Breast cancer in neurofibromatosis type 1 : overrepresentation of unfavourable prognostic factors

Background: An increased breast cancer incidence and poor survival have been reported for women with neurofibromatosis 1 (NF1). To explain the poor survival, we aimed to link the histopathology and clinical characteristics of NF1-associated breast cancers. Methods: The Finnish Cancer Registry and the Finnish NF Registry were cross-referenced to identify the NF1 patients with breast cancer. Archival NF1 breast cancer specimens were retrieved for histopathological typing and compared with matched controls. Results: A total of 32 breast cancers were diagnosed in 1404 NF1 patients during the follow-up. Women with NF1 had an estimated lifetime risk of 18.0% for breast cancer, and this is nearly two-fold compared with that of the general Finnish female population (9.74%). The 26 successfully retrieved archival NF1 breast tumours were more often associated with unfavourable prognostic factors, such as oestrogen and progesterone receptor negativity and HER2 amplification. However, survival was worse in the NF1 group (P = 0.053) even when compared with the control group matched for age, diagnosis year, gender and oestrogen receptor status. Scrutiny of The Cancer Genome Atlas data set showed that NF1 mutations and deletions were associated with similar characteristics in the breast cancers of the general population. Conclusions: These results emphasise the role of the NF1 gene in the pathogenesis of breast cancer and a need for active follow-up for breast cancer in women with NF1.Peer reviewe

Cross-sectional relationship between physical fitness components and functional performance in older persons living in long-term care facilities

BACKGROUND: The age-related deterioration of physiological capacities such as muscle strength and balance is associated with increased dependence. Understanding the contribution of physical fitness components to functional performance facilitates the development of adequate exercise interventions aiming at preservation of function and independence of older people. The aim of the study was to investigate the relationship between physical fitness components and functional performance in older people living in long-term care facilities. METHODS: Design cross-sectional study Subjects 226 persons living in long-term care facilities (mean age: 81.6 ± 5.6). Outcome measures Physical fitness and functional performance were measured by performance-based tests. RESULTS: Knee and elbow extension strength were significantly higher in men (difference = 44.5 and 50.0 N, respectively), whereas women were more flexible (difference sit & reach test = 7.2 cm). Functional performance was not significantly different between the genders. In men, motor coordination (eye-hand coordination) and measures of strength were the main contributors to functional performance, whereas in women flexibility (sit and reach test) and motor coordination (tandem stance and eye-hand coordination) played a major role. CONCLUSION: The results of this study show that besides muscle strength, fitness components such as coordination and flexibility are associated with functional performance of older people living in long-term care facilities. This suggests that men and women living in long-term care facilities, differ considerably concerning the fitness factors contributing to functional performance. Women and men may, therefore, need exercise programs emphasizing different fitness aspects in order to improve functional performance

Participation of older newly-diagnosed cancer patients in an observational prospective pilot study: an example of recruitment and retention

<p>Abstract</p> <p>Background</p> <p>There have been few prospective observational studies which recruited older newly-diagnosed cancer patients, and of these only some have reported information on the number needed to screen to recruit their study sample, and the number and reasons for refusal and drop-out. This paper reports on strategies to recruit older newly-diagnosed cancer patients prior to treatment into an observational prospective pilot study and to retain them during a six-month period.</p> <p>Methods</p> <p>Medical charts of all patients in the Segal Cancer Centre aged 65 and over were screened and evaluated for inclusion. Several strategies to facilitate recruitment and retention were implemented. Reasons for exclusion, refusal and loss to follow-up were recorded. Descriptive statistics were used to report the reasons for refusal and loss to follow-up. A non-response analysis using chi-square tests and t-tests was conducted to compare respondents to those who refused to participate and to compare those who completed the study to those who were lost to follow-up. A feedback form with open-ended questions was administered following the last interview to obtain patient's opinions on the length of the interviews and conduct of this pilot study.</p> <p>Results</p> <p>3060 medical charts were screened and 156 eligible patients were identified. Of these 112 patients participated for a response rate of 72%. Reasons for refusal were: feeling too anxious (40%), not interested (25%), no time (12.5%), too sick (5%) or too healthy (5%) or other reasons (5%). Ninety-one patients participated in the six-month follow-up (retention 81.3%), seven patients refused follow-up (6.2%) and fourteen patients died (12.5%) during the course of the study. The median time to conduct the baseline interview was 45 minutes and 57% of baseline interviews were conducted at home. Most patients enjoyed participation and only five felt that the interviews were too long.</p> <p>Conclusion</p> <p>It was feasible to recruit newly-diagnosed cancer patients prior to treatment although it required considerable time and effort. Once patients were included, the retention rate was high despite the fact that most were undergoing active cancer treatment.</p

