online) and physical (off-line) behavior of the participants. The Italy group in lockdown had higher self-perceived scores for depression, stress, post-traumatic intrusion, and avoidance, as well as the highest digital activity and physical distancing than the not-in-lockdown Croatian groups. The insight into the extent of online activities and off-line isolation allowed for the introduction of Digital Activity and Physical Distancing Scores. Self-perceived post-traumatic avoidance was higher in both the Italy and CRO-contact groups than the control CRO-no contact and CRO-unrelated groups, and higher avoidance correlated with higher Digital Activity and Physical Distancing Scores. Being in direct contact with the infected person, the CRO-contact group had no other alterations than unexpectedly lower post-traumatic hyperarousal when compared with the Italy group. The Italy group in lockdown demonstrated higher self-perceived psychological toll together with higher digital activity and physical distancing than Croatian groups not in lockdown, even when compared with the affected CRO-contact group. The study outcomes suggest that the general emergency measures influenced citizens in lockdown more than exposure to the virus through direct contact with an infected person.

Influence of Perceived Baseline Contact on the Acceptability of a Personal Contact Intervention Among People Living With Dementia

Background: Living with dementia can be a lonely experience, undermining older adults’ quality of life. Evidence supports that personal contact interventions can address older adults’ loneliness. However, effects have been small to date, and little is known about how one’s perceptions of baseline contact may influence an intervention’s use and effects. The purpose of this study was to explore how baseline contact, as perceived by older adults living with dementia, may be associated with the acceptability of a personal contact intervention. Methods: This descriptive study was a secondary analysis of data that we collected from 15 people living with mild to moderate dementia in a long-term care home who participated in Connecting Today. Connecting Today is a personal contact intervention that involves 30 minutes of scheduled, unscripted interaction between persons living with dementia and a family member, friend or research assistant. Visits occurred for six weeks, face-to-face or by phone. We compared groups that perceived that they had high (i.e., weekly, n=8) versus low (i.e., monthly or unknown, n=7) contact at baseline to explore differences in acceptability. We measured perceived acceptability (adapted Treatment Perception and Preferences Questionnaire) and the amount and reasons reported for missing data and study withdrawal. Descriptive statistics were used to summarize the data, and proportions and frequencies were compared in tables and charts to explore differences between groups.Results: In visits one and two when there were little missing data, a larger proportion (85.7% to 100%) of low contact participants reported feeling better, that the visits helped them, and that the visits were easy ‘mostly’ or ‘a lot’, as compared to the high contact group (37.5% to 62.5%). Retention and attrition after visit two further supported that Connecting Today may be more acceptable for people with low perceived baseline contact: the majority of missing data (71%) and all study withdrawals were observed in the high contact group. Conclusions: Testing the hypotheses generated in this study about the influence of perceived baseline contact upon acceptability in larger feasibility and effectiveness studies will support development of tailored, theory-based personal contact interventions.

Self-perceived mental health status, digital activity and physical distancing in the context of lockdown versus not-in-lockdown measures in Italy and Croatia: Cross-sectional study in early ascending phase of COVID-19 pandemic in March 2020 (Preprint)

BACKGROUND The novelty of the COVID-19 pandemic is that it occurs in the globalized society enhanced by digital capabilities. OBJECTIVE To analyze the psychological and emotional states of participants in different pandemic-related situations together with their digital and physical distancing behaviors. METHODS The online survey was applied during the ascending phase of the pandemic in March 2020 in two neighboring EU countries, Italy and Croatia. The study subjects involved four groups, two directly affected by epidemiological measures and two serving as controls – (1) participants from Italy who were in lockdown (Italy group), (2) participants from Croatia who were not in lockdown, but who were in direct contact with an infected person and underwent epidemiological measures (CRO-contact group), (3) participants from Croatia who were in analogous situation but not near the same infected person (CRO-no contact group) and (4) participants from Croatia who were not aware of any infected person (CRO-unrelated group). The survey consisted of validated scales of psychological and emotional states, and custom-made questionnaires on digital and physical (off-line) behavior of the participants. RESULTS Italy group in lockdown had higher self-perceived scores for depression, stress, post-traumatic intrusion and avoidance, as well as highest digital activity and physical distancing than the not-in-lockdown Croatian groups. The insight in extent of online activities and off-line isolation allowed introducing Digital Activity and Physical Distancing Scores. Self-perceived post-traumatic avoidance was higher in both, the Italy and CRO-contact groups, than the control CRO-no contact and CRO-unrelated groups, and the higher avoidance correlated with higher Digital Activity and Physical Distancing Scores. Unlike Italian participants, the CRO-contact group had no other alterations than unexpectedly lower post-traumatic hyperarousal when compared to Italy and CRO-unrelated groups. CONCLUSIONS The Italy group demonstrated higher self-perceived psychological toll together with higher digital activity and physical distancing than Croatian groups, even when compared to the affected CRO-contact group, suggesting that the general emergency measures influenced citizens in lockdown more than a direct exposure to virus.