Seropositivity for CMV and IL-6 levels are associated with grip strength and muscle size in the elderly

BACKGROUND: Sarcopenia is an important cause of morbidity and mortality in older adults, with immunosenescence and inflammation being possible underlying mechanisms. We investigated the relationship between latent cytomegalovirus (CMV) infection, Interleukin 6 (IL-6) levels, muscle size and strength in a group of healthy older community-dwelling people. METHODS: Participants were healthy volunteers from the Lothian Birth Cohort 1936 study. Participants had IL-6 level and CMV antibody titre measured at age 70 years and grip strength and a volumetric T1-weighted MRI brain scan (allowing measurement of neck muscle cross-sectional area (CSA)) at age 73. Markers of childhood deprivation were adjusted for in the analysis due to correlations between childhood deprivation and latent CMV infection. RESULTS: 866 participants were studied; 448 men (mean age 72.48 years, sd 0.70) and 418 women (mean age 72.51 years, sd 0.72). In men, CMV seropositivity was associated with smaller neck muscle CSA (p = 0.03, partial eta squared = 0.01), even after adjustment for IL-6 levels. Neck muscle CSA was not associated with CMV seropositivity in women, or CMV antibody titre or IL-6 level in either sex. Grip strength associated negatively with IL-6 level (right grip strength p<0.00001, partial eta squared 0.032 and left grip strength p<0.00001, partial eta squared 0.027) with or without adjustment for CMV serostatus or antibody titre. CMV status and antibody titre were not significantly associated with grip strength in either hand. CONCLUSION: These findings support the hypothesis that there is a relationship between markers of immunosenescence (i.e. CMV serostatus and IL6 level) and low muscle mass and strength and longitudinal studies in older cohorts are now required to investigate these relationships further

Health-related factors correlate with behavior trends in physical activity level in old age: longitudinal results from a population in São Paulo, Brazil

<p>Abstract</p> <p>Background</p> <p>Physical inactivity in leisure time is common among elderly in Brazil and this finding is particularly alarming considering that this population is greatly affected by chronic diseases. The identification of health factors that influence physical activity level (PAL) will help in the development of strategies for increasing PAL older adults. The current research aimed to identify variables that independently affect behavior trends in PAL over the course of two years among elderly.</p> <p>Methods</p> <p>A survey entitled the Epidoso Project ("Epidemiology of aging") studied 1,667 community-based older individuals in São Paulo city, Brazil over the course of two years. Physical activity level was determined through questions about frequency and duration of physical activities. Body Mass Index was calculated; functional capacity was assessed through the ADL (activities of daily living) scale; cognition was assessed by Mini-Mental State Examination; and mental health was assessed through the Dysthymia Screening. Experiences of falls and fractures were also assessed. Subjects were divided into three groups according to their self-report of Physical Activity Level: a - Regularly Active; b - Insufficiently Active and c - Physically Inactive. Behavior trends in PAL were also measured after two years. Multivariate regression model methodology was used to test associations longitudinally.</p> <p>Results</p> <p>Results from the final model demonstrated that the risk of a not favorable behavior trend in PAL, which included the group who remained physically inactive and the group that displayed decreased PAL, in this cohort of older adults was significantly increased if the individual was female (OR = 2.50; 95% CI = 1.60-3.89; <it>P < 0.01</it>), older (80 y vs. 65 y, OR = 6.29, 95% CI = 2.69-14.67; <it>P < 0.01</it>), dependent on help from others for activities in the ADL scale (moderate-severe = 4-7+ vs. 0 ADLs) (OR = 2.25, 95% CI = 1.20-4.21; <it>P < 0.011</it>) or had experienced a history of falls with consequences (OR = 6.88, 95% CI = 0.91-52.01; <it>P < 0.062</it>).</p> <p>Conclusions</p> <p>Age, gender, ADL scores and falls were associated with a not favorable behavior trend in PAL. Promotion programs should target these factors, reducing barriers to achieve desired changes in PAL.</p

Training Genetic Counsellors to Deliver an Innovative Therapeutic Intervention: their views and experience of facilitating multi-family discussion groups

Innovations in clinical genetics have increased diagnosis, treatment and prognosis of inherited genetic conditions (IGCs). This has led to an increased number of families seeking genetic testing and / or genetic counselling and increased the clinical load for genetic counsellors (GCs). Keeping pace with biomedical discoveries, interventions are required to support families to understand, communicate and cope with their Inherited Genetic Condition. The Socio-Psychological Research in Genomics (SPRinG) collaborative have developed a new intervention, based on multi-family discussion groups (MFDGs), to support families affected by IGCs and train GCs in its delivery. A potential challenge to implementing the intervention was whether GCs were willing and able to undergo the training to deliver the MFDG. In analysing three multi-perspective interviews with GCs, this paper evaluates the training received. Findings suggests that MFDGs are a potential valuable resource in supporting families to communicate genetic risk information and can enhance family function and emotional well-being. Furthermore, we demonstrate that it is feasible to train GCs in the delivery of the intervention and that it has the potential to be integrated into clinical practice. Its longer term implementation into routine clinical practice however relies on changes in both organisation of clinical genetics services and genetic counsellors' professional development

A Systematic Review of Dynamometry and its Role in Hand Trauma Assessment

The dynamometer was developed by American neurologists and came into general use in the late 19th century. It is still used in various ways as a diagnostic and prognostic tool in clinical settings. In this systematic review we assessed in detail the different uses of dynamometry, its reliability, different dynamometers used and the influence of rater experience by bringing together and evaluating all published literature in this field. It was found that dynamometry is applied in a wide range of medical conditions. Furthermore, the great majority of studies reported acceptable to high reliability of dynamometry. Jamar mechanical dynamometer was used most often in the studies reviewed. There were mixed results concerning the effect of rater experience. The factors influencing the results of dynamometry were identified as age, gender, body weight, grip strength, BMI, non/dominant hand, assessing upper/lower limbs, rater and patient’s strength and the distance from the joint where the dynamometer is placed. This review provides an understanding of the relevance and significance of dynamometry which should serve as a starting point to guide its use in hand trauma assessment. On the basis of our findings, we suggest that hand dynamometry has a great potential, and could be used more often in clinical practice

Survivors of war in the Northern Kosovo (II): baseline clinical and functional assessment and lasting effects on the health of a vulnerable population

<p>Abstract</p> <p>Background</p> <p>This study documents torture and injury experience and investigates emotional well-being of victims of massive violence identified during a household survey in Mitrovicë district in Kosovo. Their physical health indicators such as body mass index (BMI), handgrip strength and standing balance were also measured. A further aim is to suggest approaches for developing and monitoring rehabilitation programmes.</p> <p>Methods</p> <p>A detailed assessment was carried out on 63 male and 62 female victims. Interviews and physical examination provided information about traumatic exposure, injuries, and intensity and frequency of pain. Emotional well-being was assessed using the "WHO-5 Well-Being" score. Height, weight, handgrip strength and standing balance performance were measured.</p> <p>Results</p> <p>Around 50% of victims had experienced at least two types of torture methods and reported at least two injury locations; 70% had moderate or severe pain and 92% reported constant or periodic pain within the previous two weeks. Only 10% of the victims were in paid employment. Nearly 90% of victims had experienced at least four types of emotional disturbances within the previous two weeks, and many had low scores for emotional well-being. This was found to be associated with severe pain, higher exposure to violence and human rights violations and with a low educational level, unemployment and the absence of political or social involvement.</p> <p>Over two thirds of victims were overweight or obese. They showed marked decline in handgrip strength and only 19 victims managed to maintain standing balance. Those who were employed or had a higher education level, who did not take anti-depressant or anxiety drugs and had better emotional well-being or no pain complaints showed better handgrip strength and standing balance.</p> <p>Conclusions</p> <p>The victims reported a high prevalence of severe pain and emotional disturbance. They showed high BMI and a reduced level of physical fitness. Education, employment, political and social participation were associated with emotional well-being. Interventions to promote physical activity and social participation are recommended. The results indicate that the rapid assessment procedure used here offers an adequate tool for collecting data for the monitoring of health interventions among the most vulnerable groups of a population exposed to violence.</p

A systematic review of attitudes, anxiety, acceptance, and trust towards social robots

As social robots become more common, there is a need to understand how people perceive and interact with such technology. This systematic review seeks to estimate people’s attitudes toward, trust in, anxiety associated with, and acceptance of social robots; as well as factors that are associated with these beliefs. Ninety-seven studies were identified with a combined sample of over 13,000 participants and a standardized score was computed for each in order to represent the valence (positive, negative, or neutral) and magnitude (on a scale from 1 to − 1) of people’s beliefs about robots. Potential moderating factors such as the robots’ domain of application and design, the type of exposure to the robot, and the characteristics of potential users were also investigated. The findings suggest that people generally have positive attitudes towards social robots and are willing to interact with them. This finding may challenge some of the existing doubt surrounding the adoption of robotics in social domains of application but more research is needed to fully understand the factors that influence attitudes